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	NSWES951	WT	HH	HZ	NC
chr1	1471966	1471966	G	A	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_031921:exon1:c.G82A:p.G28R	.	436	1073	13	0	0	13	0.00602131	.	.	.	2238038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.533	0.96297662518	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs766445790	0.0004	0.0004	0.0004	0.0004	0.0036	0.0004	0.0003	0.0029	0.0027	0.0005	0.0001	0.0092	0	2.98e-05	0.0035	0.0002	0.0011	0.0036	0.0005	0.0005	0.0005	0.0005	0.0034	0.0004	0.0004	0.0021	0.0017	0.0004	0	6.587e-05	0.0078	0	0	0	0.0002	0.0014	0.0034	0.068	0.35726	T	0.013	0.63109	D	0.993	0.65571	D	0.809	0.58564	P	0.000032	0.55875	D	0.119337	1	0.81001	D	1.845	0.48678	L	-3.46	0.94508	D	-2.05	0.47008	N	0.38	0.42149	0.748	0.93769	D	0.851	0.95028	D	10	0.19638473	0.35527	T	0.962977	0.99761	D	0.533	0.80367	0.245	0.17984	0.804452295794	0.80261	0.05583717933078997	0.05524	2.1004962454	0.94829	0.903321623802	0.96799	D	0.04557	0.27163	T	0.168	0.70911	D	0.0031128	0.70537	D	0.888357698917389	0.53894	D	0.826617	0.49005	T	0.111015305	0.26236	0.1303146	0.31316	0.111015305	0.26236	0.1303146	0.31315	-4.428	0.29934	T	.	.	0.163	0.35931	B	.	.	4.752258	0.76745	26.6	0.9981102648782445	0.89531	0.95263	0.64045	D	AEFDGBCI	0.684661	0.64693	D	0.350488732764779	0.58764	4.050884	0.237747216468909	0.51955	3.373792	0.999999999996478	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	2.65	2.65	0.30588	4.361000	0.59235	10.979000	0.84589	0.494000	0.22454	0.987000	0.36337	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	11.952	0.52245	862	0.33134	.	.	.	.	.	.	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	0.007031	0.000000	0.000000	0.000000	0.000000	0.014286	0.004274	0.038462	0.02632	349.33	14	chr1	1471966	.	G	A	349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.716;DP=637;ExcessHet=0;FS=1.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.16;MQRankSum=-4.278;QD=8.73;ReadPosRankSum=0.249;SOR=0.941	GT:AD:DP:GQ:PL	0/1:24,16:40:99:363,0,586	18	0	1	0
chr1	3430888	3430888	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon15:c.G3301A:p.V1101M,PRDM16:NM_199454:exon15:c.G3301A:p.V1101M	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	400	1119	3	0	0	3	0.00133869	.	.	.	75287	Left_ventricular_noncompaction_8|Cardiomyopathy,_dilated,_1LL|not_specified|not_provided|PRDM16-related_disorder	MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260|MONDO:MONDO:0800367,MedGen:C3809289|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	.	0.00299521	0.0036	0.0001	8.676e-05	0.0001	0	3.018e-05	0.0011	0.0256	0.0029042	449	154602	rs201654872	0.0016	0.0016	0.0009	0.0022	0.0242	0.0015	0.0015	0.0234	0.0230	0.0002	0.0001	0	0.0002	0	0.0007	3.237e-05	0.0023	0.0242	0.0008	0.0008	0.0004	0.0012	0.0224	0.0007	0.0006	0.0190	0.0177	0.0001	0	0.0002	0	0.0004	0	0	4.409e-05	0	0.0224	0.207	0.20456	T	0.175	0.29945	T	0.099	0.45487	B	0.009	0.29270	B	0.223784	0.16077	N	0.398827	0.99998	0.18612	N	0.69	0.16971	N	3.43	0.05574	T	-0.4	0.13805	N	0.184	0.21710	-0.9372	0.43057	T	0.009	0.03183	T	10	0.005124122	0.00111	T	.	.	.	0.033	0.08068	.	.	0.161926535498	0.15789	0.11273426010008292	0.11201	0.0712543647857	0.07981	0.242809474468	0.03049	T	0.010207	0.40378	T	-0.669832	0.00055	T	-0.71602	0.04990	T	0.00775660335536496	0.00091	T	0.475952	0.14261	T	0.025238048	0.01440	0.03151112	0.01751	0.020955957	0.00674	0.03672031	0.03175	-3.824	0.21164	T	.	.	0.080	0.12750	B	.;.;.;.;.	.;.;.;.;.	1.988009	0.25258	16.70	0.82353937852225323	0.14148	0.43729	0.27162	N	AEFBI	0.094798	0.19162	N	-0.703813054880976	0.15914	0.8062771	-0.645008051870013	0.18343	0.9794466	0.0214246759857741	0.13347	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.03	1.66	0.23081	2.224000	0.42587	1.809000	0.28946	-0.179000	0.10443	0.975000	0.34726	0.672000	0.26072	0.002000	0.04165	0.3912:0.3412:0.2675:0.0	5.696	0.17129	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	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1098.33	34	chr1	3430888	.	G	A	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=738;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=1.02;SOR=0.532	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1112,0,1534	18	0	1	0
chr1	11650721	11650721	-	TG	exonic	FBXO2	.	frameshift insertion	FBXO2:NM_012168:exon2:c.135_136insCA:p.Y46Hfs*72	.	364	1157	1	0	0	1	0.000431965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs765227103	8.77e-06	9.591e-06	0	1.777e-05	9.015e-05	4.68e-06	3.69e-06	4.138e-05	2.901e-05	3.466e-05	0	0	0	0	0	3.732e-06	0	9.015e-05	3.089e-05	2.747e-05	6.052e-05	0	7.52e-05	1.022e-05	5.86e-06	.	.	3.975e-05	0	7.52e-05	0	0	0	0	1.534e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	351.29	37	chr1	11650721	.	A	ATG	351.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=649;ExcessHet=0;FS=4.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.611;SOR=2.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,10:25:99:0|1:11650721_A_ATG:365,0,496:11650721	18	0	1	0
chr1	11650722	11650722	-	G	exonic	FBXO2	.	frameshift insertion	FBXO2:NM_012168:exon2:c.134dupC:p.Y46Vfs*81	.	338	830	287	59	8	413	0.196126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.513e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs148874459	9.458e-06	1.026e-05	1.437e-06	1.769e-05	8.911e-05	5.28e-06	4.07e-06	4.095e-05	2.873e-05	3.405e-05	0	0	0	0	0	3.718e-06	1.743e-05	8.911e-05	2.634e-05	2.626e-05	5.151e-05	0	6.545e-05	8.15e-06	5.15e-06	.	.	2.417e-05	0	6.545e-05	0	0	0	0	1.473e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2785.63	19	chr1	11650722	.	C	CG	2785.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=673;ExcessHet=2.0135;FS=9.653;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.333;SOR=1.367	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,10:25:99:0|1:11650721_A_ATG:365,0,496:11650721	18	0	1	0
chr1	12192991	12192991	C	T	exonic	TNFRSF1B	.	nonsynonymous SNV	TNFRSF1B:NM_001066:exon6:c.C680T:p.T227M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0256058926173	.	.	3.307e-05	0	0	0	0	6.007e-05	0	0	3.23e-05	5	154602	rs764190618	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0001	1.584e-05	1.356e-05	5.849e-05	3.758e-05	0.0001	0	0	0	1.872e-05	0	2.068e-05	4.967e-05	0	3.942e-05	3.94e-05	3.853e-05	4.035e-05	6.541e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	6.541e-05	0	0	0	0	5.88e-05	0	0	0.385	0.11015	T	0.185	0.28958	T	0.007	0.14184	B	0.0	0.01387	B	0.000040	0.00387	N	5.249020	1	0.08975	N	-1.67	0.00374	N	-2.11	0.86216	D	0.09	0.05917	N	0.062	0.03392	-0.6551	0.62491	T	0.216	0.57732	T	10	0.030221999	0.01149	T	0.025606	0.48570	D	0.282	0.59981	0.185	0.09388	0.2338531098	0.23012	0.2809664638679867	0.28009	0.357000777415	0.37432	0.211919412017	0.00896	T	0.097117	0.39961	T	-0.335232	0.05725	T	-0.539018	0.18393	T	0.0488264708659486	0.05292	T	0.492351	0.15167	T	0.008694259	0.00001	0.022702528	0.00290	0.008694259	0.00001	0.022702528	0.00290	-5.465	0.41540	T	.	.	0.076	0.06024	B	.	.	-1.859412	0.00138	0.002	0.44531729340392762	0.03430	0.00359	0.01841	N	AEFDBCI	0.047834	0.08098	N	-2.47988201973897	0.00018	0.0007669688	-2.52320169565956	0.00020	0.0009036462	0.999999999982318	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	3.98	-7.96	0.01011	-5.099000	0.00178	-7.316000	0.01183	-3.547000	0.00077	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0878:0.125:0.1876:0.5996	4.907	0.13158	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1880.33	42	chr1	12192991	.	C	T	1880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=859;ExcessHet=0;FS=3.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.457;SOR=0.588	GT:AD:DP:GQ:PL	0/1:68,75:143:99:1894,0,1546	18	0	1	0
chr1	12825478	12825478	G	-	exonic	PRAMEF11	.	frameshift deletion	PRAMEF11:NM_001146344:exon4:c.901delC:p.L301Sfs*3	.	622	878	18	4	0	26	0.0145903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.00139776	0.0019	0.0002	0.0012	0	0.0006	0.0014	0.0042	0.0066	0.0014165	219	154602	rs368447714	0.0089	0.0090	0.0085	0.0093	0.0193	0.0087	0.0086	0.0184	0.0181	0.0016	0.0048	0.0078	5.752e-05	0.0035	0.0140	0.0090	0.0094	0.0193	0.0059	0.0063	0.0058	0.0061	0.0136	0.0056	0.0054	0.0105	0.0094	0.0014	0.0070	0.0065	0.0047	0	0.0032	0.0216	0.0088	0.0066	0.0136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007618	0.000000	0.004412	0.005102	0.000000	0.000000	0.014151	0.019048	0.05263	785.82	8	chr1	12825477	.	AG	A	785.82	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.086;DP=405;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0565;MLEAC=2;MLEAF=0.053;MQ=30.52;MQRankSum=1.29;QD=15.11;ReadPosRankSum=0.263;SOR=0.492	GT:AD:DP:GQ:PL	0/1:11,11:22:99:335,0,345	17	0	2	0
chr1	13389938	13389938	G	A	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.G281A:p.R94H	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00114194199798	.	.	.	.	.	.	.	.	.	.	.	.	.	rs912138295	0.0010	0.0010	0.0007	0.0013	0.0114	0.0010	0.0009	0.0108	0.0106	0.0003	2.236e-05	0.0090	5.038e-05	0.0004	0.0011	0.0001	0.0016	0.0114	0.0008	0.0008	0.0006	0.0011	0.0126	0.0007	0.0007	0.0101	0.0092	0.0005	0	0.0001	0.0084	0.0002	0.0004	0	0.0001	0.0005	0.0126	0.312	0.13925	T	0.482	0.11829	T	0.026	0.19406	B	0.015	0.17295	B	0.498292	0.05076	N	1.299070	1	0.08975	N	1.195	0.30194	L	3.56	0.04696	T	-2.08	0.47514	N	0.053	0.02462	-0.9156	0.46142	T	0.013	0.04843	T	10	0.0064017177	0.00145	T	0.001668	0.02753	T	0.023	0.04649	0.472	0.54699	0.043077524339	0.03247	0.18132400949837824	0.18051	2.2713391689	0.96273	0.593606054783	0.52003	T	0.03623	0.24023	T	-0.705135	0.00034	T	-0.778831	0.02489	T	0.0116370922565012	0.00177	T	0.106989	0.00800	T	0.029985612	0.02585	0.027755769	0.00953	0.029985612	0.02585	0.027755769	0.00953	-2.768	0.07892	T	.	.	0.087	0.11220	B	.	.	0.501504	0.08704	5.479	0.83637877073273137	0.14836	0.00135	0.00831	N	AEFI	0.024449	0.01516	N	-1.17478086580031	0.05383	0.2452787	-1.30060303373	0.04423	0.2085942	2.82563808384259E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-0.149	0.12764	-2.794000	0.00835	-20.000000	0.00162	-0.271000	0.06739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5537:0.4463	3.923	0.08751	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	1061.33	34	chr1	13389938	.	G	A	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.907;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.22;MQRankSum=0.053;QD=14.95;ReadPosRankSum=-0.649;SOR=0.798	GT:AD:DP:GQ:PL	0/1:29,42:71:99:1075,0,744	18	0	1	0
chr1	15467516	15467516	A	G	exonic	CELA2A	.	nonsynonymous SNV	CELA2A:NM_033440:exon7:c.A770G:p.N257S	.	425	1079	18	0	0	18	0.00827206	.	.	.	3893868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.172	0.00980503166046	0.0048	0.00219649	0.0043	0.0015	0.0011	0.0003	0.0027	0.0056	0.0088	0.0055	0.0043143	667	154602	rs2303193	0.0057	0.0057	0.0056	0.0058	0.0121	0.0056	0.0055	0.0099	0.0090	0.0008	0.0014	0.0033	0.0017	0.0021	0.0121	0.0063	0.0047	0.0064	0.0040	0.0040	0.0041	0.0040	0.0067	0.0038	0.0037	0.0062	0.0060	0.0013	0	0.0008	0.0043	0.0010	0.0035	0.0136	0.0067	0.0028	0.0052	0.143	0.25355	T	0.216	0.26226	T	0.003	0.11197	B	0.002	0.06944	B	0.113504	0.19312	U	0.469309	0.993	0.23805	N	-0.21	0.04010	N	-2.35	0.88066	D	0.48	0.03041	N	0.102	0.08506	-0.7224	0.59344	T	0.287	0.65851	T	10	0.025982976	0.00777	T	0.009805	0.25563	T	0.172	0.43662	.	.	0.380730819819	0.37686	0.3875976218304828	0.38674	0.257051402976	0.28275	0.300534248352	0.10481	T	0.160907	0.50494	T	-0.462912	0.00943	T	-0.433572	0.29531	T	0.00292193261163103	0.00031	T	0.20408	0.02372	T	0.037854165	0.04932	0.046039034	0.06327	0.037854165	0.04932	0.046039034	0.06327	-2.187	0.03978	T	0.08619391945385954	0.04937	0.070	0.03661	B	.	.	0.422817	0.07933	4.642	0.621761833845064	0.06896	0.14610	0.18494	N	AEFDI	0.330952	0.43083	N	-1.02185597508871	0.08151	0.3811957	-1.00446515374009	0.09686	0.4833695	0.0087733638555472	0.11738	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.08	1.87	0.24559	1.860000	0.39068	-1.431000	0.05455	-0.218000	0.08083	0.003000	0.16062	0.000000	0.08366	0.020000	0.11549	0.6057:0.3943:0.0:0.0	8.092	0.29969	917	0.20147	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	1	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.017241	0.003049	0.003788	0.02632	2327.33	33	chr1	15467516	.	A	G	2327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.252;DP=841;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.019;SOR=0.651	GT:AD:DP:GQ:PL	0/1:91,91:182:99:2341,0,2418	18	0	1	0
chr1	16030003	16030003	G	A	exonic	CLCNKA	.	nonsynonymous SNV	CLCNKA:NM_001257139:exon13:c.G1207A:p.V403I,CLCNKA:NM_001042704:exon14:c.G1336A:p.V446I,CLCNKA:NM_004070:exon14:c.G1336A:p.V446I	Bartter syndrome, type 4b, digenic, Digenic recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2216137	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0302117532495	.	0.000399361	8.275e-05	0	0	0	0	0	0	0.0006	7.76e-05	12	154602	rs552991562	3.29e-05	3.352e-05	2.319e-05	4.27e-05	0.0004	2.548e-05	2.253e-05	0.0003	0.0002	0	0	0	0	0	0.0002	1.081e-05	4.974e-05	0.0004	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0004	8.14e-06	5.14e-06	7.301e-05	3.033e-05	2.406e-05	0	0	0	0	0	0	1.471e-05	0	0.0004	0.189	0.22312	T	0.384	0.15794	T	0.006	0.13644	B	0.005	0.11217	B	0.459408	0.04861	N	1.282450	1	0.08975	N	1.32	0.33002	L	-3.32	0.93882	D	-0.27	0.11366	N	0.122	0.14196	-0.3101	0.74702	T	0.505	0.81348	D	10	0.040905446	0.02700	T	0.030212	0.52566	D	0.121	0.33580	0.365	0.37199	0.617224619168	0.61412	0.20823938618863844	0.20739	0.192320976914	0.21557	0.295115828514	0.09675	T	0.278619	0.65128	T	-0.341084	0.05313	T	-0.405754	0.32717	T	0.0481302995570745	0.05167	T	0.661834	0.28166	T	0.038911868	0.05276	0.041275356	0.04654	0.038911868	0.05275	0.041275356	0.04653	-4.57	0.32509	T	0.2459380437156849	0.33309	0.074	0.05800	B	.;.;.	.;.;.	-1.110624	0.00628	0.017	0.81422711343417076	0.13678	0.05270	0.11110	N	AEFDBI	0.064041	0.12412	N	-1.44482305621343	0.02258	0.09950224	-1.55960627035426	0.01910	0.0871456	0.0216397650966684	0.13365	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.3	-5.59	0.02305	-2.657000	0.00926	-4.347000	0.02204	-2.999000	0.00142	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1473:0.5631:0.1491:0.1404	4.435	0.10968	437	0.80299	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1740.33	34	chr1	16030003	.	G	A	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.179;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=1.03;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,45:90:99:0|1:16030003_G_A:1754,0,1750:16030003	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:375,187:562:99:.:.:4196,0,10530:.	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	0/1:533,246:779:99:.:.:5267,0,14543:.	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	0/1:547,216:763:99:4278,0,16369	5	0	14	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	0/1:231,294:525:99:.:.:7581,0,7980:.	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	0/1:359,151:510:99:3302,0,13675	0	0	19	0
chr1	16567206	16567206	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	322	1118	82	0	0	82	0.0353753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	.	0.0160	0.0048	0.0096	0.0272	0.0122	0.0165	0.0178	0.0214	0.0128912	1993	154602	rs3927566	0.0011	0.0037	0.0011	0.0011	0.0053	0.0010	0.0010	0.0029	0.0022	0.0004	0.0006	0.0058	0.0011	0.0004	0.0053	0.0010	0.0017	0.0009	0.0003	0.0015	0.0004	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0003	0.0010	0.0007	0.0004	0	0.0004	0.0011	0.0003	.	.	.	0.141	0.40426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	0.0049045384	0.00105	T	.	.	.	.	.	.	.	.	.	0.015363255238990382	0.01492	.	.	0.514282226562	0.40822	T	.	.	.	-0.544364	0.00315	T	-0.631423	0.10307	T	.	.	.	0.79622	0.43953	T	.	.	.	.	.	.	.	.	-4.885	0.35566	T	.	.	0.127	0.30318	B	.;.	.;.	1.264825	0.16631	12.66	0.42851535371219329	0.03186	0.01238	0.04371	N	AEFDBHCI	0.047698	0.08058	N	.	.	.	.	.	.	0.559270903784427	0.21400	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	.	.	.	-0.685000	0.05269	-1.776000	0.04747	-0.957000	0.01998	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	491	0.76657	.;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	0.033898	0.020202	0.027174	0.012295	0.050000	0.034483	0.057927	0.049618	0.07895	2243.79	169	chr1	16567206	.	G	A	2243.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.29;DP=5661;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=58.11;MQRankSum=-4.446;QD=0.95;ReadPosRankSum=-0.587;SOR=0.778	GT:AD:DP:GQ:PL	0/1:725,94:819:99:406,0,18624	16	0	3	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;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	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1842	14227.4	1947	chr1	16567226	.	A	C	14227.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.004;DP=10643;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.91;MQRankSum=-2.597;QD=1.96;ReadPosRankSum=-0.774;SOR=0.646	GT:AD:DP:GQ:PL	0/1:726,170:898:99:2596,0,19236	12	0	7	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;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	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1579	7117.62	633	chr1	16569091	.	T	C	7117.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.269;DP=5318;ExcessHet=2.0135;FS=1.468;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.158;MQ=44.1;MQRankSum=-4.469;QD=2.38;ReadPosRankSum=-0.053;SOR=0.712	GT:AD:DP:GQ:PL	0/1:400,119:519:99:1664,0,9979	13	0	6	0
chr1	16582598	16582598	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00161184850171	.	.	0.0007	0.0003	0	0	0.0023	0.0008	0.0011	0.0007	0.0001537	4	26028	rs760796847	0.0013	0.0027	0.0012	0.0013	0.0015	0.0012	0.0012	0.0014	0.0014	6.838e-05	7.586e-05	0.0004	0	0.0027	0.0003	0.0015	0.0005	0.0005	0.0006	0.0020	0.0005	0.0006	0.0007	0.0005	0.0004	0.0006	0.0005	7.283e-05	0	6.58e-05	0.0003	0	0.0025	0	0.0007	0.0010	0.0002	.	.	.	0.667	0.06365	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.034389168	0.01645	T	0.001612	0.02600	T	.	.	.	.	0.548274029423	0.54483	0.09397841412381532	0.09329	.	.	0.593917548656	0.52046	T	.	.	.	-0.442982	0.01242	T	-0.874089	0.00705	T	.	.	.	0.928907	0.73860	D	.	.	.	.	.	.	.	.	-9.648	0.71778	D	.	.	0.213	0.44174	B	.;.	.;.	0.956473	0.13331	9.831	0.38149752361645262	0.02556	0.00913	0.03561	N	AEFBI	0.044144	0.07066	N	.	.	.	.	.	.	6.44826626712388E-5	0.04366	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	0.783	-0.405	0.11775	1.041000	0.29901	-0.631000	0.08125	0.242000	0.18252	0.401000	0.26178	0.000000	0.08366	0.019000	0.11356	0.0:0.0:0.6799:0.3201	5.616	0.16710	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000591	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004065	0.02632	82.33	37	chr1	16582598	.	G	C	82.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=1050;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.29;MQRankSum=-1.551;QD=1.91;ReadPosRankSum=-0.684;SOR=0.963	GT:AD:DP:GQ:PL	0/1:37,6:43:96:96,0,1326	18	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:140,15:155:60:60,0,4564	1	7	11	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:176,66:242:99:1358,0,5029	9	0	10	0
chr1	16969866	16969866	C	G	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon33:c.C5383G:p.R1795G	.	425	1083	13	1	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0012	0.013778	0.0118	0.0005	0.0234	0.0788	0.0179	0.0038	0.0172	0.0034	0.0101034	1562	154602	rs79354809	0.0047	0.0047	0.0048	0.0046	0.0775	0.0046	0.0046	0.0752	0.0742	0.0002	0.0181	0.0031	0.0775	0.0205	0.0026	0.0010	0.0058	0.0042	0.0052	0.0052	0.0040	0.0064	0.0670	0.0049	0.0048	0.0612	0.0589	0.0002	0	0.0056	0.0029	0.0670	0.0211	0	0.0012	0.0057	0.0046	0.033	0.44358	D	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	0.997564	0.43994	D	.	.	.	2.87	0.10386	T	-3.58	0.69118	D	0.142	0.14196	-1.1591	0.00778	T	0.004	0.01226	T	9	0.0022875667	0.00034	T	.	.	.	0.086	0.25016	.	.	.	.	0.130654658728565	0.12990	0.362009664807	0.37853	0.418873429298	0.27682	T	.	.	.	-0.51857	0.00448	T	-0.456818	0.26945	T	0.0372098982334137	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14933	B	.	.	3.211095	0.43707	21.8	0.99775563011870105	0.86260	0.93923	0.59584	D	AEFBI	0.412527	0.48257	N	0.217583725920163	0.52052	3.381875	0.159926822944916	0.47669	2.993771	0.999959140080934	0.48110	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	4.97	4.04	0.46262	1.889000	0.39352	0.826000	0.21901	0.599000	0.40250	1.000000	0.71638	0.995000	0.32472	0.447000	0.27828	0.1624:0.8376:0.0:0.0	12.980	0.57957	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	0.003049	0.000000	0.000000	0.002959	0.000000	0.000000	0.012500	0.003788	0.02632	636.33	34	chr1	16969866	.	C	G	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=709;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.342;SOR=0.584	GT:AD:DP:GQ:PL	0/1:47,31:78:99:650,0,1150	18	0	1	0
chr1	17339768	17339768	G	A	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon6:c.G607A:p.V203M	.	.	.	.	.	.	.	.	.	.	.	3208319	PADI4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.211	0.0175785503831	7.7e-05	0.00119808	0.0005	0	0	0.0069	0	0	0	0	0.0003881	60	154602	rs147414271	0.0001	0.0001	0.0001	0.0001	0.0034	0.0001	0.0001	0.0029	0.0027	0	4.477e-05	0	0.0034	0	0	3.868e-05	3.312e-05	2.32e-05	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0037	0.0032	7.22e-05	0	0	0	0.0052	0	0	5.88e-05	0	0	0.074	0.34621	T	0.007	0.69154	D	0.999	0.77913	D	0.924	0.65913	D	0.000015	0.62929	D	0.068482	0.986773	0.24583	N	2.54	0.74080	M	1.97	0.22067	T	-1.9	0.44284	N	0.596	0.61511	-1.0474	0.15130	T	0.088	0.33913	T	10	0.016382933	0.00345	T	0.017579	0.39335	T	0.211	0.50185	.	.	0.38342384377	0.37955	0.4457715804572826	0.44495	0.538909183156	0.51137	0.526029229164	0.42475	T	0.196159	0.55246	T	-0.440765	0.01280	T	-0.404124	0.32905	T	0.196604043197428	0.20226	T	.	.	.	0.2821462	0.51254	0.20123287	0.44093	0.2821462	0.51254	0.20123287	0.44092	-6.525	0.50479	T	.	.	0.140	0.30660	B	.	.	4.063222	0.60319	24.2	0.99780347260532265	0.86693	0.69930	0.34384	D	AEFDBI	0.136001	0.25652	N	0.427496322823949	0.62938	4.518397	0.315018739184331	0.56421	3.805457	0.481409719407182	0.20789	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.87	3.95	0.44952	0.795000	0.26632	5.127000	0.47629	-0.135000	0.12811	0.463000	0.26667	1.000000	0.68203	0.005000	0.06747	0.1072:0.0:0.8928:0.0	8.119	0.30119	662	0.61715	Protein-arginine deiminase (PAD), 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	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2288.33	39	chr1	17339768	.	G	A	2288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.13;DP=862;ExcessHet=0;FS=4.366;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=0.955;SOR=0.419	GT:AD:DP:GQ:PL	0/1:45,91:136:99:2302,0,1031	18	0	1	0
chr1	19128998	19128998	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon61:c.C8983T:p.R2995W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.00747657846338	0.0002	.	3.297e-05	9.612e-05	0	0	0	2.998e-05	0	6.057e-05	2.59e-05	4	154602	rs138409903	7.662e-05	7.661e-05	6.67e-05	8.663e-05	9.263e-05	6.49e-05	6.07e-05	7.773e-05	7.259e-05	0	0	0	0	0	0	9.263e-05	4.967e-05	6.956e-05	4.603e-05	5.254e-05	6.427e-05	2.692e-05	7.35e-05	2.11e-05	1.528e-05	2.846e-05	1.858e-05	4.831e-05	0	0	0	0	0	0	7.35e-05	0	0	0.009	0.63226	D	.	.	.	0.99	0.63424	D	0.454	0.46241	P	0.000003	0.62929	D	0.061993	0.999999	0.58761	D	1.355	0.33814	L	1.8	0.25344	T	-3.91	0.74980	D	0.735	0.73555	-1.0493	0.14593	T	0.084	0.32872	T	10	0.5294112	0.63097	D	0.007477	0.19846	T	0.360	0.68052	.	.	0.0934897674506	0.08844	0.5295422979113775	0.52878	1.55211242862	0.87918	0.740754842758	0.73083	T	0.647524	0.89264	D	-0.0733474	0.40790	T	-0.161607	0.58208	T	0.876450538635254	0.52632	D	0.986701	0.97178	D	0.29742086	0.52672	0.26898026	0.52773	0.29742086	0.52672	0.26898026	0.52772	-10.921	0.79223	D	.	.	0.336	0.55658	B	.;.;.	.;.;.	4.669506	0.74619	26.2	0.99926739832192935	0.99103	0.99852	0.99838	D	AEFBI	0.924086	0.90157	D	0.642531244295521	0.75887	6.385953	0.688449266048391	0.81500	7.541566	0.999999999996275	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	9.362000	0.96534	9.979000	0.82911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.115	0.93318	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	1026.33	33	chr1	19128998	.	G	A	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.381;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.232;SOR=0.656	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1040,0,1141	18	0	1	0
chr1	24061066	24061066	C	T	exonic	MYOM3	.	nonsynonymous SNV	MYOM3:NM_152372:exon35:c.G3988A:p.E1330K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.041852172301	.	.	3.312e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs777037452	1.847e-05	1.847e-05	8.167e-06	2.888e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	1.799e-06	0	0.0003	3.289e-05	3.285e-05	1.286e-05	5.388e-05	0.0006	1.262e-05	7.99e-06	0.0002	9.018e-05	4.831e-05	0	0	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.019	0.65728	D	0.024	0.66517	B	0.02	0.44885	B	0.000496	0.43931	D	0.191791	0.797116	0.34462	D	2.765	0.80766	M	0.12	0.61089	T	-3.8	0.71762	D	0.534	0.56231	-0.6887	0.60969	T	0.212	0.57214	T	10	0.21533403	0.38083	T	0.041852	0.60153	D	0.214	0.50650	0.538	0.64874	0.408036853922	0.40422	0.7804393224397657	0.77994	0.321224404552	0.34324	0.672349333763	0.63173	T	0.093147	0.39151	T	-0.210445	0.19316	T	-0.229547	0.51815	T	0.810158610343933	0.47058	D	0.940006	0.77317	D	0.56946504	0.71031	0.5236958	0.72482	0.56946504	0.71032	0.5236958	0.72482	-9.841	0.72954	D	.	.	0.618	0.69616	P	.;.	.;.	4.268505	0.64932	24.8	0.99889668694637501	0.96436	0.96784	0.70921	D	AEFBI	0.855762	0.77291	D	0.262889122306411	0.54280	3.593904	0.317370780168411	0.56559	3.819508	0.91217881735168	0.26388	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.56	4.56	0.55644	4.497000	0.60088	7.508000	0.59580	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	12.842	0.57194	521	0.74284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	839.33	33	chr1	24061066	.	C	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.474;DP=725;ExcessHet=0;FS=4.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=1.24;SOR=0.381	GT:AD:DP:GQ:PL	0/1:48,40:88:99:853,0,1217	18	0	1	0
chr1	26029618	26029620	CTT	-	exonic	EXTL1	.	nonframeshift deletion	EXTL1:NM_004455:exon3:c.892_894del:p.L299del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.204e-05	0	0	0	0	0	0	8.142e-05	1.94e-05	3	154602	rs754475052	1.716e-05	1.779e-05	1.229e-05	2.208e-05	0.0001	1.178e-05	9.95e-06	7.179e-05	5.522e-05	0	0	0	0	0	0	1.17e-05	1.663e-05	0.0001	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2212.29	35	chr1	26029617	.	GCTT	G	2212.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=738;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.9;ReadPosRankSum=0.973;SOR=0.574	GT:AD:DP:GQ:PL	0/1:44,57:101:99:2226,0,1676	18	0	1	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,24:35:99:0|1:26282270_C_T:974,0,390:26282270	8	0	8	3
chr1	26344778	26344778	G	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.C1880A:p.S627Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760812107	1.879e-05	1.779e-05	1.569e-05	2.197e-05	0.0001	1.307e-05	1.111e-05	6.764e-05	5.134e-05	3.165e-05	0	0	0	0	0	1.39e-05	0	0.0001	1.314e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.999986	0.18198	N	.	.	.	.	.	.	.	.	.	0.263	0.29774	.	.	.	.	.	.	.	0.13154641	0.25035	T	.	.	.	.	.	.	.	0.580477355671	0.57718	0.10198229083526915	0.10129	.	.	0.377882987261	0.21955	T	.	.	.	-0.294757	0.09164	T	-0.391874	0.34332	T	.	.	.	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30130	B	.;.;.	.;.;.	2.104108	0.26772	17.23	0.67489279986379791	0.08370	0.08433	0.14363	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.722871080225	0.22953	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0590733	0.14162	3.64	2.7	0.31007	1.365000	0.33786	1.509000	0.27011	0.509000	0.23192	0.003000	0.16062	0.045000	0.21693	0.033000	0.13494	0.0:0.2076:0.7924:0.0	9.987	0.41019	355	0.85216	.;.;.	.	.	.	.	.	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	1452.33	116	chr1	26344778	.	G	T	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.669;DP=1897;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.806;SOR=0.769	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1466,0,2030	18	0	1	0
chr1	27357477	27357477	C	T	exonic	MAP3K6	.	nonsynonymous SNV	MAP3K6:NM_001297609:exon22:c.G3157A:p.A1053T,MAP3K6:NM_004672:exon23:c.G3181A:p.A1061T	.	422	1099	1	0	0	1	0.000454752	.	.	.	3220542	MAP3K6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.0234018767237	.	0.00199681	0.0008	0	0.0004	0.0048	0.0005	0.0002	0.0022	0.0019	0.0007438	115	154602	rs55990440	0.0004	0.0004	0.0003	0.0005	0.0050	0.0004	0.0004	0.0044	0.0042	2.987e-05	0.0002	0	0.0050	0.0001	0.0005	0.0002	0.0002	0.0015	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0033	0	0	0	0	0.0054	0.0004	0	0.0002	0	0.0017	0.41	0.10180	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.997863	0.22470	N	1.48	0.37141	L	-0.16	0.65378	T	0.28	0.05035	N	0.089	0.08646	-1.0357	0.18637	T	0.087	0.33857	T	9	0.0072818696	0.00166	T	0.023402	0.46358	T	0.044	0.11924	.	.	0.476051820916	0.47233	0.06145786836009261	0.06085	0.302824668568	0.32607	0.447279274464	0.31573	T	0.021762	0.16890	T	-0.506238	0.00527	T	-0.499412	0.22410	T	0.0266466276510501	0.01494	T	0.366163	0.08539	T	0.027222708	0.01883	0.06661916	0.13670	0.031573597	0.03022	0.058532152	0.10831	-4.975	0.36568	T	.	.	0.081	0.08417	B	.;.;.	.;.;.	1.720920	0.21908	15.40	0.98260316825372096	0.39658	0.22802	0.21868	N	ALL	0.142338	0.26475	N	-0.581922781037059	0.19494	1.020694	-0.45170864738025	0.23501	1.281891	0.999999998659419	0.74766	0.656854	0.48797	0	0.552344	0.17405	0	0.64067	0.45733	0	0.699908	0.69081	0	.	.	5.0	4.07	0.46726	0.622000	0.24127	0.406000	0.18056	-0.176000	0.10722	0.068000	0.22015	0.136000	0.23046	0.391000	0.26581	0.0:0.7406:0.1686:0.0908	7.331	0.25758	576	0.70006	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1165.33	34	chr1	27357477	.	C	T	1165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.313;DP=709;ExcessHet=0;FS=2.287;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=-0.898;SOR=0.4	GT:AD:DP:GQ:PL	0/1:20,47:67:99:1179,0,543	18	0	1	0
chr1	31668830	31668830	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon50:c.C3221T:p.T1074M	.	.	.	.	.	.	.	.	.	.	.	2698896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.18454125841	.	.	3.336e-05	0	0	0	0.0002	1.51e-05	0	0.0001	2.59e-05	4	154602	rs773451673	1.505e-05	1.505e-05	1.361e-05	1.65e-05	6.956e-05	9.85e-06	8.42e-06	2.995e-05	2.038e-05	2.987e-05	2.237e-05	0	2.519e-05	1.875e-05	0	8.993e-06	3.312e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.104	0.38160	T	0.958	0.54977	D	0.568	0.49807	P	0.038295	0.24302	N	0.430418	0.942792	0.26740	N	0.83	0.20963	L	-3.27	0.93640	D	-0.89	0.24026	N	0.209	0.23253	0.088	0.83954	D	0.660	0.88186	D	10	0.44614658	0.58409	T	0.184541	0.85756	D	0.284	0.60219	0.34	0.33141	0.749791253662	0.74752	0.19524506561112973	0.19441	0.162573078674	0.18344	0.360701739788	0.19488	T	0.175337	0.52488	T	-0.168885	0.25404	T	-0.29884	0.44846	T	0.107229605317116	0.13134	T	0.887811	0.61653	D	0.024960272	0.01382	0.054724287	0.09465	0.024960272	0.01382	0.054724287	0.09464	-4.411	0.29706	T	.	.	0.079	0.07177	B	.	.	1.878890	0.23864	16.18	0.96883136633543376	0.31469	0.10737	0.16157	N	AEFBI	0.174835	0.30198	N	-0.428567574193107	0.24473	1.321626	-0.542405290054595	0.21008	1.13445	0.999607239160562	0.40866	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.34	-0.746	0.10535	0.552000	0.23083	0.710000	0.20927	-0.168000	0.11412	0.220000	0.24536	0.188000	0.23474	0.219000	0.22435	0.0:0.2335:0.7665:0.0	15.637	0.76716	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1285.83	40	chr1	31668830	.	G	A	1285.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.927;DP=758;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=2.1;SOR=0.668	GT:AD:DP:GQ:PL	0/1:42,22:64:99:441,0,1070	17	0	2	0
chr1	33306846	33306846	G	C	exonic	A3GALT2	.	nonsynonymous SNV	A3GALT2:NM_001080438:exon5:c.C943G:p.P315A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0600559319312	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs769442505	2.951e-06	2.736e-06	1.458e-06	4.481e-06	3.751e-06	6.9e-07	4.7e-07	8.8e-07	5.9e-07	0	0	0	0	0	0	3.751e-06	0	0	1.973e-05	1.97e-05	2.572e-05	1.346e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	.	.	.	0.718	0.05380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.19728	.	.	.	.	.	.	.	0.088591754	0.15269	T	0.060056	0.67872	D	.	.	.	.	0.303453137403	0.29957	0.19205103941977894	0.19123	1.47686996324	0.86643	0.600191295147	0.52931	T	0.005441	0.04891	T	-0.17077	0.25117	T	-0.483076	0.24120	T	.	.	.	0.484852	0.14769	T	0.04067571	0.05850	0.090509064	0.21229	0.04067571	0.05850	0.090509064	0.21229	-3.591	0.17727	T	.	.	0.073	0.04764	B	.	.	1.022939	0.14027	10.59	0.66112136584537451	0.07964	0.05052	0.10841	N	AEFDBI	0.055850	0.10278	N	.	.	.	.	.	.	0.998618643476303	0.37309	0.163419	0.03694	0	0.059962	0.00310	0	0.172434	0.04157	0	0.166187	0.04126	0	.	.	3.62	0.385	0.15471	0.370000	0.20166	2.913000	0.35519	0.614000	0.49286	0.005000	0.17040	0.954000	0.29108	0.242000	0.23054	0.1069:0.3554:0.3691:0.1687	2.747	0.04944	189	0.92630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	796.33	35	chr1	33306846	.	G	C	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.288;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.676;SOR=0.724	GT:AD:DP:GQ:PL	0/1:25,33:58:99:810,0,579	18	0	1	0
chr1	35594455	35594455	C	T	exonic	TFAP2E	.	nonsynonymous SNV	TFAP2E:NM_178548:exon7:c.C1108T:p.R370C	.	195	1325	1	0	1	2	0.000377216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.358459053137	.	0.000399361	0.0004	0.0003	0.0002	0.0001	0	0.0001	0.0011	0.0018	0.0003299	51	154602	rs201962301	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	8.961e-05	0.0001	0	0.0001	0	0.0012	0.0001	0.0002	0.0018	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	7.216e-05	0	0.0008	0	0	0	0	0.0002	0.0009	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.861	0.61279	P	0.000001	0.84330	D	0.055742	1	0.81001	D	3.25	0.89816	M	-4.29	0.97149	D	-7.57	0.95246	D	0.408	0.44857	1.066	0.98474	D	0.939	0.97992	D	10	0.104647726	0.19304	T	0.358459	0.92450	D	0.793	0.93188	.	.	0.772693829412	0.77061	0.7074969346365836	0.70691	1.32069806668	0.83445	0.700944066048	0.67279	T	0.910566	0.98313	D	-0.0119018	0.50000	T	0.185	0.82311	D	0.220805936026846	0.21504	T	0.928707	0.73770	D	0.82431316	0.85512	0.7128137	0.83054	0.82431316	0.85513	0.7128137	0.83055	-11.675	0.83232	D	.	.	0.233	0.46631	B	.	.	4.882570	0.80089	27.2	0.99903641516754227	0.97502	0.91016	0.52696	D	AEFDBHCI	0.589254	0.58620	D	0.531531835489743	0.68965	5.290373	0.47010125922354	0.66018	4.897723	0.862875542250043	0.25260	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.64	3.72	0.41857	4.987000	0.63585	1.767000	0.28601	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.8108:0.1225:0.0667	11.775	0.51249	373	0.84140	Transcription factor AP-2, 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	1524.33	36	chr1	35594455	.	C	T	1524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.23;DP=734;ExcessHet=0;FS=2.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.082;SOR=0.998	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1538,0,1154	18	0	1	0
chr1	35746946	35746946	G	T	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon14:c.C2482A:p.P828T,CLSPN:NM_001330490:exon15:c.C2674A:p.P892T,CLSPN:NM_022111:exon15:c.C2674A:p.P892T	.	423	1088	11	0	0	11	0.00502972	.	.	.	2812640	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.129	.	0.0050	0.00319489	0.0070	0.0015	0.0015	0	0.0249	0.0078	0.0066	0.0072	0.00652	1008	154602	rs34390044	0.0075	0.0076	0.0075	0.0075	0.0076	0.0074	0.0074	0.0074	0.0073	0.0011	0.0022	0.0089	5.038e-05	0.0233	0.0055	0.0075	0.0064	0.0076	0.0061	0.0061	0.0054	0.0069	0.0072	0.0058	0.0057	0.0067	0.0065	0.0013	0	0.0034	0.0063	0.0002	0.0253	0.0034	0.0072	0.0038	0.0071	0.566	0.17701	T	0.542	0.17115	T	0.702	0.49920	P	0.255	0.43123	B	0.001616	0.38497	N	0.258410	0.953803	0.26391	N	0.805	0.20218	L	1.95	0.22474	T	-0.71	0.21644	N	0.09	0.16168	-1.0691	0.09612	T	0.031	0.13504	T	10	0.0031296313	0.00052	T	.	.	.	0.129	0.35316	.	.	0.283272178027	0.27931	0.08917626161197725	0.08850	0.0946549095088	0.10693	0.401993572712	0.25347	T	0.011224	0.10044	T	-0.627674	0.00099	T	-0.667848	0.07748	T	0.0100410057950306	0.00134	T	0.724128	0.33984	T	0.027350277	0.01914	0.03263188	0.02028	0.027350277	0.01913	0.03263188	0.02028	-4.882	0.35532	T	.	.	0.094	0.16010	B	.;.;.;.	.;.;.;.	2.293634	0.29342	18.09	0.74403057931608052	0.10682	0.84467	0.43549	D	AEFDBI	0.133752	0.25352	N	-0.20038606787033	0.33118	1.875356	-0.132766046936924	0.34077	1.956287	0.589848798722657	0.21638	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.99	2.9	0.32809	2.366000	0.43858	5.607000	0.49043	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0598:0.0982:0.6383:0.2037	8.665	0.33278	207	0.91931	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.015152	0.02632	2551.33	35	chr1	35746946	.	G	T	2551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.411;DP=829;ExcessHet=0;FS=4.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.101;SOR=0.469	GT:AD:DP:GQ:PL	0/1:96,100:196:99:2565,0,2524	18	0	1	0
chr1	39437792	39437792	G	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon66:c.G11827A:p.E3943K	.	433	1088	1	0	0	1	0.000459348	.	.	.	1398596	Inborn_genetic_diseases|Lissencephaly_9_with_complex_brainstem_malformation|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.372	0.0304345626432	0.0005	.	0.0005	9.61e-05	0	0	0.0002	0.0007	0	0.0005	0.000401	62	154602	rs201968058	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	2.989e-05	6.708e-05	0	0	0.0001	0	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0005	0.0004	9.626e-05	0	6.536e-05	0	0	9.423e-05	0	0.0006	0	0.0010	0.01	0.57480	D	0.006	0.70582	D	0.991	0.64070	D	0.876	0.62173	P	0.000008	0.62929	D	0.000000	0.999992	0.81001	D	.	.	.	0.61	0.53516	T	-3.33	0.66549	D	0.646	0.67650	-0.6149	0.64200	T	0.262	0.63264	T	10	0.34994727	0.51877	T	0.030435	0.52748	D	0.372	0.69102	.	.	0.501033390876	0.49739	0.5348645961659292	0.53411	.	.	0.7106808424	0.68692	T	0.155111	0.83264	T	-0.141788	0.29607	T	-0.0594772	0.66369	T	0.258826943975446	0.23264	T	0.985001	0.94937	D	0.45659584	0.64459	0.37379238	0.62559	0.45659584	0.64459	0.37379238	0.62559	-1.292	0.01499	T	.	.	0.169	0.37235	B	.;.;.;.;.	.;.;.;.;.	4.581745	0.72389	25.8	0.99894503319072492	0.96742	0.99848	0.99820	D	AEFBI	0.908458	0.86380	D	0.810471693331544	0.86757	8.988981	0.82612876596749	0.91548	10.94298	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.48	5.48	0.80675	10.003000	0.99689	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.717	0.96119	779	0.47767	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1168.33	35	chr1	39437792	.	G	A	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.508;DP=778;ExcessHet=0;FS=5.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.521;SOR=1.176	GT:AD:DP:GQ:PL	0/1:85,52:137:99:1182,0,2280	18	0	1	0
chr1	39492274	39492274	G	A	exonic	BMP8A	.	nonsynonymous SNV	BMP8A:NM_181809:exon1:c.G283A:p.A95T	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0986531707345	0.0001	0.000998403	0.0014	0.0002	0.0004	0	0.0002	0.0012	0.0015	0.0044	0.0009832	152	154602	rs200655657	0.0008	0.0008	0.0006	0.0010	0.0044	0.0007	0.0007	0.0040	0.0039	0	0.0003	0	0	0.0002	0.0004	0.0006	0.0004	0.0044	0.0006	0.0006	0.0006	0.0007	0.0052	0.0005	0.0005	0.0036	0.0031	9.623e-05	0	0.0002	0	0	9.439e-05	0	0.0009	0	0.0052	0.577	0.06049	T	0.523	0.10354	T	0.445	0.35971	B	0.192	0.36449	B	0.000004	0.62929	U	0.062767	1	0.08975	N	1.245	0.31408	L	-0.15	0.65192	T	-0.7	0.19933	N	0.048	0.01999	-0.9909	0.32373	T	0.115	0.40875	T	9	0.0055470765	0.00123	T	0.098653	0.76978	D	0.077	0.22490	.	.	0.250039746154	0.24611	0.2126605217189457	0.21182	1.87457451814	0.92549	0.784617960453	0.79625	T	0.066272	0.32904	T	-0.593627	0.00159	T	-0.625625	0.10748	T	0.00990797452730018	0.00131	T	0.29797	0.05545	T	0.058461156	0.11763	0.10907799	0.26284	0.058461156	0.11763	0.10907799	0.26283	-6.455	0.49938	T	.	.	0.073	0.04723	B	.	.	1.357816	0.17661	13.30	0.95171454012810597	0.26329	0.06843	0.12868	N	AEFDBCI	0.052350	0.09336	N	-1.20408269779089	0.04940	0.2240497	-1.33768082793524	0.03953	0.1854718	0.999985100272497	0.51787	0.59774	0.34471	0	0.491552	0.07993	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.37	-3.17	0.04882	0.286000	0.18660	0.179000	0.15609	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.315000	0.24854	0.0:0.233:0.4775:0.2896	6.507	0.21399	697	0.58201	TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1900.33	58	chr1	39492274	.	G	A	1900.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.501;DP=1037;ExcessHet=0;FS=4.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=0.107;QD=11.88;ReadPosRankSum=-0.669;SOR=0.408	GT:AD:DP:GQ:PL	0/1:75,85:160:99:1914,0,1646	18	0	1	0
chr1	44139230	44139230	G	A	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.C2402T:p.S801F	.	1131	390	1	0	0	1	0.00128041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0199681	.	.	.	.	.	.	.	.	0.0039189	102	26028	rs538450249	0.0015	0.0040	0.0017	0.0014	0.0102	0.0014	0.0014	0.0091	0.0086	0.0011	0.0087	0.0009	0.0102	0.0017	0	0.0002	0.0017	0.0013	0.0016	0.0047	0.0013	0.0019	0.0078	0.0014	0.0014	0.0058	0.0051	0.0014	0	0.0063	0.0006	0.0078	0.0021	0	0.0004	0.0015	0.0013	.	.	.	0.722	0.05309	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.22870	.	.	.	.	.	.	.	0.005810499	0.00130	T	.	.	.	.	.	.	.	.	.	0.03398565989130853	0.03346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428457	0.11587	T	0.04353749	0.06802	0.08118921	0.18430	0.04353749	0.06801	0.08118921	0.18429	-9.018	0.67813	D	.	.	0.424	0.60905	A	.	.	0.114804	0.05136	1.660	0.57284197864999054	0.05735	0.00181	0.01060	N	AEFGBI	.	.	.	.	.	.	.	.	.	1.3897062531122E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0491283	0.08825	2.44	-2.47	0.06070	-0.641000	0.05531	-5.278000	0.01779	0.347000	0.19874	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.5162:0.1985:0.2853:0.0	3.658	0.07766	220	0.91454	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	457.33	304	chr1	44139230	.	G	A	457.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=6592;ExcessHet=0;FS=15.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.25;MQRankSum=-1.949;QD=1.46;ReadPosRankSum=-4.114;SOR=1.86	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,33:313:99:0|1:44139230_G_A:471,0,11420:44139230	18	0	1	0
chr1	44139240	44139240	C	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G2392A:p.V798M	.	1135	386	1	0	0	1	0.00129366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1443073694	0.0006	0.0039	0.0006	0.0006	0.0044	0.0005	0.0005	0.0037	0.0034	0.0005	0.0043	0	0.0044	0.0005	0	1.965e-05	0.0005	0	0.0013	0.0047	0.0012	0.0014	0.0058	0.0011	0.0010	0.0047	0.0043	0.0012	0	0.0058	0.0003	0.0054	0.0010	0.0051	0.0003	0	0.0005	.	.	.	0.297	0.20551	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.057735562	0.06678	T	.	.	.	.	.	.	.	.	.	0.008777051441396275	0.00841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311269	0.06060	T	0.017676644	0.00293	0.06578719	0.13383	0.017676644	0.00293	0.06578719	0.13383	-5.322	0.40160	T	.	.	0.125	0.26325	B	.	.	-1.432071	0.00338	0.006	0.51283476527038241	0.04535	0.00086	0.00577	N	AEFGBI	.	.	.	.	.	.	.	.	.	6.11788210062765E-4	0.07460	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0491283	0.08825	3.12	-6.23	0.01875	-3.518000	0.00495	-6.339000	0.01426	-1.578000	0.00923	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4763:0.0:0.5237	10.645	0.44807	220	0.91454	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	319.33	304	chr1	44139240	.	C	T	319.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.51;DP=6584;ExcessHet=0;FS=20.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.82;MQRankSum=-1.352;QD=1.04;ReadPosRankSum=-5.06;SOR=2.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,28:308:99:0|1:44139230_G_A:333,0,11659:44139230	18	0	1	0
chr1	44139574	44139574	C	G	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G2058C:p.M686I	.	1147	372	2	0	1	3	0.00268097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0369409	.	.	.	.	.	.	.	.	0.0088751	231	26028	rs182198560	0.0098	0.0040	0.0100	0.0095	0.0617	0.0094	0.0093	0.0590	0.0579	0.0097	0.0496	0.0029	0.0617	0.0111	0.0023	0.0013	0.0079	0.0100	0.0030	0.0035	0.0025	0.0035	0.0127	0.0028	0.0027	0.0107	0.0101	0.0027	0	0.0122	0.0012	0.0127	0.0051	0	0.0005	0.0025	0.0034	.	.	.	0.36	0.16964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.25499	.	.	.	.	.	.	.	0.0030316412	0.00050	T	.	.	.	.	.	.	.	.	.	0.03254712386023689	0.03202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410759	0.10626	T	0.2873516	0.51746	0.29309183	0.55338	0.2873516	0.51746	0.29309183	0.55337	-5.589	0.42692	T	.	.	0.472	0.63258	A	.	.	0.469565	0.08392	5.146	0.62917458612171839	0.07086	0.08849	0.14716	N	AEFGBI	.	.	.	.	.	.	.	.	.	1.53667691370081E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0924712	0.20834	3.25	1.24	0.20416	0.428000	0.21114	-4.297000	0.02231	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.7649:0.0:0.2351	7.713	0.27853	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	7989.33	461	chr1	44139574	.	C	G	7989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.101;DP=6283;ExcessHet=0;FS=4.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.57;MQRankSum=-3.263;QD=16.47;ReadPosRankSum=1.79;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,226:485:99:0|1:44139533_G_A:8003,0,10007:44139533	18	0	1	0
chr1	44139585	44139585	C	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G2047A:p.G683R	.	1141	378	2	0	1	3	0.00263852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0371406	.	.	.	.	.	.	.	.	0.0096435	251	26028	rs187231823	0.0098	0.0039	0.0100	0.0096	0.0621	0.0095	0.0093	0.0594	0.0583	0.0097	0.0493	0.0030	0.0621	0.0111	0.0023	0.0014	0.0078	0.0100	0.0031	0.0033	0.0026	0.0036	0.0135	0.0028	0.0027	0.0107	0.0100	0.0028	0	0.0120	0.0009	0.0135	0.0051	0	0.0005	0.0030	0.0035	.	.	.	0.406	0.14725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	0.003571391	0.00065	T	.	.	.	.	.	.	.	.	.	0.013968648807856695	0.01353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438156	0.12052	T	0.032491583	0.03285	0.08778599	0.20428	0.032491583	0.03284	0.08778599	0.20427	-6.566	0.50793	T	.	.	0.285	0.51738	B	.	.	0.137044	0.05316	1.807	0.45277135155546328	0.03542	0.00179	0.01050	N	AEFGBI	.	.	.	.	.	.	.	.	.	8.96914444952083E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0504749	0.09761	3.25	1.32	0.20897	-1.477000	0.02437	-12.439000	0.00525	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2036:0.5626:0.0:0.2338	3.410	0.06930	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4020.33	461	chr1	44139585	.	C	T	4020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=6287;ExcessHet=0;FS=4.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.01;MQRankSum=-3.212;QD=9.18;ReadPosRankSum=3.58;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,178:438:99:0|1:44139533_G_A:4034,0,9729:44139533	18	0	1	0
chr1	44139608	44139608	G	A	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.C2024T:p.S675F	.	1130	389	2	0	1	3	0.0025641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0377396	.	.	.	.	.	.	.	.	0.0128708	335	26028	rs139721762	0.0098	0.0039	0.0101	0.0095	0.0624	0.0095	0.0093	0.0596	0.0585	0.0097	0.0497	0.0029	0.0624	0.0111	0.0023	0.0013	0.0080	0.0100	0.0034	0.0036	0.0029	0.0039	0.0155	0.0032	0.0031	0.0126	0.0115	0.0032	0	0.0131	0.0015	0.0155	0.0054	0	0.0005	0.0024	0.0043	.	.	.	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.24135	.	.	.	.	.	.	.	0.0036884546	0.00068	T	.	.	.	.	.	.	.	.	.	0.035404709908614586	0.03487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565643	0.19997	T	0.058459826	0.11763	0.076747954	0.17030	0.058459826	0.11763	0.076747954	0.17030	-8.991	0.67639	D	.	.	0.701	0.73012	P	.	.	0.960524	0.13370	9.875	0.5916804899946787	0.06161	0.00298	0.01590	N	AEFGBI	.	.	.	.	.	.	.	.	.	1.13813868793235E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0497025	0.09175	2.91	0.778	0.17688	0.094000	0.14946	-7.622000	0.01119	-0.301000	0.06190	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4625:0.0:0.5375:0.0	3.992	0.09032	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5287.33	461	chr1	44139608	.	G	A	5287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.143;DP=6286;ExcessHet=0;FS=3.262;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.6;MQRankSum=-4.778;QD=10.81;ReadPosRankSum=6.48;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,225:489:99:0|1:44139533_G_A:5301,0,9250:44139533	18	0	1	0
chr1	44140024	44140065	AGTAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	-	exonic	KLF18	.	nonframeshift deletion	KLF18:NM_001358438:exon1:c.1567_1608del:p.G523_T536del	.	1122	398	2	0	0	2	0.00250627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0025	0.0014	0.0012	0.0076	0.0012	0.0011	0.0067	0.0063	0.0001	0.0073	0.0007	0.0076	0.0016	0	0.0002	0.0011	0.0024	0.0003	0.0006	0.0002	0.0004	0.0016	0.0002	0.0002	0.0009	0.0007	0	0	0.0014	0	0.0016	0.0009	0	7.662e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	563.29	180	chr1	44140023	.	TAGTAGAGGTTGTCATCTGCCCCCCGTAGAGGGCCTGGTTACC	T	563.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.14;DP=4189;ExcessHet=0;FS=10.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.31;MQRankSum=-9.242;QD=1.39;ReadPosRankSum=-4.75;SOR=1.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,42:405:99:1|0:44139992_G_A:577,0,14967:44139992	18	0	1	0
chr1	44140213	44140213	-	CCACAGAGGGTCTGGTTACTAGTGGGGGTCGTCATCTGCTCT	exonic	KLF18	.	nonframeshift insertion	KLF18:NM_001358438:exon1:c.1418_1419insAGAGCAGATGACGACCCCCACTAGTAACCAGACCCTCTGTGG:p.Q475_V476insMTTPTSNQTLCGEQ	.	1138	382	2	0	0	2	0.00261097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0013	0.0026	0.0022	0.0158	0.0022	0.0022	0.0144	0.0138	0	0.0127	0.0007	0.0158	0.0039	0	0.0003	0.0015	0.0017	0.0003	0.0008	0.0003	0.0003	0.0019	0.0002	0.0002	0.0013	0.0011	5.348e-05	0	0.0019	0	0.0012	0.0007	0	4.68e-05	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4129.29	180	chr1	44140213	.	C	CCCACAGAGGGTCTGGTTACTAGTGGGGGTCGTCATCTGCTCT	4129.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=4207;ExcessHet=0;FS=5.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.76;MQRankSum=-3.424;QD=11.07;ReadPosRankSum=-12.88;SOR=0.827	GT:AD:DP:GQ:PL	0/1:252,121:373:99:4143,0,9634	18	0	1	0
chr1	44140286	44140324	ATCACTTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAG	-	exonic	KLF18	.	nonframeshift deletion	KLF18:NM_001358438:exon1:c.1308_1346del:p.S437_M449del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0004	0.0007	0.0006	0.0045	0.0006	0.0006	0.0038	0.0035	0.0002	0.0031	0.0004	0.0045	0.0009	0.0009	4.977e-05	0.0003	0.0007	7.52e-06	0.0002	0	1.536e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3096.29	180	chr1	44140285	.	CATCACTTGCTCTCCACAGAGGTTCTGGTTACCAGTGGAG	C	3096.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=4111;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.59;MQRankSum=-1.113;QD=16.21;ReadPosRankSum=0.016;SOR=0.593	GT:AD:DP:GQ:PL	0/1:84,107:203:99:3110,0,3737	18	0	1	0
chr1	44140329	44140331	TCA	-	exonic	KLF18	.	nonframeshift deletion	KLF18:NM_001358438:exon1:c.1301_1303del:p.M434del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0005	0.0040	0.0028	0.0206	0.0030	0.0028	0.0138	0.0124	0	0.0206	0.0021	0.0161	0.0053	0	0.0006	0.0014	0.0045	5.135e-05	0.0009	0	0.0001	.	0	0	.	.	0	0	0	0.0019	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2024.94	154	chr1	44140328	.	GTCA	G	2024.94	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.337;DP=3826;ExcessHet=0;FS=0;InbreedingCoeff=-0.0299;MLEAC=2;MLEAF=0.25;MQ=49.06;MQRankSum=0.335;QD=27.92;ReadPosRankSum=2.07;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,53:124:23:0|1:44140328_GTCA_*:4259,0,23:44140328	3	0	1	15
chr1	44140337	44140337	C	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G1295A:p.G432E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027663	72	26028	rs71653907	0.0014	0.0010	0.0017	0.0012	0.0067	0.0013	0.0012	0.0054	0.0050	0.0003	0.0067	0.0013	0.0064	0.0020	0	0.0005	0.0008	0.0022	0.0001	0.0008	0.0002	3.719e-05	0.0004	4.591e-05	3.087e-05	6.864e-05	2.871e-05	0.0003	0	0.0004	0.0006	0	0	0	2.949e-05	0	0	.	.	.	0.089	0.40426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.060504645	0.07443	T	.	.	.	.	.	.	.	.	.	0.24862539599642428	0.24776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360864	0.08314	T	0.061698377	0.12805	0.110545546	0.26657	0.061698377	0.12805	0.110545546	0.26656	-6.05	0.46695	T	.	.	0.211	0.43909	B	.	.	0.057708	0.04695	1.336	0.37343130337880764	0.02455	0.00757	0.03139	N	AEFBI	.	.	.	.	.	.	.	.	.	1.77418345474526E-6	0.01202	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	2.32	0.381	0.15451	-0.866000	0.04354	-20.000000	0.00162	-4.196000	0.00038	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6874:0.0:0.3126	5.327	0.15217	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1924.86	129	chr1	44140337	.	C	T	1924.86	.	AC=2;AF=0.067;AN=30;BaseQRankSum=0.472;DP=3399;ExcessHet=0;FS=0;InbreedingCoeff=0.4412;MLEAC=1;MLEAF=0.033;MQ=48.75;MQRankSum=0.335;QD=34.37;ReadPosRankSum=2.69;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,53:124:56:1|1:44140328_GTCA_*:4319,56,0:44140328	14	1	0	4
chr1	44140359	44140359	C	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.G1273A:p.G425S	.	41	183	1	0	1	2	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035347	92	26028	rs2995020	0.0017	0.0006	0.0019	0.0014	0.0104	0.0015	0.0014	0.0074	0.0064	0	0.0104	0.0007	0.0078	0.0024	0	0.0004	0.0007	0.0023	8.41e-05	0.0007	0.0001	5.955e-05	0.0006	2.229e-05	1.218e-05	.	.	0	0	0	0.0009	0.0006	0	0	4.484e-05	0	0	.	.	.	0.45	0.12957	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.10483	.	.	.	.	.	.	.	0.07135722	0.10508	T	.	.	.	.	.	.	.	.	.	0.0563933500996596	0.05580	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378362	0.09086	T	0.029444477	0.02440	0.062172353	0.12121	0.029444477	0.02440	0.062172353	0.12121	-8.042	0.61356	D	.	.	0.121	0.25067	B	.	.	-0.914039	0.00902	0.033	0.31517029595806145	0.01780	0.00945	0.03645	N	AEFBI	.	.	.	.	.	.	.	.	.	3.8161378552613E-6	0.01202	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	2.32	-2.28	0.06438	-0.647000	0.05495	-3.589000	0.02674	-6.139000	0.00005	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1916:0.4122:0.0:0.3962	3.054	0.05805	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1927.18	87	chr1	44140359	.	C	T	1927.18	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.096;DP=2429;ExcessHet=0;FS=0;InbreedingCoeff=0.2706;MLEAC=2;MLEAF=0.143;MQ=48.43;MQRankSum=1.91;QD=33.23;ReadPosRankSum=3.41;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,53:126:15:1|1:44140328_GTCA_*:4272,15,0:44140328	6	1	0	12
chr1	44140893	44140893	A	0	exonic	KLF18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	148430.0	631	chr1	44140893	.	A	*	148430.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.706;DP=8521;ExcessHet=3.6106;FS=0.555;InbreedingCoeff=-0.1709;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=-0.926;QD=18.3;ReadPosRankSum=0.973;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,217:459:99:1|0:44140851_GGGTCTGGTTACCAGTGGAGGTCGTCATCTGTCTCCCGTAGAA_G:15612,7581,9698:44140851	18	0	1	0
chr1	46405737	46405737	G	A	exonic	FAAH	.	nonsynonymous SNV	FAAH:NM_001441:exon5:c.G728A:p.R243H	.	401	1118	3	0	0	3	0.00133988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.948	0.462428232126	0.0010	0.000798722	0.0009	0.0003	0.0003	0	0.0005	0.0011	0	0.0017	0.0008732	135	154602	rs114795065	0.0015	0.0015	0.0015	0.0015	0.0018	0.0014	0.0014	0.0016	0.0016	0.0003	0.0003	7.652e-05	0	0.0003	0	0.0017	0.0012	0.0018	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0005	0.0010	0.0009	0.0002	0	0.0003	0	0	0.0002	0	0.0012	0.0005	0.0017	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.335	0.98404	H	-1.61	0.82254	D	-4.39	0.77225	D	0.961	0.97095	0.979	0.96850	D	0.830	0.94281	D	10	0.61599773	0.67709	D	0.462428	0.94537	D	0.948	0.98990	.	.	.	.	0.9485317088947635	0.94836	1.19142493621	0.80287	0.642395973206	0.58904	T	0.503788	0.82313	D	0.135143	0.67860	D	0.39672	0.92006	D	0.236844515338403	0.22273	T	0.969503	0.89043	D	0.980602	0.99155	0.9083343	0.95570	0.980602	0.99155	0.9083343	0.95570	-10.728	0.78145	D	.	.	0.899	0.82674	P	.	.	5.358666	0.89874	31	0.9995874376773829	0.99990	0.98278	0.81195	D	AEFDBI	0.930498	0.91789	D	0.946169738867324	0.93831	12.30762	0.810706251986639	0.90530	10.44847	0.999999999999325	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.33	4.33	0.51083	6.875000	0.75352	8.683000	0.78050	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	17.016	0.86291	94	0.96106	Amidase signature domain|Amidase, 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	.	.	.	.	.	.	.	.	0.02632	1087.33	35	chr1	46405737	.	G	A	1087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.708;DP=743;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.006;SOR=0.826	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1101,0,1210	18	0	1	0
chr1	46934102	46934102	A	G	exonic	CYP4A11	.	nonsynonymous SNV	CYP4A11:NM_001363587:exon7:c.T772C:p.C258R	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000899209928536	.	.	9.015e-05	0	0	0	0	5.44e-05	0	0.0004	3.84e-05	1	26028	rs781516826	4.796e-05	4.857e-05	2.862e-05	6.75e-05	0.0009	3.866e-05	3.545e-05	0.0003	0.0003	2.993e-05	2.257e-05	0	0	0	0.0009	1.98e-05	4.975e-05	0.0004	1.977e-05	1.971e-05	2.576e-05	1.35e-05	0.0002	5.26e-06	2.46e-06	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0.0002	.	.	.	0.572	0.08746	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.07159689	0.10576	T	8.99E-4	0.00844	T	.	.	.	.	0.50727153398	0.50365	.	.	.	.	.	.	.	.	.	.	-0.688447	0.00043	T	-0.90861	0.00444	T	.	.	.	0.239776	0.03423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34272	B	.	.	0.191591	0.05775	2.219	0.39900842283918209	0.02782	0.00179	0.01050	N	AEFDI	.	.	.	.	.	.	.	.	.	3.39496819867131E-4	0.06583	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	4.7	-5.04	0.02742	-1.620000	0.02148	-20.000000	0.00162	-0.097000	0.15994	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3551:0.3518:0.293:0.0	5.997	0.18729	591	0.68823	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1822.33	35	chr1	46934102	.	A	G	1822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.795;DP=874;ExcessHet=0;FS=5.368;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.93;MQRankSum=-2.219;QD=14.02;ReadPosRankSum=1.44;SOR=0.859	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1836,0,1620	18	0	1	0
chr1	52354897	52354897	C	T	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon22:c.G2282A:p.R761Q,CC2D1B:NM_032449:exon22:c.G2300A:p.R767Q	.	426	1092	4	0	0	4	0.00182815	.	.	.	3292198	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.445	0.00858312590176	.	.	0.0002	0.0002	0	0	0.0002	7.492e-05	0	0.0012	0.0001876	29	154602	rs768400113	0.0001	0.0001	9.256e-05	0.0001	0.0010	0.0001	9.633e-05	0.0008	0.0008	5.974e-05	0	0	0	3.744e-05	0.0002	6.115e-05	0.0001	0.0010	3.944e-05	3.94e-05	3.854e-05	4.038e-05	0.0006	1.716e-05	1.13e-05	0.0002	8.989e-05	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0006	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.94	0.84723	M	1.71	0.26737	T	-3.83	0.72120	D	0.829	0.86191	-0.6952	0.60666	T	0.215	0.57652	T	10	0.55646604	0.64545	D	0.008583	0.22680	T	0.518	0.79461	.	.	0.59105502098	0.58781	0.6389303756603245	0.63827	0.23410116099	0.25944	0.654554188251	0.60632	T	0.396933	0.75543	T	-0.0620603	0.42585	T	0.0525733	0.73754	D	0.616814374923706	0.37076	D	0.985701	0.96302	D	0.6450367	0.75099	0.5828329	0.75815	0.6450367	0.75100	0.5828329	0.75816	-10.691	0.77936	D	.	.	0.671	0.74667	P	.;.	.;.	6.200347	0.94779	34	0.99956444390763921	0.99981	0.97518	0.75271	D	AEFDBCI	0.883249	0.81200	D	0.934397011319063	0.93340	11.97484	0.901684505402207	0.95646	13.82421	0.999999999996017	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	7.497000	0.80382	7.625000	0.62478	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.914	0.97044	353	0.85335	C2 domain|C2 domain|Freud, 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1976.33	36	chr1	52354897	.	C	T	1976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=871;ExcessHet=0;FS=1.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.887;SOR=0.835	GT:AD:DP:GQ:PL	0/1:88,81:169:99:1990,0,1912	18	0	1	0
chr1	52475424	52475424	G	A	exonic	TUT4	.	nonsynonymous SNV	TUT4:NM_001009881:exon13:c.C2135T:p.T712M,TUT4:NM_015269:exon13:c.C2135T:p.T712M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00851745965507	.	.	1.652e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs780205463	1.163e-05	1.163e-05	4.084e-06	1.925e-05	4.637e-05	7.08e-06	5.79e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	9.892e-06	3.312e-05	4.637e-05	1.977e-05	1.972e-05	0	4.048e-05	6.564e-05	5.26e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.564e-05	0	0	0	0	2.942e-05	0	0	0.08	0.33585	T	0.084	0.43721	T	0.074	0.24142	B	0.002	0.08700	B	0.005116	0.33089	N	0.389938	0.999922	0.19486	N	0	0.06538	N	0.54	0.54911	T	-1.2	0.30555	N	0.083	0.05929	-1.1225	0.02179	T	0.055	0.23300	T	10	0.055628985	0.06110	T	0.008517	0.22532	T	0.037	0.09474	0.336	0.32491	0.19168177325	0.18762	0.3722690833693744	0.37140	0.126449546592	0.14255	0.34347191453	0.16957	T	0.050428	0.28592	T	-0.210716	0.19279	T	-0.524969	0.19792	T	0.057190942879363	0.06720	T	0.717128	0.32987	T	0.016883826	0.00229	0.037210103	0.03327	0.016883826	0.00229	0.037210103	0.03327	-3.447	0.15697	T	.	.	0.083	0.11510	B	.;.;.;.	.;.;.;.	1.342306	0.17492	13.19	0.81184719174458175	0.13561	0.76475	0.37509	D	AEFDGBI	0.098350	0.19820	N	-1.20362401722967	0.04946	0.2243781	-1.02110426397212	0.09322	0.4631013	0.257299173496263	0.18749	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.59	-0.822	0.10273	0.203000	0.17113	-0.090000	0.12069	-1.821000	0.00601	0.958000	0.33488	0.001000	0.17328	0.939000	0.47918	0.1093:0.474:0.1068:0.3098	2.729	0.04899	283	0.88803	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2180.33	33	chr1	52475424	.	G	A	2180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.297;DP=770;ExcessHet=0;FS=2.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.777;SOR=0.947	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2194,0,1724	18	0	1	0
chr1	54139840	54139840	C	-	exonic	CDCP2	.	stopgain	CDCP2:NM_001353655:exon5:c.1030delG:p.V344*,CDCP2:NM_201546:exon5:c.1030delG:p.V344*	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.919e-05	0	0	0.0006	0	7.517e-05	0	0.0001	.	.	.	rs756153513	5.541e-05	5.541e-05	4.22e-05	6.876e-05	0.0005	4.543e-05	4.155e-05	0.0004	0.0003	0	0	0.0002	0.0005	1.873e-05	0.0002	2.878e-05	0.0001	0.0002	0.0001	0.0001	6.426e-05	0.0002	0.0014	7.573e-05	6.279e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0.0001	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1878.29	37	chr1	54139839	.	AC	A	1878.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.766;DP=922;ExcessHet=0;FS=1.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=-1.068;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,50:115:99:0|1:54139839_AC_A:1892,0,2555:54139839	18	0	1	0
chr1	74706358	74706358	C	T	exonic	CRYZ	.	nonsynonymous SNV	CRYZ:NM_001134759:exon7:c.G517A:p.E173K,CRYZ:NM_001130043:exon8:c.G826A:p.E276K,CRYZ:NM_001889:exon9:c.G928A:p.E310K,CRYZ:NM_001130042:exon10:c.G928A:p.E310K	.	437	1047	36	2	0	40	0.0187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0003	0.00379393	0.0028	9.664e-05	0.0005	0.0006	0	0.0006	0.0011	0.0179	0.002445	378	154602	rs149746412	0.0013	0.0014	0.0007	0.0020	0.0180	0.0013	0.0013	0.0173	0.0170	5.984e-05	0.0003	0.0014	0.0003	5.618e-05	0.0083	0.0002	0.0015	0.0180	0.0008	0.0009	0.0004	0.0013	0.0170	0.0007	0.0007	0.0140	0.0129	0.0001	0	0.0002	0.0009	0.0008	0	0.0068	0.0004	0.0024	0.0170	0.53	0.10909	T	0.701	0.05707	T	0.001	0.07471	B	0.001	0.04355	B	0.001396	0.39175	N	0.254298	0.998912	0.23718	N	0.505	0.13445	N	1.05	0.39990	T	-0.9	0.24244	N	0.097	0.15046	-0.9674	0.37733	T	0.021	0.08963	T	10	0.008682281	0.00197	T	.	.	.	0.036	0.09122	.	.	0.439870908748	0.43606	0.6728538042468933	0.67223	0.112942714915	0.12750	0.30759459734	0.11544	T	0.078006	0.35790	T	-0.543529	0.00319	T	-0.539238	0.18372	T	0.0046506914096409	0.00050	T	0.862114	0.59504	D	0.058851995	0.11889	0.062441003	0.12215	0.058851995	0.11888	0.062441003	0.12215	-7.303	0.58576	T	.	.	0.097	0.16756	B	.;.;.;.	.;.;.;.	1.152326	0.15405	11.83	0.86864422938112251	0.16825	0.43102	0.27024	N	AEFBI	0.073552	0.14716	N	-0.907138259915369	0.10674	0.5112207	-0.818598049181867	0.14045	0.7318515	0.172946808966609	0.17762	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.04	1.91	0.24841	1.368000	0.33820	1.957000	0.29917	-1.089000	0.01541	0.955000	0.33325	0.985000	0.30750	0.483000	0.28633	0.0:0.3499:0.4219:0.2281	10.032	0.41282	673	0.60677	.;Polyketide synthase, enoylreductase domain;Polyketide synthase, enoylreductase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.000000	0.011696	0.000000	0.008621	0.006098	0.015152	0.07895	3529.79	37	chr1	74706358	.	C	T	3529.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.264;DP=910;ExcessHet=0.3672;FS=1.343;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.42;SOR=0.749	GT:AD:DP:GQ:PL	0/1:65,45:110:99:980,0,1493	16	0	3	0
chr1	86438966	86438966	G	T	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon7:c.G1063T:p.D355Y	.	423	1086	12	0	1	13	0.00549451	.	.	.	2808988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0365563410494	0.0041	0.00219649	0.0039	0.0007	0.0011	0	0.0015	0.0052	0.0077	0.0053	0.003758	581	154602	rs55906076	0.0040	0.0040	0.0038	0.0042	0.0067	0.0039	0.0039	0.0063	0.0061	0.0004	0.0017	0.0077	0	0.0016	0.0019	0.0042	0.0039	0.0067	0.0028	0.0028	0.0030	0.0026	0.0048	0.0026	0.0025	0.0037	0.0036	0.0010	0	0.0027	0.0081	0.0006	0.0009	0	0.0041	0.0024	0.0048	0.002	0.72154	D	0.007	0.69154	D	0.707	0.42016	P	0.297	0.40924	B	0.241412	0.15703	N	0.659654	1	0.08975	N	2.38	0.68558	M	-0.39	0.69158	T	-4.51	0.78222	D	0.422	0.46180	-0.9648	0.38250	T	0.098	0.36728	T	10	0.018166423	0.00393	T	0.036556	0.57066	D	0.140	0.37593	.	.	0.369682402691	0.36581	0.46699625617902873	0.46618	0.21499238779	0.24033	0.291769534349	0.09180	T	0.321656	0.69273	T	-0.370775	0.03555	T	-0.302757	0.44433	T	0.0506806068041719	0.05619	T	0.687031	0.29593	T	0.10298611	0.24339	0.15780772	0.36881	0.10298611	0.24339	0.15780772	0.36880	-9.152	0.68670	D	.	.	0.189	0.40698	B	.	.	1.084817	0.14682	11.23	0.97248128504294673	0.33029	0.04210	0.09722	N	AEFBI	0.078339	0.15804	N	-0.81498642951122	0.12927	0.6333836	-0.989298611799586	0.10024	0.5023379	0.0124267958443077	0.12326	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.92	-2.97	0.05195	0.101000	0.15088	-0.126000	0.11669	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3835:0.1146:0.3902:0.1117	3.290	0.06538	732	0.54084	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.002924	0.000000	0.000000	0.003049	0.026515	0.02632	1560.33	34	chr1	86438966	.	G	T	1560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=767;ExcessHet=0;FS=3.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.391;SOR=0.844	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1574,0,1664	18	0	1	0
chr1	88983535	88983535	G	A	exonic	RBMXL1	.	nonsynonymous SNV	RBMXL1:NM_019610:exon2:c.C292T:p.P98S,RBMXL1:NM_001162536:exon3:c.C292T:p.P98S	.	423	1084	15	0	0	15	0.00687128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0088	0.00299521	0.0073	0.0012	0.0032	0.0001	0.0073	0.0114	0.0033	0.0016	0.0072573	1122	154602	rs113402009	0.0087	0.0087	0.0088	0.0085	0.0096	0.0085	0.0085	0.0095	0.0094	0.0012	0.0035	0.0250	0	0.0096	0.0052	0.0096	0.0083	0.0012	0.0065	0.0065	0.0067	0.0062	0.0098	0.0061	0.0060	0.0092	0.0090	0.0016	0.0055	0.0037	0.0242	0	0.0077	0.0068	0.0098	0.0057	0.0014	0.243	0.17526	T	0.298	0.20486	T	0.917	0.50750	P	0.521	0.48239	P	0.000390	0.44960	U	0.148304	1	0.81001	D	1.495	0.37439	L	-0.76	0.73417	T	-1.72	0.40850	N	0.248	0.28146	-0.9217	0.45320	T	0.171	0.51277	T	10	0.006085187	0.00137	T	.	.	.	0.166	0.42578	.	.	0.773923737282	0.77185	0.35326216389277176	0.35240	0.409694445315	0.41782	0.538016200066	0.44165	T	0.017882	0.14511	T	-0.456526	0.01033	T	-0.418157	0.31286	T	0.0301630122543435	0.02015	T	0.723828	0.33737	T	0.039401993	0.05434	0.049239166	0.07482	0.039401993	0.05433	0.049239166	0.07482	-7.839	0.59968	D	.	.	0.092	0.14108	B	.;.;.	.;.;.	1.450331	0.18712	13.89	0.92035806174464796	0.21376	0.55361	0.29845	D	AEFDBCI	0.090827	0.18402	N	-0.253051684126263	0.30981	1.732766	-0.421397819206603	0.24370	1.334144	0.999894782523669	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.76	0.778	0.17688	2.792000	0.47528	9.791000	0.81645	0.269000	0.18496	1.000000	0.71638	1.000000	0.68203	0.029000	0.12982	0.2429:0.0:0.7571:0.0	3.970	0.08940	813	0.42397	.;.;.	.	.	.	.	rs113402009	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.015152	0.004076	0.008772	0.000000	0.008621	0.000000	0.003788	0.02632	1539.33	37	chr1	88983535	.	G	A	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.415;DP=850;ExcessHet=0;FS=0.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.77;MQRankSum=3.06;QD=15.55;ReadPosRankSum=-0.608;SOR=0.542	GT:AD:DP:GQ:PL	0/1:44,55:99:99:1553,0,1296	18	0	1	0
chr1	92961389	92961389	G	A	exonic	DIPK1A	.	nonsynonymous SNV	DIPK1A:NM_001006605:exon1:c.C41T:p.P14L,DIPK1A:NM_001252269:exon1:c.C41T:p.P14L,DIPK1A:NM_001252270:exon1:c.C41T:p.P14L,DIPK1A:NM_001252273:exon1:c.C41T:p.P14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.512751844089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.451e-06	4.104e-06	1.441e-06	1.46e-06	2.513e-05	2.4e-07	9e-08	4.17e-06	1.56e-06	0	0	0	0	0	0	0	0	2.513e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.739	0.18505	T	.	.	.	.	.	.	0.084063	0.20717	U	0.421727	0.999138	0.46149	D	.	.	.	1.01	0.41058	T	-0.32	0.12283	N	0.413	0.50508	-1.0715	0.09086	T	0.021	0.08870	T	10	0.17088467	0.31777	T	0.512752	0.95327	D	0.070	0.20419	0.369	0.37850	0.434606191737	0.43079	0.4976935996060162	0.49690	0.366662604829	0.38238	0.751447021961	0.74660	T	.	.	.	-0.139271	0.30006	T	-0.437829	0.29053	T	0.1630520187483	0.18094	T	0.849215	0.53152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47955	B	.;.;.;.	.;.;.;.	3.051090	0.40936	21.3	0.96424039107578674	0.29768	0.50316	0.28634	D	ALL	0.084992	0.17228	N	-0.524773930952446	0.21281	1.128236	-0.382424257582383	0.25520	1.403989	0.999999895019711	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.52208	0.10781	0	0.618803	0.45993	0	.	.	3.23	2.18	0.26813	1.725000	0.37696	7.105000	0.57548	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:0.0:0.7294:0.2705	7.021	0.24091	408	0.82256	.;FAM69, N-terminal|FAM69, N-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	437.33	47	chr1	92961389	.	G	A	437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.338;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=2.19;SOR=0.693	GT:AD:DP:GQ:PL	0/1:43,25:68:99:451,0,981	18	0	1	0
chr1	100133188	100133188	C	T	exonic	TRMT13	.	nonsynonymous SNV	TRMT13:NM_019083:exon1:c.C20T:p.S7L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0174999103981	0.0024	0.00199681	0.0024	0.0004	0.0014	0	0.0023	0.0038	0.0033	0.0004	0.0025808	399	154602	rs141081618	0.0033	0.0033	0.0034	0.0033	0.0040	0.0033	0.0032	0.0039	0.0038	0.0007	0.0017	0.0031	0	0.0021	0	0.0040	0.0022	0.0003	0.0024	0.0024	0.0025	0.0023	0.0050	0.0022	0.0021	0.0041	0.0038	0.0006	0	0.0050	0.0017	0.0002	0.0009	0	0.0036	0.0014	0	0.01	0.56456	D	0.042	0.50226	D	0.0	0.02946	B	0.0	0.01387	B	0.947602	0.07634	N	1.022660	1	0.08975	N	1.245	0.31408	L	0.87	0.46777	T	-1.4	0.37566	N	0.241	0.27197	-0.9853	0.33760	T	0.040	0.17063	T	10	0.0051888227	0.00113	T	0.018	0.39223	T	0.095	0.27398	.	.	0.280987212366	0.27714	0.27849445301354714	0.27762	0.152770602881	0.17239	0.314561545849	0.12597	T	0.028777	0.20767	T	-0.447833	0.01163	T	-0.415242	0.31621	T	0.0366320359218139	0.03091	T	0.782822	0.41925	T	0.05831154	0.11715	0.10372823	0.24896	0.05831154	0.11715	0.10372823	0.24896	-4.57	0.31792	T	.	.	0.084	0.10545	B	.;.	.;.	1.504763	0.19339	14.21	0.98235579975083209	0.39431	0.01490	0.04948	N	ALL	0.067326	0.13228	N	-0.988177080746406	0.08856	0.4168329	-0.972377944148886	0.10408	0.5240324	0.999999999999986	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.79	2.87	0.32523	0.109000	0.15252	0.136000	0.15109	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.8196:0.0:0.1804	9.139	0.36056	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2470.33	35	chr1	100133188	.	C	T	2470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.763;DP=856;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.11;SOR=0.532	GT:AD:DP:GQ:PL	0/1:90,101:191:99:2484,0,2152	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|1:81,9:90:81:0|1:109508616_G_C:81,0,3258:109508616	7	0	10	2
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	70.16	37	chr1	109508617	.	T	C	70.16	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.504;DP=1221;ExcessHet=0.3672;FS=66.503;InbreedingCoeff=-0.087;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.16;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,9:91:78:0|1:109508616_G_C:78,0,3296:109508616	15	0	3	1
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	424.07	37	chr1	109508618	.	T	C	424.07	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.132;DP=1219;ExcessHet=0.3672;FS=176.537;InbreedingCoeff=-0.0834;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.2;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,9:91:78:0|1:109508616_G_C:78,0,3296:109508616	16	0	3	0
chr1	109508621	109508621	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C292G:p.L98V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00640700037222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.262	0.22895	T	0.957	0.54824	D	0.593	0.50536	P	0.000131	0.49741	D	0.000000	0.999211	0.46353	D	2.295	0.65404	M	3.83	0.03702	T	-0.91	0.24460	N	0.349	0.52386	-0.9797	0.35071	T	0.010	0.03582	T	10	0.17797929	0.32860	T	0.006407	0.16870	T	0.170	0.43303	0.564	0.68499	0.504579179298	0.50095	0.6842273842363464	0.68361	2.0194489517	0.93986	0.594215393066	0.52088	T	0.041072	0.25738	T	-0.127364	0.31924	T	-0.420726	0.30991	T	0.81734436750412	0.47576	D	0.879712	0.59601	D	0.10350861	0.24465	0.09542348	0.22631	0.10350861	0.24465	0.09542348	0.22630	-6.704	0.51840	T	.	.	0.404	0.60008	A	.;.	.;.	3.916451	0.57146	23.8	0.9898085387003358	0.49740	0.64025	0.32274	D	AEFBCI	0.409761	0.48091	N	0.160561715523568	0.49314	3.13312	0.0874104726328897	0.43911	2.68339	0.944757594152216	0.27630	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.98	0.33575	0.427000	0.21098	7.419000	0.58701	0.676000	0.76740	0.099000	0.22773	1.000000	0.68203	1.000000	0.97212	0.19:0.0:0.6423:0.1677	5.344	0.15305	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	69.7	37	chr1	109508621	.	G	C	69.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.753;DP=1217;ExcessHet=0;FS=67.06;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=0.93;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,9:89:83:0|1:109508616_G_C:83,0,3268:109508616	18	0	1	0
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M,GNAT2:NM_001377295:exon5:c.G370A:p.V124M,GNAT2:NM_001379232:exon5:c.G370A:p.V124M	Achromatopsia 4	0	1512	9	1	0	11	0.00362438	.	.	.	194412	GNAT2-related_disorder|Retinal_dystrophy|not_specified|not_provided|Achromatopsia_4	.|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:CN169374|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	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	0.005035	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.003788	0.05263	4667.83	38	chr1	109608722	.	C	T	4667.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.22;DP=1007;ExcessHet=0.119;FS=0.369;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.473;SOR=0.655	GT:AD:DP:GQ:PL	0/1:94,83:177:99:2021,0,2203	17	0	2	0
chr1	109712326	109712326	-	G	exonic	GSTM5	.	frameshift insertion	GSTM5:NM_000851:exon1:c.15dupG:p.Y7Vfs*34	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	8.993e-05	0.0011	0.0008	0.0001423	22	154602	rs762227004	0.0001	0.0001	7.489e-05	0.0001	0.0038	8.714e-05	8.202e-05	0.0026	0.0022	2.988e-05	0.0001	0	0	0	0.0038	3.598e-05	0.0001	0.0008	8.556e-05	8.537e-05	9.011e-05	8.079e-05	0.0010	4.965e-05	3.968e-05	0.0004	0.0003	0	0	6.539e-05	0	0	0	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	2746.29	33	chr1	109712326	.	T	TG	2746.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.518;DP=854;ExcessHet=0;FS=1.704;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.122;SOR=0.858	GT:AD:DP:GQ:PL	0/1:104,104:208:99:2760,0,2772	18	0	1	0
chr1	109758052	109758052	G	T	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon8:c.C625A:p.L209M,EPS8L3:NM_024526:exon9:c.C724A:p.L242M,EPS8L3:NM_133181:exon9:c.C724A:p.L242M,EPS8L3:NM_139053:exon9:c.C727A:p.L243M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0732947253702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000181	0.48115	D	0.096993	0.999774	0.48980	D	2.52	0.73523	M	0.99	0.81318	T	-1.93	0.44852	N	0.648	0.65930	0.157	0.85178	D	0.571	0.84499	D	10	0.50233066	0.61620	D	0.073295	0.71752	D	0.449	0.75004	0.377	0.39156	0.654265926928	0.65138	0.45954651212334396	0.45872	0.464151656915	0.45893	0.500180602074	0.38853	T	0.138371	0.47182	T	0.131113	0.67469	D	-0.0494422	0.67060	D	0.983422756195068	0.75096	D	0.679332	0.28809	T	0.4613492	0.64755	0.4627329	0.68807	0.4613492	0.64755	0.4627329	0.68808	-6.831	0.53712	T	0.8458529850787996	0.91327	0.288	0.52010	B	.;.;.	.;.;.	4.003166	0.59000	24.0	0.9945025874216793	0.65223	0.90144	0.51092	D	AEFBI	0.327908	0.42873	N	0.295084464084936	0.55900	3.75404	0.189722915797704	0.49282	3.133355	0.957796685293268	0.28325	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	3.37	0.37692	2.505000	0.45084	5.615000	0.49067	-0.105000	0.15698	0.996000	0.39380	1.000000	0.68203	0.918000	0.45347	0.1659:0.0:0.8341:0.0	9.683	0.39243	564	0.70960	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	84.33	43	chr1	109758052	.	G	T	84.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.395;DP=742;ExcessHet=0;FS=22.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=-0.435;SOR=4.803	GT:AD:DP:GQ:PL	0/1:29,10:39:98:98,0,688	18	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,22:138:99:0|1:110222977_C_G:166,0,4534:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,23:142:99:0|1:110222977_C_G:164,0,4610:110222977	8	0	11	0
chr1	110222982	110222982	C	T	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697T:p.L233F,KCNC4:NM_001377330:exon2:c.C697T:p.L233F,KCNC4:NM_004978:exon2:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.257215744657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.036	0.52060	D	0.092	0.67487	B	0.248	0.65830	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-4.56	0.97772	D	-2.92	0.61129	D	0.71	0.71321	1.064	0.98441	D	0.913	0.97120	D	10	0.82669085	0.81846	D	0.257216	0.89360	D	0.748	0.91328	0.51	0.60693	0.998798673634	0.99879	0.8353798834876841	0.83497	2.2713391689	0.96273	0.879670739174	0.93916	D	0.684204	0.90757	D	0.250026	0.78605	D	0.121369	0.78326	D	0.976836979389191	0.71561	D	0.976702	0.93381	D	0.6352031	0.74575	0.47092855	0.69323	0.6352031	0.74577	0.47092855	0.69323	-10.787	0.78477	D	.	.	0.984	0.92685	P	.;.;.	.;.;.	4.840138	0.79009	27.0	0.99871710190157814	0.94902	0.98768	0.86602	D	AEFDGBI	0.882603	0.81085	D	0.464917858942242	0.65055	4.774502	0.528151035303576	0.69893	5.425667	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	940.8	41	chr1	110222982	.	C	T	940.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.687;DP=1389;ExcessHet=1.3;FS=68.969;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.39;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,23:142:99:0|1:110222977_C_G:164,0,4610:110222977	17	0	2	0
chr1	116133153	116133153	G	A	exonic	MAB21L3	.	nonsynonymous SNV	MAB21L3:NM_152367:exon7:c.G877A:p.E293K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0185504558805	7.7e-05	.	0.0001	0	0	0	0	0	0.0022	0.0007	9.06e-05	14	154602	rs150571972	7.798e-05	7.798e-05	6.398e-05	9.213e-05	0.0006	6.6e-05	6.142e-05	0.0004	0.0004	2.987e-05	0	3.827e-05	0	0	0	5.306e-05	6.623e-05	0.0006	3.943e-05	3.94e-05	5.139e-05	2.69e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.016	0.51853	D	0.053	0.47336	T	0.906	0.49993	P	0.418	0.45020	B	0.003059	0.35512	N	0.216570	1	0.81001	D	2.81	0.81869	M	2.85	0.10578	T	-2.51	0.54546	D	0.809	0.80473	-1.1037	0.03672	T	0.032	0.13592	T	10	0.5419329	0.63768	D	0.01855	0.40650	T	0.395	0.71004	.	.	0.62212452058	0.61905	0.7169952577790302	0.71642	0.255869905752	0.28170	0.617610454559	0.55391	T	0.274883	0.64740	T	-0.0457486	0.45091	T	0.0760039	0.75311	D	0.729973196983337	0.42209	D	0.920308	0.71149	D	0.3768272	0.59086	0.418065	0.65841	0.3768272	0.59086	0.418065	0.65842	-5.766	0.44277	T	.	.	0.616	0.69555	P	.	.	4.679065	0.74854	26.2	0.99861767119201916	0.94002	0.98221	0.80666	D	AEFBI	0.878383	0.80361	D	0.607009640837041	0.73616	5.995546	0.62406278533514	0.76692	6.537966	0.999997768667829	0.74766	0.446893	0.09132	0	0.54472	0.11627	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	7.456000	0.79796	11.803000	0.96709	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	19.246	0.93891	881	0.29269	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	.	.	.	.	.	.	.	.	0.02632	2239.33	59	chr1	116133153	.	G	A	2239.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=1008;ExcessHet=0;FS=3.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.298;SOR=0.468	GT:AD:DP:GQ:PL	0/1:93,82:175:99:2253,0,2252	18	0	1	0
chr1	119511553	119511553	G	A	exonic	HSD3B1	.	nonsynonymous SNV	HSD3B1:NM_000862:exon3:c.G196A:p.E66K,HSD3B1:NM_001328615:exon3:c.G196A:p.E66K	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0196524584189	.	0.00139776	0.0008	9.614e-05	8.688e-05	0	0	0	0	0.0059	0.000718	111	154602	rs587718863	0.0004	0.0004	0.0002	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	2.988e-05	0	0	0	0	0	3.598e-06	0.0003	0.0063	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0038	0.0032	4.814e-05	0	0	0	0	0	0	0	0	0.0054	0.492	0.07944	T	0.654	0.06643	T	0.164	0.28467	B	0.065	0.27321	B	0.636861	0.10635	N	0.828126	0.999999	0.08975	N	0.925	0.23481	L	-1.69	0.82985	D	-1.31	0.32791	N	0.171	0.18239	-0.9388	0.42806	T	0.151	0.47944	T	10	0.0050863326	0.00110	T	0.019652	0.42067	T	0.270	0.58507	.	.	0.63472681612	0.63173	0.21946291698657927	0.21862	0.0280664298658	0.02883	0.283091783524	0.07927	T	0.297519	0.67011	T	-0.347897	0.04861	T	-0.269894	0.47829	T	0.00826839293798952	0.00099	T	0.650035	0.32403	T	0.07125189	0.15760	0.050600074	0.07975	0.07125189	0.15759	0.050600074	0.07974	-3.199	0.12468	T	.	.	0.071	0.03925	B	.;.;.	.;.;.	0.728088	0.10974	7.636	0.56482400037645808	0.05562	0.06393	0.12395	N	AEFGI	0.074905	0.15026	N	-0.901310232663457	0.10811	0.5185199	-0.915459886229663	0.11730	0.5993437	0.00273896774019493	0.09669	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.27	1.2	0.20181	0.009000	0.13117	-0.056000	0.12484	0.373000	0.20310	0.001000	0.13787	0.000000	0.08366	0.879000	0.42020	0.2438:0.1946:0.5616:0.0	4.091	0.09443	633	0.64743	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000574	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004032	0.02632	1908.33	34	chr1	119511553	.	G	A	1908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.656;DP=824;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.839;SOR=0.616	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1922,0,2154	18	0	1	0
chr1	119926524	119926524	T	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_024408:exon24:c.A3980G:p.D1327G	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	5	1401	110	6	0	122	0.0417237	.	.	.	138711	Hajdu-Cheney_syndrome|not_specified|not_provided	MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.401	.	0.0050	0.0109824	0.0169	0.0015	0.0056	0.0004	0.0039	0.0109	0.0240	0.0642	0.0107825	1667	154602	rs61752484	0.0090	0.0091	0.0077	0.0104	0.0522	0.0089	0.0088	0.0509	0.0504	0.0012	0.0043	0.0051	0.0001	0.0027	0.0266	0.0068	0.0090	0.0522	0.0061	0.0061	0.0059	0.0062	0.0440	0.0057	0.0056	0.0392	0.0373	0.0016	0.0066	0.0040	0.0081	0	0.0027	0.0136	0.0074	0.0071	0.0440	0.411	0.10115	T	0.407	0.14679	T	0.101	0.25775	B	0.061	0.26820	B	0.028087	0.25656	U	0.187689	0.63999	0.32867	D	0.36	0.11994	N	-2.83	0.91249	D	-0.83	0.22727	N	0.233	0.26233	-0.7823	0.56172	T	0.259	0.62955	T	10	0.005875975	0.00132	T	.	.	.	0.401	0.71479	.	.	.	.	0.5572658966142893	0.55653	0.902817761121	0.70701	0.378910720348	0.22102	T	0.340968	0.70992	T	-0.255136	0.13476	T	-0.102017	0.63241	T	0.0107099988816602	0.00151	T	0.783822	0.42110	T	0.15419918	0.34914	0.12176654	0.29377	0.15419918	0.34914	0.12176654	0.29376	-4.607	0.32260	T	0.08702335474015384	0.05070	0.108	0.20391	B	.	.	3.766816	0.54085	23.4	0.96812852524452542	0.31195	0.90332	0.51424	D	AEFBI	0.296564	0.40637	N	-0.406180722580298	0.25253	1.369426	-0.157145179363137	0.33134	1.892235	0.999933978369673	0.46732	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.183000	0.42195	4.071000	0.41665	0.665000	0.62972	0.647000	0.28146	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	15.329	0.73896	825	0.40060	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019348	0.005155	0.009511	0.011834	0.000000	0.034483	0.050314	0.026718	0.05263	1840.83	33	chr1	119926524	.	T	C	1840.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.794;DP=794;ExcessHet=0.119;FS=1.865;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.194;SOR=0.734	GT:AD:DP:GQ:PL	0/1:43,42:85:99:914,0,1022	17	0	2	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,19:140:52:.:.:52,0,3866:.	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,19:140:52:.:.:52,0,3866:.	9	0	10	0
chr1	145994970	145994970	-	C	exonic	TXNIP	.	frameshift insertion	TXNIP:NM_001313972:exon3:c.367dupG:p.V123Gfs*8,TXNIP:NM_006472:exon4:c.532dupG:p.V178Gfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2412.29	36	chr1	145994970	.	A	AC	2412.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=846;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-1.096;SOR=0.79	GT:AD:DP:GQ:PL	0/1:129,92:221:99:2426,0,3778	18	0	1	0
chr1	146992728	146992728	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon35:c.C3865G:p.L1289V	.	479	1034	9	0	0	9	0.00433317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000159896709696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409621751	0.0005	0.0006	0.0005	0.0005	0.0036	0.0004	0.0004	0.0018	0.0013	0.0003	0.0003	0.0006	6.099e-05	2.497e-05	0.0036	0.0005	0.0005	0.0008	0.0003	0.0004	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	4.91e-05	0	0.0003	0.0003	0	0	0.0034	0.0005	0	0.0006	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	-0.9698	0.37242	T	0.007	0.02244	T	6	0.044184864	0.03347	T	2.05E-4	0.00004	T	.	.	.	.	0.0401082797425	0.02173	0.001112823523945474	0.00102	.	.	.	.	.	.	.	.	-0.221868	0.17740	T	-0.556475	0.16710	T	0.0235022489918267	0.01083	T	0.660434	0.28057	T	0.026182279	0.01644	0.06269495	0.12305	0.026182279	0.01644	0.06269495	0.12305	-9.76	0.72462	D	.	.	0.206	0.43158	B	.;.;.	.;.;.	-0.322806	0.02520	0.299	0.19348311514925037	0.00649	0.00107	0.00683	N	AEFI	0.034249	0.04210	N	-1.81070371161343	0.00519	0.0223586	-2.03500448643959	0.00258	0.01137968	1.35450918937016E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.754	-1.51	0.08207	0.188000	0.16826	-1.699000	0.04891	-0.882000	0.02455	0.016000	0.19238	0.000000	0.08366	0.003000	0.05239	0.2578:0.4861:0.256:0.0	3.597	0.07558	793	0.45818	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	.	.	.	.	.	.	.	.	0.05263	650.83	30	chr1	146992728	.	C	G	650.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.451;DP=993;ExcessHet=0.119;FS=13.484;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=38.76;MQRankSum=2.55;QD=4.37;ReadPosRankSum=-0.878;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,19:83:99:0|1:146992728_C_G:360,0,1925:146992728	17	0	2	0
chr1	147255898	147255898	C	T	exonic	CHD1L	.	nonsynonymous SNV	CHD1L:NM_001256336:exon3:c.C133T:p.R45C,CHD1L:NM_001348453:exon3:c.C94T:p.R32C,CHD1L:NM_001348452:exon4:c.C217T:p.R73C,CHD1L:NM_004284:exon4:c.C433T:p.R145C,CHD1L:NM_024568:exon4:c.C94T:p.R32C,CHD1L:NM_001348451:exon5:c.C217T:p.R73C	.	424	1095	3	0	0	3	0.00136799	.	.	.	2330686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.116388344784	0.0002	0.000199681	0.0005	9.85e-05	0	0	0	0.0007	0	0.0010	0.000414	64	154602	rs201680696	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0008	0.0007	2.988e-05	4.475e-05	0.0007	0	0	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0003	0	0	0	0.0005	0.0014	0.0006	0.085	0.32769	T	0.075	0.43721	T	0.001	0.07471	B	0.004	0.10090	B	0.601799	0.05650	N	1.190080	1	0.08975	N	1.365	0.34158	L	-3.16	0.92996	D	-1.24	0.31375	N	0.167	0.17691	-0.5182	0.67981	T	0.438	0.77695	T	10	0.06019959	0.07357	T	0.116388	0.79586	D	0.184	0.45763	.	.	0.308278614506	0.30437	0.3291215404785925	0.32825	0.0473593968193	0.05163	0.202707260847	0.00539	T	0.032568	0.72268	T	-0.351374	0.04641	T	-0.359284	0.38136	T	0.0173434305545209	0.00473	T	0.258174	0.04088	T	0.05462675	0.10506	0.03855147	0.03748	0.05462675	0.10506	0.03855147	0.03747	-0.765	0.00773	T	.	.	0.069	0.22789	B	.;.;.	.;.;.	0.481829	0.08514	5.275	0.94182931576180495	0.24404	0.05958	0.11916	N	AEFBI	0.048337	0.08236	N	-1.11143778960256	0.06438	0.2963945	-1.1572761102137	0.06638	0.3201982	0.0948772288606011	0.16215	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.66	-1.64	0.07874	-0.103000	0.10909	-5.032000	0.01878	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.3524:0.1458:0.5018	5.748	0.17400	781	0.47532	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	320.33	35	chr1	147255898	.	C	T	320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.744;DP=600;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=-0.16;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,16:41:99:334,0,620	18	0	1	0
chr1	148590948	148590948	T	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon5:c.A587T:p.E196V	.	797	712	11	2	0	15	0.0104239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179002479	0.0023	0.0068	0.0024	0.0022	0.0059	0.0022	0.0021	0.0033	0.0026	0.0012	0.0007	0.0031	0	0.0043	0.0059	0.0028	0.0023	0.0002	0.0022	0.0079	0.0025	0.0019	0.0026	0.0020	0.0019	0.0023	0.0021	0.0023	0	0.0019	0.0016	0	0.0023	0	0.0026	0.0007	0.0006	.	.	.	0.013	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.36	0.16089	T	.	.	.	0.075	0.08366	.	.	.	.	.	.	.	0.07571003	0.11735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641836	0.25394	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.;.;.;.;.	.;.;.;.;.	0.639089	0.10078	6.824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.111000	0.03414	-5.349000	0.01752	0.216000	0.18031	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	81.06	.	chr1	148590948	.	T	A	81.06	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.684;DP=399;ExcessHet=0.3892;FS=38.371;InbreedingCoeff=-0.1232;MLEAC=3;MLEAF=0.088;MQ=27.97;MQRankSum=-1.119;QD=1.33;ReadPosRankSum=-0.09;SOR=4.798	GT:AD:DP:GQ:PL	0/1:8,2:10:27:27,0,193	14	0	3	2
chr1	149517471	149517471	A	T	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon46:c.A5621T:p.Q1874L	.	816	705	1	0	0	1	0.000708717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185344434	0.0011	0.0010	0.0013	0.0009	0.0091	0.0010	0.0010	0.0076	0.0071	0	0	0.0011	0.0091	0.0054	0	0.0002	0.0019	0.0009	0.0004	0.0010	0.0003	0.0005	0.0020	0.0002	0.0001	3.174e-05	1.31e-05	0	0	0	0.0015	0.0020	0.0034	0	0.0002	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.098	0.07949	-0.9281	0.44415	T	0.006	0.02168	T	4	0.024324328	0.00665	T	9.58E-4	0.00980	T	.	.	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	0.010577	0.09538	T	-0.20922	0.19490	T	-0.538307	0.18463	T	0.0881984476856418	0.11002	T	0.853215	0.53849	D	0.09412004	0.22122	0.25445613	0.51111	0.09412004	0.22122	0.25445613	0.51110	-10.94	0.79328	D	.	.	.	.	.	.	.	1.737957	0.22118	15.49	0.64021622242399012	0.07380	0.00373	0.01896	N	AEFI	.	.	.	-0.976898481875597	0.09099	0.4292426	-1.22424766267977	0.05523	0.2633597	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.811000	0.26855	-15.477000	0.00355	.	.	0.036000	0.20778	0.000000	0.08366	.	.	.	.	.	804	0.43891	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	.	.	.	.	.	.	.	.	0.0625	777.36	.	chr1	149517471	.	A	T	777.36	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.24;DP=381;ExcessHet=0.1424;FS=4.755;InbreedingCoeff=-0.0671;MLEAC=2;MLEAF=0.063;MQ=37.55;MQRankSum=-1.807;QD=11.11;ReadPosRankSum=2.16;SOR=1.287	GT:AD:DP:GQ:PL	0/1:10,21:31:99:534,0,201	14	0	2	3
chr1	151519198	151519198	C	T	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon2:c.C679T:p.R227W	.	426	1091	5	0	0	5	0.00228624	.	.	.	745684	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.267	0.0439846519805	0.0012	0.000399361	0.0017	0.0004	0.0003	0	0.0060	0.0020	0.0022	0.0012	0.001423	220	154602	rs140625740	0.0015	0.0015	0.0016	0.0015	0.0016	0.0015	0.0015	0.0015	0.0015	0.0002	0.0001	0	0.0001	0.0048	0.0005	0.0016	0.0011	0.0012	0.0011	0.0011	0.0010	0.0013	0.0014	0.0010	0.0009	0.0012	0.0011	0.0004	0	0.0002	0	0	0.0043	0	0.0014	0.0005	0.0012	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	0.612859	0.10850	N	0.836950	0.999998	0.08975	N	.	.	.	0.18	0.70833	T	-2.24	0.51157	N	0.42	0.45992	-0.9628	0.38645	T	0.156	0.48721	T	9	0.0064674616	0.00146	T	0.043985	0.61262	D	0.267	0.58126	.	.	0.41921206133	0.41539	0.2763284620869512	0.27545	0.59421333327	0.54743	0.342618584633	0.16830	T	0.076366	0.35401	T	-0.285856	0.10055	T	-0.196619	0.54967	T	0.0155587186721088	0.00354	T	0.881212	0.60074	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.35267	B	.;.	.;.	4.031835	0.59621	24.1	0.99884106669278849	0.95970	0.39350	0.26193	N	AEFBI	0.251315	0.37120	N	-0.154882964167747	0.35027	2.006796	-0.249320509203521	0.29795	1.672212	0.128870168291356	0.17049	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.18	4.27	0.50009	0.324000	0.19357	1.389000	0.26100	0.596000	0.33519	0.006000	0.17386	0.777000	0.26748	0.837000	0.39485	0.0:0.7712:0.1492:0.0795	9.303	0.37020	415	0.81806	.;.	.	.	.	.	.	Likely benign	0	0	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	2718.33	34	chr1	151519198	.	C	T	2718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=886;ExcessHet=0;FS=2.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.17;SOR=0.664	GT:AD:DP:GQ:PL	0/1:126,109:235:99:2732,0,2989	18	0	1	0
chr1	152213699	152213699	G	A	exonic	HRNR	.	stopgain	HRNR:NM_001009931:exon3:c.C7930T:p.R2644X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs770918728	0.0001	0.0003	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0.0003	0.0003	3.955e-05	0.0003	2.048e-05	0.0002	0.0001	0.0002	8.19e-05	6.863e-05	0.0002	5.196e-05	8.731e-05	0.0004	2.605e-05	1.755e-05	.	.	4.687e-05	0	0	0	0.0002	0	0	3.204e-05	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.062	0.03392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309596	0.83715	D	0.206937	0.83504	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.658900	0.95551	35	0.96517052613061138	0.30101	0.04655	0.10328	N	AEFI	0.026630	0.02034	N	-0.094426089192537	0.37637	2.192537	-0.508011085912625	0.21935	1.189002	1.1932983771932E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.17	-0.316	0.12110	0.643000	0.24440	.	.	0.584000	0.30380	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.3431:0.3082:0.3487	5.990	0.18684	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1660.33	43	chr1	152213699	.	G	A	1660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=2103;ExcessHet=0;FS=53.123;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.61;MQRankSum=3.07;QD=31.93;ReadPosRankSum=-0.743;SOR=3.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,42:52:99:0|1:152213699_G_A:1674,0,294:152213699	18	0	1	0
chr1	152213889	152213891	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.7738_7740del:p.H2580del	.	590	927	5	0	0	5	0.00268962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230403957	1.296e-05	0.0004	1.166e-05	1.414e-05	0.0001	5.39e-06	3.46e-06	5.23e-05	3.541e-05	0	0	0	0	0	0	2.882e-06	0	0.0001	4.628e-05	0.0003	1.762e-05	7.797e-05	0.0013	1.753e-05	1.182e-05	0.0004	0.0003	4.282e-05	0	0	0	0	0	0	0	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	386.79	43	chr1	152213888	.	CGTG	C	386.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.178;DP=1051;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=25.06;MQRankSum=0.771;QD=3;ReadPosRankSum=1.1;SOR=0.672	GT:AD:DP:GQ:PL	0/1:43,9:52:99:235,0,1747	17	0	2	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|1:214,22:236:99:0|1:152214821_T_A:266,0,8867:152214821	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|1:214,22:236:99:0|1:152214821_T_A:266,0,8867:152214821	9	0	10	0
chr1	152215299	152215301	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.6328_6330del:p.H2110del	.	437	1069	16	0	0	16	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0	0	0	0	0	0.0682	4.53e-05	7	154602	rs758102976	6.168e-06	0.0002	4.091e-06	8.266e-06	6.042e-05	2.9e-06	2.1e-06	1.001e-05	3.74e-06	6.042e-05	2.244e-05	0	0	0	0	5.401e-06	0	0	1.784e-05	7.561e-05	1.712e-05	1.862e-05	3.893e-05	2.96e-06	1.11e-06	.	.	3.893e-05	0	0	0	0	0	0	1.744e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005898	0.000000	0.001538	0.004902	0.000000	0.019231	0.008333	0.014019	0.05263	135.77	97	chr1	152215298	.	CGTG	C	135.77	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.207;DP=2625;ExcessHet=0.119;FS=8.723;InbreedingCoeff=-0.0427;MLEAC=1;MLEAF=0.026;MQ=30.46;MQRankSum=0.236;QD=0.28;ReadPosRankSum=0.614;SOR=4.016	GT:AD:DP:GQ:PL	0/1:217,19:236:99:149,0,8890	17	0	2	0
chr1	152216709	152216711	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.4918_4920del:p.H1640del	.	491	1022	9	0	0	9	0.00438383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403795514	6.077e-05	0.0006	4.854e-05	7.283e-05	0.0007	4.767e-05	4.358e-05	0.0005	0.0004	0	0	0	2.914e-05	0	0.0003	1.703e-05	7.089e-05	0.0007	4.618e-05	0.0002	0	9.894e-05	0.0009	1.478e-05	9.26e-06	0.0002	6.698e-05	6.124e-05	0	0	0	0	0	0	2.077e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	413.79	22	chr1	152216708	.	CGTG	C	413.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.63;DP=940;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=24.54;MQRankSum=1.29;QD=4.36;ReadPosRankSum=-1.055;SOR=0.044	GT:AD:DP:GQ:PL	0/1:41,6:47:99:129,0,1682	17	0	2	0
chr1	152305321	152305321	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G9565T:p.A3189S	Ichthyosis vulgaris, Autosomal dominant	3	1507	2	0	10	12	0.00066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00134446241271	.	.	0.0002	0	8.646e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs142839051	0.0001	0.0001	7.489e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	2.236e-05	0	2.521e-05	0	0.0005	8.995e-06	0.0001	0.0021	0.0001	0.0001	1.307e-05	0.0002	0.0034	6.645e-05	5.431e-05	0.0021	0.0017	0	0	0	0	0	0	0	1.478e-05	0	0.0034	0.451	0.08969	T	.	.	.	0.338	0.33405	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	2.285	0.65182	M	4.69	0.01694	T	0.01	0.06868	N	0.19	0.20793	-0.8915	0.48802	T	0.002	0.00615	T	9	0.019930273	0.00452	T	0.001344	0.01910	T	0.056	0.15993	0.596	0.72617	0.156986980423	0.15292	0.017839397403768907	0.01738	.	.	0.251701623201	0.03949	T	0.009373	0.08534	T	-0.638751	0.00085	T	-0.697561	0.05960	T	0.03378478208761	0.02601	T	0.524548	0.17205	T	0.100362465	0.23698	0.13793008	0.32954	0.100362465	0.23698	0.13793008	0.32953	-7.606	0.58353	D	.	.	0.112	0.21840	B	.	.	0.067552	0.04768	1.387	0.93584458884289123	0.23433	0.00541	0.02492	N	AEFBI	0.035815	0.04672	N	-1.03008496426776	0.07984	0.3727922	-1.2272429485925	0.05476	0.261025	1.70874731548091E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.84	-1.58	0.08029	-0.309000	0.08185	.	.	0.424000	0.20830	0.000000	0.06391	.	.	0.001000	0.02609	0.2785:0.3684:0.0:0.3531	1.819	0.02918	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	5658.33	326	chr1	152305321	.	C	A	5658.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.524;DP=3957;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.07;MQRankSum=1.02;QD=13.22;ReadPosRankSum=-1.293;SOR=0.694	GT:AD:DP:GQ:PL	0/1:211,217:428:99:5672,0,5800	18	0	1	0
chr1	152310480	152310480	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G4406A:p.R1469H	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0063556999883	0.0002	0.000998403	0.0004	9.61e-05	0	0.0045	0	8.992e-05	0.0011	0.0002	0.0003458	9	26028	rs145675213	0.0003	0.0003	0.0002	0.0003	0.0040	0.0002	0.0002	0.0035	0.0033	2.987e-05	2.236e-05	0	0.0040	0	0	0.0002	0.0001	0.0003	0.0002	0.0002	0.0002	0.0003	0.0045	0.0002	0.0001	0.0031	0.0026	4.83e-05	0	0	0	0.0045	0	0	8.828e-05	0.0005	0.0006	0.333	0.13003	T	.	.	.	0.291	0.32334	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.355	0.11969	N	4.68	0.01715	T	-0.18	0.09796	N	0.093	0.07262	-0.9091	0.46965	T	0.001	0.00222	T	9	0.004622817	0.00096	T	0.006356	0.16696	T	0.018	0.03083	.	.	0.0611884634855	0.05136	0.015683170140607494	0.01524	.	.	0.227581247687	0.01793	T	0.017036	0.13967	T	-0.694446	0.00039	T	-0.77017	0.02763	T	0.0300190734111642	0.01993	T	0.513449	0.16474	T	0.017604563	0.00287	0.02421554	0.00438	0.017604563	0.00286	0.02421554	0.00437	-2.3	0.04555	T	.	.	0.085	0.09965	B	.	.	0.055131	0.04675	1.323	0.84613867092124329	0.15395	0.00421	0.02078	N	AEFBI	0.047252	0.07937	N	-1.66589897246711	0.00970	0.04202707	-1.77166113161527	0.00854	0.03817084	0.00610564637469441	0.11130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.61	-6.72	0.01591	-3.809000	0.00406	.	.	-1.005000	0.01788	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.125:0.1932:0.4011:0.2807	2.123	0.03505	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001601	0.005208	0.001359	0.000000	0.000000	0.000000	0.003106	0.000000	0.02632	4664.33	466	chr1	152310480	.	C	T	4664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.812;DP=5458;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-0.06;QD=12.27;ReadPosRankSum=-0.153;SOR=0.688	GT:AD:DP:GQ:PL	0/1:199,181:380:99:4678,0,5157	18	0	1	0
chr1	152310624	152310624	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A4262T:p.Q1421L	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000624236312454	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779724442	4.788e-06	4.788e-06	4.084e-06	5.5e-06	8.115e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.115e-05	6.577e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.025	0.47320	D	.	.	.	0.072	0.23997	B	0.021	0.19346	B	.	.	.	.	1	0.08975	N	2.64	0.77224	M	4.78	0.01551	T	-1.71	0.40660	N	0.11	0.09631	-0.9507	0.40851	T	0.003	0.00800	T	9	0.07606238	0.11836	T	6.24E-4	0.00303	T	0.011	0.01250	0.281	0.23642	0.134241683229	0.13084	0.00960115145678403	0.00922	.	.	0.258911639452	0.04762	T	0.048112	0.27921	T	-0.445027	0.01208	T	-0.695499	0.06075	T	0.0366632325554088	0.03096	T	0.332567	0.07018	T	0.05721707	0.11359	0.04803701	0.07048	0.05721707	0.11359	0.04803701	0.07048	-9.135	0.68562	D	.	.	0.168	0.36966	B	.	.	0.139471	0.05334	1.823	0.6788149607626609	0.08488	0.00505	0.02373	N	AEFDBI	0.038379	0.05423	N	-1.15078674995923	0.05767	0.2637586	-1.29133367566164	0.04546	0.2147161	1.53353634355874E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.17	-1.42	0.08446	-2.159000	0.01366	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4363:0.1963:0.3674	3.604	0.07582	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	6181.33	466	chr1	152310624	.	T	A	6181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.773;DP=5624;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0.925;QD=12.03;ReadPosRankSum=0.388;SOR=0.813	GT:AD:DP:GQ:PL	0/1:278,236:514:99:6195,0,7593	18	0	1	0
chr1	155190105	155190105	C	T	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001371720:exon6:c.G1516A:p.G506S	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs762050210	0	3.423e-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	.	.	.	.	.	.	.	.	0.02632	81.33	34	chr1	155190105	.	C	T	81.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.551;DP=944;ExcessHet=0;FS=2.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.77;MQRankSum=1.73;QD=1.07;ReadPosRankSum=-1.615;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,13:76:95:0|1:155190105_C_T:95,0,1600:155190105	18	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L,PAQR6:NM_001272112:exon4:c.C44T:p.S15L,PAQR6:NM_001272113:exon4:c.C44T:p.S15L,PAQR6:NM_001272110:exon6:c.C44T:p.S15L,PAQR6:NM_001272111:exon6:c.C44T:p.S15L	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.008174	0.026316	0.000000	0.017241	0.030488	0.026515	0.02632	868.33	38	chr1	156244810	.	G	A	868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.649;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.383;SOR=0.619	GT:AD:DP:GQ:PL	0/1:50,38:88:99:882,0,1252	18	0	1	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S,PAQR6:NM_001272112:exon4:c.G4T:p.A2S,PAQR6:NM_001272113:exon4:c.G4T:p.A2S,PAQR6:NM_001272108:exon5:c.G338T:p.G113V,PAQR6:NM_001272107:exon6:c.G353T:p.G118V,PAQR6:NM_001272110:exon6:c.G4T:p.A2S,PAQR6:NM_001272111:exon6:c.G4T:p.A2S,PAQR6:NM_024897:exon6:c.G353T:p.G118V,PAQR6:NM_001272104:exon7:c.G671T:p.G224V,PAQR6:NM_198406:exon7:c.G671T:p.G224V,PAQR6:NM_001272105:exon8:c.G662T:p.G221V	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.009511	0.023392	0.000000	0.017241	0.024390	0.026515	0.02632	618.33	38	chr1	156244850	.	C	A	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.923;DP=705;ExcessHet=0;FS=2.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-0.281;SOR=1.069	GT:AD:DP:GQ:PL	0/1:46,26:72:99:632,0,1158	18	0	1	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W,SMG5:NM_001323614:exon12:c.C1627T:p.R543W,SMG5:NM_015327:exon12:c.C1627T:p.R543W,SMG5:NM_001323616:exon13:c.C1429T:p.R477W,SMG5:NM_001323617:exon13:c.C1429T:p.R477W	.	424	1041	53	4	0	61	0.0284648	.	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Likely benign	0	0	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	0.015609	0.000000	0.006793	0.026316	0.000000	0.017241	0.030488	0.030303	0.02632	2275.33	37	chr1	156266009	.	G	A	2275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=812;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.642;SOR=0.635	GT:AD:DP:GQ:PL	0/1:75,84:159:99:2289,0,1751	18	0	1	0
chr1	157552343	157552343	A	G	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon1:c.T20C:p.L7S,FCRL5:NM_031281:exon1:c.T20C:p.L7S	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0630339727169	0.0002	0.000798722	0.0007	0	0.0003	0	0	0.0005	0.0011	0.0032	0.0006274	97	154602	rs139376463	0.0004	0.0004	0.0003	0.0006	0.0037	0.0004	0.0004	0.0034	0.0032	0	0.0002	0.0017	0	0	0.0019	0.0002	0.0005	0.0037	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	0	0	0.0012	0.0020	0	0	0	0.0002	0.0005	0.0033	0.002	0.78490	D	0.002	0.79402	D	0.962	0.90584	D	0.69	0.76457	P	.	.	.	.	0.957321	0.26265	N	2.72	0.79541	M	0.16	0.60610	T	-2.96	0.63782	D	0.505	0.69913	-0.6965	0.60605	T	0.277	0.64865	T	9	0.015307337	0.00321	T	0.063034	0.68840	D	0.278	0.59497	.	.	0.763237125061	0.76108	0.4618330409145972	0.46101	0.414904228319	0.42158	0.344319820404	0.17082	T	0.008712	0.07977	T	-0.310763	0.07682	T	-0.221272	0.52614	T	0.129229771612976	0.15310	T	0.440756	0.12177	T	0.26441956	0.49509	0.34279042	0.59999	0.26441956	0.49509	0.34279042	0.59999	-8.611	0.65162	D	.	.	0.200	0.43895	B	.;.;.	.;.;.	3.387802	0.46888	22.4	0.99626294104386082	0.75716	0.81320	0.40748	D	AEFDGBHCI	0.188957	0.31622	N	0.283578621718234	0.55316	3.69571	0.169705593535087	0.48195	3.038807	0.999999999724134	0.74766	0.500041	0.20204	0	0.52208	0.09955	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	5.01	5.01	0.66477	3.998000	0.56736	5.055000	0.47034	0.756000	0.94297	0.959000	0.33545	0.537000	0.25394	0.085000	0.17524	1.0:0.0:0.0:0.0	11.039	0.47037	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1547.33	38	chr1	157552343	.	A	G	1547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.769;DP=816;ExcessHet=0;FS=2.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.012;SOR=0.517	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1561,0,1500	18	0	1	0
chr1	158354016	158354016	G	C	exonic	CD1E	.	nonsynonymous SNV	CD1E:NM_001042583:exon1:c.G28C:p.G10R,CD1E:NM_001042584:exon1:c.G28C:p.G10R,CD1E:NM_001042585:exon1:c.G28C:p.G10R,CD1E:NM_001042586:exon1:c.G28C:p.G10R,CD1E:NM_001042587:exon1:c.G28C:p.G10R,CD1E:NM_001185107:exon1:c.G28C:p.G10R,CD1E:NM_001185108:exon1:c.G28C:p.G10R,CD1E:NM_001185110:exon1:c.G28C:p.G10R,CD1E:NM_001185112:exon1:c.G28C:p.G10R,CD1E:NM_001185113:exon1:c.G28C:p.G10R,CD1E:NM_001185114:exon1:c.G28C:p.G10R,CD1E:NM_001185115:exon1:c.G28C:p.G10R,CD1E:NM_030893:exon1:c.G28C:p.G10R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0121531330332	.	0.000199681	9.944e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs544192630	4.515e-05	4.515e-05	2.45e-05	6.601e-05	0.0007	3.641e-05	3.322e-05	0.0006	0.0005	0	0	0	0	0	0	0	4.967e-05	0.0007	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.009	0.91255	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.995989	0.07998	N	0.997349	1	0.08975	N	2.32	0.66415	M	4.6	0.61326	T	-0.96	0.84105	N	0.486	0.55799	-0.9408	0.42489	T	0.235	0.60234	T	10	0.18474105	0.33863	T	0.012153	0.30463	T	0.118	0.32913	0.762	0.89053	0.564910210825	0.56154	0.3082822884694054	0.30741	0.375523553379	0.39009	0.38698682189	0.23243	T	0.076454	0.35424	T	-0.278894	0.10785	T	-0.267303	0.48092	T	0.0662723482958223	0.08118	T	0.634936	0.45757	T	0.11508075	0.27161	0.12828022	0.30866	0.11508075	0.27161	0.12828022	0.30865	-4.893	0.40591	T	.	.	0.300	0.58452	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.873947	0.23803	16.16	0.99067724360746712	0.51645	0.12458	0.17281	N	AEFDBCI	0.098139	0.19781	N	-0.641180526891829	0.17718	0.9140652	-0.818772930865824	0.14041	0.7316028	0.998924468919681	0.37985	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.42	1.49	0.21966	0.762000	0.26168	3.438000	0.38361	0.671000	0.69459	0.005000	0.17040	0.956000	0.29165	0.001000	0.02609	0.1229:0.0:0.6509:0.2261	4.201	0.09924	867	0.32089	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	880.33	33	chr1	158354016	.	G	C	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.367;DP=704;ExcessHet=0;FS=2.16;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.778;SOR=1.061	GT:AD:DP:GQ:PL	0/1:26,36:62:99:894,0,627	18	0	1	0
chr1	159535181	159535181	G	A	exonic	OR10J5	.	nonsynonymous SNV	OR10J5:NM_001004469:exon1:c.C827T:p.T276M	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.00605758012431	0.0002	.	0.0008	0.0005	0.0006	0	0.0003	0.0012	0.0011	0.0002	0.0008279	128	154602	rs149096656	0.0009	0.0009	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0010	0.0003	0.0003	0	0	0.0006	0	0.0011	0.0007	0.0002	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0005	0.0008	0.0007	0.0004	0.0011	0.0002	0	0	9.423e-05	0	0.0010	0.0005	0	0.024	0.47745	D	0.08	0.41913	T	0.998	0.73220	D	0.944	0.68059	D	.	.	.	.	0.900281	0.27714	N	-0.06	0.04898	N	8.79	0.00053	T	-3.2	0.64710	D	0.262	0.29659	-0.9408	0.42489	T	0.000	0.00075	T	9	0.06468114	0.08613	T	0.006058	0.15846	T	0.109	0.30843	.	.	0.366479799498	0.36264	0.08469851335899134	0.08403	0.232130552555	0.25761	0.219826221466	0.01300	T	0.125695	0.45157	T	-0.535115	0.00358	T	-0.581966	0.14371	T	0.0499110519886017	0.05485	T	0.375462	0.08961	T	0.07824304	0.17806	0.13777916	0.32923	0.07824304	0.17806	0.13777916	0.32922	-4.415	0.29759	T	.	.	0.124	0.25978	B	.	.	3.096712	0.41717	21.4	0.99789611859103367	0.87572	0.05605	0.11510	N	AEFBI	0.072538	0.14480	N	0.00350986972371223	0.42014	2.523607	-0.0770811858707813	0.36340	2.113583	1.57669135713275E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.94	3.94	0.44807	1.987000	0.40309	1.729000	0.28315	-0.168000	0.11412	0.008000	0.17931	0.117000	0.22861	0.001000	0.02609	0.116:0.0:0.884:0.0	7.634	0.27423	866	0.32446	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2321.33	33	chr1	159535181	.	G	A	2321.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=837;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.027;SOR=0.656	GT:AD:DP:GQ:PL	0/1:99,93:192:99:2335,0,2286	18	0	1	0
chr1	159934568	159934568	C	A	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon8:c.G818T:p.R273L,IGSF9:NM_020789:exon8:c.G818T:p.R273L	.	423	1095	3	0	1	4	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0207728622629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs137951399	6.843e-07	1.368e-06	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.14207	T	0.1	0.61642	T	0.237	0.30795	B	0.206	0.37138	B	0.000705	0.42254	D	0.000000	0.574276	0.32320	D	0.32	0.10341	N	2.81	0.10975	T	-2.08	0.47514	N	0.391	0.44570	-0.9820	0.34538	T	0.014	0.05369	T	9	0.23336604	0.40353	T	0.020773	0.43429	T	0.117	0.32689	0.579	0.70476	0.202312658747	0.19855	0.5033262005801297	0.50254	0.399866162453	0.40999	0.380225300789	0.22289	T	0.082684	0.36884	T	-0.177509	0.24106	T	-0.492756	0.23103	T	0.44573113322258	0.30640	T	0.827517	0.57032	T	0.050089817	0.08995	0.07139663	0.15284	0.050089817	0.08994	0.07139663	0.15284	-9.097	0.71219	D	.	.	0.158	0.34906	B	.;.;.	.;.;.	2.378870	0.30534	18.47	0.979522565994836	0.37114	0.65564	0.32780	D	AEFDGBCI	0.281882	0.39535	N	-0.0909316962511451	0.37790	2.203672	-0.040122318903337	0.37920	2.226923	0.999922335916344	0.46280	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.63947	0.58350	0	.	.	4.52	3.6	0.40374	-0.235000	0.09031	1.403000	0.26213	-0.242000	0.07441	0.210000	0.24424	1.000000	0.68203	0.464000	0.28207	0.0:0.9048:0.0:0.0952	10.643	0.44796	873	0.30802	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3313.85	36	chr1	159934568	.	C	A	3313.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.343;DP=848;ExcessHet=0.119;FS=1.724;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.599;SOR=0.825	GT:AD:DP:GQ:PL	0/1:68,56:124:99:1468,0,1933	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:131,78:215:99:729,0,2672	7	0	12	0
chr1	161098638	161098638	G	A	exonic	KLHDC9	.	nonsynonymous SNV	KLHDC9:NM_001007255:exon1:c.G103A:p.E35K,KLHDC9:NM_152366:exon1:c.G103A:p.E35K	.	416	1087	17	2	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	.	0.0008	0.00399361	0.0046	0.0009	0.0040	0.0005	0	0.0018	0.0081	0.0201	0.002749	425	154602	rs138686208	0.0017	0.0017	0.0013	0.0022	0.0149	0.0017	0.0016	0.0142	0.0140	0.0003	0.0021	0.0043	0.0013	0	0.0123	0.0007	0.0025	0.0149	0.0013	0.0013	0.0010	0.0016	0.0145	0.0011	0.0011	0.0118	0.0108	0.0003	0	0.0020	0.0052	0.0002	0	0.0102	0.0007	0.0033	0.0145	0.407	0.10245	T	0.287	0.22359	T	0.974	0.58310	D	0.414	0.44992	B	0.021837	0.26754	N	0.250565	0.556283	0.32175	D	2.2	0.62015	M	-0.75	0.73311	T	-0.42	0.15379	N	0.517	0.56145	-0.8710	0.50454	T	0.157	0.48993	T	10	0.008104086	0.00184	T	.	.	.	0.294	0.61388	.	.	0.265929055128	0.26215	0.7810967653960785	0.78060	0.898651035483	0.70561	0.87642711401	0.93474	D	0.002621	0.02014	T	-0.302644	0.08411	T	-0.19518	0.55102	T	0.0268339709310298	0.01521	T	0.80002	0.44558	T	0.6073222	0.73084	0.5177215	0.72135	0.6073222	0.73086	0.5177215	0.72135	-7.537	0.65955	D	.	.	0.219	0.50979	B	.;.	.;.	5.029439	0.83645	28.1	0.99476158142093163	0.66633	0.73256	0.35836	D	AEFDGBCI	0.412607	0.48261	N	0.206002313625114	0.51488	3.329773	0.251847357089408	0.52754	3.448195	0.999999999999594	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.492483	0.08430	1	.	.	3.99	3.99	0.45527	5.404000	0.66088	9.559000	0.80991	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	13.971	0.63755	279	0.89001	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016667	0.025510	0.023098	0.014620	0.000000	0.000000	0.006135	0.018939	0.02632	1871.33	36	chr1	161098638	.	G	A	1871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=751;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=2.35;SOR=0.593	GT:AD:DP:GQ:PL	0/1:44,70:114:99:1885,0,949	18	0	1	0
chr1	179814026	179814026	C	T	exonic	FAM163A	.	nonsynonymous SNV	FAM163A:NM_001329712:exon5:c.C341T:p.P114L,FAM163A:NM_001329715:exon5:c.C341T:p.P114L,FAM163A:NM_001329718:exon5:c.C341T:p.P114L,FAM163A:NM_001329719:exon5:c.C341T:p.P114L,FAM163A:NM_173509:exon5:c.C341T:p.P114L,FAM163A:NM_001329713:exon6:c.C341T:p.P114L,FAM163A:NM_001329717:exon6:c.C341T:p.P114L,FAM163A:NM_001329714:exon7:c.C341T:p.P114L,FAM163A:NM_001329716:exon7:c.C341T:p.P114L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.014904072448	.	0.000199681	3.317e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs573470357	1.027e-05	1.026e-05	5.447e-06	1.514e-05	0.0002	6.17e-06	4.89e-06	9.798e-05	7.844e-05	0	0	0	0	0	0	0	1.657e-05	0.0002	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.094	0.31383	T	0.458	0.12668	T	0.557	0.38282	P	0.215	0.37512	B	0.000801	0.41772	D	0.000000	0.997388	0.43845	D	1.04	0.26193	L	.	.	.	-1.49	0.36385	N	0.199	0.21969	-0.9711	0.36967	T	0.103	0.37844	T	9	0.10419381	0.19196	T	0.014904	0.35312	T	0.049	0.13647	0.376	0.38994	0.043077524339	0.03247	0.456916657671886	0.45609	0.615720585361	0.56053	0.582476615906	0.50434	T	0.030676	0.21687	T	-0.289733	0.09663	T	-0.374523	0.36360	T	0.199352234601974	0.20380	T	0.785321	0.42297	T	0.08740978	0.20353	0.117856696	0.28451	0.08740978	0.20352	0.117856696	0.28450	-2.724	0.07506	T	.	.	0.126	0.26607	B	.	.	4.498856	0.70345	25.5	0.99669416978583381	0.78458	0.86155	0.45383	D	AEFDBCI	0.591953	0.58785	D	0.0457351187334584	0.43946	2.677782	0.146017887553991	0.46932	2.93121	0.999999645939172	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.44	3.44	0.38486	3.404000	0.52371	4.868000	0.45538	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.6095:0.3905:0.0	11.765	0.51195	435	0.80441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1580.33	34	chr1	179814026	.	C	T	1580.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.298;DP=789;ExcessHet=0;FS=2.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.01;SOR=0.482	GT:AD:DP:GQ:PL	0/1:82,62:144:99:1594,0,2227	18	0	1	0
chr1	180189663	180189663	G	A	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon9:c.G1129A:p.D377N,QSOX1:NM_002826:exon9:c.G1129A:p.D377N	.	.	.	.	.	.	.	.	.	.	.	4057318	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.0023824538425	.	0.000199681	5.795e-05	0	0	0.0001	0	1.504e-05	0	0.0003	5.17e-05	8	154602	rs568957643	1.986e-05	1.984e-05	1.635e-05	2.34e-05	0.0002	1.393e-05	1.204e-05	0.0002	0.0001	0	4.481e-05	0	2.521e-05	0	0	3.6e-06	3.317e-05	0.0002	1.97e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.04355	B	0.006659	0.31890	N	0.409391	0.977566	0.25304	N	-2.08	0.00163	N	3.78	0.16640	T	2.86	0.00162	N	0.123	0.11483	-0.9244	0.44943	T	0.007	0.02558	T	10	0.016710788	0.00353	T	0.002382	0.04646	T	0.065	0.18881	0.355	0.35571	0.126345400529	0.12197	0.21767843879875487	0.21683	0.113037814905	0.12762	0.24559289217	0.03317	T	0.014904	0.12601	T	-0.595417	0.00155	T	-0.79686	0.01982	T	0.0111947160621736	0.00164	T	0.577542	0.20782	T	0.076088	0.17185	0.07547164	0.16617	0.076088	0.17184	0.07547164	0.16617	0.945	0.00139	T	.	.	0.066	0.02518	B	.;.	.;.	1.297300	0.16988	12.89	0.31410894903030512	0.01769	0.07092	0.13118	N	AEFBI	0.033258	0.03908	N	-1.38166704020612	0.02810	0.1246199	-1.10655821548202	0.07574	0.3689521	0.863790756667826	0.25277	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	1.51	0.22094	4.062000	0.57206	3.487000	0.38689	-1.351000	0.01191	1.000000	0.71638	0.024000	0.20971	0.213000	0.22268	0.8613:0.0:0.1387:0.0	10.739	0.45342	777	0.48198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	528.33	38	chr1	180189663	.	G	A	528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=668;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.377;SOR=0.465	GT:AD:DP:GQ:PL	0/1:21,22:43:99:542,0,442	18	0	1	0
chr1	183240176	183240176	C	T	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon21:c.C3206T:p.T1069M,LAMC2:NM_018891:exon21:c.C3206T:p.T1069M	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	0	1505	16	1	0	18	0.00594452	.	.	.	192764	Junctional_epidermolysis_bullosa|not_provided|not_specified	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.020	0.035107464282	0.0008	0.000998403	0.0019	0.0004	0.0008	0	0	0.0009	0.0044	0.0091	0.0015912	246	154602	rs139043074	0.0013	0.0013	0.0010	0.0016	0.0088	0.0012	0.0012	0.0082	0.0080	0.0002	0.0004	0.0007	2.519e-05	7.488e-05	0.0047	0.0009	0.0013	0.0088	0.0010	0.0010	0.0009	0.0012	0.0079	0.0009	0.0008	0.0059	0.0052	0.0003	0	0.0010	0.0012	0	9.438e-05	0.0136	0.0011	0.0024	0.0079	0.15	0.24661	T	0.159	0.31527	T	0.002	0.09854	B	0.004	0.10090	B	0.235698	0.03548	N	1.492780	1	0.08975	N	0.49	0.13296	N	2.42	0.77964	T	-0.28	0.11547	N	0.113	0.10056	-0.9493	0.41092	T	0.183	0.53179	T	10	0.0037301779	0.00069	T	0.035107	0.56125	D	0.020	0.03691	.	.	0.392855499163	0.38900	0.19013853192454916	0.18931	0.116372656426	0.13123	0.223327606916	0.01510	T	0.053413	0.29437	T	-0.560059	0.00253	T	-0.570581	0.15397	T	0.000610280558132899	0.00005	T	0.408659	0.10529	T	0.011729313	0.00021	0.02869546	0.01131	0.011143341	0.00014	0.029973174	0.01396	-5.196	0.39665	T	0.08356276600892182	0.04525	0.084	0.09917	B	.;.	.;.	-0.896380	0.00931	0.035	0.89864506542672795	0.19169	0.01268	0.04441	N	AEFDBI	0.054638	0.09951	N	-1.41869216022294	0.02475	0.1093332	-1.45828537975067	0.02696	0.1244767	0.999999244737839	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.69	-5.57	0.02321	-1.981000	0.01580	-4.289000	0.02236	-0.941000	0.02090	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0947:0.471:0.1757:0.2586	4.365	0.10655	518	0.74548	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1789.33	33	chr1	183240176	.	C	T	1789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.44;DP=777;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-2.252;SOR=0.896	GT:AD:DP:GQ:PL	0/1:70,73:143:99:1803,0,1781	18	0	1	0
chr1	201211311	201211311	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G6418A:p.A2140T	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.390033536479	0.0039	0.00279553	0.0057	0.0006	0	0	0	0.0052	0	0.0078	0.0010543	163	154602	rs143641590	0.0042	0.0040	0.0041	0.0044	0.0086	0.0041	0.0041	0.0080	0.0078	0.0004	0.0008	0.0011	0	0.0037	0.0055	0.0044	0.0030	0.0086	0.0029	0.0030	0.0029	0.0030	0.0064	0.0027	0.0026	0.0047	0.0042	0.0006	0	0.0015	0.0009	0	0.0035	0.0069	0.0048	0.0009	0.0064	0.001	0.78490	D	0.092	0.39954	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	-2.64	0.90147	D	-0.11	0.08653	N	0.049	0.02088	-0.7399	0.58457	T	0.292	0.66393	T	6	0.010076821	0.00226	T	0.390034	0.93167	D	0.158	0.41098	.	.	0.317958651998	0.31400	0.2304152134897308	0.22956	.	.	0.344711065292	0.17139	T	.	.	.	-0.511841	0.00490	T	-0.50231	0.22107	T	0.0201916370674393	0.00719	T	0.39496	0.09912	T	.	.	.	.	.	.	.	.	-8.245	0.62727	D	.	.	0.113	0.22208	B	.	.	0.081369	0.04875	1.462	0.98943487527101981	0.48997	0.04989	0.10761	N	AEFBI	0.057925	0.10829	N	-0.911465524993964	0.10573	0.5058905	-1.06009636363169	0.08497	0.4181005	1.55422063110687E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.24	0.028	0.13477	-2.225000	0.01295	-6.135000	0.01486	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1205:0.1959:0.4828:0.2009	2.137	0.03536	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001529	0.005882	0.008929	0.008197	0.000000	0.000000	0.000000	0.000000	0.02632	3347.33	102	chr1	201211311	.	G	A	3347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=3778;ExcessHet=0;FS=0.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.78;MQRankSum=2.64;QD=11.31;ReadPosRankSum=0.681;SOR=0.759	GT:AD:DP:GQ:PL	0/1:159,137:296:99:3361,0,4063	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|1:111,19:130:99:0|1:204444146_C_T:100,0,3884:204444146	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,19:130:99:0|1:204444146_C_T:100,0,3884:204444146	9	0	10	0
chr1	209617996	209617996	G	A	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon19:c.C2962T:p.R988W,LAMB3:NM_000228:exon20:c.C2962T:p.R988W,LAMB3:NM_001127641:exon20:c.C2962T:p.R988W	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	540776	not_specified|Amelogenesis_imperfecta_type_1A|Junctional_epidermolysis_bullosa_gravis_of_Herlitz|Junctional_epidermolysis_bullosa,_non-Herlitz_type|Junctional_epidermolysis_bullosa|not_provided	MedGen:CN169374|MONDO:MONDO:0007094,MedGen:C4011403,OMIM:104530,Orphanet:88661|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.050599328836	0.0007	0.000599042	0.0010	0.0005	0.0004	0	0.0002	0.0013	0.0044	0.0010	0.000925	143	154602	rs2229467	0.0010	0.0010	0.0010	0.0010	0.0011	0.0009	0.0009	0.0010	0.0010	0.0004	0.0006	0.0006	0.0001	0.0007	0.0010	0.0010	0.0010	0.0011	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0007	0.0009	0	0.0003	0	0.0010	0.0014	0.0008	0.009	0.57480	D	0.002	0.79402	D	0.984	0.60733	D	0.482	0.47127	P	0.003574	0.34767	N	0.282882	0.936442	0.26917	N	2.625	0.76847	M	1.92	0.23082	T	-3.25	0.68651	D	0.804	0.80669	-1.0633	0.10950	T	0.056	0.23450	T	10	0.025251806	0.00725	T	0.050599	0.64308	D	0.113	0.31778	.	.	0.582009938455	0.57872	0.324577760115355	0.32370	0.39025538496	0.40245	0.504817962646	0.39499	T	0.414192	0.76782	T	-0.365599	0.03823	T	-0.343486	0.39949	T	0.0375066812358608	0.03244	T	0.889711	0.63097	D	0.100896165	0.23828	0.13259731	0.31816	0.12248884	0.28783	0.15913592	0.37127	-8.048	0.61397	D	0.7697860856862525	0.85087	0.102	0.26419	B	.;.;.;.	.;.;.;.	4.407602	0.68162	25.2	0.99899868117175306	0.97199	0.06091	0.12066	N	AEFDGBHCI	0.551612	0.56361	D	-0.131438524145152	0.36028	2.07707	-0.184881335122445	0.32090	1.822369	0.999999828027718	0.74766	0.615465	0.37627	0	0.659912	0.62753	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.47	1.91	0.24841	1.461000	0.34866	4.775000	0.44799	0.661000	0.55757	0.247000	0.24819	0.960000	0.29291	0.599000	0.31363	0.0:0.0:0.3571:0.6428	13.431	0.60503	957	0.09725	.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	843.33	33	chr1	209617996	.	G	A	843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.553;DP=696;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.06;SOR=0.534	GT:AD:DP:GQ:PL	0/1:34,35:69:99:857,0,822	18	0	1	0
chr1	211360765	211360765	A	G	exonic	TRAF5	.	nonsynonymous SNV	TRAF5:NM_001033910:exon6:c.A607G:p.I203V,TRAF5:NM_001319207:exon6:c.A640G:p.I214V,TRAF5:NM_004619:exon6:c.A607G:p.I203V,TRAF5:NM_145759:exon6:c.A607G:p.I203V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00754882984455	.	0.000599042	0.0004	0	0	0	0	0	0	0.0033	0.0003687	57	154602	rs537874767	0.0003	0.0003	0.0002	0.0004	0.0046	0.0003	0.0003	0.0042	0.0041	0	0	0	2.519e-05	0	0.0002	1.799e-06	0.0002	0.0046	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0	0	0	0.0068	0.169	0.22920	T	0.327	0.18732	T	0.909	0.50183	P	0.644	0.52249	P	0.233487	0.15867	N	0.658252	0.728672	0.81001	D	2.09	0.57893	M	1.47	0.31987	T	-0.57	0.17210	N	0.072	0.04668	-1.1146	0.02703	T	0.099	0.36856	T	10	0.00897485	0.00203	T	0.007549	0.20033	T	0.081	0.23632	0.556	0.67409	0.423597194605	0.41979	0.26889769451675694	0.26802	0.120721004158	0.13590	0.461989223957	0.33584	T	0.071494	0.34221	T	-0.473319	0.00811	T	-0.453187	0.27346	T	0.112716055916659	0.13703	T	0.628837	0.24395	T	0.05758924	0.11479	0.07042655	0.14962	0.05758924	0.11478	0.07042655	0.14962	-4.433	0.30001	T	.	.	0.088	0.12037	B	.;.;.	.;.;.	2.210913	0.28203	17.72	0.98863238313784718	0.47511	0.79582	0.39463	D	AEFBI	0.145284	0.26845	N	0.101380256573728	0.46527	2.891711	0.099529484987303	0.44525	2.732611	0.135850223909901	0.17180	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.31	4.15	0.47978	1.207000	0.31938	2.815000	0.34930	0.691000	0.84096	0.990000	0.36992	0.946000	0.28899	0.912000	0.44740	0.8428:0.1572:0.0:0.0	10.928	0.46413	900	0.24599	Zinc finger, TRAF-type|Zinc finger, TRAF-type;Zinc finger, TRAF-type|Zinc finger, TRAF-type;Zinc finger, TRAF-type|Zinc finger, TRAF-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	.	.	.	.	.	.	.	.	0.02632	1355.33	42	chr1	211360765	.	A	G	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.024;DP=789;ExcessHet=0;FS=8.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.705;SOR=0.554	GT:AD:DP:GQ:PL	0/1:71,58:129:99:1369,0,1836	18	0	1	0
chr1	216246761	216246761	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon13:c.G2633A:p.R878H,USH2A:NM_206933:exon13:c.G2633A:p.R878H	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	172775	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|Retinitis_pigmentosa|not_provided|not_specified	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	7.7e-05	0.00499201	0.0021	9.61e-05	0.0003	0	0	0.0001	0	0.0143	0.0018693	289	154602	rs200124505	0.0010	0.0010	0.0007	0.0013	0.0131	0.0009	0.0009	0.0124	0.0122	2.987e-05	0.0002	0	2.519e-05	0	0.0007	0.0002	0.0012	0.0131	0.0006	0.0006	0.0004	0.0008	0.0155	0.0005	0.0005	0.0127	0.0117	7.218e-05	0	0.0001	0	0	0	0	0.0002	0	0.0155	0.301	0.14449	T	0.654	0.06643	T	0.002	0.11197	B	0.003	0.11217	B	0.104334	0.19708	N	0.365745	1	0.08975	N	1.05	0.26816	L	0.09	0.61443	T	-0.75	0.21003	N	0.151	0.16028	-0.9974	0.30646	T	0.082	0.32295	T	10	0.009725839	0.00219	T	.	.	.	0.195	0.47612	.	.	0.73842462645	0.73608	0.20386600860584994	0.20303	0.0342666429461	0.03602	0.170544594526	0.00034	T	0.034612	0.23389	T	-0.598006	0.00150	T	-0.619446	0.11228	T	0.0122396350170308	0.00197	T	0.763224	0.38939	T	0.028714685	0.02252	0.025102153	0.00544	0.027744854	0.02010	0.027636485	0.00932	-3.654	0.18641	T	0.13993655782441047	0.15617	0.061	0.01428	B	.;.	.;.	0.611860	0.09802	6.568	0.64041821937881915	0.07385	0.01485	0.04937	N	AEFDGBI	0.040336	0.05986	N	-1.29275338961599	0.03762	0.1686211	-1.30793602485554	0.04326	0.2038404	0.39500622044745	0.20080	0.487112	0.14033	0	0.573888	0.26702	0	0.507148	0.09336	0	0.564101	0.26826	0	.	.	6.03	-5.96	0.02047	-0.695000	0.05211	-4.773000	0.01992	-0.176000	0.10722	0.002000	0.15269	0.000000	0.08366	0.997000	0.79791	0.0896:0.3759:0.0918:0.4427	5.008	0.13642	870	0.31527	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	2774.33	34	chr1	216246761	.	C	T	2774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=864;ExcessHet=0;FS=1.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.429;SOR=0.618	GT:AD:DP:GQ:PL	0/1:116,109:225:99:2788,0,2828	18	0	1	0
chr1	219958997	219958997	T	C	exonic	SLC30A10	.	nonsynonymous SNV	SLC30A10:NM_001376929:exon1:c.A22G:p.S8G	Hypermanganesemia with dystonia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	42.28	.	chr1	219958997	.	T	C	42.28	.	AC=2;AF=0.125;AN=16;DP=10;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=60;QD=21.14;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	7	1	0	11
chr1	225353859	225353862	AAAC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11590_11593del:p.K3864Sfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.874e-06	4.655e-05	7.26e-06	4.456e-06	7.615e-06	2.53e-06	1.83e-06	3.28e-06	2.37e-06	0	0	0	0	0	0	7.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	110.79	33	chr1	225353858	.	GAAAC	G	110.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.34;DP=753;ExcessHet=0.119;FS=87.185;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=2.49;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,7:55:46:0|1:225353858_GAAAC_G:46,0,1848:225353858	17	0	2	0
chr1	225353860	225353860	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	262.36	36	chr1	225353860	.	A	*	262.36	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.991;DP=1066;ExcessHet=0.7564;FS=260.681;InbreedingCoeff=-0.1456;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.76;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,7:55:46:0|1:225353858_GAAAC_G:46,0,1848:225353858	16	0	2	1
chr1	225353861	225353861	A	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	869.52	36	chr1	225353861	.	A	*	869.52	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-2.045;DP=1063;ExcessHet=2.0135;FS=206.778;InbreedingCoeff=-0.3117;MLEAC=3;MLEAF=0.115;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=0.977;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,7:55:46:0|1:225353858_GAAAC_G:46,0,1848:225353858	11	0	2	6
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1172.62	36	chr1	225353862	.	C	CGGGG	1172.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-0.853;DP=1106;ExcessHet=2.0135;FS=185.32;InbreedingCoeff=-0.246;MLEAC=4;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=2.05;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,7:55:46:0|1:225353858_GAAAC_G:46,0,1848:225353858	12	0	4	3
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V,ENAH:NM_001008493:exon7:c.C1106T:p.A369V,ENAH:NM_018212:exon7:c.C1106T:p.A369V,ENAH:NM_001377481:exon8:c.C1163T:p.A388V,ENAH:NM_001377482:exon8:c.C1163T:p.A388V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	371.5	33	chr1	225514708	.	G	A	371.5	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-2.545;DP=1500;ExcessHet=0.3672;FS=220.131;InbreedingCoeff=-0.243;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=-0.256;SOR=11.083	GT:AD:DP:GQ:PL	0/1:61,31:92:85:85,0,904	9	0	3	7
chr1	228304563	228304563	A	-	exonic	OBSCN	.	frameshift deletion	OBSCN:NM_001271223:exon53:c.14263delA:p.R4755Gfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.113e-05	0	0	0	0	1.5e-05	0.0011	0.0005	7.12e-05	11	154602	rs757235385	5.679e-05	5.746e-05	3.267e-05	8.114e-05	0.0008	4.677e-05	4.302e-05	0.0007	0.0006	0	0	0	7.557e-05	0	0.0002	6.296e-06	0	0.0008	3.284e-05	3.281e-05	2.57e-05	4.029e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3103.29	37	chr1	228304562	.	CA	C	3103.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.738;DP=890;ExcessHet=0;FS=3.439;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.04;SOR=0.987	GT:AD:DP:GQ:PL	0/1:101,95:196:99:3117,0,3379	18	0	1	0
chr1	236017198	236017198	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.G2204A:p.R735H	.	425	1034	60	3	0	66	0.0309278	.	.	.	696593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.575	.	0.0035	0.00758786	0.0087	0.0014	0.0035	0.0003	0.0194	0.0075	0.0088	0.0220	0.0078654	1216	154602	rs140374909	0.0060	0.0060	0.0054	0.0066	0.0298	0.0059	0.0059	0.0262	0.0248	0.0016	0.0038	0.0204	0.0004	0.0201	0.0298	0.0041	0.0076	0.0211	0.0058	0.0059	0.0049	0.0068	0.0193	0.0055	0.0054	0.0162	0.0150	0.0013	0	0.0065	0.0204	0.0010	0.0193	0.0274	0.0050	0.0062	0.0193	0.065	0.36310	T	0.051	0.47828	T	0.562	0.38380	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	-3.04	0.92357	D	-4.0	0.74051	D	0.899	0.89912	0.218	0.86206	D	0.586	0.85136	D	10	0.02833268	0.00966	T	.	.	.	0.575	0.82799	.	.	0.877072477656	0.87587	0.5254772813322914	0.52471	0.862312818367	0.69017	0.457313537598	0.32942	T	0.474465	0.80590	T	-0.00145907	0.51454	T	0.240723	0.85180	D	0.0331431175979164	0.02495	T	0.853215	0.53849	D	0.27889568	0.50942	0.32720947	0.58620	0.27032858	0.50105	0.32720947	0.58620	-5.801	0.44583	T	0.3513368987681945	0.44852	0.073	0.04640	B	.	.	4.355198	0.66921	25.0	0.99925081920638503	0.99042	0.95391	0.64536	D	AEFBCI	0.942119	0.94628	D	0.369368960004452	0.59769	4.159	0.514997655487685	0.68997	5.298048	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	7.548000	0.81103	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	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	0.034778	0.015152	0.033967	0.047059	0.000000	0.034483	0.045732	0.018939	0.1053	5515.43	33	chr1	236017198	.	C	T	5515.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.22;DP=1025;ExcessHet=0.7564;FS=1.101;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.766;SOR=0.816	GT:AD:DP:GQ:PL	0/1:72,59:131:99:1296,0,1589	15	0	4	0
chr1	236142638	236142638	C	T	exonic	GPR137B	.	nonsynonymous SNV	GPR137B:NM_003272:exon1:c.C16T:p.P6S	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0163597607441	.	0.000798722	0.0039	0	0	0	0	0	0	0.0053	0.0001552	24	154602	rs539406117	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0020	0.0019	3.52e-05	0	0	2.99e-05	0	0.0009	8.115e-05	0.0003	0.0023	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	8.776e-05	0.0014	0.0011	0	0	6.558e-05	0	0	0	0	0.0001	0.0010	0.0025	0.054	0.38633	T	0.224	0.25591	T	0.0	0.02946	B	0.0	0.01387	B	0.535095	0.11596	N	0.720289	1	0.08975	N	1.5	0.37844	L	1.04	0.40218	T	-0.44	0.14588	N	0.053	0.02462	-1.0233	0.22638	T	0.059	0.24575	T	10	0.0050087273	0.00108	T	0.01636	0.37579	T	0.023	0.04649	0.253	0.19223	0.0762999501168	0.06990	0.4420364352377306	0.44120	1.00411457125	0.74521	0.768823385239	0.77249	T	0.017084	0.13999	T	-0.62321	0.00105	T	-0.674142	0.07345	T	0.0227066647893203	0.00989	T	0.436356	0.11970	T	0.03001947	0.02593	0.052863203	0.08793	0.03001947	0.02593	0.052863203	0.08792	-3.931	0.22768	T	.	.	0.071	0.04002	B	.	.	1.278290	0.16779	12.76	0.96289857927888323	0.29311	0.14210	0.18282	N	AEFDGBHCI	0.076735	0.15444	N	-1.35046655135678	0.03120	0.1388649	-1.4034008044774	0.03218	0.1496476	0.999999999788651	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	3.56	-1.04	0.09555	0.333000	0.19512	-0.487000	0.08883	-0.468000	0.05098	0.067000	0.21986	0.000000	0.08366	0.513000	0.29313	0.1598:0.2823:0.3154:0.2426	1.002	0.01387	707	0.57054	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001943	0.000000	0.000000	0.000000	0.000000	0.000000	0.010870	0.000000	0.02632	375.33	35	chr1	236142638	.	C	T	375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.328;DP=614;ExcessHet=0;FS=2.231;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.232;SOR=0.223	GT:AD:DP:GQ:PL	0/1:12,14:26:99:389,0,357	18	0	1	0
chr1	240207788	240207788	-	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2976_2977insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG,FMN2:NM_001305424:exon6:c.2988_2989insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1108_V1109insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4008224	Intellectual_disability,_autosomal_recessive_47	MONDO:MONDO:0014524,MedGen:C4015444,OMIM:616193,Orphanet:88616	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	3.297e-05	0	0	0	0	5.93e-05	0	0	3.84e-05	1	26028	rs746761716	0.0040	0.0069	0.0039	0.0042	0.0132	0.0039	0.0039	0.0119	0.0113	0.0055	0.0029	0.0121	0.0132	0.0047	0.0110	0.0032	0.0061	0.0071	2.121e-05	0.0005	0	4.471e-05	4.004e-05	0	0	.	.	0	0	0	0	0	0	0	4.004e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1279.48	83	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	1279.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.459;DP=884;ExcessHet=0.3672;FS=0.686;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=50.91;MQRankSum=1.45;QD=10.94;ReadPosRankSum=-0.302;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,37:49:99:0|1:240207775_C_T:1293,0,351:240207775	18	0	1	0
chr1	240207821	240207821	-	CCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.3009_3010insCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG,FMN2:NM_001305424:exon6:c.3021_3022insCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA:p.G1108_V1109insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.791e-05	0	0	0	0	3.05e-05	0	0	.	.	.	.	0.0004	0.0003	0.0004	0.0005	0.0015	0.0003	0.0003	0.0004	0.0003	0.0007	0	0.0009	0.0001	0.0012	0.0015	0.0003	0.0004	0.0007	0	9.846e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	916.56	21	chr1	240207821	.	T	TCCCGGAGCGGGCATACCTCCTCCACCCCCTCTA	916.56	.	AC=1;AF=0.038;AN=26;BaseQRankSum=1.6;DP=536;ExcessHet=0.442;FS=0.899;InbreedingCoeff=-0.0828;MLEAC=1;MLEAF=0.038;MQ=47.29;MQRankSum=-0.475;QD=11.32;ReadPosRankSum=-0.195;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,3:13:99:.:.:698,0,271:.	12	0	1	6
chr1	248273028	248273028	G	A	exonic	OR2T33	.	nonsynonymous SNV	OR2T33:NM_001004695:exon1:c.C787T:p.H263Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000476093075918	.	0.000199681	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs200994863	9.577e-06	9.577e-06	1.089e-05	8.251e-06	1.259e-05	5.56e-06	4.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	0	0	1.314e-05	1.312e-05	0	2.688e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.439661	0.12643	N	0.588159	1	0.08975	N	-0.365	0.03101	N	8.74	0.00084	T	1.42	0.00815	N	0.113	0.10056	-1.0139	0.25688	T	0.000	0.00039	T	10	0.020768583	0.00485	T	4.76E-4	0.00124	T	0.010	0.01040	.	.	0.225215365344	0.22153	0.027804503530383707	0.02730	1.21183374403	0.80855	0.269037842751	0.06015	T	8.53E-4	0.00427	T	-0.393471	0.02554	T	-0.80297	0.01829	T	0.0452695043222364	0.04652	T	0.0359464	0.00247	T	0.03459954	0.03913	0.037476975	0.03410	0.03459954	0.03912	0.037476975	0.03410	-3.45	0.15738	T	.	.	0.071	0.04002	B	.;.	.;.	-0.529809	0.01774	0.136	0.22918521302662503	0.00945	0.00212	0.01206	N	AEFI	0.016593	0.00382	N	-1.65358008175169	0.01020	0.04422387	-1.60022057150147	0.01654	0.07508204	3.00493607835385E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.77	0.561	0.16471	-1.730000	0.01954	-20.000000	0.00162	-1.143000	0.01438	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3963:0.0:0.6037:0.0	5.510	0.16167	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2248.33	37	chr1	248273028	.	G	A	2248.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=838;ExcessHet=0;FS=0.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.73;MQRankSum=0.227;QD=11.9;ReadPosRankSum=0.538;SOR=0.622	GT:AD:DP:GQ:PL	0/1:108,81:189:99:2262,0,2850	18	0	1	0
chr2	17703266	17703266	T	C	exonic	SMC6	.	nonsynonymous SNV	SMC6:NM_024624:exon18:c.A2033G:p.K678R,SMC6:NM_001142286:exon19:c.A2033G:p.K678R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00997281987407	.	.	4.981e-05	0	8.688e-05	0	0	7.525e-05	0	0	3.88e-05	6	154602	rs746393867	1.377e-05	1.505e-05	1.096e-05	1.662e-05	2.35e-05	9e-06	7.31e-06	9.34e-06	7.64e-06	0	2.35e-05	0	0	0	0	1.534e-05	1.666e-05	1.188e-05	1.971e-05	1.97e-05	2.57e-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	0.574	0.09989	T	0.739	0.05054	T	0.067	0.25437	B	0.092	0.30031	B	0.000652	0.42656	D	0.273852	0.997902	0.22451	N	1.555	0.39373	L	2.56	0.30133	T	-1.44	0.35597	N	0.134	0.13055	-1.0160	0.25013	T	0.046	0.19559	T	10	0.06867799	0.09746	T	0.009973	0.25946	T	0.112	0.31546	.	.	0.45063746488	0.44684	0.4814624249199758	0.48066	0.264083622644	0.28960	0.430944859982	0.29337	T	0.049419	0.28301	T	-0.277455	0.10940	T	-0.44333	0.28436	T	0.0680532322042851	0.08376	T	0.684832	0.29327	T	0.045573022	0.07481	0.058302917	0.10752	0.045573022	0.07481	0.058302917	0.10751	-5.415	0.41063	T	.	.	0.083	0.09433	B	.;.;.;.	.;.;.;.	2.237587	0.28571	17.84	0.96776308123045918	0.31057	0.87964	0.47691	D	AEFGBI	0.107620	0.21436	N	-0.279536888089543	0.29939	1.664827	-0.0976824734315523	0.35485	2.053596	0.964460018604297	0.28761	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	5.85	0.93663	2.286000	0.43158	4.984000	0.46482	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.495000	0.28905	0.1295:0.0696:0.0:0.801	7.273	0.25443	543	0.72751	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	434.33	24	chr2	17703266	.	T	C	434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.136;DP=700;ExcessHet=0;FS=4.016;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.155;SOR=0.303	GT:AD:DP:GQ:PL	0/1:32,21:53:99:448,0,848	18	0	1	0
chr2	20641063	20641063	G	A	exonic	HS1BP3	.	nonsynonymous SNV	HS1BP3:NM_022460:exon3:c.C316T:p.R106W	.	413	1090	19	0	0	19	0.00864029	.	.	.	2815565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0048	0.00339457	0.0062	0.0013	0.0022	0	0.0109	0.0063	0.0121	0.0125	0.0059702	923	154602	rs77551133	0.0064	0.0064	0.0062	0.0065	0.0121	0.0063	0.0062	0.0115	0.0113	0.0009	0.0020	0.0025	2.519e-05	0.0123	0.0052	0.0064	0.0045	0.0121	0.0046	0.0046	0.0043	0.0050	0.0102	0.0044	0.0042	0.0079	0.0071	0.0012	0	0.0022	0.0023	0	0.0153	0	0.0058	0.0047	0.0102	0.054	0.48186	T	0.032	0.70582	D	0.997	0.77913	D	0.765	0.56630	P	0.092385	0.20277	N	0.446588	0.594034	0.30996	N	1.95	0.52479	M	1.02	0.40749	T	-4.21	0.75776	D	0.341	0.38232	-0.7344	0.58740	T	0.122	0.42272	T	10	0.009174973	0.00207	T	.	.	.	0.259	0.57090	.	.	0.705520150151	0.70295	0.5890232378770209	0.58832	0.600032869069	0.55099	0.298230230808	0.10138	T	0.086352	0.37705	T	-0.397794	0.02394	T	-0.332504	0.41190	T	0.0378201190708157	0.03301	T	0.807619	0.45757	T	0.160197	0.35944	0.16618338	0.38405	0.160197	0.35944	0.16618338	0.38404	-10.295	0.75659	D	.	.	0.113	0.40328	B	.;.;.	.;.;.	5.055280	0.84232	28.3	0.99912922628318579	0.98167	0.82479	0.41700	D	AEFDGBI	0.585698	0.58402	D	0.478639783646004	0.65843	4.87388	0.467781191708504	0.65866	4.878311	0.999999785074722	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.65	4.65	0.57626	2.659000	0.46406	6.552000	0.55914	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0949:0.0:0.9051:0.0	11.576	0.50116	850	0.35610	Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|HCLS1-binding protein 3, PX 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	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.018939	0.05263	4535.83	33	chr2	20641063	.	G	A	4535.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.94;DP=954;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.328;SOR=0.712	GT:AD:DP:GQ:PL	0/1:87,86:173:99:2379,0,1999	17	0	2	0
chr2	20667449	20667460	CCGCGCCGCGCG	-	exonic	GDF7	.	nonframeshift deletion	GDF7:NM_182828:exon1:c.210_221del:p.R74_A77del	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	.	0.2857	.	0.5	.	0.25	0.35	.	0.25	0.0006531	17	26028	rs776133674	0.0095	0.0078	0.0095	0.0096	0.0127	0.0094	0.0093	0.0116	0.0111	0.0016	0.0026	0.0012	0	0.0327	0.0093	0.0097	0.0074	0.0127	0.0068	0.0070	0.0058	0.0078	0.0111	0.0064	0.0063	0.0087	0.0079	0.0016	0	0.0020	0.0006	0	0.0298	0	0.0087	0.0054	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1682.79	14	chr2	20667448	.	CCCGCGCCGCGCG	C	1682.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.24;DP=488;ExcessHet=0.119;FS=3.628;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.85;ReadPosRankSum=0;SOR=1.215	GT:AD:DP:GQ:PL	0/1:25,24:49:99:933,0,961	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|1:47,27:74:99:0|1:23864893_T_C:319,0,552:23864893	2	0	17	0
chr2	24814395	24814395	A	G	exonic	CENPO	.	nonsynonymous SNV	CENPO:NM_001199803:exon3:c.A218G:p.N73S,CENPO:NM_001322101:exon4:c.A236G:p.N79S,CENPO:NM_024322:exon4:c.A236G:p.N79S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00312022856363	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs746934262	2.09e-06	3.421e-06	2.78e-06	1.397e-06	1.167e-05	5.6e-07	1.5e-07	3.1e-07	1.1e-07	0	0	0	0	0	0	1.839e-06	0	1.167e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	0.459	0.08762	T	0.631	0.07642	T	0.006	0.15535	B	0.003	0.12992	B	0.664612	0.06000	N	1.157430	1	0.08975	N	0.345	0.11182	N	0.95	0.43279	T	-0.6	0.17834	N	0.051	0.03069	-0.9884	0.33002	T	0.065	0.26983	T	10	0.048477292	0.04304	T	0.00312	0.06786	T	0.045	0.12272	.	.	0.20549828249	0.20151	0.1841524009536937	0.18334	0.105715252096	0.11951	0.25339075923	0.04133	T	0.009076	0.08288	T	-0.502597	0.00553	T	-0.778194	0.02508	T	0.0388677160279908	0.03486	T	0.677432	0.28627	T	0.029098568	0.02349	0.023702787	0.00383	0.029098568	0.02349	0.023702787	0.00383	-1.565	0.01902	T	.	.	0.065	0.02145	B	.;.;.	.;.;.	-0.634412	0.01480	0.092	0.81649744335412655	0.13791	0.01517	0.05008	N	AEFBI	0.036804	0.04962	N	-1.31456034440071	0.03508	0.156813	-1.31658583359338	0.04215	0.1983707	0.995940448191042	0.34425	0.744818	0.98587	0	0.724815	0.89359	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.55	-3.42	0.04521	-0.208000	0.09375	-2.452000	0.03737	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.134000	0.19723	0.3784:0.0:0.6216:0.0	12.329	0.54355	357	0.85079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1129.33	34	chr2	24814395	.	A	G	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.037;DP=724;ExcessHet=0;FS=3.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.393;SOR=0.408	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1143,0,1155	18	0	1	0
chr2	27084522	27084522	G	A	exonic	EMILIN1	.	nonsynonymous SNV	EMILIN1:NM_007046:exon5:c.G2548A:p.G850R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904	0.556831501739	.	.	3.399e-05	0	0	0	0	6.238e-05	0	0	2.59e-05	4	154602	rs758516548	1.305e-05	1.368e-05	1.504e-05	1.104e-05	5.994e-05	8.35e-06	6.73e-06	1.584e-05	9.3e-06	5.994e-05	0	3.837e-05	2.52e-05	0	0	8.129e-06	3.322e-05	4.642e-05	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.941e-05	0	0.0002	0.005	0.63226	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	4.72	0.99514	H	-6.11	0.99530	D	-2.49	0.54217	N	0.723	0.72477	1.003	0.97233	D	0.988	0.99659	D	10	0.9879998	0.99196	D	0.556832	0.95938	D	0.904	0.97361	0.968	0.99691	0.986087772393	0.98593	0.9293310447342966	0.92911	0.80887371826	0.66644	0.845298051834	0.88903	D	0.908375	0.98255	D	0.404431	0.90167	D	0.524689	0.95110	D	0.982776761054993	0.74695	D	0.992251	0.97542	D	0.40750676	0.61249	0.50917894	0.71635	0.40750676	0.61249	0.50917894	0.71636	-12.114	0.85402	D	.	.	0.874	0.81099	P	.	.	5.291427	0.88845	29.8	0.99908880182796145	0.97875	0.97437	0.74744	D	AEFDBCI	0.934922	0.92902	D	0.705188290335679	0.79974	7.192253	0.558773253387871	0.72011	5.742925	0.999999999999996	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.584781	0.30282	0	0.562822	0.20929	0	.	.	4.82	4.82	0.61641	6.846000	0.75195	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.0:0.0:1.0:0.0	15.425	0.74770	406	0.82375	.	.	.	.	.	.	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	805.33	47	chr2	27084522	.	G	A	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.538;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.662;SOR=0.706	GT:AD:DP:GQ:PL	0/1:41,35:76:99:819,0,915	18	0	1	0
chr2	37089747	37089749	AAG	-	exonic	GPATCH11	.	nonframeshift deletion	GPATCH11:NM_001322249:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371856:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371858:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371860:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371861:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371862:exon3:c.167_169del:p.E59del,GPATCH11:NM_174931:exon3:c.167_169del:p.E59del,GPATCH11:NM_001371859:exon4:c.167_169del:p.E59del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767462069	1.643e-05	1.573e-05	1.269e-05	2.028e-05	0.0002	1.094e-05	9.14e-06	0.0001	8.112e-05	3.165e-05	0	0	0.0002	0	0	1.019e-05	0	3.786e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1553.29	34	chr2	37089746	.	AAAG	A	1553.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.418;DP=743;ExcessHet=0;FS=1.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.926;SOR=0.507	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1567,0,2027	18	0	1	0
chr2	47369504	47369510	GCATGGC	-	exonic	EPCAM	.	startloss	EPCAM:NM_002354:exon1:c.1_5del:p.M1?	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.191e-07	6.84e-07	0	1.456e-06	1.277e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.277e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2128.77	16	chr2	47369503	.	AGCATGGC	A	2128.77	.	AC=2;AF=0.053;AN=38;DP=642;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.47;SOR=2.03	GT:AD:DP:GQ:PL	1/1:0,48:48:99:2156,144,0	18	1	0	0
chr2	47905538	47905538	-	GGCGGC	exonic	FBXO11	.	nonframeshift insertion	FBXO11:NM_001190274:exon1:c.182_183insGCCGCC:p.P66_L67insPP	.	.	.	.	.	.	.	.	.	.	.	1505931	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923188952	2.764e-06	2.053e-06	3.542e-06	1.921e-06	0.0001	7.4e-07	2e-07	3.6e-07	1.4e-07	0	0.0001	0	0	0	0	2.163e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1084.78	20	chr2	47905538	.	T	TGGCGGC	1084.78	.	AC=2;AF=0.053;AN=38;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=0.9959;MLEAC=2;MLEAF=0.053;MQ=60;QD=26.01;SOR=1.697	GT:AD:DP:GQ:PL	1/1:0,26:26:78:1112,78,0	18	1	0	0
chr2	55180656	55180656	G	A	exonic	CLHC1	.	nonsynonymous SNV	CLHC1:NM_001353785:exon6:c.C620T:p.T207I,CLHC1:NM_001353779:exon7:c.C674T:p.T225I,CLHC1:NM_001353782:exon8:c.C818T:p.T273I,CLHC1:NM_001353786:exon8:c.C674T:p.T225I,CLHC1:NM_001353787:exon8:c.C674T:p.T225I,CLHC1:NM_001135598:exon9:c.C872T:p.T291I,CLHC1:NM_001353780:exon9:c.C1040T:p.T347I,CLHC1:NM_001353783:exon9:c.C818T:p.T273I,CLHC1:NM_001353784:exon9:c.C872T:p.T291I,CLHC1:NM_001353781:exon10:c.C872T:p.T291I,CLHC1:NM_152385:exon11:c.C1238T:p.T413I	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0014	0.0107827	0.0051	0.0002	0.0012	0.0398	0.0077	0.0026	0.0110	0.0015	0.0047218	730	154602	rs76870665	0.0033	0.0033	0.0033	0.0034	0.0511	0.0033	0.0032	0.0492	0.0485	0.0002	0.0008	0.0039	0.0511	0.0086	0.0012	0.0016	0.0041	0.0020	0.0032	0.0032	0.0030	0.0034	0.0405	0.0030	0.0029	0.0360	0.0343	7.223e-05	0	0.0013	0.0049	0.0405	0.0072	0	0.0021	0.0043	0.0019	0.464	0.08634	T	0.228	0.25286	T	0.766	0.43754	P	0.243	0.38752	B	0.042740	0.23812	N	0.396846	1	0.18198	N	2.39	0.68882	M	2.18	0.18875	T	-1.62	0.39314	N	0.135	0.13626	-1.0448	0.15884	T	0.007	0.02399	T	10	0.0023792386	0.00035	T	.	.	.	0.025	0.05312	.	.	0.124217242631	0.12060	0.1570814942002049	0.15629	0.00918750411922	0.00832	0.358732521534	0.19201	T	0.002625	0.02014	T	-0.545462	0.00311	T	-0.519051	0.20390	T	0.00917395028099565	0.00116	T	0.734627	0.35069	T	0.06757886	0.14646	0.055721316	0.09825	0.07432854	0.16672	0.045785457	0.06238	-3.39	0.17424	T	0.2534411652156697	0.34282	0.097	0.16626	B	.;.;.	.;.;.	2.016777	0.25627	16.83	0.98784659867986335	0.46190	0.01783	0.05581	N	AEFDHCI	0.064635	0.12563	N	-0.228984072849751	0.31949	1.796694	-0.276013101367932	0.28890	1.61434	0.689165812533894	0.22568	0.638212	0.43195	0	0.667123	0.63270	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.98	3.22	0.36041	1.382000	0.33980	3.987000	0.40955	0.613000	0.49114	0.021000	0.19753	0.872000	0.27604	0.997000	0.79791	0.2467:0.0:0.5914:0.1618	4.188	0.09867	466	0.78352	.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.05263	2905.81	39	chr2	55180656	.	G	A	2905.81	.	AC=2;AF=0.053;AN=38;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.91;SOR=1.464	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2933,281,0	18	1	0	0
chr2	58048935	58048935	T	C	exonic	VRK2	.	nonsynonymous SNV	VRK2:NM_001130480:exon2:c.T104C:p.I35T,VRK2:NM_001130481:exon2:c.T104C:p.I35T,VRK2:NM_001130482:exon2:c.T35C:p.I12T,VRK2:NM_001130483:exon2:c.T104C:p.I35T,VRK2:NM_006296:exon2:c.T104C:p.I35T,VRK2:NM_001288838:exon4:c.T104C:p.I35T,VRK2:NM_001288837:exon5:c.T104C:p.I35T	.	432	1059	31	0	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	.	0.0026	0.00319489	0.0049	0.0002	0.0005	0	0.0039	0.0038	0.0121	0.0177	0.0043466	672	154602	rs144870539	0.0037	0.0037	0.0030	0.0043	0.0179	0.0036	0.0035	0.0172	0.0169	0.0003	0.0011	0.0008	2.522e-05	0.0039	0.0118	0.0029	0.0039	0.0179	0.0028	0.0028	0.0025	0.0031	0.0160	0.0026	0.0025	0.0131	0.0120	0.0004	0	0.0027	0.0006	0.0002	0.0040	0.0068	0.0035	0.0014	0.0160	0.0	0.91255	D	0.001	0.83351	D	0.955	0.58077	P	0.823	0.70482	P	0.000000	0.84330	D	0.087751	0.999707	0.48408	D	4.675	0.99424	H	-0.54	0.70950	T	-4.43	0.79998	D	0.816	0.84609	0.691	0.93060	D	0.691	0.89342	D	10	0.013455421	0.00285	T	.	.	.	0.538	0.80664	.	.	0.912745004354	0.91186	0.8664656802548126	0.86611	0.108113305918	0.12188	0.538242340088	0.44198	T	0.350059	0.71782	T	-0.0795587	0.39787	T	0.127223	0.78711	D	0.116437750245254	0.14078	T	0.836416	0.61387	T	0.90567607	0.91895	0.781187	0.87102	0.90567607	0.91896	0.781187	0.87103	-9.921	0.81373	D	.	.	0.152	0.45990	B	.;.;.;.;.;.	.;.;.;.;.;.	4.442716	0.68994	25.3	0.99838950329381626	0.91972	0.90931	0.52533	D	AEFDBCI	0.698749	0.65632	D	0.929905970733908	0.93146	11.85038	0.849755546974797	0.93001	11.76317	0.99999999725518	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	5.96	5.96	0.96695	5.175000	0.64857	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.0:1.0	14.999	0.71112	780	0.47616	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05263	2029.81	38	chr2	58048935	.	T	C	2029.81	.	AC=2;AF=0.053;AN=38;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.42;SOR=1.131	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2057,207,0	18	1	0	0
chr2	60921972	60921972	A	G	exonic	REL	.	nonsynonymous SNV	REL:NM_001291746:exon10:c.A1201G:p.T401A,REL:NM_002908:exon11:c.A1297G:p.T433A	.	431	1067	24	0	0	24	0.0111214	.	.	.	733528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	.	0.00459265	0.0033	0.0003	0.0005	0	0	0.0005	0.0077	0.0211	0.0028201	436	154602	rs140572082	0.0016	0.0016	0.0009	0.0022	0.0208	0.0015	0.0015	0.0200	0.0197	2.987e-05	0.0003	0	2.519e-05	0	0.0061	0.0003	0.0018	0.0208	0.0009	0.0009	0.0006	0.0012	0.0219	0.0008	0.0007	0.0186	0.0173	9.623e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0009	0.0219	0.931	0.02361	T	0.653	0.06666	T	0.0	0.02946	B	0.001	0.04355	B	0.975791	0.08128	N	0.989793	0.999933	0.19853	N	0.72	0.18721	N	1.06	0.40749	T	-0.55	0.23372	N	0.032	0.03956	-0.9844	0.33975	T	0.040	0.17106	T	10	0.0020952523	0.00030	T	.	.	.	0.036	0.09122	.	.	0.280695755116	0.27685	0.33204263853791494	0.33117	0.0243229922235	0.02469	0.292723655701	0.09320	T	0.079147	0.36059	T	-0.672401	0.00053	T	-0.722377	0.04681	T	0.00769686937979461	0.00090	T	0.536146	0.17993	T	0.0357839	0.04279	0.030290687	0.01466	0.0357839	0.04279	0.030290687	0.01466	-3.865	0.21779	T	.	.	0.068	0.02702	B	.;.	.;.	0.207448	0.05916	2.354	0.24107665710983678	0.01050	0.02465	0.06921	N	AEFDGBI	0.016011	0.00335	N	-1.32432753801039	0.03398	0.1517489	-1.2522205290029	0.05098	0.2421176	0.39373419388631	0.20069	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	5.4	-3.03	0.05100	-0.361000	0.07664	-0.706000	0.07772	-0.056000	0.16711	0.014000	0.18986	0.000000	0.08366	0.972000	0.54974	0.3146:0.0:0.5438:0.1415	7.564	0.27033	578	0.69858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.034091	0.1053	7382.43	34	chr2	60921972	.	A	G	7382.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.84;DP=1149;ExcessHet=0.7564;FS=1.738;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.145;SOR=0.625	GT:AD:DP:GQ:PL	0/1:84,75:159:99:2105,0,2132	15	0	4	0
chr2	61008939	61008939	G	A	exonic	PUS10	.	nonsynonymous SNV	PUS10:NM_001322123:exon3:c.C203T:p.P68L,PUS10:NM_001322124:exon3:c.C203T:p.P68L,PUS10:NM_144709:exon3:c.C203T:p.P68L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00104710804567	.	.	1.667e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756902274	6.843e-06	6.841e-06	0	1.376e-05	0.0001	3.46e-06	2.52e-06	6.248e-05	4.759e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.334	0.18340	T	0.0	0.02946	B	0.0	0.01387	B	0.715199	0.06281	N	1.141950	0.694963	0.33364	D	-1.1	0.00987	N	.	.	.	-0.57	0.17210	N	0.133	0.17553	-1.0340	0.19173	T	0.052	0.22192	T	9	0.027821809	0.00922	T	0.001047	0.01191	T	0.148	0.39182	0.235	0.16457	0.234412748748	0.23057	0.21286763807727385	0.21202	0.0383945426521	0.04090	0.270917832851	0.06262	T	0.013182	0.11452	T	-0.291597	0.09477	T	-0.453035	0.27363	T	0.0338105298578739	0.02606	T	0.788921	0.42853	T	0.03671166	0.04569	0.035783008	0.02895	0.03671166	0.04569	0.035783008	0.02895	-3.406	0.15137	T	.	.	0.069	0.08560	B	.;.;.	.;.;.	1.205238	0.15976	12.23	0.59351792919960156	0.06204	0.08191	0.14151	N	AEFBI	0.040404	0.06005	N	-0.891786353598588	0.11037	0.5305011	-0.735917907775374	0.16070	0.8483276	0.105772882933565	0.16512	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.58	-1.82	0.07433	0.267000	0.18318	2.366000	0.32401	0.618000	0.50648	0.536000	0.27236	1.000000	0.68203	0.998000	0.85391	0.6555:0.0:0.2024:0.1421	6.638	0.22083	360	0.84920	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	35	chr2	61008939	.	G	A	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.526;SOR=0.77	GT:AD:DP:GQ:PL	0/1:38,28:66:99:783,0,970	18	0	1	0
chr2	73816730	73816730	G	C	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon3:c.G2507C:p.R836P,C2orf78:NM_001353344:exon3:c.G2507C:p.R836P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00491138453729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.46	0.12597	T	0.195	0.29512	B	0.095	0.30245	B	0.297965	0.03936	N	1.732830	1	0.08975	N	-0.205	0.04094	N	1.0	0.41392	T	1.17	0.01121	N	0.121	0.11197	-1.0270	0.21429	T	0.029	0.12365	T	10	0.034401357	0.01648	T	0.004911	0.12349	T	0.052	0.14661	0.304	0.27325	0.117506650769	0.11410	0.0397730886058929	0.03923	0.127572063365	0.14372	.	.	.	0.012526	0.10994	T	-0.234935	0.16001	T	-0.575245	0.14972	T	0.114306904639911	0.13864	T	0.252475	0.03851	T	0.076651715	0.17349	0.09693446	0.23053	0.076651715	0.17349	0.09693446	0.23052	-0.484	0.00574	T	.	.	0.097	0.16010	B	.	.	-0.026197	0.04105	0.968	0.14365890704111181	0.00314	0.02797	0.07515	N	AEFBI	0.058567	0.10997	N	-1.76342496438241	0.00641	0.02764354	-1.72442710464585	0.01034	0.04636498	3.61905624874092E-5	0.03775	0.446893	0.09132	0	0.547309	0.14657	0	0.55458	0.18720	0	0.530356	0.10902	0	.	.	5.35	-3.06	0.05053	-0.291000	0.08379	-0.016000	0.12991	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3735:0.0:0.3371:0.2893	3.603	0.07576	403	0.82567	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2072.33	35	chr2	73816730	.	G	C	2072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.969;DP=840;ExcessHet=0;FS=6.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.64;SOR=0.402	GT:AD:DP:GQ:PL	0/1:111,83:194:99:2086,0,2876	18	0	1	0
chr2	86480260	86480260	T	A	exonic	KDM3A	.	nonsynonymous SNV	KDM3A:NM_001146688:exon16:c.T2410A:p.S804T,KDM3A:NM_018433:exon16:c.T2410A:p.S804T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0940854238458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.424	0.15456	T	0.0	0.02946	B	0.001	0.04355	B	0.522162	0.05208	N	1.231740	1	0.08975	N	0	0.06538	N	0.25	0.59449	T	-0.85	0.23156	N	0.104	0.12770	-0.9871	0.33323	T	0.129	0.43726	T	10	0.08136621	0.13310	T	0.094085	0.76189	D	0.205	0.49236	0.128	0.03331	0.292942362817	0.28906	0.33185839586783034	0.33098	0.100793356914	0.11392	0.306913197041	0.11440	T	0.047995	0.27888	T	-0.286999	0.09940	T	-0.650031	0.08953	T	0.0255757941327265	0.01348	T	0.545645	0.18668	T	0.05430057	0.10398	0.04178083	0.04826	0.05430057	0.10398	0.04178083	0.04826	-4.026	0.24192	T	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	0.448315	0.08186	4.919	0.81127167040217929	0.13532	0.09246	0.15041	N	AEFDBHCI	0.031224	0.03291	N	-0.978017569343422	0.09074	0.4279926	-1.05904306528592	0.08519	0.4192718	0.9999782926961	0.50053	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.86	-3.53	0.04369	-0.945000	0.04019	-0.340000	0.09823	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.186000	0.21481	0.2971:0.1977:0.1918:0.3134	0.019	0.00002	482	0.77288	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2259.33	34	chr2	86480260	.	T	A	2259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.746;DP=1033;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.66;SOR=0.671	GT:AD:DP:GQ:PL	0/1:100,94:194:99:2273,0,2648	18	0	1	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|1:272,30:302:99:0|1:94876618_C_G:441,0,11331:94876618	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|1:284,41:325:99:0|1:94876618_C_G:867,0,11779:94876618	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	0/1:318,51:369:99:.:.:1184,0,13027:.	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	0/1:311,54:365:99:.:.:1331,0,12808:.	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	0/1:333,43:376:33:.:.:33,0,8412:.	3	0	16	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:188,52:240:99:1153,0,5167	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	0/1:231,36:267:99:323,0,6653	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	0/1:196,139:335:99:3026,0,5233	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	0/1:197,95:292:99:2544,0,5485	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	0/1:250,32:282:99:198,0,9739	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	0/1:197,78:275:99:1914,0,5337	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:76,14:90:99:292,0,3088	6	0	13	0
chr2	95859919	95859922	TTTC	-	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.4933_4936del:p.E1645*	.	883	625	11	3	0	17	0.0134175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs768643439	2.009e-05	0.0015	1.84e-05	2.183e-05	6.369e-05	1.393e-05	1.199e-05	2.459e-05	1.549e-05	6.369e-05	2.828e-05	0	2.817e-05	0.0003	0	2.786e-06	3.457e-05	6.362e-05	6.589e-06	0.0009	1.289e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	230.75	104	chr2	95859918	.	ATTTC	A	230.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.928;DP=2254;ExcessHet=0.3672;FS=0.711;InbreedingCoeff=-0.0856;MLEAC=3;MLEAF=0.079;MQ=58.54;MQRankSum=-4.385;QD=0.62;ReadPosRankSum=0.84;SOR=0.583	GT:AD:DP:GQ:PL	0/1:109,11:120:99:124,0,4476	16	0	3	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|1:103,44:147:99:0|1:95859969_A_AT:1476,0,4182:95859969	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|1:104,44:148:99:0|1:95859969_A_AT:1473,0,4204:95859969	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|1:104,42:146:99:0|1:95859969_A_AT:1451,0,4189:95859969	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	0/1:101,41:142:99:1418,0,2682	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|1:104,37:141:99:0|1:95860002_T_A:1241,0,4170:95860002	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|1:102,35:137:99:0|1:95860002_T_A:1163,0,4133:95860002	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|1:95,34:129:99:0|1:95860020_G_A:1142,0,3858:95860020	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|1:94,30:124:99:0|1:95860020_G_A:977,0,3848:95860020	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	0/1:83,20:103:99:571,0,2201	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|1:141,27:168:99:0|1:95927222_G_GAT:709,0,5838:95927222	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|1:150,30:180:99:0|1:95927222_G_GAT:808,0,6207:95927222	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|1:157,43:200:99:0|1:95927222_G_GAT:1333,0,6463:95927222	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|1:178,73:251:99:0|1:95927222_G_GAT:2529,0,7254:95927222	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|1:198,100:298:99:0|1:95927222_G_GAT:3562,0,8007:95927222	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	0/1:207,103:312:99:.:.:3613,0,8218:.	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,51:189:99:0|1:95929092_T_C:1665,0,5637:95929092	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|1:158,57:215:99:0|1:95929092_T_C:1918,0,6463:95929092	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|1:169,75:244:99:0|1:95929092_T_C:2641,0,6871:95929092	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|1:170,79:249:99:0|1:95929092_T_C:2805,0,6900:95929092	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|1:171,85:256:99:0|1:95929092_T_C:3028,0,6904:95929092	0	0	19	0
chr2	96025943	96025943	C	T	exonic	GPAT2	.	nonsynonymous SNV	GPAT2:NM_001321529:exon11:c.G1012A:p.V338M,GPAT2:NM_001321530:exon11:c.G1012A:p.V338M,GPAT2:NM_001321525:exon12:c.G1225A:p.V409M,GPAT2:NM_001321526:exon12:c.G1225A:p.V409M,GPAT2:NM_001321527:exon12:c.G1225A:p.V409M,GPAT2:NM_001321528:exon12:c.G1225A:p.V409M,GPAT2:NM_207328:exon12:c.G1225A:p.V409M,GPAT2:NM_001321531:exon13:c.G1225A:p.V409M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.11103632897	8.1e-05	.	0.0003	0.0013	0.0003	0.0001	0	0.0002	0.0011	0.0003	0.0002689	7	26028	rs2692900	9.388e-05	0.0002	8.728e-05	0.0001	0.0002	8.107e-05	7.598e-05	0.0001	0.0001	0.0002	0.0001	3.83e-05	2.52e-05	0	0	8.82e-05	0.0001	0.0002	7.231e-05	0.0001	7.712e-05	6.727e-05	0.0002	3.973e-05	3.128e-05	4.765e-05	3.339e-05	2.415e-05	0	0.0001	0	0	0	0	0.0001	0	0.0002	0.029	0.45756	D	0.008	0.67890	D	0.89	0.48942	P	0.286	0.40541	B	0.000795	0.41772	D	0.172164	0.554421	0.31308	N	2.075	0.57047	M	-1.16	0.78082	T	-1.08	0.28084	N	0.449	0.50418	-0.3428	0.73762	T	0.272	0.64370	T	10	0.14049667	0.26705	T	0.111036	0.78865	D	0.299	0.61955	.	.	0.747480226326	0.74520	0.2688373911568421	0.26796	0.436534825472	0.43739	0.625965237617	0.56573	T	0.023084	0.17685	T	-0.233024	0.16250	T	-0.256344	0.49189	T	0.01862266945301	0.00576	T	0.863414	0.55914	D	0.052868087	0.09923	0.09603933	0.22802	0.052868087	0.09923	0.09603933	0.22802	-7.181	0.55345	T	.	.	0.417	0.60746	A	.;.;.	.;.;.	3.189857	0.43335	21.7	0.99720421404065829	0.81984	0.13034	0.17625	N	AEFI	0.177751	0.30500	N	-0.199704741341172	0.33148	1.877269	-0.210551811480098	0.31156	1.760607	0.00117766821663554	0.08304	0.553676	0.25195	0	0.573888	0.26702	0	0.536957	0.11973	0	0.620846	0.47308	0	.	.	4.7	3.82	0.43153	0.416000	0.20918	2.687000	0.34060	-0.227000	0.07798	0.191000	0.24200	0.992000	0.31684	0.940000	0.48062	0.1967:0.8033:0.0:0.0	10.324	0.42965	294	0.88270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000566	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004032	0.02632	674.33	37	chr2	96025943	.	C	T	674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=733;ExcessHet=0;FS=7.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.13;MQRankSum=-6.064;QD=7.84;ReadPosRankSum=0.005;SOR=1.536	GT:AD:DP:GQ:PL	0/1:58,28:86:99:688,0,1427	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|1:148,31:179:99:0|1:97185336_GC_G:856,0,6121:97185336	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|1:148,31:179:99:0|1:97185336_GC_G:856,0,6121:97185336	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|1:148,31:179:99:0|1:97185336_GC_G:856,0,6121:97185336	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|1:148,31:179:99:0|1:97185336_GC_G:856,0,6121:97185336	2	0	17	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,81:223:99:0|1:97513219_T_C:2974,0,5719:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,92:241:99:0|1:97513219_T_C:3379,0,5959:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,112:274:99:0|1:97513244_G_T:4215,0,6381:97513244	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|1:164,115:279:99:0|1:97513244_G_T:4335,0,6479:97513244	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|1:164,115:279:99:0|1:97513244_G_T:4335,0,6479:97513244	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|1:167,129:296:99:0|1:97513268_C_T:4914,0,6583:97513268	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|1:171,131:302:99:0|1:97513268_C_T:4945,0,6684:97513268	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|1:170,132:302:99:0|1:97513268_C_T:4986,0,6660:97513268	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|1:170,138:308:99:0|1:97513268_C_T:5165,0,6601:97513268	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	0/1:113,67:180:99:1346,0,2881	0	0	19	0
chr2	97738070	97738070	G	A	exonic	ZAP70	.	nonsynonymous SNV	ZAP70:NM_207519:exon5:c.G778A:p.E260K,ZAP70:NM_001378594:exon12:c.G1699A:p.E567K,ZAP70:NM_001079:exon13:c.G1699A:p.E567K	Autoimmune disease, multisystem, infantile-onset, 2, Autosomal recessive;Immunodeficiency 48, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2134890	ZAP70-Related_Severe_Combined_Immunodeficiency	MedGen:C2931299	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.307	0.042303701033	.	.	8.36e-05	0	0	0	0	0.0001	0	0.0002	4.53e-05	7	154602	rs757015607	2.264e-05	2.258e-05	1.91e-05	2.621e-05	0.0002	1.615e-05	1.42e-05	0.0001	9.516e-05	0	2.272e-05	0.0002	5.055e-05	0	0	8.108e-06	1.66e-05	0.0002	6.573e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.103	0.30097	T	0.263	0.22828	T	0.073	0.24078	B	0.007	0.12992	B	0.012936	0.29007	N	0.155218	0.999999	0.08975	N	0.975	0.24501	L	-1.76	0.83578	D	-1.71	0.46503	N	0.369	0.42050	-0.7928	0.55566	T	0.331	0.69902	T	10	0.24116066	0.41289	T	0.042304	0.60393	D	0.307	0.62838	0.559	0.67821	0.653256221078	0.65036	0.740404198590105	0.73985	0.81174973913	0.66768	0.581207633018	0.50256	T	0.656452	0.89637	D	-0.0104436	0.50204	T	-0.252778	0.49543	T	0.0686326615713895	0.08458	T	0.939306	0.77145	D	0.3714077	0.58688	0.2198691	0.46741	0.3714077	0.58689	0.2198691	0.46740	-7.993	0.61023	D	0.2192220691689077	0.29535	0.156	0.49567	B	.;.	.;.	3.797039	0.54692	23.5	0.98357199970033138	0.40608	0.79241	0.39229	D	AEFDGBCI	0.313597	0.41871	N	-0.486963256884697	0.22508	1.202291	-0.41694380296152	0.24500	1.34193	0.998951277176034	0.38059	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.13	4.13	0.47661	3.289000	0.51454	5.775000	0.49767	0.676000	0.76740	0.972000	0.34453	1.000000	0.68203	0.060000	0.15972	0.0:0.0:1.0:0.0	14.315	0.65999	456	0.79013	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	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	34	chr2	97738070	.	G	A	801.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=739;ExcessHet=0;FS=8.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.706;SOR=1.728	GT:AD:DP:GQ:PL	0/1:39,28:67:99:815,0,1001	18	0	1	0
chr2	99405959	99405959	C	A	exonic	REV1	.	nonsynonymous SNV	REV1:NM_001037872:exon17:c.G2759T:p.S920I,REV1:NM_016316:exon17:c.G2762T:p.S921I,REV1:NM_001321454:exon18:c.G2870T:p.S957I,REV1:NM_001321455:exon18:c.G2549T:p.S850I,REV1:NM_001321458:exon18:c.G1292T:p.S431I,REV1:NM_001321459:exon18:c.G1193T:p.S398I,REV1:NM_001321460:exon18:c.G1193T:p.S398I	.	440	1073	8	1	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0170279375559	0.0010	0.00119808	0.0015	0.0005	0.0037	0	0.0012	0.0013	0.0066	0.0018	0.0014553	225	154602	rs3087396	0.0011	0.0011	0.0011	0.0012	0.0035	0.0011	0.0011	0.0025	0.0023	0.0007	0.0029	0.0004	0	0.0012	0.0035	0.0010	0.0018	0.0021	0.0012	0.0012	0.0013	0.0010	0.0039	0.0010	0.0010	0.0026	0.0021	0.0005	0	0.0013	0.0006	0.0002	0.0016	0.0068	0.0014	0.0014	0.0039	0.066	0.36310	T	0.217	0.26145	T	0.492	0.37115	P	0.216	0.37572	B	0.001843	0.37840	N	0.346719	0.984838	0.24765	N	2.52	0.73523	M	1.6	0.28604	T	-1.75	0.42763	N	0.391	0.47857	-1.0321	0.19777	T	0.074	0.29992	T	10	0.0062645376	0.00141	T	0.017028	0.38558	T	0.089	0.25827	.	.	0.250512400709	0.24649	0.4659477433860269	0.46513	0.15301633933	0.17264	0.393102139235	0.24105	T	0.038092	0.24717	T	-0.501754	0.00559	T	-0.498438	0.22511	T	0.00930295737957474	0.00118	T	0.854015	0.53996	D	0.092062406	0.21589	0.091627955	0.21553	0.092062406	0.21589	0.091627955	0.21552	-4.932	0.36159	T	.	.	0.121	0.25133	B	.;.	.;.	1.843294	0.23417	16.01	0.97014184658083036	0.31997	0.95707	0.65813	D	AEFBHCI	0.169830	0.29670	N	-0.358791350501746	0.26951	1.474874	-0.346722897383323	0.26611	1.470982	0.874893757824793	0.25494	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.99	3.05	0.34272	1.113000	0.30798	0.292000	0.16883	-0.313000	0.06017	0.824000	0.30046	0.014000	0.20376	0.994000	0.71098	0.0:0.5264:0.2599:0.2137	5.820	0.17778	383	0.83590	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.020202	0.005435	0.008772	0.000000	0.000000	0.003049	0.003788	0.02632	1390.33	33	chr2	99405959	.	C	A	1390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.424;DP=685;ExcessHet=0;FS=3.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.82;ReadPosRankSum=1.44;SOR=0.371	GT:AD:DP:GQ:PL	0/1:23,55:78:99:1404,0,481	18	0	1	0
chr2	102176724	102176724	A	-	exonic	IL1R1	.	frameshift deletion	IL1R1:NM_001320983:exon10:c.1243delA:p.K415Nfs*21,IL1R1:NM_001320984:exon10:c.1126delA:p.K376Nfs*21,IL1R1:NM_001320985:exon10:c.970delA:p.K324Nfs*21,IL1R1:NM_000877:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001288706:exon12:c.1582delA:p.K528Nfs*21,IL1R1:NM_001320978:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320980:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320981:exon12:c.1675delA:p.K559Nfs*21,IL1R1:NM_001320982:exon12:c.1675delA:p.K559Nfs*21	.	420	1098	4	0	0	4	0.00181818	.	.	.	719167	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0033	0.0002	0.0002	0.0001	0	0	0.0033	0.0236	0.0001537	4	26028	rs376163784	0.0014	0.0014	0.0008	0.0019	0.0219	0.0013	0.0013	0.0210	0.0207	0	0.0002	0	2.519e-05	0	0.0007	5.396e-06	0.0015	0.0219	0.0009	0.0009	0.0004	0.0014	0.0251	0.0008	0.0007	0.0214	0.0201	9.625e-05	0	0.0007	0	0	0	0	2.94e-05	0	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05263	2224.79	33	chr2	102176723	.	GA	G	2224.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.01;DP=794;ExcessHet=0.119;FS=1.934;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.238;SOR=0.871	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1312,0,1237	17	0	2	0
chr2	105097231	105097231	G	A	exonic	MRPS9	.	nonsynonymous SNV	MRPS9:NM_182640:exon10:c.G1006A:p.G336R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.33039705811	0.0013	0.000599042	0.0014	0.0003	0.0006	0	0.0002	0.0024	0	0	0.0014748	228	154602	rs145751106	0.0017	0.0017	0.0016	0.0017	0.0020	0.0016	0.0016	0.0020	0.0019	0.0003	0.0005	3.831e-05	0	0.0003	0.0003	0.0020	0.0013	0.0003	0.0010	0.0010	0.0011	0.0008	0.0019	0.0009	0.0008	0.0017	0.0016	0.0003	0	0.0003	0	0	0.0003	0	0.0019	0	0.0002	0.0	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	4.515	0.99023	H	-2.44	0.88767	D	-7.11	0.93999	D	0.846	0.84194	1.067	0.98512	D	0.906	0.96885	D	10	0.30035305	0.47582	T	0.330397	0.91734	D	0.889	0.96799	0.882	0.96934	0.968432832994	0.96809	0.9183686540628835	0.91812	0.737164365154	0.63037	0.654929459095	0.60686	T	0.475195	0.80634	T	0.165622	0.70720	D	0.46145	0.93839	D	0.461686551570892	0.31227	T	0.967103	0.88031	D	0.8911107	0.90603	0.84781885	0.91358	0.8911107	0.90604	0.84781885	0.91358	-10.194	0.75064	D	.	.	0.744	0.74782	P	.	.	5.375302	0.90099	31	0.99919861857242886	0.98654	0.99022	0.90087	D	AEFGBI	0.917843	0.88604	D	1.0670190272009	0.97473	16.18936	0.949689325897937	0.97394	16.05641	0.999981807426184	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.04	0.67293	9.356000	0.96506	11.858000	0.98250	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0683:0.0:0.9317:0.0	14.971	0.70887	912	0.21483	Ribosomal protein S9, 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	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	2071.33	33	chr2	105097231	.	G	A	2071.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.452;DP=726;ExcessHet=0;FS=1.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.11;ReadPosRankSum=0.04;SOR=0.86	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,56:103:99:0|1:105097231_G_A:2085,0,1771:105097231	18	0	1	0
chr2	106468221	106468221	C	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon1:c.G68C:p.R23P	.	5	1502	15	0	0	15	0.00496853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0009	0.0167732	0.0148	0.0005	0.0012	0.0337	0	0.0005	0.0090	0.0759	0.0085898	1328	154602	rs114641853	0.0048	0.0049	0.0033	0.0064	0.0591	0.0047	0.0047	0.0577	0.0571	0.0002	0.0004	0	0.0299	0	0.0015	0.0005	0.0047	0.0591	0.0030	0.0030	0.0019	0.0041	0.0630	0.0027	0.0027	0.0571	0.0549	0.0002	0	0.0003	0	0.0191	0	0.0034	0.0004	0.0024	0.0630	0.037	0.43085	D	0.058	0.46406	T	0.989	0.62824	D	0.859	0.61184	P	.	.	.	.	0.998387	0.22188	N	2.125	0.59049	M	1.0	0.41392	T	-3.28	0.65627	D	0.515	0.54584	-1.0598	0.11805	T	0.079	0.31314	T	9	0.0034672916	0.00061	T	.	.	.	0.084	0.24469	.	.	0.159798565429	0.15598	0.0477392602249862	0.04716	.	.	0.801177322865	0.82142	T	0.043613	0.26557	T	-0.458615	0.01003	T	-0.387523	0.34843	T	0.0518186714386404	0.05817	T	0.676832	0.28555	T	0.35388973	0.57368	0.45053053	0.68024	0.35388973	0.57368	0.45053053	0.68025	-3.311	0.13879	T	.	.	0.199	0.50898	B	.;.	.;.	2.480057	0.31981	18.90	0.58543926219636166	0.06017	0.19323	0.20616	N	AEFDI	0.117440	0.23006	N	-0.227247272579008	0.32020	1.801393	-0.442561024818947	0.23760	1.29745	3.42504440729709E-5	0.03775	0.615465	0.37627	0	0.550933	0.16991	0	0.489635	0.07774	0	0.655142	0.61905	0	.	.	1.8	1.8	0.24069	1.807000	0.38540	7.136000	0.57639	0.265000	0.18437	0.947000	0.32937	1.000000	0.68203	0.050000	0.15192	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007634	0.000000	0.000000	0.008333	0.000000	0.000000	0.000000	0.046512	0.02632	1053.33	37	chr2	106468221	.	C	G	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.15;DP=803;ExcessHet=0;FS=7.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=0.756;QD=8.1;ReadPosRankSum=0.051;SOR=1.325	GT:AD:DP:GQ:PL	0/1:84,46:130:99:1067,0,1897	18	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,91:179:99:.:.:3562,0,3409:.	6	3	9	1
chr2	134987734	134987734	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T799C:p.Y267H,MAP3K19:NM_001321177:exon7:c.T1189C:p.Y397H,MAP3K19:NM_025052:exon7:c.T1138C:p.Y380H	.	427	1047	47	1	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0028	0.00998403	0.0087	0.0006	0.0037	0	0.0012	0.0045	0.0144	0.0416	0.0080594	1246	154602	rs140022497	0.0057	0.0057	0.0044	0.0071	0.0431	0.0056	0.0056	0.0420	0.0415	0.0006	0.0039	0.0036	7.559e-05	0.0011	0.0232	0.0034	0.0063	0.0431	0.0035	0.0035	0.0033	0.0037	0.0327	0.0033	0.0032	0.0286	0.0270	0.0007	0.0011	0.0036	0.0035	0.0006	0.0017	0.0068	0.0035	0.0066	0.0327	0.286	0.17069	T	0.431	0.14679	T	0.003	0.12183	B	0.002	0.10090	B	0.634177	0.05830	N	1.238580	1	0.08975	N	1.445	0.36358	L	-0.42	0.69536	T	-0.97	0.25770	N	0.077	0.05162	-1.0393	0.17526	T	0.104	0.38144	T	10	0.0024988353	0.00038	T	.	.	.	0.019	0.03383	.	.	0.511735687887	0.50815	0.050829714466138445	0.05024	0.14687753787	0.16573	0.226953357458	0.01750	T	0.002246	0.01642	T	-0.573549	0.00211	T	-0.565224	0.15890	T	0.000890545815876997	0.00008	T	0.509849	0.16238	T	0.040088873	0.05657	0.03199676	0.01869	0.040088873	0.05657	0.03199676	0.01869	-3.157	0.13126	T	.	.	0.090	0.24498	B	.;.;.;.	.;.;.;.	-0.279728	0.02708	0.354	0.4493988042106678	0.03491	0.05265	0.11104	N	AEFBI	0.103133	0.20671	N	-1.21234015646499	0.04819	0.2183486	-1.23364004326654	0.05378	0.2560778	6.0288634170171E-4	0.07437	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.87	-0.821	0.10276	-0.684000	0.05275	0.377000	0.17739	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2463:0.4496:0.1853:0.1188	2.434	0.04205	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.005051	0.029891	0.026316	0.000000	0.017241	0.033537	0.015152	0.07895	5683.77	40	chr2	134987734	.	A	G	5683.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.736;DP=1318;ExcessHet=0;FS=1.068;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=-0.14;SOR=0.598	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3843,339,0	17	1	1	0
chr2	135641766	135641766	A	G	exonic	R3HDM1	.	nonsynonymous SNV	R3HDM1:NM_001282800:exon12:c.A1282G:p.S428G,R3HDM1:NM_001282798:exon15:c.A1450G:p.S484G,R3HDM1:NM_001354199:exon15:c.A1450G:p.S484G,R3HDM1:NM_001354200:exon15:c.A1450G:p.S484G,R3HDM1:NM_001378107:exon15:c.A1450G:p.S484G,R3HDM1:NM_015361:exon15:c.A1450G:p.S484G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0338406920794	.	.	5.795e-05	0	8.657e-05	0	0	4.514e-05	0	0.0002	4.53e-05	7	154602	rs557924039	4.447e-05	4.446e-05	3.676e-05	5.226e-05	0.0005	3.575e-05	3.257e-05	0.0002	0.0001	0	2.238e-05	0	0	0	0.0005	3.418e-05	1.656e-05	0.0003	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.004	0.65419	D	0.036	0.53072	D	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.077143	0.999996	0.81001	D	2.69	0.78713	M	0.11	0.61208	T	-2.58	0.55662	D	0.905	0.91047	-0.3628	0.73180	T	0.374	0.73227	T	10	0.77145123	0.77116	D	0.033841	0.55262	D	0.410	0.72176	.	.	0.744421343069	0.74212	0.8505030545118412	0.85012	0.84474731915	0.68233	0.714083433151	0.69185	T	0.255114	0.62586	T	0.0871186	0.62864	D	0.19334	0.82758	D	0.464778363704681	0.31340	T	0.914509	0.79272	D	0.5180993	0.68150	0.42964923	0.66640	0.5180993	0.68151	0.42964923	0.66640	-10.148	0.75811	D	.	.	0.332	0.69354	B	.;.;.	.;.;.	4.755808	0.76843	26.6	0.99849750049048813	0.92925	0.97918	0.78116	D	AEFBHCI	0.909572	0.86638	D	0.808655969174022	0.86645	8.952165	0.803181342205511	0.90013	10.21857	0.999989058155495	0.51787	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.7	5.7	0.88690	9.215000	0.94270	11.086000	0.85840	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.975	0.79840	359	0.84979	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3156.81	44	chr2	135641766	.	A	G	3156.81	.	AC=2;AF=0.053;AN=38;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.88;SOR=2.254	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3184,288,0	18	1	0	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	0/1:115,32:147:99:.:.:274,0,4049:.	12	0	6	1
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	0/1:24,12:41:19:19,0,300	12	0	3	4
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:120,46:166:27:27,0,2569	8	0	9	2
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.1053	3819.41	41	chr2	157799450	.	G	C	3819.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.235;DP=846;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-1.396;SOR=0.665	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2221,231,0	16	1	2	0
chr2	158662984	158662984	G	A	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon14:c.G2299A:p.E767K,PKP4:NM_001304969:exon14:c.G2296A:p.E766K,PKP4:NM_001304970:exon14:c.G1270A:p.E424K,PKP4:NM_001304971:exon14:c.G2299A:p.E767K,PKP4:NM_001377218:exon14:c.G2299A:p.E767K,PKP4:NM_001377219:exon14:c.G2296A:p.E766K,PKP4:NM_001377222:exon14:c.G2293A:p.E765K,PKP4:NM_001377223:exon14:c.G2293A:p.E765K,PKP4:NM_001377224:exon14:c.G2290A:p.E764K,PKP4:NM_001377225:exon14:c.G2299A:p.E767K,PKP4:NM_001377226:exon14:c.G2296A:p.E766K,PKP4:NM_003628:exon14:c.G2299A:p.E767K,PKP4:NM_001377220:exon15:c.G2296A:p.E766K,PKP4:NM_001377221:exon15:c.G2296A:p.E766K	.	.	.	.	.	.	.	.	.	.	.	1850880	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.564	0.0922048362961	0.0002	0.000199681	6.601e-05	0	0	0.0001	0	9.007e-05	0.0011	0	5.82e-05	9	154602	rs145132821	8.209e-05	8.209e-05	8.44e-05	7.976e-05	8.544e-05	7.002e-05	6.552e-05	7.135e-05	6.626e-05	5.974e-05	2.236e-05	0.0005	2.519e-05	0	0	8.544e-05	0.0001	0	8.544e-05	8.531e-05	7.715e-05	9.411e-05	0.0002	4.959e-05	3.964e-05	3.246e-05	1.912e-05	9.637e-05	0	0	0.0014	0.0002	0	0	4.412e-05	0	0	0.022	0.49613	D	0.054	0.49120	T	0.999	0.77913	D	0.87	0.61806	P	0.000013	0.62929	D	0.112090	1	0.81001	D	2.155	0.60227	M	-1.78	0.83737	D	-2.25	0.50337	N	0.839	0.83473	0.319	0.87861	D	0.641	0.87454	D	10	0.55679953	0.64563	D	0.092205	0.75849	D	0.564	0.82175	.	.	0.868592361541	0.86731	0.7081992436231779	0.70761	0.389420141229	0.40185	0.813383281231	0.84012	D	0.08753	0.58480	T	0.116813	0.66050	D	0.134568	0.79190	D	0.20302602648735	0.20581	T	0.983102	0.94506	D	0.21819709	0.44321	0.23631509	0.48899	0.21819709	0.44321	0.23631509	0.48898	-12.222	0.85916	D	.	.	0.265	0.63914	B	.;.;.	.;.;.	4.893486	0.80360	27.3	0.99935727356195192	0.99579	0.99455	0.96243	D	AEFDBI	0.921198	0.89430	D	0.60373551007317	0.73409	5.961662	0.605873239123616	0.75364	6.297776	0.999999999999987	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.739000	0.83905	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.091	0.97819	797	0.45241	.;.;.	.	.	.	.	.	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	5169.81	35	chr2	158662984	.	G	A	5169.81	.	AC=2;AF=0.053;AN=38;DP=819;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=0.995	GT:AD:DP:GQ:PL	1/1:0,164:164:99:5197,492,0	18	1	0	0
chr2	159219340	159219340	G	C	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon18:c.G2878C:p.V960L,TANC1:NM_001350063:exon19:c.G3112C:p.V1038L,TANC1:NM_001145909:exon21:c.G3457C:p.V1153L,TANC1:NM_001350064:exon21:c.G3460C:p.V1154L,TANC1:NM_033394:exon21:c.G3481C:p.V1161L,TANC1:NM_001350065:exon22:c.G3460C:p.V1154L	.	.	.	.	.	.	.	.	.	.	.	2197254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.437	0.052258766431	.	.	2.484e-05	0	0	0.0001	0	0	0.0011	6.056e-05	1.94e-05	3	154602	rs375860483	2.121e-05	2.121e-05	1.77e-05	2.475e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0001	0	0	0	0.0003	0	0	3.597e-06	3.311e-05	0.0002	1.977e-05	1.97e-05	1.288e-05	2.699e-05	0.0002	5.26e-06	2.46e-06	.	.	0	0	0	0	0.0002	9.452e-05	0	1.474e-05	0	0	0.124	0.27426	T	0.221	0.25827	T	0.149	0.27956	B	0.102	0.30857	B	0.000003	0.62929	D	0.060077	1	0.81001	D	1.76	0.45711	L	-0.45	0.69896	T	-1.83	0.42957	N	0.784	0.78072	-0.2411	0.76597	T	0.433	0.77407	T	10	0.62863636	0.68388	D	0.052259	0.64996	D	0.437	0.74164	0.585	0.71245	0.681180290059	0.67846	0.5769769153119664	0.57626	0.420287518812	0.42557	0.656648695469	0.60930	T	0.206238	0.56553	T	0.0147451	0.53670	T	0.0478322	0.73440	D	0.303819212332143	0.25161	T	0.975102	0.91204	D	0.3283369	0.55334	0.27812198	0.53771	0.3283369	0.55334	0.27812198	0.53770	-8.882	0.66933	D	.	.	0.378	0.58298	A	.	.	4.555246	0.71734	25.7	0.99502358493110599	0.68089	0.99286	0.93967	D	AEFBI	0.924452	0.90251	D	0.517454198340813	0.68122	5.173955	0.596330252305967	0.74675	6.177748	0.999999999999994	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.667671	0.60360	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	10.003000	0.99689	9.996000	0.83014	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.000	0.92809	649	0.63102	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	.	.	.	.	.	.	.	.	0.05263	4135.81	35	chr2	159219340	.	G	C	4135.81	.	AC=2;AF=0.053;AN=38;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.1;SOR=1.455	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4163,399,0	18	1	0	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	5487.41	34	chr2	162268086	.	C	T	5487.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.4;DP=842;ExcessHet=0.0101;FS=6.684;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=19.25;ReadPosRankSum=-0.309;SOR=1.099	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2710,243,0	16	1	2	0
chr2	169157430	169157430	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11960C:p.F3987S	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.122439220717	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs61995919	2.186e-06	0.0002	4.374e-06	0	2.902e-06	5.8e-07	1.6e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.902e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.0	0.92824	D	0.99	0.63424	D	0.743	0.55802	P	0.000002	0.62929	D	0.102964	1	0.81001	D	2.74	0.80084	M	-1.79	0.83815	D	-5.18	0.83557	D	0.93	0.93487	-0.0371	0.81481	T	0.497	0.80946	T	10	0.8600701	0.85222	D	0.122439	0.80341	D	0.820	0.94238	0.665	0.80300	0.61012745286	0.60699	0.9427786389111651	0.94258	2.20355478117	0.95687	0.612346053123	0.54648	T	0.344936	0.71339	T	0.305724	0.83417	D	0.201375	0.83202	D	0.992530286312103	0.83038	D	0.530047	0.17581	T	0.5582403	0.70412	0.71140873	0.82975	0.5582403	0.70413	0.71140873	0.82976	-6.333	0.48983	T	.	.	0.965	0.88693	P	.;.	.;.	4.115159	0.61465	24.3	0.99863933463691823	0.94184	0.99146	0.91905	D	AEFBI	0.876095	0.79991	D	0.536490062201209	0.69265	5.332245	0.591566982345825	0.74334	6.11932	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	384.75	25	chr2	169157430	.	A	G	384.75	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.96;DP=647;ExcessHet=0.8031;FS=212.143;InbreedingCoeff=-0.3376;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.25;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,4:37:34:0|1:169157429_A_G:34,0,1344:169157429	6	0	2	11
chr2	169157431	169157431	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11959C:p.F3987L	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0361222483026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.753e-05	0.0022	0.0001	8.903e-05	0.0001	8.287e-05	7.743e-05	9.794e-05	9.145e-05	3.557e-05	0	0	5.575e-05	0.0001	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.084	0.41239	T	0.043	0.21573	B	0.014	0.16862	B	0.000002	0.62929	D	0.102964	0.999998	0.58761	D	2.045	0.56016	M	-1.73	0.83327	D	-4.13	0.75139	D	0.626	0.64052	-0.5484	0.66847	T	0.351	0.71502	T	10	0.30924746	0.48413	T	0.036122	0.56792	D	0.338	0.66010	0.459	0.52590	0.505559545342	0.50193	0.8869475601486423	0.88663	0.901021167792	0.70643	0.635681688786	0.57951	T	0.353004	0.72036	T	0.0596301	0.59566	T	-0.152122	0.59056	T	0.97569864988327	0.71047	D	0.750125	0.37153	T	0.4331667	0.62959	0.4349336	0.66996	0.4331667	0.62959	0.4349336	0.66996	-5.635	0.43111	T	.	.	0.985	0.92330	P	.;.	.;.	3.238651	0.44194	21.9	0.99575746748544613	0.72682	0.96519	0.69544	D	AEFBI	0.619425	0.60486	D	-0.0799446757033397	0.38272	2.239039	0.131085804566848	0.46146	2.865539	0.990828206028358	0.32281	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	5.781000	0.68615	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	379.9	25	chr2	169157431	.	A	G	379.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.99;DP=638;ExcessHet=0.8031;FS=208.14;InbreedingCoeff=-0.3712;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.25;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,4:37:34:0|1:169157429_A_G:34,0,1344:169157429	5	0	2	12
chr2	169157433	169157433	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11957C:p.G3986A	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.0741312127491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0047	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0004	0	0.0001	7.766e-05	0	0	0.0004	0.0001	9.746e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.054	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.65	0.82625	D	-4.04	0.74427	D	0.875	0.87265	0.185	0.85659	D	0.622	0.86676	D	10	0.8524667	0.84430	D	0.074131	0.71964	D	0.685	0.88490	0.577	0.70217	0.675757427234	0.67301	0.9174403899428152	0.91719	1.7735257329	0.91315	0.485903203487	0.36872	T	0.317913	0.68933	T	0.272253	0.80643	D	0.153296	0.80392	D	0.991292774677277	0.81572	D	0.875412	0.58680	D	0.4754566	0.65624	0.43292475	0.66862	0.4754566	0.65624	0.43292475	0.66862	-8.734	0.65968	D	.	.	0.383	0.58622	A	.;.	.;.	3.800135	0.54746	23.5	0.99552602734415152	0.71211	0.98963	0.89243	D	AEFBI	0.809705	0.73314	D	0.664427782730604	0.77307	6.649371	0.686270369385145	0.81334	7.502817	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	4.890000	0.45755	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	378.84	20	chr2	169157433	.	C	G	378.84	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.256;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3508;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,3:35:30:0|1:169157429_A_G:30,0,1335:169157429	3	0	2	14
chr2	169157434	169157434	C	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11956C:p.G3986R	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.799	0.118172883463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.487e-05	0.0016	4.341e-05	4.634e-05	6.271e-05	3.572e-05	3.242e-05	4.378e-05	4.003e-05	6.271e-05	0	0	0	0	0	5.582e-05	3.463e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-1.66	0.82715	D	-5.59	0.86527	D	0.964	0.97426	0.301	0.87568	D	0.629	0.86968	D	10	0.890576	0.88398	D	0.118173	0.79815	D	0.799	0.93425	0.638	0.77470	0.80244631523	0.80060	0.9574406042201115	0.95729	1.86679822297	0.92466	0.568949699402	0.48529	T	0.474796	0.80610	T	0.414005	0.90700	D	0.356913	0.90584	D	0.996428310871124	0.89318	D	0.959004	0.84537	D	0.72273713	0.79314	0.6796857	0.81181	0.72273713	0.79316	0.6796857	0.81182	-7.652	0.58673	D	.	.	0.773	0.76054	P	.;.	.;.	4.159784	0.62465	24.5	0.99916567827365443	0.98449	0.98963	0.89243	D	AEFBI	0.835750	0.75361	D	0.685555810397683	0.78685	6.921854	0.701553584419606	0.82495	7.781566	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.428000	0.79479	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	377.35	20	chr2	169157434	.	C	G	377.35	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=553;ExcessHet=0.8031;FS=206.681;InbreedingCoeff=-0.3298;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.19;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,3:35:30:0|1:169157429_A_G:30,0,1335:169157429	4	0	2	13
chr2	176107582	176107587	GCGGCG	-	exonic	HOXD11	.	nonframeshift deletion	HOXD11:NM_021192:exon1:c.227_232del:p.G81_G82del	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0011	0.0001164	18	154602	rs762528392	9.828e-05	0.0002	8.013e-05	0.0001	0.0012	8.413e-05	7.884e-05	0.0010	0.0009	0	0	0	0	0	0	4.765e-05	0.0001	0.0012	6.019e-05	5.921e-05	2.613e-05	9.592e-05	0.0013	3.127e-05	2.246e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.463e-05	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3222.77	39	chr2	176107581	.	CGCGGCG	C	3222.77	.	AC=2;AF=0.053;AN=38;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.95;SOR=3.383	GT:AD:DP:GQ:PL	1/1:0,74:74:99:3250,226,0	18	1	0	0
chr2	185804598	185804598	A	G	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A15292G:p.I5098V	.	435	1058	27	2	0	31	0.0144388	.	.	.	3210115	FSIP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.011	.	.	0.00658946	0.0162	0	0.0053	0	0.0013	0.0026	0.0269	0.0287	0.0023221	359	154602	rs116029352	0.0052	0.0049	0.0044	0.0059	0.0277	0.0051	0.0050	0.0267	0.0263	0.0005	0.0023	0.0006	2.802e-05	0.0024	0.0070	0.0041	0.0050	0.0277	0.0037	0.0037	0.0034	0.0040	0.0301	0.0035	0.0034	0.0261	0.0246	0.0010	0	0.0013	0.0012	0.0002	0.0021	0.0136	0.0047	0.0043	0.0301	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.1	0.00987	N	1.1	0.39050	T	0.18	0.05035	N	0.012	0.00125	-0.9963	0.30946	T	0.026	0.11043	T	7	0.0035538077	0.00064	T	.	.	.	0.011	0.01250	.	.	.	.	0.030669484624268203	0.03015	.	.	0.262273460627	0.05164	T	0.001205	0.00701	T	-0.727779	0.00025	T	-0.797908	0.01955	T	0.00868098556356589	0.00107	T	0.328467	0.06836	T	0.020307582	0.00585	0.041548263	0.04748	0.020307582	0.00584	0.041548263	0.04748	-4.119	0.25569	T	.	.	0.068	0.02861	B	.	.	-1.214428	0.00516	0.012	0.39593560357966201	0.02741	0.00227	0.01275	N	AEFI	.	.	.	-1.67149918017404	0.00948	0.04105339	-1.71557173476285	0.01070	0.0480477	8.30265016546679E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	-3.6	0.04277	-0.099000	0.10976	-0.220000	0.10772	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1283:0.1287:0.743:0.0	12.856	0.57271	735	0.53711	Fibrous sheath-interacting protein 2, C-terminal|Fibrous sheath-interacting protein 2, 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	1	0	0.002577	0.000000	0.007246	0.000000	0.000000	0.000000	0.005682	0.000000	0.05263	4964.81	68	chr2	185804598	.	A	G	4964.81	.	AC=2;AF=0.053;AN=38;DP=1755;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.09;SOR=0.948	GT:AD:DP:GQ:PL	1/1:0,165:165:99:4992,495,0	18	1	0	0
chr2	186504214	186504214	G	C	exonic	ZC3H15	.	nonsynonymous SNV	ZC3H15:NM_018471:exon6:c.G717C:p.E239D	.	.	.	.	.	.	.	.	1.0000	0.966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.022	0.57587	D	0.935	0.52277	P	0.411	0.44827	B	0.000000	0.84330	D	0.046544	1	0.81001	D	3.38	0.91446	M	1.06	0.39781	T	-2.56	0.55339	D	0.807	0.80278	-0.3719	0.72903	T	0.219	0.58163	T	10	0.61418194	0.67612	D	0.057279	0.66910	D	0.340	0.66202	0.447	0.50629	0.176862962021	0.17281	0.8371508936038035	0.83675	1.25842597875	0.81969	0.810016155243	0.83495	D	0.52783	0.83605	D	0.134539	0.67800	D	-0.0445212	0.67395	D	0.981274902820587	0.73818	D	0.933007	0.74900	D	0.71572834	0.78924	0.6211325	0.77928	0.71572834	0.78926	0.6211325	0.77929	-8.983	0.67588	D	.	.	0.981	0.91303	P	.	.	6.609620	0.95479	35	0.9976274900218054	0.85172	0.98083	0.79454	D	ALL	0.857353	0.77471	D	0.686265938508068	0.78731	6.931324	0.660652857345304	0.79405	7.075772	1.0	0.98316	0.743674	0.98306	0	0.779548	0.99637	0	0.630245	0.45026	0	0.636	0.56748	0	.	.	5.2	5.2	0.71720	6.745000	0.74658	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.112	0.93305	410	0.82135	ZC3H15/TMA46 family, 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	.	.	.	.	.	.	.	.	0.05	46.32	37	chr2	186504214	.	G	C	46.32	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.933;DP=870;ExcessHet=0;FS=27.45;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=1.86;SOR=4.546	GT:AD:DP:GQ:PL	0/1:20,10:30:55:55,0,498	9	0	1	9
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,7:30:20:.:.:20,0,548:.	6	0	11	2
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	0/1:33,29:62:99:.:.:328,0,554:.	1	0	17	1
chr2	230996243	230996243	G	C	exonic	SPATA3	.	nonsynonymous SNV	SPATA3:NM_139073:exon1:c.G10C:p.V4L	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00363599915461	0.0004	.	0.0002	0	0	0	0	0.0004	0	0.0001	5.17e-05	8	154602	rs367718469	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	0	8.432e-05	3.982e-05	0	2.032e-05	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0.0002	7.118e-05	5.77e-05	0.0001	9.922e-05	4.843e-05	0	0	0	0	0	0	0.0002	0	0.0002	0.202	0.20230	T	0.231	0.25670	T	.	.	.	.	.	.	0.573976	0.11210	N	0.724708	0.502834	0.31755	D	0.695	0.17993	N	.	.	.	-1.45	0.35597	N	0.079	0.15187	-0.9020	0.47782	T	0.115	0.40853	T	7	0.07166505	0.10596	T	0.003636	0.08340	T	0.089	0.25827	.	.	0.201204373187	0.19734	0.08290281177807934	0.08225	.	.	0.394769817591	0.24340	T	0.00412	0.03532	T	-0.423236	0.01632	T	-0.549534	0.17370	T	0.123570643365383	0.14776	T	0.525647	0.17608	T	0.12940696	0.30225	0.14315352	0.34031	0.12940696	0.30225	0.14315352	0.34030	-2.61	0.06580	T	.	.	0.543	0.68391	A	.;.;.;.;.	.;.;.;.;.	2.224933	0.28394	17.78	0.99526420824270012	0.69591	0.88935	0.49110	D	AEFDBI	0.352871	0.44548	N	0.0291678673271057	0.43184	2.616438	0.0565020498278843	0.42386	2.562897	0.999957600431202	0.48110	0.497415	0.19182	0	0.563428	0.19063	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.85	3.85	0.43556	2.378000	0.43964	5.552000	0.48896	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:0.0:1.0:0.0	11.569	0.50076	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2883.33	48	chr2	230996243	.	G	C	2883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.497;DP=1144;ExcessHet=0;FS=3.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.575;SOR=0.46	GT:AD:DP:GQ:PL	0/1:77,108:185:99:2897,0,1956	18	0	1	0
chr2	231108575	231108575	G	A	exonic	HTR2B	.	nonsynonymous SNV	HTR2B:NM_000867:exon4:c.C1388T:p.T463M,HTR2B:NM_001320758:exon4:c.C1262T:p.T421M	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0635161757872	0.0002	.	0.0002	0.0002	0	0	0	3.014e-05	0	0.0011	0.0001423	22	154602	rs150480687	8.484e-05	8.482e-05	4.085e-05	0.0001	0.0011	7.21e-05	6.798e-05	0.0009	0.0009	0	0	3.827e-05	5.044e-05	3.746e-05	0.0002	1.889e-05	3.312e-05	0.0011	5.917e-05	5.911e-05	8.997e-05	2.692e-05	0.0001	3.079e-05	2.211e-05	4.741e-05	3.054e-05	0.0001	0	0	0	0	9.445e-05	0	4.41e-05	0	0	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-0.05	0.63403	T	-1.09	0.28290	N	0.657	0.66700	-0.2269	0.76969	T	0.439	0.77777	T	10	0.46060538	0.59260	T	0.063516	0.68991	D	0.221	0.51721	.	.	0.953414758104	0.95291	0.65367113882847	0.65303	0.619759957096	0.56315	0.625450074673	0.56500	T	0.108363	0.42134	T	-0.105254	0.35553	T	0.0255931	0.71992	D	0.150209207389785	0.17120	T	0.943106	0.78551	D	0.37610415	0.59033	0.597928	0.76650	0.37610415	0.59033	0.597928	0.76651	-6.043	0.46637	T	.	.	0.113	0.22171	B	.	.	4.716812	0.75825	26.4	0.99887992671217762	0.96281	0.98591	0.84452	D	AEFGBI	0.811386	0.73438	D	0.824214947209428	0.87595	9.272828	0.824142718106639	0.91421	10.87733	0.999999999676357	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	5.9	5.9	0.94952	6.454000	0.73411	5.243000	0.48069	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.279	0.98503	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	825.33	33	chr2	231108575	.	G	A	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=671;ExcessHet=0;FS=2.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.888;SOR=1.263	GT:AD:DP:GQ:PL	0/1:20,31:51:99:839,0,455	18	0	1	0
chr2	233448335	233448335	C	T	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon12:c.C1175T:p.T392M,DGKD:NM_003648:exon13:c.C1442T:p.T481M,DGKD:NM_152879:exon14:c.C1574T:p.T525M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0158290347627	7.7e-05	.	5.794e-05	0	0	0.0002	0	4.519e-05	0	0.0001	4.53e-05	7	154602	rs149840484	1.505e-05	1.505e-05	1.361e-05	1.65e-05	0.0001	9.85e-06	8.41e-06	3.348e-05	1.981e-05	0	2.236e-05	0	0.0001	0	0	9.892e-06	1.656e-05	5.797e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.046	0.41364	D	0.163	0.31225	T	0.318	0.32936	B	0.042	0.24114	B	0.004302	0.33881	N	0.289012	0.998969	0.21756	N	1.125	0.28843	L	-1.2	0.80125	T	-1.85	0.43334	N	0.423	0.46274	-0.7602	0.57394	T	0.262	0.63274	T	10	0.13871536	0.26379	T	0.015829	0.36777	T	0.313	0.63482	.	.	0.858660360297	0.85729	0.14619007944041568	0.14541	0.532937180173	0.50740	0.507709920406	0.39903	T	0.21052	0.57104	T	-0.149277	0.28426	T	-0.187774	0.55798	T	0.05534848602436	0.06416	T	.	.	.	0.04023359	0.05706	0.075141005	0.16512	0.04023359	0.05706	0.075141005	0.16511	-10.593	0.77380	D	.	.	0.093	0.19720	B	.;.	.;.	3.105420	0.41865	21.4	0.99033656441222617	0.50851	0.68268	0.33738	D	AEFDBHCI	0.133035	0.25255	N	-0.144085103294285	0.35487	2.038964	0.00983964969697571	0.40171	2.393152	0.999999976234422	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	4.44	4.44	0.53164	1.636000	0.36758	4.817000	0.45088	0.596000	0.33519	0.529000	0.27181	0.997000	0.33255	0.890000	0.42831	0.0:0.9156:0.0:0.0844	11.189	0.47898	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	547.33	33	chr2	233448335	.	C	T	547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.298;DP=696;ExcessHet=0;FS=3.655;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=1.43;SOR=0.351	GT:AD:DP:GQ:PL	0/1:35,31:66:99:561,0,816	18	0	1	0
chr2	233511792	233511792	C	T	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001382298:exon18:c.G2170A:p.D724N,USP40:NM_001365479:exon20:c.G2443A:p.D815N,USP40:NM_001382295:exon20:c.G2443A:p.D815N,USP40:NM_001382296:exon20:c.G2443A:p.D815N,USP40:NM_001382297:exon20:c.G2443A:p.D815N,USP40:NM_001382299:exon20:c.G2287A:p.D763N,USP40:NM_001382300:exon20:c.G2443A:p.D815N,USP40:NM_001382301:exon20:c.G2443A:p.D815N,USP40:NM_018218:exon20:c.G2440A:p.D814N	.	.	.	.	.	.	.	.	.	.	.	3623072	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0331708558507	.	0.000399361	0.0002	0	0	0	0	0	0	0.0016	0.0001423	22	154602	rs576476551	8.468e-05	8.756e-05	2.737e-05	0.0001	0.0014	7.25e-05	6.694e-05	0.0012	0.0011	0	0	0	0	0	0	0	8.331e-05	0.0014	7.888e-05	7.877e-05	3.859e-05	0.0001	0.0025	4.498e-05	3.513e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.008	0.58626	D	0.009	0.66756	D	0.96	0.55278	D	0.623	0.51505	P	0.745798	0.06455	N	1.139100	1	0.81001	D	2.52	0.73523	M	0.82	0.48142	T	-2.01	0.46337	N	0.133	0.32481	-0.7663	0.57060	T	0.218	0.57994	T	10	0.01328063	0.00282	T	0.033171	0.54790	D	0.188	0.46444	0.313	0.28774	0.67158868663	0.66881	0.33942877418541373	0.33855	0.24754003639	0.27304	0.467417746782	0.34326	T	0.018753	0.15062	T	-0.518123	0.00451	T	-0.547104	0.17605	T	0.246971833266943	0.22737	T	0.946405	0.79487	D	0.12681405	0.29692	0.10207263	0.24454	0.12681405	0.29692	0.10207263	0.24454	-5.83	0.45401	T	.	.	0.35	0.56573	A	.;.;.	.;.;.	4.498984	0.70345	25.5	0.99871032722561615	0.94902	0.91379	0.53415	D	AEFBI	0.447904	0.50336	N	0.375071117545853	0.60073	4.192505	0.352617370069487	0.58664	4.038434	0.999977921248042	0.50053	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.85	4.85	0.62375	4.583000	0.60675	7.481000	0.59259	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.688000	0.33778	0.0:1.0:0.0:0.0	15.284	0.73518	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	939.33	33	chr2	233511792	.	C	T	939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.288;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.256;SOR=0.776	GT:AD:DP:GQ:PL	0/1:50,39:89:99:953,0,1258	18	0	1	0
chr2	238161621	238161621	G	T	exonic	ERFE	.	nonsynonymous SNV	ERFE:NM_001291832:exon2:c.G226T:p.V76F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00289964474509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.59	0.08217	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-2.13	0.48354	N	0.11	0.09631	-1.0010	0.29631	T	0.059	0.24686	T	5	0.07129055	0.10488	T	0.003	0.06133	T	0.051	0.14325	0.101	0.01536	0.0611884634855	0.05136	0.174198146402236	0.17338	.	.	.	.	.	0.009703	0.08820	T	-0.256817	0.13276	T	-0.606676	0.12257	T	0.0769643162966993	0.09594	T	0.354665	0.08016	T	0.047345825	0.08078	0.094944604	0.22495	0.047345825	0.08078	0.094944604	0.22494	-5.952	0.45876	T	.	.	0.148	0.32756	B	.	.	-0.887184	0.00947	0.037	0.95485612825030108	0.27054	0.04881	0.10624	N	AEFDBCI	0.069128	0.13668	N	-1.10086819959311	0.06628	0.305669	-1.29676803121982	0.04475	0.2111348	0.999725372846737	0.42220	0.514905	0.20481	0	0.578056	0.33634	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.4	-3.91	0.03892	-0.396000	0.07338	-2.611000	0.03550	-1.764000	0.00673	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.524:0.1418:0.1943:0.14	1.43	0.02191	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1259.33	33	chr2	238161621	.	G	T	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.192;DP=737;ExcessHet=0;FS=1.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.075;SOR=0.478	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1273,0,1004	18	0	1	0
chr2	241326003	241326003	C	A	exonic	SEPTIN2	.	nonsynonymous SNV	SEPTIN2:NM_001321032:exon3:c.C20A:p.T7N,SEPTIN2:NM_001349288:exon3:c.C20A:p.T7N,SEPTIN2:NM_001349290:exon3:c.C20A:p.T7N,SEPTIN2:NM_001349302:exon3:c.C20A:p.T7N,SEPTIN2:NM_004404:exon3:c.C20A:p.T7N,SEPTIN2:NM_006155:exon3:c.C20A:p.T7N,SEPTIN2:NM_001008491:exon4:c.C20A:p.T7N,SEPTIN2:NM_001008492:exon4:c.C20A:p.T7N,SEPTIN2:NM_001282972:exon4:c.C125A:p.T42N,SEPTIN2:NM_001321029:exon4:c.C110A:p.T37N,SEPTIN2:NM_001321030:exon4:c.C20A:p.T7N,SEPTIN2:NM_001321035:exon4:c.C20A:p.T7N,SEPTIN2:NM_001349287:exon4:c.C185A:p.T62N,SEPTIN2:NM_001349289:exon4:c.C20A:p.T7N,SEPTIN2:NM_001349291:exon4:c.C20A:p.T7N,SEPTIN2:NM_001321031:exon5:c.C20A:p.T7N,SEPTIN2:NM_001321033:exon5:c.C20A:p.T7N,SEPTIN2:NM_001321034:exon5:c.C20A:p.T7N,SEPTIN2:NM_001282973:exon6:c.C20A:p.T7N	.	440	1081	0	1	0	2	0.000924214	.	.	.	2731502	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0162922461467	7.7e-05	.	3.326e-05	0	8.691e-05	0	0	4.532e-05	0	0	2.59e-05	4	154602	rs374059214	2.808e-05	2.805e-05	2.589e-05	3.029e-05	0.0005	2.089e-05	1.88e-05	0.0001	7.555e-05	0	2.247e-05	0	0	0	0.0005	2.07e-05	9.945e-05	9.32e-05	3.286e-05	3.283e-05	5.14e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.158	0.25154	T	0.314	0.92824	T	0.309	0.32767	B	0.035	0.30479	B	0.087379	0.20537	N	0.554130	0.862842	0.81001	D	0.695	0.17993	N	0.69	0.64445	T	-0.53	0.75375	N	0.169	0.18103	-0.9126	0.46531	T	0.109	0.39439	T	10	0.14417681	0.27365	T	0.016292	0.37474	T	0.107	0.30369	.	.	0.487287018651	0.48362	0.47808324717026585	0.47728	0.820147628991	0.67127	0.411530196667	0.26669	T	0.103217	0.41167	T	-0.219967	0.17996	T	-0.371597	0.36702	T	0.0574198391825674	0.06757	T	0.788921	0.46599	T	0.08383279	0.19376	0.10847716	0.26130	0.08383279	0.19376	0.10847716	0.26130	-3.497	0.17987	T	.	.	0.068	0.07793	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.005522	0.40175	21.1	0.98132493433132373	0.38530	0.99138	0.91786	D	AEFBI	0.852688	0.76960	D	-0.075960258871649	0.38449	2.252099	0.187389539944584	0.49154	3.122161	0.999999999992236	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	3.899000	0.56000	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.567	0.99354	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	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1123.33	33	chr2	241326003	.	C	A	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=726;ExcessHet=0;FS=5.331;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-3.399;SOR=1.267	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1137,0,994	18	0	1	0
chr3	9818911	9818911	G	A	exonic	TTLL3	.	nonsynonymous SNV	TTLL3:NM_001025930:exon6:c.G949A:p.E317K,TTLL3:NM_001366051:exon6:c.G520A:p.E174K	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00279553	0.0011	0	0	0.0134	0	2.997e-05	0	0.0007	0.0009961	154	154602	rs3806669	0.0004	0.0004	0.0004	0.0004	0.0101	0.0003	0.0003	0.0093	0.0089	0	0	0	0.0101	0	0	1.978e-05	0.0006	0.0007	0.0004	0.0004	0.0003	0.0006	0.0110	0.0003	0.0003	0.0087	0.0079	0	0	0	0	0.0110	0	0	1.47e-05	0	0.0015	0.131	0.91255	T	0.293	0.47336	T	.	.	.	.	.	.	0.726335	0.06343	U	1.223630	0.999998	0.18878	N	.	.	.	3.6	0.38556	T	-1.79	0.46146	N	0.173	0.18512	-1.0446	0.15942	T	0.042	0.18076	T	8	0.0046506226	0.00097	T	.	.	.	0.081	0.23632	.	.	0.276482976112	0.27267	0.22829360660721013	0.22744	0.107180644816	0.12099	0.349036425352	0.17780	T	.	.	.	-0.425122	0.01587	T	-0.372403	0.36609	T	0.0147678354706328	0.00309	T	0.605339	0.23564	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.12891	B	.;.;.	.;.;.	1.884712	0.23939	16.21	0.81104994901555372	0.13522	0.08569	0.14480	N	AEFDBCI	0.069355	0.13724	N	-0.42565107285734	0.24573	1.327771	-0.548776560924038	0.20839	1.124565	0.748089451487472	0.23316	0.706548	0.73137	0	0.643519	0.57511	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	4.71	1.87	0.24559	1.865000	0.39117	1.954000	0.29902	0.618000	0.50648	0.024000	0.20007	0.029000	0.21193	0.025000	0.12405	0.3208:0.0:0.6792:0.0	6.221	0.19895	481	0.77356	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1478.33	37	chr3	9818911	.	G	A	1478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.158;DP=823;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.491;SOR=0.688	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1492,0,1283	18	0	1	0
chr3	10292862	10292862	C	T	exonic	GHRL	.	nonsynonymous SNV	GHRL:NM_001134944:exon1:c.G52A:p.G18R,GHRL:NM_001134945:exon1:c.G52A:p.G18R,GHRL:NM_001134946:exon1:c.G52A:p.G18R	.	414	1106	2	0	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0044	0.00259585	0.0019	0	0.0025	0	0	0.0043	0.0041	0.0003	0.0013066	202	154602	rs139684563	0.0068	0.0065	0.0070	0.0065	0.0082	0.0066	0.0066	0.0080	0.0080	0.0013	0.0032	0.0018	0.0007	0.0014	0.0007	0.0082	0.0051	0.0007	0.0041	0.0041	0.0045	0.0037	0.0066	0.0038	0.0037	0.0061	0.0059	0.0016	0	0.0052	0.0017	0	0.0011	0	0.0066	0.0028	0.0008	0.073	0.91255	T	0.111	0.92824	T	0.882	0.55854	P	0.232	0.38314	B	.	.	.	.	1	0.19599	N	.	.	.	1.49	0.58029	T	-0.55	0.96495	N	0.291	0.32921	-1.0257	0.21853	T	0.042	0.17952	T	8	0.004208863	0.00084	T	.	.	.	0.030	0.07022	0.376	0.38994	0.154104182512	0.14974	.	.	.	.	0.377694875002	0.21929	T	.	.	.	-0.547393	0.00302	T	-0.549674	0.17358	T	0.000341636018590249	0.00003	T	0.510149	0.18565	T	.	.	.	.	.	.	.	.	-3.379	0.18248	T	.	.	0.090	0.37746	B	.;.;.;.	.;.;.;.	0.744202	0.11139	7.780	0.85790405032500527	0.16114	0.02450	0.06893	N	ALL	0.049011	0.08423	N	-0.773305719593918	0.14008	0.6943929	-0.971571712933078	0.10427	0.5250817	0.999999999996331	0.74766	0.559995	0.30671	0	0.484254	0.07192	0	0.536957	0.11973	0	0.550183	0.17644	0	.	.	3.3	-1.38	0.08554	0.372000	0.20199	0.185000	0.15676	-0.376000	0.05418	0.006000	0.17386	0.101000	0.22673	0.022000	0.11911	0.1235:0.3858:0.3134:0.1773	2.188	0.03655	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	0	0	0	1	0	0	0	0.001225	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1255.33	35	chr3	10292862	.	C	T	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.988;SOR=0.666	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1269,0,1405	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|1:171,50:221:99:0|1:15003967_C_G:356,0,4928:15003967	8	0	11	0
chr3	33826615	33826615	T	G	exonic	PDCD6IP	.	nonsynonymous SNV	PDCD6IP:NM_001256192:exon6:c.T752G:p.L251W	.	459	1043	16	4	0	24	0.0113744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00738818	0.0063	0.0007	0.0026	0	0.0008	0.0048	0.0064	0.0232	0.0050452	780	154602	rs111356602	0.0047	0.0048	0.0043	0.0051	0.0185	0.0046	0.0046	0.0177	0.0174	0.0005	0.0029	0.0139	7.589e-05	0.0007	0.0049	0.0039	0.0050	0.0185	0.0039	0.0039	0.0039	0.0039	0.0226	0.0036	0.0035	0.0191	0.0179	0.0008	0.0033	0.0038	0.0159	0	0.0008	0	0.0047	0.0019	0.0226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3890.77	37	chr3	33826615	.	T	G	3890.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.259;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.965;SOR=0.637	GT:AD:DP:GQ:PL	1/1:0,97:97:99:2741,291,0	17	1	1	0
chr3	38120523	38120523	G	A	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon34:c.G4789A:p.V1597M,DLEC1:NM_007335:exon34:c.G4780A:p.V1594M,DLEC1:NM_007337:exon34:c.G4780A:p.V1594M	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0404350498867	.	0.000599042	0.0002	0	0	0	0	0	0	0.0012	0.0001423	22	154602	rs577919194	5.336e-05	5.336e-05	2.178e-05	8.525e-05	0.0009	4.344e-05	4.017e-05	0.0007	0.0007	0	0	0	0	0	0	8.993e-07	3.311e-05	0.0009	4.595e-05	4.593e-05	1.285e-05	8.053e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.986	0.76916	D	0.000158	0.49130	D	0.080319	0.988034	0.40692	D	2.78	0.81115	M	0.19	0.60236	T	-1.55	0.38924	N	0.156	0.16168	-0.3011	0.74955	T	0.354	0.71743	T	10	0.027414978	0.00888	T	0.040435	0.59376	D	0.183	0.45592	.	.	0.702187695337	0.69960	0.31824630668429765	0.31737	0.522871762998	0.50003	0.425403207541	0.28580	T	0.083478	0.37062	T	-0.233022	0.16250	T	-0.185484	0.56012	T	0.790798008441925	0.45742	D	0.837116	0.52040	T	0.16061541	0.36015	0.2759728	0.53538	0.16061541	0.36014	0.2759728	0.53537	-4.948	0.36270	T	.	.	0.130	0.27880	B	.;.	.;.	3.884535	0.56480	23.7	0.99883790878076428	0.95970	0.83922	0.43012	D	AEFBCI	0.382787	0.46454	N	0.643870616740781	0.75972	6.401488	0.595209376272867	0.74593	6.163932	0.947360421965286	0.27749	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	2.702000	0.46770	6.510000	0.55805	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:0.1352:0.7068:0.1579	10.285	0.42742	553	0.71930	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2289.81	33	chr3	38120523	.	G	A	2289.81	.	AC=2;AF=0.053;AN=38;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.8;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2317,216,0	18	1	0	0
chr3	42686231	42686231	G	T	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon1:c.G613T:p.G205C	Nemaline myopathy 8, autosomal recessive	.	.	.	.	.	.	.	.	.	.	631411	Nemaline_myopathy_8	MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.432	0.424512133408	.	.	0.0004	0	0	0	0	0	0	0.0016	0.0001682	26	154602	rs746095931	9.839e-05	0.0001	6.339e-05	0.0001	0.0016	8.477e-05	7.973e-05	0.0014	0.0013	3.101e-05	0	0	0	0	0	9.224e-07	8.614e-05	0.0016	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.041	0.41915	D	0.154	0.32040	T	1.0	0.90584	D	0.99	0.78936	D	0.000416	0.44736	D	0.226754	0.955064	0.37907	D	0.69	0.16971	N	-0.6	0.71662	T	-0.81	0.22294	N	0.414	0.45426	-0.1660	0.78525	T	0.420	0.76570	T	10	0.13030007	0.24798	T	0.424512	0.93860	D	0.432	0.73807	0.592	0.72123	0.774958753016	0.77289	0.5501635544450104	0.54942	1.72006505206	0.90558	0.583057761192	0.50516	T	0.091722	0.38854	T	-0.315621	0.07263	T	-0.245158	0.50292	T	0.212696206987846	0.21093	T	0.707729	0.31835	T	0.23965622	0.46858	0.18899539	0.42220	0.2485431	0.47842	0.21478732	0.46041	-6.056	0.46745	T	.	.	0.196	0.41828	B	.	.	5.184566	0.86933	29.1	0.99615012507238321	0.75052	0.98665	0.85319	D	AEFDBI	0.835097	0.75305	D	0.325033376072643	0.57437	3.910923	0.266753280506642	0.53608	3.528955	0.999999987041243	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.56	3.67	0.41236	4.892000	0.62883	7.384000	0.58471	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.1974:0.8026:0.0	10.450	0.43704	358	0.85037	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	0.002546	0.000000	0.002725	0.000000	0.000000	0.000000	0.006289	0.003846	0.05263	2668.81	36	chr3	42686231	.	G	T	2668.81	.	AC=2;AF=0.053;AN=38;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.78;SOR=1.207	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2696,236,0	18	1	0	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	51.69	33	chr3	48174283	.	C	G	51.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.121;DP=1411;ExcessHet=0.3672;FS=127.421;InbreedingCoeff=-0.0885;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.679;SOR=10.408	GT:AD:DP:GQ:PL	0/1:70,24:94:25:25,0,1390	16	0	3	0
chr3	48419726	48419726	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon11:c.G2560A:p.E854K,PLXNB1:NM_002673:exon11:c.G2560A:p.E854K	.	392	1109	21	0	0	21	0.00937919	.	.	.	3221104	PLXNB1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.098	.	0.0002	0.00199681	0.0020	0	0.0005	0	0	0.0004	0.0016	0.0118	0.0014101	218	154602	rs151201859	0.0008	0.0008	0.0005	0.0011	0.0106	0.0008	0.0008	0.0100	0.0098	5.978e-05	0.0001	0.0023	5.044e-05	0	0.0031	0.0001	0.0011	0.0106	0.0006	0.0006	0.0004	0.0009	0.0151	0.0005	0.0005	0.0123	0.0113	4.81e-05	0	0.0003	0.0014	0	0	0.0034	0.0001	0	0.0151	0.012	0.54683	D	0.77	0.04477	T	0.985	0.61118	D	0.41	0.44785	B	0.045398	0.23542	N	0.381504	0.718221	0.81001	D	1.04	0.26193	L	4.02	0.03178	T	-1.2	0.30555	N	0.339	0.38027	-0.6722	0.61729	T	0.006	0.02093	T	10	0.007759124	0.00176	T	.	.	.	0.098	0.28162	.	.	0.409337501531	0.40548	0.438695224230036	0.43786	0.249944974402	0.27571	0.542636275291	0.44818	T	0.089664	0.38421	T	-0.476921	0.00771	T	-0.448445	0.27868	T	0.0410106461134325	0.03874	T	0.753825	0.37593	T	0.12798642	0.29934	0.1042639	0.25038	0.12798642	0.29934	0.1042639	0.25037	-6.449	0.49891	T	.	.	0.063	0.02145	B	.;.	.;.	3.124665	0.42199	21.5	0.99816810544598378	0.89973	0.84705	0.43792	D	AEFDBCI	0.404312	0.47765	N	-0.173397769430185	0.34246	1.952329	-0.104883513123654	0.35193	2.033184	0.999520058267335	0.40175	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.56	2.76	0.31527	2.387000	0.44043	3.215000	0.36822	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.998000	0.85391	0.0:0.8113:0.0:0.1887	8.067	0.29826	15	0.98792	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001515	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	3208.81	34	chr3	48419726	.	C	T	3208.81	.	AC=2;AF=0.053;AN=38;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.56;SOR=0.751	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3236,315,0	18	1	0	0
chr3	48536296	48536296	C	T	exonic	PFKFB4	.	nonsynonymous SNV	PFKFB4:NM_001317135:exon8:c.G800A:p.R267Q,PFKFB4:NM_001317136:exon8:c.G767A:p.R256Q,PFKFB4:NM_001317137:exon8:c.G800A:p.R267Q,PFKFB4:NM_004567:exon8:c.G800A:p.R267Q,PFKFB4:NM_001317134:exon9:c.G887A:p.R296Q,PFKFB4:NM_001317138:exon9:c.G227A:p.R76Q	.	428	1092	2	0	0	2	0.000914913	.	.	.	2674264	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.689	0.167241551126	.	0.000199681	6.614e-05	0.0002	0	0	0	0	0	0.0004	5.82e-05	9	154602	rs550543115	3.762e-05	3.762e-05	1.361e-05	6.188e-05	0.0005	2.96e-05	2.656e-05	0.0003	0.0003	8.961e-05	6.708e-05	0	5.038e-05	0	0	4.497e-06	3.312e-05	0.0005	4.595e-05	4.593e-05	3.854e-05	5.37e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	7.214e-05	0	0	0	0	0	0	0	0	0.0008	0.117	0.29420	T	0.101	0.38742	T	0.994	0.66517	D	0.677	0.53365	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.85	0.82803	M	-0.78	0.73631	T	-2.69	0.58407	D	0.724	0.72567	0.092	0.84029	D	0.499	0.81077	T	10	0.44740045	0.58483	T	0.167242	0.84565	D	0.689	0.88679	.	.	0.840687982487	0.83916	0.6911691836858521	0.69056	1.3244401102	0.83517	0.703263282776	0.67616	T	0.310902	0.68283	T	0.000279433	0.51693	T	0.0988842	0.76834	D	0.530173420906067	0.33740	D	0.929107	0.73907	D	0.2829164	0.51326	0.22049524	0.46827	0.2829164	0.51326	0.22049524	0.46826	-3.357	0.14484	T	.	.	0.150	0.35034	B	.;.;.;.	.;.;.;.	5.305668	0.89070	29.8	0.99925432078489418	0.99042	0.91615	0.53899	D	AEFGBI	0.620901	0.60579	D	0.439014007978603	0.63583	4.59479	0.368198554088759	0.59612	4.140485	0.99999983589873	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.43	3.55	0.39770	4.047000	0.57095	4.884000	0.45695	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.990000	0.65344	0.0:0.9055:0.0:0.0945	10.624	0.44686	14	0.98855	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	3488.81	33	chr3	48536296	.	C	T	3488.81	.	AC=2;AF=0.053;AN=38;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.43;SOR=1.241	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3516,332,0	18	1	0	0
chr3	48645117	48645117	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7890A:p.M2630I	.	415	1027	71	9	0	89	0.0415306	.	.	.	48715	Variant_of_unknown_significance|not_provided	MedGen:C2986382|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0009	0.00319489	0.0044	0.0002	0.0027	0	0.0002	0.0026	0.0084	0.0197	0.0036869	570	154602	rs149614835	0.0024	0.0025	0.0019	0.0030	0.0382	0.0024	0.0024	0.0341	0.0325	0.0009	0.0017	0.0094	5.072e-05	0.0003	0.0382	0.0011	0.0040	0.0181	0.0018	0.0018	0.0015	0.0020	0.0190	0.0016	0.0015	0.0159	0.0147	0.0003	0	0.0020	0.0098	0	0.0002	0.0170	0.0013	0.0024	0.0190	0.006	0.61437	D	0.005	0.72224	D	0.987	0.61912	D	0.908	0.64494	P	.	.	.	.	1	0.81001	D	2.13	0.59329	M	1.29	0.35775	T	-3.59	0.69236	D	0.812	0.80767	-0.6440	0.62974	T	0.226	0.59007	T	9	0.011453748	0.00250	T	.	.	.	0.393	0.70844	0.547	0.66156	0.808317247251	0.80651	0.8152272965699411	0.81478	0.981655826999	0.73759	0.719656050205	0.69997	T	0.370865	0.73533	T	-0.112624	0.34336	T	0.0810421	0.75648	D	0.0384281591043975	0.03409	T	0.772323	0.40326	T	0.5032531	0.67286	0.45666093	0.68420	0.5032531	0.67287	0.45666093	0.68420	-10.2	0.75100	D	.	.	0.409	0.60090	A	.	.	4.422272	0.68507	25.2	0.99749842171488468	0.84152	0.98385	0.82238	D	AEFBI	0.885987	0.81699	D	0.678335262368401	0.78214	6.826448	0.68768746655041	0.81442	7.527931	0.999999999992481	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.24	5.24	0.72863	7.541000	0.81014	2.197000	0.31255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.828	0.92093	4	0.99387	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.015152	0.020436	0.058480	0.050000	0.025862	0.018293	0.015267	0.05263	3090.81	33	chr3	48645117	.	C	T	3090.81	.	AC=2;AF=0.053;AN=38;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.01;SOR=1.125	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3118,309,0	18	1	0	0
chr3	49357420	49357420	C	T	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon2:c.G442A:p.A148T	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	1	1480	41	0	0	41	0.0136621	.	.	.	3206544	GPX1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0078	0.0125799	0.0041	0.0323	0.0018	0	0	0.0008	0.0023	0.0075	0.0039133	605	154602	rs6446261	0.0018	0.0018	0.0017	0.0018	0.0328	0.0017	0.0017	0.0311	0.0305	0.0328	0.0027	0.0039	5.041e-05	0	0.0090	0.0003	0.0035	0.0075	0.0096	0.0097	0.0095	0.0098	0.0320	0.0092	0.0091	0.0306	0.0300	0.0320	0	0.0028	0.0035	0	0	0.0102	0.0004	0.0081	0.0079	0.581	0.05973	T	0.516	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.050785	0.23039	N	0.475441	1	0.81001	D	1.29	0.32370	L	3.7	0.04079	T	-0.44	0.14588	N	0.122	0.11340	-0.9341	0.43530	T	0.003	0.00994	T	10	0.0057239234	0.00127	T	.	.	.	0.036	0.09122	.	.	0.310458034454	0.30648	.	.	0.625492213557	0.56726	0.266051054001	0.05632	T	0.046592	0.27470	T	-0.64502	0.00078	T	-0.675618	0.07253	T	0.00226996346110567	0.00024	T	0.460354	0.25495	T	0.036734007	0.04575	0.030052433	0.01414	0.036734007	0.04575	0.030052433	0.01413	.	.	.	.	.	0.088	0.13268	B	.;.;.	.;.;.	2.313638	0.29619	18.18	0.91150700794935624	0.20404	0.68796	0.33938	D	AEFGBCI	0.286005	0.39849	N	-0.459519707602378	0.23419	1.257467	-0.361417653601922	0.26157	1.443024	0.99999992207612	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	5.1	3.28	0.36691	0.873000	0.27702	2.188000	0.31185	0.596000	0.33519	0.954000	0.33273	0.999000	0.35428	0.731000	0.35132	0.1517:0.6012:0.0:0.2471	4.660	0.12023	1	0.99630	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.010171	0.010417	0.014986	0.008264	0.050000	0.025862	0.003145	0.007692	0.05263	1764.81	61	chr3	49357420	.	C	T	1764.81	.	AC=2;AF=0.053;AN=38;DP=806;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=46.08;QD=32.09;SOR=1.739	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1792,165,0	18	1	0	0
chr3	49358265	49358265	C	G	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon1:c.G14C:p.R5P	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	2	1481	39	0	0	39	0.0129957	.	.	.	3217126	GPX1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.043	.	.	0.0125799	0.0059	0.0383	0	0	0	0.0015	0	0.0047	0.0012484	193	154602	rs8179169	0.0017	0.0017	0.0016	0.0018	0.0329	0.0016	0.0016	0.0313	0.0306	0.0329	0.0029	0.0041	5.632e-05	0	0.0047	0.0003	0.0036	0.0075	0.0097	0.0097	0.0095	0.0098	0.0321	0.0093	0.0091	0.0306	0.0301	0.0321	0	0.0028	0.0035	0	0	0.0102	0.0004	0.0080	0.0079	0.056	0.53900	T	0.062	0.45318	T	0.0	0.02946	B	0.0	0.01387	B	0.973120	0.07792	N	1.021110	1	0.08975	N	0.55	0.14455	N	4.07	0.12988	T	-0.98	0.29525	N	0.1	0.40063	-0.9659	0.38033	T	0.017	0.06807	T	10	0.0021373928	0.00031	T	.	.	.	0.043	0.11576	.	.	0.43656330218	0.43278	.	.	0.930252368807	0.71791	0.628332972527	0.56908	T	0.041852	0.25994	T	-0.600678	0.00144	T	-0.612612	0.11774	T	0.0213533665627042	0.00838	T	0.422258	0.11242	T	0.20519191	0.42654	0.19333829	0.42897	0.20519191	0.42654	0.19333829	0.42896	.	.	.	.	.	0.077	0.11701	B	.;.;.;.	.;.;.;.	0.471235	0.08407	5.163	0.9515917842168633	0.26303	0.05059	0.10849	N	AEFGBHCIJ	.	.	.	-1.18523976353331	0.05223	0.237591	-1.2369128723785	0.05328	0.2535777	0.999999999999359	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.75	-5.29	0.02535	-0.629000	0.05605	-1.318000	0.05730	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.594000	0.31239	0.2114:0.2629:0.2908:0.2349	0.981	0.01346	1	0.99630	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009732	0.018293	0.013793	0.013605	0.000000	0.032609	0.003846	0.000000	0.05263	4722.81	80	chr3	49358265	.	C	G	4722.81	.	AC=2;AF=0.053;AN=38;DP=1221;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=53.66;QD=30.28;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,112:112:99:1|1:49358240_GGCCGCC_G:4750,337,0:49358240	18	1	0	0
chr3	49663442	49663442	C	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon7:c.C11284A:p.P3762T	.	420	1078	24	0	0	24	0.0110092	.	.	.	2827428	not_provided|BSN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.0108063378822	0.0002	0.000798722	0.0012	0	0.0003	0	0	0.0004	0.0023	0.0066	0.0010026	155	154602	rs144229405	0.0006	0.0006	0.0005	0.0008	0.0067	0.0006	0.0006	0.0063	0.0061	0	0.0002	0.0023	5.038e-05	0	0.0019	0.0002	0.0007	0.0067	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0046	0.0040	2.404e-05	0	0.0005	0.0014	0	0	0.0034	0.0002	0	0.0064	0.015	0.52492	D	0.06	0.45744	T	0.079	0.24468	B	0.095	0.30245	B	0.017031	0.27826	N	0.326424	1	0.08975	N	1.87	0.49600	L	2.29	0.17113	T	-1.58	0.38151	N	0.268	0.30347	-1.0552	0.12987	T	0.050	0.21182	T	10	0.0037391782	0.00069	T	0.010806	0.27768	T	0.066	0.19193	.	.	0.226560886239	0.22246	0.09192954584532985	0.09125	0.308978366714	0.33215	0.343515455723	0.16964	T	0.225006	0.58962	T	-0.558339	0.00260	T	-0.570927	0.15365	T	0.0306765184533137	0.02094	T	0.731327	0.34690	T	0.13208981	0.30767	0.108388096	0.26108	0.13208981	0.30767	0.108388096	0.26107	-3.832	0.21283	T	.	.	0.062	0.01309	B	.	.	2.739040	0.35869	20.1	0.7998964767988519	0.12993	0.74041	0.36216	D	AEFDGBI	0.354905	0.44682	N	-0.273314751723846	0.30181	1.680581	-0.219681796617042	0.30831	1.739349	0.999999987122754	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	3.791000	0.55173	2.663000	0.33894	0.599000	0.40250	0.515000	0.27072	0.083000	0.22416	0.994000	0.71098	0.0:1.0:0.0:0.0	17.099	0.86520	1	0.99630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.007576	0.05263	4507.81	37	chr3	49663442	.	C	A	4507.81	.	AC=2;AF=0.053;AN=38;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.43;SOR=1.237	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4535,417,0	18	1	0	0
chr3	49674589	49674589	A	G	exonic	APEH	.	nonsynonymous SNV	APEH:NM_001640:exon2:c.A113G:p.Q38R	.	425	1073	24	0	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0105875124332	0.0002	0.000798722	0.0022	0	0.0011	0	0	0.0006	0.0034	0.0081	0.000925	143	154602	rs373871160	0.0007	0.0007	0.0005	0.0008	0.0069	0.0006	0.0006	0.0064	0.0062	2.997e-05	0.0002	0.0023	5.132e-05	0	0.0022	0.0002	0.0008	0.0069	0.0004	0.0004	0.0003	0.0006	0.0072	0.0003	0.0003	0.0054	0.0047	2.404e-05	0	0.0005	0.0014	0	0	0.0034	0.0002	0	0.0072	0.214	0.20002	T	0.39	0.15746	T	0.026	0.19406	B	0.007	0.12992	B	0.000166	0.48594	D	0.184382	0.859709	0.35366	D	0.6	0.15550	N	0.95	0.43279	T	-0.68	0.23156	N	0.433	0.48042	-1.0567	0.12595	T	0.044	0.19111	T	10	0.0069631636	0.00158	T	0.010588	0.27302	T	0.123	0.34020	.	.	0.56205713848	0.55868	0.4088749442169822	0.40803	0.326912076486	0.34833	0.654809296131	0.60669	T	0.248251	0.61802	T	-0.419043	0.01734	T	-0.370838	0.36791	T	0.0676119346168108	0.08312	T	0.840116	0.52137	T	0.25801915	0.48849	0.31162238	0.57168	0.25801915	0.48849	0.31162238	0.57167	-1.76	0.02392	T	.	.	0.085	0.12655	B	.;.;.	.;.;.	4.853973	0.79367	27.1	0.9004736317270754	0.19334	0.76614	0.37589	D	ALL	0.546461	0.56055	D	-0.421080291024909	0.24731	1.33748	-0.203554513993897	0.31407	1.77722	0.999999999978632	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.94	3.76	0.42368	5.050000	0.64066	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8577:0.0:0.0:0.1423	10.777	0.45553	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002575	0.000000	0.000000	0.000000	0.000000	0.025862	0.006369	0.007576	0.05263	1577.81	34	chr3	49674589	.	A	G	1577.81	.	AC=2;AF=0.053;AN=38;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.56;SOR=0.952	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1605,150,0	18	1	0	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	162.83	60	chr3	49685734	.	T	G	162.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.085;DP=1616;ExcessHet=0.119;FS=21.115;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-15.36;QD=0.3;ReadPosRankSum=-1.936;SOR=3.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,21:252:99:0|1:49685734_T_G:133,0,9534:49685734	17	0	2	0
chr3	52491908	52491908	G	T	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon21:c.G3941T:p.R1314L	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0249423898914	.	.	0.0004	0	0.0003	0	0	6.123e-05	0.0012	0.0024	0.0002652	41	154602	rs201606509	0.0001	0.0001	8.726e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0.0002	0	0	0.0005	1.531e-05	0.0002	0.0021	0.0001	0.0001	8.993e-05	0.0001	0.0015	6.506e-05	5.318e-05	0.0007	0.0005	0	0	0	0.0009	0	0	0.0102	2.94e-05	0.0005	0.0015	0.002	0.72154	D	0.001	0.83351	D	0.998	0.73220	D	0.891	0.63213	P	0.000001	0.84330	D	0.051757	0.999043	0.45943	D	1.65	0.42232	L	3.03	0.08898	T	-3.35	0.66436	D	0.487	0.52119	-1.1698	0.00543	T	0.045	0.19316	T	10	0.028581738	0.00989	T	0.024942	0.47924	T	0.184	0.45763	0.423	0.46693	0.134007934775	0.12933	0.6280868978715021	0.62741	1.35666730936	0.84197	0.372727304697	0.21222	T	0.354904	0.72199	T	-0.388089	0.02767	T	-0.335477	0.40855	T	0.144151980956503	0.16628	T	0.928207	0.73493	D	0.4698201	0.65279	0.45103255	0.68057	0.4698201	0.65279	0.45103255	0.68058	-11.341	0.81495	D	.	.	0.492	0.64210	A	.;.	.;.	3.415274	0.47393	22.4	0.99849000023292678	0.92838	0.88735	0.48806	D	AEFGBCI	0.754095	0.69408	D	0.503013882806651	0.67266	5.058982	0.536712055303781	0.70478	5.511224	0.999999998671246	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.6	5.6	0.84997	2.831000	0.47845	7.558000	0.60417	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	19.611	0.95600	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.015152	0.05263	5124.81	39	chr3	52491908	.	G	T	5124.81	.	AC=2;AF=0.053;AN=38;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.23;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,159:159:99:5152,477,0	18	1	0	0
chr3	69009776	69009776	G	C	exonic	EOGT	.	nonsynonymous SNV	EOGT:NM_001278689:exon4:c.C71G:p.P24R,EOGT:NM_173654:exon4:c.C71G:p.P24R	Adams-Oliver syndrome 4, Autosomal recessive	432	1068	21	1	0	23	0.0106531	.	.	.	709030	Adams-Oliver_syndrome_4|not_provided	MONDO:MONDO:0014124,MedGen:C3809092,OMIM:615297,Orphanet:974|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0005	0.00459265	0.0033	0.0002	0.0005	0.0001	0	0.0007	0.0033	0.0209	0.0028978	448	154602	rs140016031	0.0016	0.0016	0.0010	0.0022	0.0203	0.0016	0.0015	0.0195	0.0192	5.974e-05	0.0005	0.0081	0	0	0.0036	0.0002	0.0025	0.0203	0.0011	0.0011	0.0008	0.0014	0.0223	0.0009	0.0009	0.0188	0.0176	2.409e-05	0	0.0004	0.0072	0	0	0	0.0003	0.0009	0.0223	0.109	0.29288	T	0.231	0.43721	T	0.09	0.25173	B	0.047	0.24832	B	0.166091	0.17514	N	0.576273	1	0.19599	N	1.59	0.40313	L	.	.	.	-0.01	0.15782	N	0.165	0.17966	-1.0243	0.22311	T	0.067	0.27674	T	9	0.0032445192	0.00055	T	.	.	.	0.032	0.07718	.	.	0.112648838833	0.10856	0.4196951627285961	0.41885	0.20632500761	0.23060	0.255860716105	0.04410	T	0.011635	0.21883	T	-0.475384	0.00788	T	-0.438713	0.28954	T	0.0180658668688304	0.00529	T	0.513449	0.16474	T	0.023744848	0.01140	0.041926388	0.04877	0.015647365	0.00150	0.037156157	0.03309	-3.107	0.11551	T	.	.	0.068	0.04723	B	.;.;.;.;.;.	.;.;.;.;.;.	0.959404	0.13359	9.863	0.86468746231025351	0.16556	0.34701	0.25129	N	ALL	0.287777	0.39984	N	-0.761114436584886	0.14333	0.7131189	-0.772692625488729	0.15166	0.7962486	0.999999999379872	0.74766	0.714207	0.82060	0	0.546412	0.12157	0	0.648423	0.49468	0	0.616919	0.45865	0	.	.	5.01	1.83	0.24279	2.483000	0.44891	1.590000	0.27524	0.618000	0.50648	0.078000	0.22289	0.007000	0.19602	0.002000	0.04165	0.1478:0.0:0.7212:0.131	8.794	0.34027	604	0.67577	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.018939	0.02632	784.33	33	chr3	69009776	.	G	C	784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.451;DP=697;ExcessHet=0;FS=2.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.957;SOR=1.093	GT:AD:DP:GQ:PL	0/1:24,35:59:99:798,0,620	18	0	1	0
chr3	70972152	70972152	T	C	exonic	FOXP1	.	nonsynonymous SNV	FOXP1:NM_001244810:exon18:c.A1559G:p.H520R	Mental retardation with language impairment and with or without autistic features, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	363694	FOXP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0091853	0.0018	0	0.0167	0.0354	0	0.0015	0.0152	0.0003	0.0008215	127	154602	rs76145927	0.0023	0.0022	0.0024	0.0023	0.0561	0.0023	0.0022	0.0540	0.0532	0.0004	0.0098	0.0017	0.0561	0.0120	0.0009	0.0002	0.0033	0.0004	0.0035	0.0035	0.0027	0.0043	0.0398	0.0032	0.0032	0.0354	0.0336	0.0006	0	0.0056	0.0009	0.0398	0.0162	0	0.0005	0.0033	0.0004	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.954	0.96302	.	.	.	.	.	.	.	0.009577841	0.00216	T	.	.	.	.	.	.	.	0.805881646239	0.80406	0.9195165937247104	0.91927	.	.	.	.	.	.	.	.	0.110814	0.65437	D	0.448089	0.93529	D	.	.	.	0.964304	0.86758	D	.	.	.	.	.	.	.	.	-9.855	0.73039	D	.	.	0.999	0.98631	P	.;.	.;.	2.099985	0.26722	17.22	0.96490831351314887	0.30005	0.98453	0.82934	D	AEFBI	0.876408	0.80040	D	.	.	.	.	.	.	0.999999999998693	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.756000	0.84058	3.551000	0.39048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.576	0.84532	665	0.61472	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	354.33	33	chr3	70972152	.	T	C	354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.982;DP=676;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=0.96;SOR=0.676	GT:AD:DP:GQ:PL	0/1:31,19:50:99:368,0,848	18	0	1	0
chr3	72997044	72997044	G	A	exonic	PPP4R2	.	nonsynonymous SNV	PPP4R2:NM_001318025:exon1:c.G7A:p.V3I,PPP4R2:NM_001318028:exon1:c.G7A:p.V3I,PPP4R2:NM_174907:exon1:c.G7A:p.V3I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0656075599681	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs750748054	1.832e-05	4.104e-05	1.094e-05	2.599e-05	0.0002	1.22e-05	1.019e-05	8.979e-05	6.8e-05	0	0	0	0	0	0.0002	1.104e-05	1.981e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675	0.09486	T	1.0	0.12072	T	0.023	0.18885	B	0.008	0.13708	B	0.000185	0.48115	D	0.140163	0.749135	0.81001	D	-0.02	0.05091	N	1.09	0.39223	T	0.11	0.05706	N	0.067	0.13198	-1.0316	0.19937	T	0.037	0.15856	T	10	0.04302609	0.03109	T	0.065608	0.69631	D	0.091	0.26358	.	.	0.043077524339	0.03247	0.046988064066047205	0.04641	0.0585039543478	0.06489	0.817917883396	0.84709	D	0.001473	0.04972	T	-0.259537	0.12954	T	-0.610584	0.11938	T	0.135706610287442	0.15899	T	0.729627	0.36245	T	0.07834853	0.17837	0.09365129	0.22132	0.07834853	0.17837	0.09365129	0.22131	-4.172	0.26345	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	2.342149	0.30018	18.31	0.99422280839998278	0.63838	0.27606	0.23325	N	AEFBHCIJ	0.067251	0.13211	N	-0.592999114230102	0.19155	1.000381	-0.375698785633939	0.25724	1.416388	0.999999994035941	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.0	2.8	0.31881	1.051000	0.30027	4.938000	0.46187	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1631:0.0:0.8369:0.0	9.275	0.36853	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	312.33	35	chr3	72997044	.	G	A	312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.108;DP=617;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-1.106;SOR=0.46	GT:AD:DP:GQ:PL	0/1:27,16:43:99:326,0,626	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|1:73,47:120:99:0|1:75730450_C_T:1693,0,2913:75730450	0	0	19	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,19:92:99:.:.:255,0,2971:.	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	0/1:75,21:96:99:.:.:654,0,2975:.	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|1:92,16:108:99:0|1:75736920_C_A:395,0,3781:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,16:112:99:0|1:75736920_C_A:383,0,3929:75736920	1	0	18	0
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	0/1:103,18:121:99:137,0,3490	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	0/1:94,49:143:99:.:.:947,0,3223:.	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|1:100,57:157:99:0|1:75737092_C_T:2072,0,4024:75737092	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|1:100,56:156:99:0|1:75737092_C_T:2050,0,4030:75737092	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|1:95,56:151:99:0|1:75737092_C_T:2065,0,3820:75737092	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|1:87,56:143:99:0|1:75737092_C_T:2090,0,3485:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,32:110:99:0|1:75737092_C_T:1109,0,3179:75737092	0	0	19	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,55:124:99:.:.:2007,0,2674:.	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|1:111,65:176:99:0|1:75737590_A_G:2371,0,4441:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,69:188:99:0|1:75737590_A_G:2539,0,4789:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,72:200:99:0|1:75737590_A_G:2638,0,5158:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,72:196:99:0|1:75737590_A_G:2650,0,4990:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,62:187:99:0|1:75737590_A_G:2227,0,5062:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,60:207:99:0|1:75737814_C_T:2012,0,5585:75737814	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|1:170,37:207:99:0|1:75737881_T_C:807,0,6821:75737881	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|1:171,26:197:99:0|1:75737881_T_C:530,0,7078:75737881	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|1:169,24:193:99:0|1:75737881_T_C:475,0,7024:75737881	1	0	18	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,23:214:99:0|1:75737994_T_C:391,0,7789:75737994	7	0	12	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,17:195:99:0|1:75737994_T_C:178,0,7423:75737994	8	0	10	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	1843.57	302	chr3	75738071	.	A	G	1843.57	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.893;DP=3659;ExcessHet=2.9153;FS=8.947;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.194;MQ=57.68;MQRankSum=-9.963;QD=1.29;ReadPosRankSum=-1.839;SOR=1.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,13:192:7:0|1:75737994_T_C:7,0,7477:75737994	11	0	7	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	0/1:73,13:86:99:173,0,2079	1	0	18	0
chr3	98469641	98469641	A	G	exonic	OR5K1	.	nonsynonymous SNV	OR5K1:NM_001004736:exon1:c.A65G:p.E22G	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00246543017696	0.0027	0.000798722	0.0021	0.0005	0.0018	0	0.0002	0.0032	0.0011	0.0010	0.0019469	301	154602	rs190259915	0.0023	0.0023	0.0023	0.0023	0.0073	0.0022	0.0022	0.0055	0.0049	0.0004	0.0018	0.0205	2.519e-05	0.0003	0.0073	0.0021	0.0039	0.0010	0.0022	0.0022	0.0023	0.0020	0.0045	0.0020	0.0019	0.0036	0.0033	0.0004	0	0.0045	0.0216	0	0.0003	0.0034	0.0024	0.0009	0.0006	0.222	0.18823	T	0.134	0.34241	T	0.003	0.11197	B	0.005	0.11217	B	0.016489	0.27965	N	0.165696	0.999866	0.19989	N	1.56	0.39490	L	7.4	0.00411	T	-3.21	0.64826	D	0.114	0.10198	-0.9330	0.43695	T	0.001	0.00287	T	10	0.0047115386	0.00099	T	0.002465	0.04868	T	0.122	0.33800	.	.	0.562540394707	0.55916	0.16676417018101172	0.16596	0.0219589980584	0.02200	0.211319386959	0.00868	T	0.030826	0.21757	T	-0.613179	0.00121	T	-0.658492	0.08369	T	0.0189501159278525	0.00605	T	0.0263974	0.00160	T	0.11977177	0.28196	0.19219825	0.42721	0.11977177	0.28195	0.19219825	0.42720	-5.69	0.43605	T	.	.	0.110	0.21125	B	.;.	.;.	1.986168	0.25231	16.69	0.98704123096557006	0.44953	0.96821	0.71120	D	AEFGI	0.380193	0.46292	N	-0.318731664849088	0.28436	1.568469	-0.239865086665649	0.30123	1.693331	0.00259263629106932	0.09558	0.487112	0.14033	0	0.573888	0.26702	0	0.446627	0.06593	0	0.542086	0.14980	0	.	.	5.05	3.85	0.43556	3.307000	0.51597	.	.	0.667000	0.69007	0.108000	0.22953	0.018000	0.20648	0.610000	0.31640	0.9107:0.0:0.0893:0.0	9.207	0.36455	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3814.33	35	chr3	98469641	.	A	G	3814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.271;DP=926;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.27;MQRankSum=-2.123;QD=15.57;ReadPosRankSum=1.08;SOR=0.728	GT:AD:DP:GQ:PL	0/1:112,133:245:99:3828,0,3144	18	0	1	0
chr3	122568928	122568928	C	T	exonic	DTX3L	.	nonsynonymous SNV	DTX3L:NM_138287:exon3:c.C839T:p.T280I	.	440	1066	15	1	0	17	0.00791066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0012	0.00199681	0.0028	0	0.0010	0	0.0003	0.0015	0.0034	0.0129	0.0024256	375	154602	rs150765058	0.0020	0.0020	0.0016	0.0024	0.0127	0.0019	0.0019	0.0121	0.0118	0.0002	0.0011	0.0002	2.519e-05	0.0002	0.0040	0.0014	0.0022	0.0127	0.0014	0.0014	0.0015	0.0012	0.0099	0.0012	0.0012	0.0077	0.0069	0.0005	0.0022	0.0011	0	0.0002	0	0	0.0017	0.0019	0.0099	0.24	0.17701	T	0.26	0.23029	T	0.055	0.22733	B	0.012	0.16012	B	0.970369	0.07774	N	1.014710	1	0.08975	N	1.355	0.33814	L	1.47	0.31987	T	-1.77	0.41809	N	0.034	0.00942	-0.9992	0.30143	T	0.051	0.21572	T	10	0.002496779	0.00038	T	.	.	.	0.027	0.05988	.	.	0.166414681773	0.16258	0.22390698128926792	0.22305	0.12876088093	0.14513	0.320928812027	0.13562	T	0.069773	0.33794	T	-0.705954	0.00034	T	-0.776442	0.02562	T	0.011062904583555	0.00160	T	0.573743	0.20563	T	0.032648463	0.03331	0.041804355	0.04836	0.032648463	0.03331	0.041804355	0.04836	-4.119	0.25569	T	.	.	0.097	0.15609	B	.	.	-0.401025	0.02208	0.221	0.62373071284015558	0.06946	0.04383	0.09962	N	AEFDGBI	0.020812	0.00859	N	-1.10467207507121	0.06560	0.3023053	-1.19944497374781	0.05920	0.2834475	0.999999295850087	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.52	-4.73	0.03022	-0.980000	0.03880	-4.061000	0.02365	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1237:0.1693:0.0:0.707	9.653	0.39072	462	0.78611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1572.33	34	chr3	122568928	.	C	T	1572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.11;DP=781;ExcessHet=0;FS=1.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-1.607;SOR=0.858	GT:AD:DP:GQ:PL	0/1:83,66:149:99:1586,0,2048	18	0	1	0
chr3	124809080	124809080	T	G	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354764:exon9:c.A881C:p.Q294P,ITGB5:NM_001354765:exon9:c.A881C:p.Q294P,ITGB5:NM_002213:exon9:c.A1205C:p.Q402P	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	0.120757467024	.	0.000399361	0.0002	0	8.639e-05	0	0	0	0	0.0017	0.0002135	33	154602	rs536114448	0.0001	0.0001	6.262e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0005	1.079e-05	0.0002	0.0018	6.567e-05	6.562e-05	0	0.0001	0.0021	3.515e-05	2.615e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.125	0.27310	T	0.117	0.36365	T	0.999	0.77913	D	0.972	0.72692	D	0.000058	0.53742	D	0.131198	1	0.81001	D	0.995	0.25082	L	-3.07	0.92508	D	-2.59	0.55821	D	0.758	0.75650	0.663	0.92713	D	0.777	0.92439	D	10	0.2229256	0.39057	T	0.120757	0.80137	D	0.853	0.95470	.	.	0.986361564734	0.98620	0.8658328736791546	0.86548	0.943060605836	0.72287	0.543304145336	0.44912	T	0.736361	0.92661	D	0.0491796	0.58239	T	0.290603	0.87712	D	0.199357042209998	0.20381	T	0.79532	0.46599	T	0.42472312	0.62404	0.39521325	0.64195	0.42472312	0.62405	0.39521325	0.64195	-5.65	0.43246	T	.	.	0.113	0.32054	B	.;.	.;.	4.268948	0.64932	24.8	0.99248903288940415	0.56792	0.97453	0.74846	D	AEFBI	0.960053	0.98068	D	0.598182897834337	0.73061	5.904948	0.62954446412755	0.77097	6.613892	0.999999999999171	0.74766	0.732398	0.92422	0	0.627178	0.54094	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	7.538000	0.80960	7.932000	0.75071	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.0:1.0	15.498	0.75410	866	0.32446	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1339.33	33	chr3	124809080	.	T	G	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-1.437;SOR=0.701	GT:AD:DP:GQ:PL	0/1:72,57:129:99:1353,0,1708	18	0	1	0
chr3	125563703	125563703	C	G	exonic	OSBPL11	.	nonsynonymous SNV	OSBPL11:NM_022776:exon7:c.G1009C:p.A337P	.	430	1090	1	0	1	2	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00639010457038	.	.	0.0004	0	0	0	0	1.499e-05	0	0.0027	0.0002975	46	154602	rs146042429	0.0002	0.0002	5.581e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	2.988e-05	0	0	0	0	0	2.698e-06	0.0002	0.0024	9.848e-05	9.842e-05	5.139e-05	0.0001	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.362	0.11844	T	0.287	0.21210	T	0.0	0.02946	B	0.0	0.01387	B	0.236843	0.15798	N	0.620908	0.809204	0.29021	N	0	0.06538	N	2.2	0.18570	T	-0.01	0.07155	N	0.208	0.23125	-1.0133	0.25880	T	0.017	0.07140	T	10	0.0069034696	0.00157	T	0.00639	0.16812	T	0.033	0.08068	0.392	0.41606	0.250512400709	0.24649	0.20020077892826815	0.19937	0.61343527354	0.55908	0.345027327538	0.17186	T	0.016841	0.13845	T	-0.52424	0.00415	T	-0.531049	0.19182	T	0.0229632219552941	0.01019	T	0.69713	0.30670	T	0.06195635	0.12888	0.041967664	0.04891	0.06195635	0.12887	0.041967664	0.04890	-2.965	0.09809	T	.	.	0.069	0.03197	B	.	.	1.701808	0.21679	15.30	0.95227784930594184	0.26456	0.63280	0.32040	D	AEFBI	0.206120	0.33241	N	-0.836811660042394	0.12377	0.6029344	-0.720062887150652	0.16461	0.8709383	0.00166747586990934	0.08760	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.83	0.66	0.17038	0.090000	0.14865	.	.	0.549000	0.26987	0.598000	0.27730	0.270000	0.24042	0.990000	0.65344	0.2229:0.3407:0.0:0.4364	2.506	0.04363	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	773.33	31	chr3	125563703	.	C	G	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=1.34;SOR=0.859	GT:AD:DP:GQ:PL	0/1:25,28:53:99:787,0,608	18	0	1	0
chr3	127284446	127284446	C	T	exonic	PRR20G	.	nonsynonymous SNV	PRR20G:NM_001362810:exon3:c.G247A:p.G83S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs180913645	0	8.906e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0004	0.0003	0.0005	0.0060	0.0003	0.0003	0.0043	0.0038	0.0003	0	0	0	0.0060	0.0008	0	0	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010530114	0.00234	T	.	.	.	.	.	.	.	.	.	0.011852316231535487	0.01145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531447	0.17660	T	0.032440852	0.03270	0.064482704	0.12930	0.032440852	0.03270	0.064482704	0.12929	-5.577	0.42582	T	.	.	0.161	0.35622	B	.	.	1.223940	0.16181	12.37	0.72997503498293115	0.10170	0.01775	0.05566	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.426310257147131	0.20333	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0533551	0.11823	2.9	-5.79	0.02162	-0.150000	0.10174	-2.388000	0.03816	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1243:0.1734:0.5983:0.104	5.805	0.17697	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	109.78	4	chr3	127284446	.	C	T	109.78	.	AC=2;AF=0.071;AN=28;DP=34;ExcessHet=0;FS=0;InbreedingCoeff=0.2058;MLEAC=2;MLEAF=0.071;MQ=60;QD=27.45;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,4:4:12:127,12,0	13	1	0	5
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	0/1:60,17:77:99:.:.:201,0,1323:.	3	0	16	0
chr3	129575841	129575841	C	G	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon10:c.G2361C:p.E787D	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0226215720311	.	.	9.213e-06	0	0	0	0	0	0	6.806e-05	6.5e-06	1	154602	rs779593197	3.426e-06	3.42e-06	5.455e-06	1.377e-06	3.485e-05	1e-06	7.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0	1.802e-06	0	3.485e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.22	0.25907	T	0.22	0.30288	B	0.074	0.28220	B	0.000491	0.00618	N	3.510990	0.999274	0.46519	D	1.04	0.26193	L	1.21	0.37230	T	-1.64	0.39314	N	0.2	0.22098	-1.0415	0.16860	T	0.102	0.37793	T	10	0.23592371	0.40662	T	0.022622	0.45526	T	0.069	0.20116	0.583	0.70990	0.418401263072	0.41457	0.6837841910342137	0.68317	0.267880577552	0.29325	0.429571211338	0.29149	T	0.182102	0.53400	T	-0.253738	0.13642	T	-0.501624	0.22179	T	0.155620163630831	0.17542	T	0.623338	0.24021	T	0.10994835	0.25992	0.10698891	0.25750	0.10994835	0.25992	0.10698891	0.25749	-5.755	0.44180	T	.	.	0.394	0.59262	A	.	.	1.352174	0.17601	13.26	0.98627238995677002	0.43866	0.69500	0.34212	D	AEFDBHCI	0.260353	0.37851	N	-0.637093284115143	0.17838	0.9213211	-0.661102565348029	0.17937	0.9559903	0.99999688052817	0.74766	0.67177	0.52595	0	0.578056	0.33634	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	3.96	0.963	0.18769	-0.167000	0.09928	-0.401000	0.09410	0.599000	0.40250	0.873000	0.30851	0.093000	0.22564	0.969000	0.54022	0.0:0.6095:0.0:0.3905	7.518	0.26779	544	0.72685	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1614.33	34	chr3	129575841	.	C	G	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.83;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.42;SOR=0.652	GT:AD:DP:GQ:PL	0/1:85,73:158:99:1628,0,2077	18	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R,COL6A5:NM_153264:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	540.41	48	chr3	130421334	.	G	C	540.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.412;DP=894;ExcessHet=2.0135;FS=255.487;InbreedingCoeff=-0.1841;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.23;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,13:63:99:0|1:130421334_G_C:286,0,1952:130421334	15	0	4	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	5712.42	63	chr3	130421335	.	G	C	5712.42	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,15:65:99:0|1:130421334_G_C:318,0,1947:130421334	9	0	7	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,15:65:99:0|1:130421334_G_C:318,0,1947:130421334	3	0	13	3
chr3	130471687	130471687	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon40:c.T7580C:p.L2527P	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	.	.	0.0263578	0.0285	0.0109	0.0160	0.0657	0	0.0006	0	0.0428	0.0037645	582	154602	rs79145375	0.0054	0.0051	0.0043	0.0065	0.0483	0.0053	0.0053	0.0464	0.0457	0.0160	0.0021	0	0.0483	0.0248	0.0044	0.0003	0.0092	0.0431	0.0099	0.0099	0.0087	0.0111	0.0468	0.0095	0.0093	0.0420	0.0401	0.0163	0	0.0037	0	0.0468	0.0224	0	0.0010	0.0071	0.0438	0.003	0.72154	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.999514	0.21065	N	.	.	.	-1.29	0.79475	T	-2.17	0.49018	N	0.19	0.20793	-0.6062	0.64560	T	0.230	0.59571	T	8	0.0027344525	0.00043	T	.	.	.	0.177	0.44549	.	.	.	.	0.425289673021384	0.42445	0.041224094407	0.04422	0.503200650215	0.39274	T	0.011191	0.16015	T	-0.44479	0.01212	T	-0.375181	0.36285	T	0.00969623317858612	0.00127	T	0.324568	0.07525	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.47827	B	.;.;.	.;.;.	1.140838	0.15283	11.73	0.96755206101889679	0.30976	0.14460	0.18415	N	AEFI	0.145076	0.26819	N	-0.670072565404082	0.16878	0.863785	-0.66580335578034	0.17819	0.9491404	1.33745527043954E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	1.7	0.23359	0.531000	0.22759	1.420000	0.26356	0.609000	0.47794	0.541000	0.27275	0.964000	0.29435	0.041000	0.14368	0.0:0.2822:0.0:0.7178	7.354	0.25882	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	0	0	.	.	.	.	.	.	.	.	0.05263	2298.83	107	chr3	130471687	.	T	C	2298.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.197;DP=809;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.96;SOR=0.727	GT:AD:DP:GQ:PL	0/1:37,46:83:99:1263,0,928	17	0	2	0
chr3	133655431	133655431	G	A	exonic	TOPBP1	.	nonsynonymous SNV	TOPBP1:NM_001363889:exon6:c.C601T:p.L201F,TOPBP1:NM_007027:exon6:c.C601T:p.L201F	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00685007232673	8.4e-05	0.00179712	0.0013	0.0001	0	0.0001	0	0	0.0011	0.0091	0.0011061	171	154602	rs374437816	0.0005	0.0005	0.0003	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	0	2.393e-05	0	2.582e-05	0	0.0007	3.621e-06	0.0008	0.0083	0.0003	0.0003	7.714e-05	0.0006	0.0087	0.0002	0.0002	0.0066	0.0059	9.632e-05	0	0	0	0	0	0	0	0.0005	0.0087	0.064	0.36509	T	0.211	0.26631	T	0.027	0.19556	B	0.008	0.13708	B	0.001342	0.39310	N	0.213253	0.733033	0.33740	D	-0.2	0.04182	N	0.38	0.57575	T	-1.22	0.30964	N	0.219	0.24510	-1.0099	0.26949	T	0.061	0.25528	T	10	0.010058701	0.00225	T	0.00685	0.18121	T	0.081	0.23632	.	.	0.204265027416	0.20035	0.3151446428210923	0.31427	0.222461882437	0.24777	0.393697500229	0.24189	T	0.093166	0.39155	T	-0.475807	0.00783	T	-0.449985	0.27699	T	0.0363523373005231	0.03042	T	0.808619	0.45852	T	0.15188013	0.34504	0.06982334	0.14761	0.15188013	0.34504	0.06982334	0.14760	-2.264	0.04362	T	.	.	0.108	0.20391	B	.;.	.;.	3.693325	0.52633	23.3	0.99375048398740062	0.61628	0.91710	0.54099	D	AEFDGBCI	0.485757	0.52522	N	-0.278066868542326	0.29998	1.668565	-0.0589614785635752	0.37105	2.168121	0.969790180996603	0.29156	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.4	3.5	0.39181	4.540000	0.60375	9.758000	0.81499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.156:0.0:0.844:0.0	10.908	0.46305	855	0.34697	BRCT domain|BRCT domain;BRCT domain|BRCT 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	0.000000	0.02632	1004.33	33	chr3	133655431	.	G	A	1004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.493;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.96;SOR=0.606	GT:AD:DP:GQ:PL	0/1:30,40:70:99:1018,0,720	18	0	1	0
chr3	136145123	136145123	T	C	exonic	PPP2R3A	.	nonsynonymous SNV	PPP2R3A:NM_001190447:exon13:c.T1202C:p.L401P,PPP2R3A:NM_181897:exon13:c.T1547C:p.L516P,PPP2R3A:NM_002718:exon14:c.T3410C:p.L1137P	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.00199681	0.0013	0	0	0	0	3.008e-05	0	0.0091	0.0010543	163	154602	rs535866427	0.0006	0.0006	0.0004	0.0008	0.0091	0.0006	0.0006	0.0086	0.0083	8.968e-05	2.239e-05	0	2.521e-05	0	0.0003	4.857e-05	0.0007	0.0091	0.0003	0.0003	0.0001	0.0006	0.0108	0.0003	0.0002	0.0084	0.0076	0	0	6.534e-05	0	0	0	0	0	0	0.0108	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.001718	0.38216	N	0.171002	0.999998	0.58761	D	2.045	0.56016	M	2.97	0.29866	T	-1.18	0.37759	N	0.523	0.55280	-0.9337	0.43590	T	0.137	0.45280	T	10	0.0049233735	0.00105	T	.	.	.	0.165	0.42395	0.238	0.16912	0.321115633427	0.31720	0.5989735952257256	0.59828	0.259252817373	0.28482	0.459696471691	0.33268	T	0.013606	0.11736	T	-0.227089	0.17035	T	-0.0917255	0.64032	T	0.067099882015504	0.08238	T	0.70043	0.31009	T	0.5104371	0.67704	0.47084212	0.69317	0.5104371	0.67705	0.47084212	0.69318	-2.705	0.09314	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	4.244641	0.64379	24.7	0.99896095026491205	0.96895	0.84917	0.44012	D	AEFBCI	0.737642	0.68277	D	0.512452246220375	0.67826	5.133621	0.504122671058449	0.68267	5.196564	0.999999623162516	0.74766	0.651	0.46895	0	0.514364	0.08380	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	5.69	5.69	0.88346	4.911000	0.63024	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.423000	0.27295	0.0:0.0:0.0:1.0	13.688	0.62005	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	819.33	37	chr3	136145123	.	T	C	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.791;DP=686;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.113;SOR=0.752	GT:AD:DP:GQ:PL	0/1:31,36:67:99:833,0,732	18	0	1	0
chr3	149780310	149780310	T	C	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon3:c.A380G:p.Y127C,ANKUB1:NM_001315506:exon3:c.A380G:p.Y127C	.	428	1076	18	0	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0096	0.00259585	0.0065	0.0028	0.0048	0	0.0074	0.0109	0.0164	0.0028	0.002238	346	154602	rs62622807	0.0092	0.0088	0.0093	0.0090	0.0104	0.0090	0.0090	0.0103	0.0102	0.0017	0.0051	0.0059	5.596e-05	0.0085	0.0028	0.0104	0.0079	0.0038	0.0071	0.0071	0.0075	0.0066	0.0110	0.0067	0.0066	0.0104	0.0101	0.0017	0.0164	0.0069	0.0061	0	0.0078	0.0034	0.0110	0.0076	0.0033	0.006	0.61437	D	0.003	0.76473	D	.	.	.	.	.	.	0.036746	0.24484	N	0.344622	0.626684	0.30734	N	1.845	0.48678	L	1.59	0.28836	T	-4.27	0.77308	D	0.535	0.60241	-0.9800	0.35002	T	0.059	0.24871	T	10	0.009616643	0.00217	T	.	.	.	0.059	0.16972	.	.	0.16115917748	0.15686	0.6313377433510485	0.63067	.	.	0.464682281017	0.33951	T	0.119024	0.44027	T	-0.479141	0.00748	T	-0.449998	0.27697	T	0.0280924054870064	0.01701	T	0.824917	0.49388	T	0.1765746	0.38577	0.19020109	0.42409	0.1765746	0.38577	0.19020109	0.42408	-6.139	0.48165	T	.	.	0.345	0.57261	A	.;.	.;.	4.040737	0.59821	24.1	0.99617837872995507	0.75233	0.65854	0.32878	D	AEFGBI	0.259308	0.37768	N	0.110943789790052	0.46974	2.929609	0.0792487679677218	0.43505	2.650986	0.999044745899756	0.38290	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.35	2.57	0.29928	1.470000	0.34963	5.183000	0.47871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.4138:0.0:0.0:0.5862	9.733	0.39540	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1407.33	35	chr3	149780310	.	T	C	1407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.52;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.234;SOR=0.625	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1421,0,1458	18	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L,SLC33A1:NM_001363883:exon1:c.C353T:p.P118L,SLC33A1:NM_004733:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	5341.98	127	chr3	155853645	.	G	A	5341.98	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,30:109:99:.:.:680,0,1784:.	16	0	2	1
chr3	158203173	158203173	G	A	exonic	RSRC1	.	nonsynonymous SNV	RSRC1:NM_001271838:exon4:c.G422A:p.G141D,RSRC1:NM_016625:exon4:c.G422A:p.G141D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00477597659891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.044	0.91255	D	0.065	0.44702	T	0.354	0.33710	B	0.289	0.40655	B	0.002075	0.37317	N	0.292333	1	0.81001	D	1.095	0.27400	L	.	.	.	-1.75	0.66780	N	0.217	0.29429	-0.9297	0.44183	T	0.118	0.41538	T	9	0.14465183	0.27448	T	0.004776	0.11910	T	0.049	0.13647	0.182	0.09004	0.649436034143	0.64652	0.24992038276425038	0.24906	0.0968026728174	0.10928	0.570001363754	0.48678	T	0.080085	0.41611	T	-0.0299844	0.47420	T	-0.280847	0.46717	T	0.453011495484477	0.30907	T	0.756624	0.52334	T	0.074311055	0.16667	0.12139064	0.29288	0.074311055	0.16666	0.12139064	0.29288	-1.544	0.01856	T	.	.	0.243	0.57180	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.116159	0.26937	17.29	0.99443300288607861	0.64870	0.90329	0.51419	D	AEFGI	0.334258	0.43308	N	-0.120494468398573	0.36501	2.110699	-0.0571478882500645	0.37181	2.173635	5.98132739656101E-4	0.07414	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.04	1.98	0.25351	1.138000	0.31103	1.153000	0.24496	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1614:0.583:0.2557	9.32	0.37119	578	0.69858	.;.;.;.;.;.;.	.	.	.	.	.	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	83.33	42	chr3	158203173	.	G	A	83.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.57;DP=683;ExcessHet=0;FS=35.899;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=0.515;SOR=4.973	GT:AD:DP:GQ:PL	0/1:37,11:48:97:97,0,892	18	0	1	0
chr3	184870747	184870747	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon19:c.G1637A:p.R546Q,VPS8:NM_001009921:exon20:c.G1676A:p.R559Q,VPS8:NM_001349293:exon20:c.G1676A:p.R559Q,VPS8:NM_001349294:exon20:c.G1676A:p.R559Q,VPS8:NM_001349295:exon20:c.G1676A:p.R559Q,VPS8:NM_015303:exon20:c.G1670A:p.R557Q,VPS8:NM_001349292:exon21:c.G1676A:p.R559Q	.	437	1082	3	0	0	3	0.0013844	.	.	.	3626676	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00924875835884	.	.	9.178e-05	0	0.0001	0	0	3.674e-05	0.0014	0.0004	5.82e-05	9	154602	rs759209310	5.479e-05	5.472e-05	4.36e-05	6.609e-05	0.0002	4.482e-05	4.152e-05	0.0001	0.0001	0	0	0	0	0	0.0002	5.4e-05	3.315e-05	0.0002	2.629e-05	2.625e-05	0	5.379e-05	0.0004	8.14e-06	5.14e-06	7.31e-05	3.036e-05	0	0	0	0	0	0	0	2.942e-05	0	0.0004	0.263	0.16412	T	0.413	0.14412	T	0.979	0.59044	D	0.236	0.38470	B	0.008473	0.30825	N	0.307987	1	0.08975	N	1.61	0.41143	L	2.2	0.18570	T	-0.46	0.14978	N	0.481	0.52119	-1.0189	0.24074	T	0.028	0.12190	T	10	0.09655419	0.17327	T	0.009249	0.24296	T	0.063	0.18251	.	.	0.388174495139	0.38433	0.2972052126229819	0.29633	.	.	0.375344634056	0.21595	T	0.012998	0.11321	T	-0.356992	0.04303	T	-0.454379	0.27213	T	0.107100136578083	0.13120	T	0.961904	0.85651	D	0.05580201	0.10893	0.0627907	0.12340	0.05580201	0.10892	0.0627907	0.12339	-4.536	0.31356	T	.	.	0.102	0.17995	B	.;.;.;.	.;.;.;.	4.547077	0.71521	25.7	0.99804068594047035	0.88817	0.63938	0.32246	D	AEFBI	0.109239	0.21704	N	0.0384551503671863	0.43612	2.650765	0.177563711825325	0.48621	3.075504	0.00164433690865032	0.08740	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.35	4.47	0.53770	2.849000	0.47985	8.656000	0.77953	0.676000	0.76740	0.945000	0.32849	1.000000	0.68203	0.998000	0.85391	0.1524:0.0:0.8476:0.0	9.776	0.39786	765	0.49814	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2827.81	33	chr3	184870747	.	G	A	2827.81	.	AC=2;AF=0.053;AN=38;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28;SOR=0.839	GT:AD:DP:GQ:PL	1/1:0,101:101:99:2855,303,0	18	1	0	0
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	4826.7	365	chr3	195783321	.	A	*	4826.7	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.524;DP=3197;ExcessHet=0;FS=3.209;InbreedingCoeff=0.3698;MLEAC=2;MLEAF=0.063;MQ=56.45;MQRankSum=-0.133;QD=11.69;ReadPosRankSum=6.33;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,58:59:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:2250,133,0:195783319	15	1	0	3
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	4909.15	363	chr3	195783323	.	G	*	4909.15	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-3.144;DP=3354;ExcessHet=0;FS=4.024;InbreedingCoeff=0.309;MLEAC=2;MLEAF=0.067;MQ=56.46;MQRankSum=-0.211;QD=12.21;ReadPosRankSum=7.28;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,58:59:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:2250,133,0:195783319	14	1	0	4
chr3	195783327	195783327	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	40.52	279	chr3	195783327	.	G	*	40.52	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.072;DP=2870;ExcessHet=0;FS=16.939;InbreedingCoeff=0.6381;MLEAC=2;MLEAF=0.053;MQ=50.94;MQRankSum=-2.512;QD=0.34;ReadPosRankSum=-0.853;SOR=2.147	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,60:62:99:.:.:6377,428,0:.	18	1	0	0
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	97.0	279	chr3	195783332	.	T	*	97.0	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.89;DP=2758;ExcessHet=0.0101;FS=13.896;InbreedingCoeff=0.3847;MLEAC=2;MLEAF=0.056;MQ=48.8;MQRankSum=1.44;QD=0.66;ReadPosRankSum=-0.925;SOR=1.788	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,60:62:99:.:.:6377,428,0:.	17	1	0	1
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	54.31	279	chr3	195783335	.	C	*	54.31	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=2697;ExcessHet=0.0101;FS=17.156;InbreedingCoeff=0.446;MLEAC=2;MLEAF=0.053;MQ=48.63;MQRankSum=1.43;QD=0.41;ReadPosRankSum=0.139;SOR=1.985	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,60:62:99:.:.:6377,428,0:.	18	1	0	0
chr3	195783338	195783338	C	0	exonic	MUC4	.	.	.	.	455	1007	2	0	58	60	0.000992063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1423.54	279	chr3	195783338	.	C	*	1423.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.682;DP=2666;ExcessHet=0;FS=7.466;InbreedingCoeff=0.6297;MLEAC=2;MLEAF=0.053;MQ=53.91;MQRankSum=-4.13;QD=7.95;ReadPosRankSum=8.98;SOR=1.301	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,60:62:99:.:.:6377,428,0:.	18	1	0	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	12527.1	280	chr3	195783346	.	A	*	12527.1	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.493;DP=2707;ExcessHet=2.5225;FS=0;InbreedingCoeff=0.086;MLEAC=4;MLEAF=0.25;MQ=52.37;MQRankSum=-1.593;QD=18.45;ReadPosRankSum=0.546;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,60:62:99:.:.:6377,428,0:.	7	1	0	11
chr3	195783354	195783354	A	0	exonic	MUC4	.	.	.	.	502	956	29	30	5	94	0.0444778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	537.57	239	chr3	195783354	.	A	*	537.57	.	AC=3;AF=0.088;AN=34;BaseQRankSum=3.27;DP=1975;ExcessHet=0.0113;FS=21.369;InbreedingCoeff=0.3265;MLEAC=3;MLEAF=0.088;MQ=37.44;MQRankSum=2.87;QD=3.79;ReadPosRankSum=-0.834;SOR=2.383	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,60:62:99:.:.:6377,428,0:.	15	1	1	2
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4679.71	226	chr3	195783357	.	C	*	4679.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.61;DP=1904;ExcessHet=0.0234;FS=5.732;InbreedingCoeff=0.0733;MLEAC=5;MLEAF=0.357;MQ=47.81;MQRankSum=-0.674;QD=18.64;ReadPosRankSum=-0.967;SOR=1.23	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,60:62:99:.:.:6377,428,0:.	5	1	1	12
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1271.65	205	chr3	195783367	.	A	*	1271.65	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.909;DP=2296;ExcessHet=0;FS=11.24;InbreedingCoeff=0.2326;MLEAC=4;MLEAF=0.333;MQ=37.9;MQRankSum=-0.179;QD=11.25;ReadPosRankSum=2.84;SOR=2.16	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,60:62:99:.:.:6377,428,0:.	5	1	0	13
chr3	195783428	195783428	T	0	exonic	MUC4	.	.	.	.	597	866	30	28	1	87	0.0473047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	244.87	36	chr3	195783428	.	T	*	244.87	.	AC=2;AF=0.059;AN=34;DP=711;ExcessHet=0;FS=10.072;InbreedingCoeff=0.9355;MLEAC=2;MLEAF=0.059;MQ=36.84;QD=4.01;SOR=4.47	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,54:55:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:6135,442,0:195783319	16	1	0	2
chr3	195783431	195783431	C	0	exonic	MUC4	.	.	.	.	606	857	30	28	1	87	0.0477778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	157.03	36	chr3	195783431	.	C	*	157.03	.	AC=2;AF=0.059;AN=34;DP=707;ExcessHet=0;FS=9.927;InbreedingCoeff=0.9355;MLEAC=2;MLEAF=0.059;MQ=37.58;QD=2.66;SOR=4.398	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,54:55:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:6135,442,0:195783319	16	1	0	2
chr3	195783439	195783439	T	0	exonic	MUC4	.	.	.	.	23	186	1	0	16	17	0.00268097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	72.55	36	chr3	195783439	.	T	*	72.55	.	AC=2;AF=0.067;AN=30;DP=690;ExcessHet=0;FS=16.021;InbreedingCoeff=0.8636;MLEAC=2;MLEAF=0.067;MQ=35;QD=1.73;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,39:40:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:5460,396,0:195783319	14	1	0	4
chr3	195783455	195783599	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	0	exonic	MUC4	.	.	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	94.35	36	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	*	94.35	.	AC=2;AF=0.067;AN=30;DP=689;ExcessHet=0;FS=19.759;InbreedingCoeff=0.845;MLEAC=2;MLEAF=0.067;MQ=40.85;MQRankSum=-0.319;QD=2.14;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,39:40:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:5460,396,0:195783319	14	1	0	4
chr3	195783456	195783456	G	0	exonic	MUC4	.	.	.	.	569	867	12	11	63	97	0.0192308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1197.96	36	chr3	195783456	.	G	*	1197.96	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-0.467;DP=690;ExcessHet=0;FS=14.412;InbreedingCoeff=0.9713;MLEAC=4;MLEAF=0.125;MQ=43.21;MQRankSum=0.153;QD=14.26;ReadPosRankSum=-0.867;SOR=4.22	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,39:40:99:1|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:5460,396,0:195783319	14	2	0	3
chr3	195783496	195783496	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8084A:p.S2695Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0888	0.0154	0.125	0.0433	0.1306	0.0761	0.0465	0.1018	0.0001153	3	26028	rs769072565	0.0030	0.0079	0.0029	0.0031	0.0047	0.0029	0.0029	0.0043	0.0041	0.0010	0.0017	0.0052	0.0023	0.0052	0.0046	0.0029	0.0031	0.0047	0.0007	0.0028	0.0013	0	0.0016	0	0	.	.	0	0	0	0	0	0	0	0.0016	0	0	0.001	0.78490	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.46	0.32722	T	-0.05	0.10480	N	0.043	0.01577	-1.0116	0.26416	T	0.041	0.17530	T	6	0.0036363006	0.00066	T	.	.	.	0.013	0.01715	.	.	.	.	1.467579142754757E-4	0.00012	.	.	0.542433857918	0.44789	T	.	.	.	-0.263888	0.12448	T	-0.616834	0.11435	T	0.0421908303122861	0.04090	T	0.684832	0.29327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	1.371228	0.17813	13.38	0.30667092946257996	0.01689	0.00838	0.03362	N	AEFBI	0.089729	0.18187	N	-0.82776420852381	0.12603	0.6153997	-1.00259515949732	0.09728	0.4856676	1.73116509190477E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	0.001000	0.12940	-0.141000	0.11517	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.303:0.0:0.697:0.0	3.506	0.07252	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	.	.	.	.	.	.	.	.	0.03125	487.82	36	chr3	195783496	.	G	T	487.82	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.65;DP=523;ExcessHet=0;FS=11.335;InbreedingCoeff=0.6512;MLEAC=1;MLEAF=0.031;MQ=48.7;MQRankSum=0;QD=28.7;ReadPosRankSum=-1.645;SOR=2.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,12:13:7:0|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:500,0,7:195783319	15	0	1	3
chr3	195783503	195783549	CGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8031_8077del:p.S2677Rfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0	0	0	0.0242	0.0011	0	0.0016	.	.	.	.	8.57e-06	0.0001	8.468e-06	8.675e-06	7.219e-05	3.69e-06	2.66e-06	1.195e-05	4.47e-06	0	0	0	7.219e-05	0	0	6.921e-06	2.728e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	68.21	31	chr3	195783502	.	TCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGG	T	68.21	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.967;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=0.5797;MLEAC=1;MLEAF=0.033;MQ=49.36;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.967;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:37:0|1:195783319_GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA_G:80,0,37:195783319	14	0	1	4
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07692	217.39	102	chr4	2662992	.	G	C	217.39	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-3.219;DP=1811;ExcessHet=0.119;FS=199.457;InbreedingCoeff=-0.1563;MLEAC=3;MLEAF=0.115;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=1.45;SOR=10.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,38:122:51:.:.:51,0,1561:.	11	0	2	6
chr4	2933632	2933632	A	C	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon2:c.T203G:p.V68G,MFSD10:NM_001146069:exon3:c.T203G:p.V68G,MFSD10:NM_001363679:exon3:c.T203G:p.V68G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.649	0.241454251617	.	.	5.121e-05	0	0	0	0.0007	3.114e-05	0	0	6.5e-06	1	154602	rs752022266	2.464e-05	3.694e-05	2.588e-05	2.339e-05	5.042e-05	1.804e-05	1.601e-05	8.36e-06	3.13e-06	0	0	0	5.042e-05	0.0006	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.97	0.85306	M	0.69	0.76561	T	-5.74	0.89759	D	0.657	0.71055	0.310	0.87711	D	0.610	0.86183	D	10	0.8410578	0.83262	D	0.241454	0.88718	D	0.649	0.86736	0.698	0.83499	0.685150128463	0.68245	0.85848537955436	0.85811	0.0979166354652	0.11043	0.594095468521	0.52072	T	0.436246	0.81430	T	0.364349	0.87584	D	0.285585	0.87424	D	0.861658573150635	0.51202	D	0.583942	0.21221	T	0.93061435	0.94299	0.8057216	0.88629	0.93061435	0.94299	0.8057216	0.88629	-13.433	0.91068	D	.	.	0.426	0.60968	A	.;.;.;.;.	.;.;.;.;.	4.812846	0.78317	26.9	0.99419618963506473	0.63694	0.93370	0.58035	D	AEFDBCI	0.940207	0.94183	D	0.555740798461114	0.70432	5.500713	0.449123243219805	0.64659	4.726392	0.999999999804877	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.26897	0.05253	2	0.56214	0.19341	0	.	.	4.4	4.4	0.52402	8.830000	0.91679	7.721000	0.67307	0.632000	0.51917	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	1.0:0.0:0.0:0.0	13.642	0.61727	614	0.66605	Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018145	0.005102	0.063859	0.029240	0.000000	0.034483	0.030488	0.022727	0.02632	1242.33	39	chr4	2933632	.	A	C	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=876;ExcessHet=0;FS=1.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.55;SOR=0.874	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1256,0,1340	18	0	1	0
chr4	3476432	3476432	C	T	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001164673:exon4:c.C422T:p.A141V,DOK7:NM_001301071:exon4:c.C422T:p.A141V,DOK7:NM_173660:exon4:c.C422T:p.A141V	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0848533464481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	1.368e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.26519	T	0.067	0.44302	T	0.999	0.77913	D	0.926	0.66095	D	0.000005	0.62929	D	0.061091	0.999951	0.52396	D	1.09	0.27330	L	-0.89	0.74793	T	-2.63	0.56466	D	0.297	0.33578	-0.1687	0.78460	T	0.501	0.81144	D	10	0.42566177	0.57156	T	0.084853	0.74411	D	0.440	0.74377	0.46	0.52753	0.850656283713	0.84922	0.49774828438387003	0.49695	0.0199147124724	0.01953	0.5747205019	0.49344	T	0.530653	0.83752	D	0.00186606	0.51911	T	-0.235096	0.51275	T	0.987035810947418	0.77612	D	0.928507	0.73679	D	0.32272214	0.54869	0.2743403	0.53361	0.32272214	0.54869	0.2743403	0.53360	-8.406	0.67400	D	0.09896139408341964	0.07134	0.142	0.31304	B	.;.	.;.	4.182339	0.62975	24.5	0.99877113193135514	0.95410	0.76925	0.37769	D	AEFBCI	0.510951	0.53979	D	0.406171165612182	0.61761	4.381694	0.372026462954681	0.59845	4.166026	0.999999999999876	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.42	4.42	0.52775	1.650000	0.36908	7.322000	0.58169	0.545000	0.25583	0.999000	0.42656	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.012	0.80206	895	0.25842	.;IRS-type PTB domain|IRS-type PTB domain|Dok-7, PTB 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	1110.33	37	chr4	3476432	.	C	T	1110.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.285;DP=812;ExcessHet=0;FS=4.476;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.282;SOR=0.683	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1124,0,1551	18	0	1	0
chr4	6018187	6018187	G	T	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364689:exon1:c.C245A:p.A82E,C4orf50:NM_001364690:exon1:c.C245A:p.A82E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13657555	0.25985	T	.	.	.	.	.	.	.	.	.	0.005320728356622861	0.00503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358964	0.08219	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.44514	B	.	.	1.735898	0.22091	15.48	0.54212530244991231	0.05093	0.05982	0.11943	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.36986016302999	0.19859	0.080785	0.02172	0	0.096583	0.02683	0	0.083675	0.02720	0	0.062806	0.01542	0	0.123474	0.25019	4.69	1.98	0.25351	0.431000	0.21163	1.549000	0.27280	-1.475000	0.01066	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.309:0.0:0.691:0.0	6.374	0.20699	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	36.81	1	chr4	6018187	.	G	T	36.81	.	AC=2;AF=0.083;AN=24;DP=22;ExcessHet=0;FS=0;InbreedingCoeff=0.2141;MLEAC=2;MLEAF=0.083;MQ=60;QD=18.41;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	7
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	0/1:102,24:126:79:79,0,2653	1	0	18	0
chr4	7041623	7041623	C	A	exonic	CCDC96	.	nonsynonymous SNV	CCDC96:NM_153376:exon1:c.G1316T:p.S439I	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0171293677559	0.0002	0.000199681	0.0003	9.61e-05	0.0007	0	0	0.0003	0.0022	0.0004	0.0002975	46	154602	rs201520565	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	2.987e-05	0.0005	3.826e-05	0	0.0001	0.0016	0.0003	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	4.809e-05	0.0164	0.0003	0	0	9.416e-05	0	0.0004	0.0005	0.0006	0.018	0.50676	D	0.012	0.63918	D	0.912	0.50421	P	0.421	0.45113	B	0.083961	0.20724	N	0.412228	0.97684	0.25349	N	0.695	0.17993	N	0.88	0.46028	T	-2.61	0.56144	D	0.105	0.08925	-1.0552	0.12987	T	0.074	0.29770	T	10	0.008828789	0.00200	T	0.017129	0.38702	T	0.071	0.20720	.	.	0.0806252709748	0.07271	0.08874174416155649	0.08807	.	.	0.535546064377	0.43817	T	0.250395	0.62048	T	-0.490643	0.00644	T	-0.569101	0.15532	T	0.0485748518309664	0.05246	T	0.677732	0.28664	T	0.15109497	0.34365	0.12852198	0.30919	0.15109497	0.34365	0.12852198	0.30918	-3.182	0.12262	T	.	.	0.454	0.62391	A	.	.	2.539792	0.32855	19.17	0.99338026827308801	0.60051	0.31775	0.24422	N	AEFDBI	0.240615	0.36237	N	-0.311750049497598	0.28701	1.58526	-0.35419222755367	0.26379	1.45671	0.999835809306252	0.43792	0.549168	0.22868	0	0.627178	0.54094	0	0.61531	0.40942	0	0.650387	0.60102	1	.	.	3.55	2.38	0.28415	1.369000	0.33832	1.881000	0.29453	-0.278000	0.06506	0.004000	0.16614	0.890000	0.27818	0.974000	0.55675	0.0:0.1234:0.3907:0.4859	4.830	0.12799	884	0.28482	Domain of unknown function DUF4201	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2423.33	34	chr4	7041623	.	C	A	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.271;DP=848;ExcessHet=0;FS=5.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.379;SOR=0.434	GT:AD:DP:GQ:PL	0/1:126,94:220:99:2437,0,3425	18	0	1	0
chr4	8232080	8232080	A	G	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon13:c.A2827G:p.K943E,SH3TC1:NM_018986:exon13:c.A3055G:p.K1019E	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.0211122064486	.	0.000998403	0.0004	0	8.661e-05	0	0	1.514e-05	0	0.0025	0.0003234	50	154602	rs552981639	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	2.987e-05	0	0	0	0	0	5.396e-06	0.0002	0.0029	0.0001	0.0001	7.72e-05	0.0001	0.0033	6.517e-05	5.328e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.02	0.49613	D	0.143	0.33219	T	0.004	0.12183	B	0.008	0.13708	B	0.500301	0.11957	N	0.773311	1	0.08975	N	0.69	0.16971	N	-0.84	0.74265	T	-1.37	0.33998	N	0.373	0.41459	-0.9332	0.43665	T	0.237	0.60487	T	10	0.0048600733	0.00104	T	0.021112	0.43827	T	0.141	0.37795	0.492	0.57890	0.665944241059	0.66313	0.15424142490766451	0.15345	0.0351629028238	0.03706	0.510818243027	0.40337	T	0.001529	0.00977	T	-0.344982	0.05051	T	-0.273246	0.47491	T	0.0416977371532342	0.03998	T	0.832017	0.49964	T	0.16424654	0.36620	0.12773523	0.30744	0.16424654	0.36620	0.12773523	0.30743	-9.569	0.71288	D	.	.	0.120	0.24901	B	.	.	1.962359	0.24926	16.58	0.98902129658538995	0.48199	0.14956	0.18672	N	AEFBCI	0.133364	0.25300	N	-0.783896301896087	0.13729	0.6784747	-0.735166422461594	0.16088	0.8493699	0.999782421129685	0.43007	0.67177	0.52595	0	0.606735	0.50208	0	0.578056	0.29568	0	0.711	0.71501	0	.	.	4.89	2.3	0.27735	1.134000	0.31055	3.562000	0.39091	0.641000	0.52212	0.001000	0.13787	0.992000	0.31684	0.112000	0.18829	0.714:0.286:0.0:0.0	11.498	0.49666	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1567.33	34	chr4	8232080	.	A	G	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.225;DP=789;ExcessHet=0;FS=5.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.129;SOR=0.399	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1581,0,1576	18	0	1	0
chr4	8475915	8475915	G	A	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon11:c.G1465A:p.A489T,TRMT44:NM_152544:exon11:c.G2188A:p.A730T	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0002	0.00698882	0.0034	9.612e-05	0	0.0002	0.0002	0.0001	0.0011	0.0243	0.0030595	473	154602	rs145864385	0.0014	0.0014	0.0009	0.0020	0.0209	0.0014	0.0014	0.0201	0.0198	5.974e-05	6.708e-05	0	2.519e-05	0.0002	0.0003	0.0002	0.0017	0.0209	0.0011	0.0011	0.0007	0.0016	0.0300	0.0010	0.0010	0.0261	0.0245	0.0002	0	0.0001	0	0	0.0006	0	0.0002	0.0005	0.0300	0.291	0.14945	T	0.259	0.23097	T	0.622	0.39964	P	0.107	0.31211	B	0.082230	0.20821	N	0.505809	1	0.08975	N	1.59	0.40313	L	2.23	0.18083	T	-0.98	0.25986	N	0.206	0.22870	-1.0353	0.18762	T	0.025	0.10866	T	10	0.0040942132	0.00080	T	.	.	.	0.036	0.09122	.	.	0.112648838833	0.10856	0.48388820641172203	0.48308	0.0256598045511	0.02623	0.330036997795	0.14939	T	0.005943	0.05383	T	-0.591508	0.00164	T	-0.604183	0.12462	T	0.0136240195992518	0.00252	T	0.840516	0.51562	T	0.027927667	0.02054	0.041343026	0.04677	0.027927667	0.02053	0.041343026	0.04677	-7.406	0.56947	T	.	.	0.103	0.18247	B	.	.	2.343247	0.30033	18.31	0.97191707197004218	0.32771	0.14925	0.18656	N	AEFDBI	0.080571	0.16293	N	-0.390765129430621	0.25797	1.403068	-0.433457758603428	0.24021	1.313163	0.99806690504148	0.36380	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.32	3.43	0.38372	2.126000	0.41648	2.907000	0.35485	0.676000	0.76740	0.040000	0.20979	0.215000	0.23672	0.008000	0.08271	0.0:0.3509:0.4152:0.2338	7.653	0.27523	957	0.09725	Zinc finger, CCCH-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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1387.33	35	chr4	8475915	.	G	A	1387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=741;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.636;SOR=0.768	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1401,0,1512	18	0	1	0
chr4	8614433	8614433	C	G	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon8:c.C1405G:p.P469A,CPZ:NM_001014447:exon9:c.C1438G:p.P480A,CPZ:NM_001014448:exon9:c.C1027G:p.P343A	.	427	1067	28	0	0	28	0.012951	.	.	.	3214362	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.228	0.00259388436412	0.0073	0.00299521	0.0051	0.0089	0.0045	0	0	0.0063	0.0066	0.0030	0.0048253	746	154602	rs144878756	0.0049	0.0049	0.0049	0.0049	0.0276	0.0048	0.0048	0.0241	0.0227	0.0101	0.0069	0.0251	0	0.0001	0.0276	0.0045	0.0062	0.0033	0.0067	0.0067	0.0069	0.0066	0.0104	0.0064	0.0062	0.0091	0.0086	0.0089	0	0.0104	0.0265	0	0	0.0476	0.0052	0.0090	0.0029	0.375	0.11882	T	0.514	0.10930	T	0.042	0.21471	B	0.01	0.14941	B	0.000602	0.42945	D	0.238755	1	0.08975	N	1.68	0.43186	L	3.6	0.04494	T	-4.04	0.75615	D	0.381	0.44570	-0.9944	0.31459	T	0.014	0.05561	T	10	0.010112196	0.00226	T	0.002594	0.05235	T	0.228	0.52768	.	.	0.466991082792	0.46324	0.5021876389927722	0.50140	0.00390315856912	0.00340	0.433511316776	0.29689	T	0.151591	0.49161	T	-0.472502	0.00820	T	-0.440462	0.28757	T	0.0101249365468774	0.00136	T	0.775922	0.40781	T	0.15195194	0.34517	0.12209534	0.29454	0.18366434	0.39645	0.12209534	0.29454	-5.791	0.46431	T	0.10332189919655888	0.07954	0.070	0.03443	B	.;.;.	.;.;.	1.263735	0.16619	12.66	0.92042564288634698	0.21384	0.10239	0.15801	N	AEFDBCI	0.205368	0.33172	N	-0.573136651120873	0.19764	1.036938	-0.46347791261759	0.23167	1.262043	0.0602294326409206	0.15190	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.75	4.75	0.59954	0.132000	0.15716	3.098000	0.36308	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.359000	0.25863	0.163:0.6972:0.0:0.1399	6.247	0.20033	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07895	7906.77	222	chr4	8614433	.	C	G	7906.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.422;DP=3073;ExcessHet=0;FS=0.453;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=25.59;ReadPosRankSum=1.66;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,81:173:99:.:.:1993,0,2318:.	17	1	1	0
chr4	9248708	9248708	G	A	exonic	USP17L11;USP17L18	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.G79A:p.A27T,USP17L18:NM_001256859:exon1:c.G79A:p.A27T	.	467	1034	21	0	0	21	0.0100527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00270686602658	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs774572298	0.0004	0.0032	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	7.783e-05	0.0002	0	0	0.0027	0	0.0001	0.0002	0.0004	0.0003	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	4.828e-05	0	0.0005	0	0.0002	0.0013	0	0.0002	0	0	0.074	0.34621	T	0.524	0.14865	T	0.915	0.50599	P	0.313	0.41496	B	0.717578	0.06294	U	1.405290	1	0.08975	N	0.805	0.20218	L	2.7	0.12162	T	-0.74	0.20791	N	0.087	0.06454	-0.9966	0.30865	T	0.018	0.07565	T	9	0.017468572	0.00373	T	0.002707	0.05579	T	0.042	0.11227	0.217	0.13788	0.0401082797425	0.02173	0.05272389271449757	0.05214	.	.	0.477031886578	0.35648	T	0.008536	0.07834	T	-0.33562	0.05697	T	-0.719872	0.04802	T	0.0110542226950896	0.00160	T	0.767723	0.39623	T	0.07381067	0.16520	0.116396435	0.28099	0.07381067	0.16520	0.116396435	0.28098	-3.332	0.14153	T	.	.	0.087	0.11076	B	.;.	.;.	0.929057	0.13044	9.546	0.9751230001183635	0.34357	0.00185	0.01079	N	AEFI	0.025066	0.01654	N	-0.901188260506263	0.10814	0.5186707	-1.08650696883162	0.07964	0.3896231	1.11218006871861E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.066000	0.14358	.	.	0.304000	0.19002	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	69.71	213	chr4	9248708	.	G	A	69.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-5.024;DP=12753;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=29.25;MQRankSum=0.326;QD=0.04;ReadPosRankSum=0.672;SOR=0.9	GT:AD:DP:GQ:PL	0/1:1642,207:1849:83:83,0,60871	17	0	1	1
chr4	25312873	25312873	A	G	exonic	ZCCHC4	.	nonsynonymous SNV	ZCCHC4:NM_001318148:exon1:c.A64G:p.S22G,ZCCHC4:NM_024936:exon1:c.A64G:p.S22G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0004	0.00938498	0.0117	0.0016	0.1146	0.0055	0	0.0002	0.0056	0.0001	0.0109054	1686	154602	rs141777783	0.0033	0.0033	0.0039	0.0027	0.0986	0.0032	0.0032	0.0961	0.0951	0.0008	0.0986	0	0.0027	0	0	5.845e-05	0.0028	0.0002	0.0072	0.0072	0.0061	0.0083	0.0629	0.0068	0.0067	0.0596	0.0583	0.0021	0	0.0629	0	0.0031	0	0	0.0001	0.0071	0.0006	0.304	0.14303	T	0.632	0.07150	T	0.0	0.02946	B	0.0	0.01387	B	0.347202	0.04223	N	1.331650	1	0.08975	N	0.805	0.20218	L	1.51	0.30937	T	-0.79	0.21860	N	0.061	0.03283	-1.0369	0.18264	T	0.006	0.01870	T	10	0.0016601384	0.00020	T	.	.	.	0.030	0.07022	.	.	.	.	0.15655851162439183	0.15576	0.0740461901194	0.08305	0.414639174938	0.27098	T	0.005342	0.04790	T	-0.699134	0.00037	T	-0.690181	0.06379	T	0.00432550444293377	0.00046	T	0.39826	0.10085	T	0.06555107	0.14020	0.06300369	0.12413	0.06555107	0.14019	0.06300369	0.12413	-2.536	0.06032	T	.	.	0.053	0.00269	B	.	.	0.044465	0.04597	1.270	0.83997947884359725	0.15038	0.00002	0.00064	N	ALL	0.028669	0.02568	N	-1.44870712384776	0.02227	0.0981099	-1.49899950550599	0.02353	0.1080852	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.71	-5.12	0.02674	-0.698000	0.05194	0.809000	0.21733	-0.138000	0.12486	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1991:0.0:0.5353:0.2655	7.587	0.27165	689	0.59000	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1069.33	33	chr4	25312873	.	A	G	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.729;DP=713;ExcessHet=0;FS=1.848;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=2.32;SOR=0.475	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1083,0,954	18	0	1	0
chr4	25333958	25333958	T	C	exonic	ZCCHC4	.	nonsynonymous SNV	ZCCHC4:NM_001318148:exon5:c.T656C:p.I219T,ZCCHC4:NM_024936:exon5:c.T656C:p.I219T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0004	0.00978435	0.0127	0.0021	0.1232	0.0056	0	0.0003	0.0057	0.0001	0.0116234	1797	154602	rs151252286	0.0030	0.0034	0.0036	0.0025	0.0972	0.0030	0.0029	0.0947	0.0936	0.0009	0.0972	0	0.0027	0	0	6.756e-05	0.0028	0.0001	0.0075	0.0075	0.0065	0.0085	0.0649	0.0071	0.0070	0.0615	0.0602	0.0024	0	0.0649	0	0.0031	0	0	0.0002	0.0071	0.0006	0.032	0.44694	D	0.007	0.69154	D	0.024	0.19075	B	0.038	0.23361	B	0.016768	0.27892	N	0.435914	0.99164	0.41438	D	2.08	0.57402	M	1.05	0.39990	T	-2.93	0.61284	D	0.092	0.07125	-1.0568	0.12569	T	0.020	0.08360	T	10	0.0024021566	0.00036	T	.	.	.	0.105	0.29889	.	.	.	.	0.5624506910897248	0.56172	0.400484656327	0.41048	0.47166287899	0.34908	T	0.033103	0.22771	T	-0.464255	0.00924	T	-0.352794	0.38884	T	0.033478011293259	0.02551	T	0.706229	0.31676	T	0.26921958	0.49994	0.16964582	0.39015	0.26921958	0.49994	0.16964582	0.39014	-5.563	0.42453	T	.	.	0.147	0.32372	B	.	.	2.495695	0.32208	18.97	0.99347966915129704	0.60452	0.98194	0.80421	D	AEFBI	0.346302	0.44116	N	0.106775866177766	0.46780	2.91307	0.242690177876915	0.52235	3.399677	0.99991801457672	0.45857	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.42	5.42	0.78666	4.968000	0.63441	2.253000	0.31702	0.665000	0.62972	1.000000	0.71638	0.204000	0.23592	0.934000	0.47231	0.0:0.0:0.0:1.0	15.756	0.77790	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1162.33	35	chr4	25333958	.	T	C	1162.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.014;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.95;SOR=0.703	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1176,0,1630	18	0	1	0
chr4	37445685	37445685	C	T	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.C3697T:p.R1233C	.	430	1091	0	1	0	2	0.000915751	.	.	.	3459091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.224	0.0114120784389	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	2.59e-05	4	154602	rs750433863	4.644e-05	4.446e-05	3.101e-05	6.229e-05	0.0002	3.733e-05	3.402e-05	0.0001	0.0001	0.0002	0	0	2.798e-05	0	0.0002	3.429e-05	5.163e-05	0.0002	9.2e-05	9.194e-05	0.0001	6.727e-05	0.0002	5.528e-05	4.365e-05	7.892e-05	5.588e-05	0.0002	0	0	0	0	0	0	8.818e-05	0	0.0002	0.016	0.51853	D	0.004	0.74150	D	0.999	0.77913	D	0.642	0.52168	P	0.000102	0.50451	D	0.132372	0.999998	0.58761	D	2.3	0.65703	M	1.48	0.31731	T	-0.27	0.11366	N	0.516	0.54671	-1.1331	0.01640	T	0.086	0.33298	T	10	0.29229435	0.46806	T	0.011412	0.29007	T	0.224	0.52174	.	.	0.314417295294	0.31040	0.6419699046160314	0.64131	.	.	0.537240028381	0.44056	T	0.015449	0.12960	T	-0.283698	0.10280	T	-0.319348	0.42647	T	0.27316552400589	0.23882	T	0.986501	0.95398	D	0.120171376	0.28282	0.08049118	0.18210	0.120171376	0.28281	0.08049118	0.18210	-4.814	0.34754	T	.	.	0.159	0.35098	B	.	.	3.911445	0.57044	23.8	0.99861027800316349	0.93911	0.95102	0.63445	D	AEFBI	0.701166	0.65795	D	0.498231127742385	0.66986	5.021822	0.596568085450408	0.74690	6.180636	0.999999979013963	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.15	6.15	0.99186	4.516000	0.60214	6.035000	0.52961	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	20.839	0.99727	882	0.29131	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2333.33	42	chr4	37445685	.	C	T	2333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=983;ExcessHet=0;FS=1.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.319;SOR=0.857	GT:AD:DP:GQ:PL	0/1:77,82:159:99:2347,0,1925	18	0	1	0
chr4	69294741	69294741	G	A	exonic	UGT2B28	.	nonsynonymous SNV	UGT2B28:NM_053039:exon6:c.G1522A:p.V508I	.	101	1415	5	1	0	7	0.0024674	.	.	.	2822553	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.0017600498591	0.0044	0.00179712	0.0035	0.0005	0.0027	0	0.0071	0.0049	0.0023	0.0008	0.0003458	9	26028	rs150330705	0.0041	0.0041	0.0042	0.0040	0.0045	0.0040	0.0040	0.0044	0.0044	0.0008	0.0032	0.0028	0	0.0084	0.0038	0.0045	0.0040	0.0005	0.0042	0.0044	0.0044	0.0040	0.0061	0.0039	0.0038	0.0056	0.0054	0.0010	0	0.0049	0.0033	0	0.0065	0.0036	0.0061	0.0046	0.0010	0.885	0.02513	T	0.75	0.04807	T	0.0	0.02946	B	0.002	0.06944	B	0.703346	0.10075	N	0.817300	1	0.08975	N	-0.02	0.05091	N	0.29	0.58897	T	0.08	0.06026	N	0.042	0.01498	-1.0327	0.19586	T	0.054	0.22997	T	10	0.005805224	0.00129	T	0.00176	0.02986	T	0.019	0.03383	.	.	0.0482279557977	0.04254	0.017179241553666836	0.01672	0.028384968943	0.02914	0.304297208786	0.11045	T	0.003124	0.02525	T	-0.671577	0.00054	T	-0.729488	0.04350	T	0.00101740650106362	0.00010	T	0.370863	0.08760	T	0.036586255	0.04528	0.02687563	0.00803	0.036586255	0.04528	0.02687563	0.00803	-2.311	0.04615	T	.	.	0.077	0.06387	B	.	.	-0.471660	0.01959	0.169	0.096437337050818625	0.00103	0.00419	0.02071	N	AEFI	0.016100	0.00343	N	-1.76282846215195	0.00643	0.02771795	-1.798323242707	0.00764	0.03409481	1.17512467519987E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.85	-0.744	0.10542	-0.620000	0.05661	.	.	-1.042000	0.01662	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5249:0.0:0.4751:0.0	6.666	0.22229	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	1	0	0.000560	0.000000	0.001408	0.000000	0.000000	0.000000	0.006667	0.000000	0.07895	11212.8	37	chr4	69294741	.	G	A	11212.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.15;DP=1242;ExcessHet=0;FS=2.073;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=53.67;MQRankSum=-9.841;QD=22.47;ReadPosRankSum=-0.82;SOR=0.933	GT:AD:DP:GQ:PL	1/1:0,255:255:99:8019,765,0	17	1	1	0
chr4	69727170	69727170	G	T	exonic	SULT1B1	.	nonsynonymous SNV	SULT1B1:NM_014465:exon8:c.C809A:p.T270N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0118931898217	.	.	8.294e-06	0	0	0	0	0	0	6.07e-05	6.5e-06	1	154602	rs749342294	4.112e-06	4.104e-06	1.364e-06	6.888e-06	6.979e-05	1.48e-06	9.7e-07	3.003e-05	2.043e-05	0	0	0	0	0	0	0	0	6.979e-05	6.587e-06	6.57e-06	0	1.349e-05	2.419e-05	0	0	.	.	2.419e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.99	0.63424	D	0.901	0.63994	P	0.000752	0.42006	D	0.105613	0.994123	0.42169	D	3.105	0.87672	M	4.35	0.02319	T	-4.81	0.80767	D	0.754	0.75283	-1.1443	0.01205	T	0.034	0.14464	T	10	0.9746475	0.97184	D	0.011893	0.29959	T	0.283	0.60100	0.886	0.97130	0.431822907236	0.42802	0.48336268996556775	0.48256	0.119229957646	0.13424	0.533940196037	0.43590	T	0.566285	0.85566	D	-0.204137	0.20211	T	-0.348858	0.39337	T	0.986342370510101	0.77086	D	0.928607	0.73726	D	0.7997627	0.83890	0.6881103	0.81654	0.7997627	0.83892	0.6881103	0.81655	-9.303	0.69626	D	.	.	0.411	0.60161	A	.	.	3.379004	0.46730	22.3	0.99140457639146418	0.53518	0.87262	0.46748	D	AEFBCI	0.766355	0.70256	D	0.555535427640337	0.70419	5.498865	0.419344285651281	0.62771	4.498227	0.999999913088984	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	5.11	4.27	0.50009	7.143000	0.76935	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.098000	0.18187	0.0858:0.0:0.9142:0.0	12.094	0.53044	946	0.12043	Sulfotransferase 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	1729.81	36	chr4	69727170	.	G	T	1729.81	.	AC=2;AF=0.053;AN=38;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.45;SOR=1.262	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1757,165,0	18	1	0	0
chr4	71472944	71472944	C	T	exonic	SLC4A4	.	nonsynonymous SNV	SLC4A4:NM_003759:exon11:c.C1745T:p.S582F,SLC4A4:NM_001098484:exon14:c.C1877T:p.S626F,SLC4A4:NM_001134742:exon14:c.C1877T:p.S626F	Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.100075144508	.	.	2.483e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs753686491	8.898e-06	8.893e-06	2.724e-06	1.513e-05	0.0002	4.97e-06	3.83e-06	8.889e-05	7.056e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.28772	T	0.114	0.41742	T	0.158	0.46109	B	0.389	0.51475	B	0.050535	0.23062	N	0.532328	0.997074	0.43612	D	1.92	0.51302	L	-1.3	0.79571	T	-2.47	0.62343	N	0.438	0.52740	-0.0994	0.80111	T	0.503	0.81256	D	10	0.42635453	0.57199	T	0.100075	0.77213	D	0.510	0.78971	0.499	0.58991	0.407223025684	0.40337	0.821706967644927	0.82127	0.970064706875	0.73332	0.403238832951	0.25520	T	0.586525	0.86540	D	-0.16973	0.25276	T	-0.221903	0.52553	T	0.340146839618683	0.26630	T	0.790621	0.47330	T	0.1656491	0.36851	0.1544231	0.36243	0.1656491	0.36850	0.1544231	0.36243	-8.217	0.62694	D	.	.	0.231	0.46596	B	.;.;.;.;.;.	.;.;.;.;.;.	3.273173	0.44819	22.0	0.98475333415690169	0.41907	0.94260	0.60603	D	AEFGBI	0.617228	0.60349	D	0.0599936391064415	0.44602	2.731355	0.137922232799092	0.46506	2.895445	0.999998918036856	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.44	4.6	0.56512	1.950000	0.39948	2.245000	0.31642	-0.182000	0.10109	0.999000	0.42656	1.000000	0.68203	0.958000	0.51230	0.0:0.7877:0.139:0.0733	9.855	0.40248	628	0.65206	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	6932.81	34	chr4	71472944	.	C	T	6932.81	.	AC=2;AF=0.053;AN=38;DP=843;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.51;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,220:220:99:6960,660,0	18	1	0	0
chr4	74755955	74755955	C	T	exonic	BTC	.	nonsynonymous SNV	BTC:NM_001316963:exon3:c.G185A:p.R62Q,BTC:NM_001729:exon3:c.G185A:p.R62Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00548955718424	7.7e-05	0.000199681	0.0002	0	8.637e-05	0	0	0.0001	0.0011	0.0013	0.0002393	37	154602	rs375367986	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	2.987e-05	6.708e-05	0	0	0	0.0007	0.0001	0.0002	0.0016	0.0001	0.0001	0.0001	0.0001	0.0008	8.664e-05	7.256e-05	0.0003	0.0002	0.0001	0	0	0	0.0004	0	0	0.0001	0	0.0008	0.332	0.13045	T	0.257	0.23231	T	0.954	0.54400	P	0.354	0.42942	B	0.043992	0.23684	N	0.483385	0.999393	0.21260	N	2.425	0.70256	M	2.51	0.14284	T	-0.77	0.21429	N	0.152	0.15609	-1.0252	0.22017	T	0.028	0.11926	T	10	0.01362294	0.00288	T	0.00549	0.14136	T	0.061	0.17616	.	.	0.453307948783	0.44952	0.6590042748871443	0.65837	0.0881398853638	0.09959	0.207825049758	0.00722	T	0.315272	0.68689	T	-0.56798	0.00228	T	-0.629173	0.10477	T	0.0717054978687453	0.08888	T	0.615039	0.23503	T	0.021933636	0.00824	0.03689039	0.03227	0.021933636	0.00824	0.03689039	0.03226	-6.579	0.50892	T	.	.	0.077	0.06250	B	.	.	1.642308	0.20957	14.99	0.97142373516633029	0.32547	0.08293	0.14241	N	AEFBI	0.098215	0.19796	N	-0.517312354216544	0.21519	1.142668	-0.641844425137998	0.18423	0.9840754	0.00169179460130855	0.08790	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.69	1.96	0.25203	0.348000	0.19784	0.499000	0.18978	-0.172000	0.11096	0.002000	0.15269	0.000000	0.08366	0.903000	0.43903	0.1475:0.6263:0.1427:0.0835	5.219	0.14680	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	.	.	.	.	.	.	.	.	0.05263	2348.81	33	chr4	74755955	.	C	T	2348.81	.	AC=2;AF=0.053;AN=38;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.73;SOR=1.003	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2376,237,0	18	1	0	0
chr4	87493913	87493913	T	C	exonic	SPARCL1	.	nonsynonymous SNV	SPARCL1:NM_001291977:exon2:c.A512G:p.Q171R,SPARCL1:NM_004684:exon4:c.A887G:p.Q296R,SPARCL1:NM_001128310:exon5:c.A887G:p.Q296R,SPARCL1:NM_001291976:exon5:c.A512G:p.Q171R	.	426	1092	3	1	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	7.7e-05	0.000998403	0.0016	0.0003	0.0003	0	0	0	0	0.0115	0.0013454	208	154602	rs376243069	0.0006	0.0006	0.0003	0.0010	0.0100	0.0006	0.0006	0.0094	0.0092	2.987e-05	0	0	0	0	0	0	0.0005	0.0100	0.0003	0.0003	0.0001	0.0006	0.0097	0.0003	0.0002	0.0075	0.0067	7.214e-05	0	0	0	0	0	0	0	0	0.0097	0.002	0.72154	D	0.122	0.46632	T	0.89	0.48942	P	0.419	0.45047	B	0.196221	0.16717	N	0.626151	0.999999	0.08975	N	1.59	0.40313	L	2.31	0.26301	T	-0.73	0.25118	N	0.056	0.08786	-1.0610	0.11508	T	0.043	0.18576	T	10	0.003907144	0.00074	T	.	.	.	0.090	0.26093	.	.	0.0482279557977	0.04254	0.06784535613038117	0.06722	0.0860855114199	0.09724	0.242057919502	0.02978	T	0.098672	0.40272	T	-0.648108	0.00074	T	-0.695777	0.06060	T	0.053141136249815	0.06044	T	0.533947	0.17813	T	0.09001135	0.21048	0.09676948	0.23005	0.09001135	0.21048	0.09676948	0.23005	-4.595	0.33705	T	.	.	0.084	0.18289	B	.;.;.	.;.;.	0.852364	0.12243	8.789	0.97088389387188101	0.32311	0.51899	0.29004	D	AEFGI	0.168315	0.29506	N	-0.435156684321954	0.24245	1.307837	-0.515119340327518	0.21742	1.177639	0.354457906381706	0.19716	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.98	0.963	0.18769	1.081000	0.30402	0.416000	0.18166	-0.123000	0.13640	0.996000	0.39380	0.736000	0.26449	0.008000	0.08271	0.0:0.1798:0.1638:0.6563	4.607	0.11774	522	0.74218	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.011364	0.02632	3181.33	37	chr4	87493913	.	T	C	3181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.691;DP=895;ExcessHet=0;FS=2.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.538;SOR=0.901	GT:AD:DP:GQ:PL	0/1:130,123:253:99:3195,0,3490	18	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2637.11	51	chr4	87615398	.	T	*	2637.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.46;DP=671;ExcessHet=1.8686;FS=3.681;InbreedingCoeff=-0.0857;MLEAC=4;MLEAF=0.105;MQ=59.87;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.604;SOR=0.614	GT:AD:DP:GQ:PL	0/1:29,21:50:99:795,0,1125	15	0	4	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:20:99:0|1:87615730_ATAG_A:1741,466,395:87615730	5	3	10	1
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11:20:99:1|1:87615730_ATAG_A:1447,118,0:87615730	1	11	7	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:20:99:0|1:87615730_ATAG_A:1712,444,446:87615730	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	0|1:0,9:20:2:0|1:87615730_ATAG_A:1268,0,2:87615730	7	7	5	0
chr4	87615746	87615746	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:20:2:0|1:87615730_ATAG_A:1268,0,2:87615730	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	0/1:17,11:28:99:.:.:446,0,614:.	2	2	9	6
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	0/1:72,49:121:99:344,0,1145	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	0/1:59,50:109:99:.:.:531,0,836:.	2	0	17	0
chr4	101895362	101895362	T	C	exonic	BANK1	.	nonsynonymous SNV	BANK1:NM_001127507:exon5:c.T562C:p.Y188H,BANK1:NM_001083907:exon6:c.T871C:p.Y291H,BANK1:NM_017935:exon6:c.T961C:p.Y321H	.	460	1060	1	1	0	3	0.00141309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00400466154341	.	0.000199681	0.0002	0	8.857e-05	0	0	0	0	0.0016	0.0001811	28	154602	rs529593590	0.0001	0.0001	6.616e-05	0.0002	0.0017	9.994e-05	9.396e-05	0.0015	0.0014	3.126e-05	2.367e-05	0	0	0	0.0004	8.159e-06	0.0002	0.0017	4.603e-05	4.593e-05	3.861e-05	5.38e-05	0.0010	2.111e-05	1.528e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.948e-05	0	0.0010	0.144	0.32610	T	0.418	0.14771	T	0.004	0.61523	B	0.004	0.73562	B	0.251524	0.15499	N	0.592684	0.98971	0.24263	N	0.69	0.16971	N	3.0	0.16640	T	-1.99	0.47683	N	0.245	0.27673	-1.0307	0.20227	T	0.043	0.18701	T	10	0.03188449	0.01330	T	0.004005	0.09493	T	0.099	0.28413	0.531	0.63855	0.413503789086	0.40968	0.33570930040308095	0.33483	0.0241291910936	0.02450	0.355100005865	0.18671	T	0.096975	0.39933	T	-0.551202	0.00287	T	-0.594619	0.13268	T	0.0949802885746516	0.11796	T	0.734627	0.35895	T	0.0831186	0.19180	0.083685994	0.19197	0.0831186	0.19179	0.083685994	0.19197	-1.135	0.02127	T	.	.	0.119	0.25166	B	.;.;.;.;.	.;.;.;.;.	1.082625	0.14659	11.21	0.99648853918859681	0.77130	0.21141	0.21296	N	AEFGI	0.102444	0.20550	N	-0.429654518349948	0.24435	1.319351	-0.349112125832392	0.26537	1.466393	7.57746817477607E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.94	0.845	0.18089	-0.963000	0.03947	-0.249000	0.10523	0.609000	0.47794	0.773000	0.29391	0.000000	0.08366	0.966000	0.53164	0.1629:0.1916:0.0:0.6455	3.752	0.08094	934	0.15400	.;DBB domain|DBB domain|DBB 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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4454.81	35	chr4	101895362	.	T	C	4454.81	.	AC=2;AF=0.053;AN=38;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.7;SOR=0.834	GT:AD:DP:GQ:PL	1/1:0,150:150:99:4482,450,0	18	1	0	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	0/1:93,42:135:73:73,0,1440	5	0	12	2
chr4	112432000	112432000	G	A	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.G2219A:p.C740Y,ALPK1:NM_001102406:exon11:c.G2453A:p.C818Y,ALPK1:NM_025144:exon11:c.G2453A:p.C818Y	.	431	1090	1	0	0	1	0.000458505	.	.	.	2128877	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.0128251796453	0.0003	0.000199681	9.186e-05	0	0.0003	0	0	0.0001	0	0	0.0001035	16	154602	rs112483372	0.0002	0.0002	0.0002	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0005	0.0003	0.0002	0	0	0.0026	0.0001	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	9.62e-05	0	0.0004	0	0	0	0.0102	0.0002	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.101904	0.02555	N	1.749210	1	0.08975	N	1.245	0.31408	L	4.29	0.02462	T	-0.59	0.19720	N	0.048	0.01999	-0.9300	0.44139	T	0.008	0.02679	T	10	0.030257225	0.01152	T	0.012825	0.31723	T	0.078	0.22779	.	.	0.296679040009	0.29266	.	.	0.149027332707	0.16801	0.203576207161	0.00568	T	0.005322	0.04771	T	-0.595249	0.00156	T	-0.795251	0.02023	T	0.0168151445686817	0.00435	T	0.339366	0.07307	T	0.047092766	0.07991	0.06277159	0.12333	0.047092766	0.07991	0.06277159	0.12332	-4.443	0.30136	T	0.28280122856214185	0.37836	0.092	0.13597	B	.;.;.	.;.;.	-0.049597	0.03954	0.884	0.25909012528438385	0.01216	0.08026	0.14004	N	AEFBI	0.082530	0.16712	N	-1.34040869697903	0.03225	0.143711	-1.34228421361715	0.03897	0.1827534	0.00244408499720687	0.09436	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.62	-0.416	0.11736	0.107000	0.15212	-0.442000	0.09154	-0.761000	0.03509	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2679:0.107:0.5158:0.1094	3.478	0.07158	801	0.44448	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.009511	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	4750.81	66	chr4	112432000	.	G	A	4750.81	.	AC=2;AF=0.053;AN=38;DP=1589;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.05;SOR=0.97	GT:AD:DP:GQ:PL	1/1:0,153:153:99:4778,459,0	18	1	0	0
chr4	128098265	128098265	A	G	exonic	LARP1B	.	nonsynonymous SNV	LARP1B:NM_001350531:exon6:c.A25G:p.I9V,LARP1B:NM_001278604:exon8:c.A748G:p.I250V,LARP1B:NM_018078:exon8:c.A748G:p.I250V,LARP1B:NM_032239:exon8:c.A748G:p.I250V,LARP1B:NM_178043:exon8:c.A748G:p.I250V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00649217933366	0.0002	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs146471609	1.437e-05	1.436e-05	1.77e-05	1.1e-05	0.0003	9.23e-06	7.84e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	3.598e-06	4.968e-05	3.479e-05	7.888e-05	7.881e-05	8.995e-05	6.728e-05	0.0003	4.498e-05	3.513e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.237	0.26629	T	0.513	0.30926	T	0.072	0.23997	B	0.122	0.32387	B	0.000061	0.52346	D	0.123056	0.577198	0.81001	D	0.425	0.12573	N	0.72	0.50976	T	-0.5	0.20145	N	0.179	0.20528	-1.0376	0.18048	T	0.115	0.40831	T	10	0.13647717	0.25966	T	0.006492	0.17100	T	0.076	0.22200	.	.	0.489036454283	0.48535	0.3003858946819377	0.29951	0.143643508487	0.16218	0.431061774492	0.29354	T	0.007807	0.18667	T	-0.357136	0.04294	T	-0.396744	0.33764	T	0.0232422360577159	0.01052	T	0.860314	0.55333	D	0.020693783	0.00637	0.038792413	0.03827	0.020693783	0.00637	0.038792413	0.03827	-4.797	0.46836	T	.	.	0.071	0.09094	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.020278	0.25676	16.85	0.91182346206778198	0.20437	0.83658	0.42761	D	AEFBI	0.217430	0.34255	N	-0.194938259211903	0.33345	1.890707	-0.129893653544198	0.34191	1.964024	9.27277229605784E-4	0.08013	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	4.1	0.47196	2.314000	0.43403	2.405000	0.32612	-0.055000	0.16736	1.000000	0.71638	0.870000	0.27582	0.871000	0.41478	0.7734:0.1502:0.0764:0.0	6.916	0.23542	848	0.35897	La-type HTH domain|La-type HTH domain|La-type HTH domain;La-type HTH domain|La-type HTH domain|La-type HTH domain;La-type HTH domain|La-type HTH domain|La-type HTH domain;.;La-type HTH domain|La-type HTH domain|La-type HTH 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	1130.33	35	chr4	128098265	.	A	G	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.527;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-0.24;SOR=0.737	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1144,0,1339	18	0	1	0
chr4	128884536	128884536	T	C	exonic	SCLT1	.	nonsynonymous SNV	SCLT1:NM_144643:exon21:c.A2008G:p.S670G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00657702484437	.	.	.	.	.	.	.	.	.	.	.	.	.	rs976235764	1.389e-06	1.163e-05	1.385e-06	1.394e-06	9.147e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.147e-07	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.072	0.43344	T	0.849	0.46879	P	0.392	0.44215	B	0.000370	0.45194	D	0.252732	0.992395	0.41633	D	1.155	0.29575	L	0.74	0.50459	T	-1.75	0.41428	N	0.344	0.43029	-1.0265	0.21593	T	0.093	0.35309	T	9	0.23476425	0.40523	T	0.006577	0.17358	T	0.074	0.21613	0.179	0.08626	0.695801595872	0.69317	0.19419958244570984	0.19337	0.367028223889	0.38272	0.61231803894	0.54644	T	0.036288	0.24046	T	-0.0671418	0.41784	T	-0.334221	0.40997	T	0.872503697872162	0.52238	D	0.725927	0.36078	T	0.14101472	0.32510	0.119007714	0.28726	0.14101472	0.32510	0.119007714	0.28725	-5.761	0.44233	T	.	.	0.096	0.20819	B	.;.;.	.;.;.	3.429757	0.47660	22.5	0.98280664634578097	0.39852	0.92185	0.55134	D	AEFBI	0.670702	0.63770	D	0.145825154376261	0.48613	3.071563	0.246728857743297	0.52464	3.420999	0.999752577709691	0.42595	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.73	4.73	0.59485	4.517000	0.60221	3.883000	0.40251	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	12.248	0.53896	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	.	.	.	.	.	.	.	.	0.02632	569.33	35	chr4	128884536	.	T	C	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.321;SOR=0.786	GT:AD:DP:GQ:PL	0/1:35,26:61:99:583,0,771	18	0	1	0
chr4	134200856	134200856	T	C	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.A164G:p.Y55C,PABPC4L:NM_001363585:exon2:c.A164G:p.Y55C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0509376931297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1481470122	2.115e-06	3.42e-06	4.181e-06	0	1.242e-05	5.6e-07	1.6e-07	3.1e-07	1.1e-07	0	0	0	0	0	0	1.835e-06	0	1.242e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999955	0.52396	D	3.18	0.88827	M	2.27	0.17431	T	.	.	.	0.848	0.84401	.	.	.	.	.	.	.	0.83645254	0.82801	D	0.050938	0.64450	D	.	.	.	.	0.596316647014	0.59311	0.8885460742870742	0.88823	.	.	0.700786590576	0.67257	T	0.127623	0.45476	T	0.220846	0.75856	D	0.079453	0.75542	D	.	.	.	0.89771	0.64209	D	0.14524524	0.33303	0.29887694	0.55921	0.14524524	0.33302	0.29887694	0.55921	-8.865	0.66823	D	.	.	0.887	0.81889	P	.	.	4.839504	0.78995	27.0	0.9771880501354222	0.35543	0.81959	0.41263	D	AEFDBCI	0.794195	0.72197	D	.	.	.	.	.	.	0.999999994761567	0.74766	0.608746	0.35421	0	0.573888	0.26702	0	0.731467	0.93227	0	0.554799	0.18163	0	.	.	3.8	3.8	0.42887	6.033000	0.70569	6.045000	0.53046	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	11.197	0.47945	920	0.19381	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2638.33	40	chr4	134200856	.	T	C	2638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.8;DP=1033;ExcessHet=0;FS=9.615;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.761;SOR=0.535	GT:AD:DP:GQ:PL	0/1:99,91:190:99:2652,0,2641	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	0/1:67,40:109:99:.:.:664,0,1996:.	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	0/1:67,44:111:99:.:.:683,0,1976:.	1	0	18	0
chr4	168685513	168685513	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001166109:exon5:c.G143A:p.R48Q,PALLD:NM_001166108:exon6:c.G1289A:p.R430Q,PALLD:NM_016081:exon6:c.G1289A:p.R430Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	133553	not_provided|PALLD-related_disorder|Pancreatic_cancer,_susceptibility_to,_1	MedGen:C3661900|.|MONDO:MONDO:0011739,MedGen:C1847351,OMIM:606856,Orphanet:1333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0929702827713	0.0002	.	0.0003	0	8.637e-05	0	0	0.0001	0.0022	0.0018	0.0003105	48	154602	rs145571230	0.0004	0.0004	0.0003	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	0	2.236e-05	0	2.52e-05	3.747e-05	0.0012	0.0004	0.0002	0.0020	0.0001	0.0001	0.0001	9.419e-05	0.0006	6.514e-05	5.325e-05	0.0002	9.011e-05	2.414e-05	0	0	0	0	9.438e-05	0	0.0002	0	0.0006	0.319	0.23450	T	0.351	0.26798	T	.	.	.	.	.	.	0.021648	0.26791	U	0.000000	0.592046	0.32464	D	0.85	0.21244	L	0.07	0.90147	T	-0.58	0.42384	N	0.174	0.19459	-0.2042	0.77562	T	0.642	0.87493	D	10	0.022705436	0.00574	T	0.09297	0.75988	D	0.154	0.40340	.	.	0.686536311325	0.68385	0.3423466360516373	0.34147	0.265490323693	0.29105	0.337552070618	0.16071	T	0.024891	0.23850	T	-0.290368	0.09600	T	-0.208884	0.53802	T	0.0224750909651064	0.00962	T	0.707729	0.43907	T	.	.	.	.	.	.	.	.	-1.147	0.01453	T	.	.	0.110	0.25100	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.802300	0.54790	23.5	0.99140355699201499	0.53518	0.92922	0.56878	D	AEFGBCI	0.208171	0.33427	N	0.0116171080162301	0.42383	2.552627	0.163453074544534	0.47858	3.009921	0.999999992742033	0.74766	0.638212	0.43195	0	0.48864	0.07623	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	2.700000	0.46753	5.172000	0.47832	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.810000	0.38174	0.153:0.0:0.847:0.0	10.096	0.41651	968	0.07033	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2210.33	36	chr4	168685513	.	G	A	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.497;SOR=0.701	GT:AD:DP:GQ:PL	0/1:95,91:186:99:2224,0,2125	18	0	1	0
chr4	169750647	169750647	T	C	exonic	HPF1	.	nonsynonymous SNV	HPF1:NM_017867:exon3:c.A287G:p.K96R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0180116462461	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs769075626	1.3e-05	1.3e-05	9.53e-06	1.65e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.412	0.14456	T	0.011	0.15914	B	0.025	0.20508	B	0.228534	0.15973	N	0.662510	0.978963	0.25214	N	.	.	.	0.94	0.43672	T	-0.95	0.25332	N	0.165	0.17416	-1.0116	0.26416	T	0.084	0.32929	T	10	0.07988882	0.12903	T	0.018012	0.39926	T	0.034	0.08419	0.307	0.27806	0.266843984389	0.26308	0.3842719445496628	0.38342	0.0427295893604	0.04608	.	.	.	0.009996	0.09062	T	-0.374135	0.03390	T	-0.538527	0.18442	T	0.0797411352396011	0.09954	T	0.390761	0.09705	T	0.06406122	0.13553	0.06866185	0.14367	0.06406122	0.13553	0.06866185	0.14367	-4.971	0.36523	T	.	.	0.071	0.04002	B	.	.	2.405774	0.30914	18.58	0.91512817804916036	0.20788	0.79313	0.39278	D	AEBI	0.126409	0.24334	N	-0.576775473836061	0.19652	1.030181	-0.52485230749125	0.21479	1.162158	0.00162945537644727	0.08719	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	3.81	0.43020	2.755000	0.47219	1.495000	0.26916	0.498000	0.22619	1.000000	0.71638	0.972000	0.29809	0.932000	0.46971	0.0:0.1736:0.0:0.8264	7.852	0.28622	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	762.33	33	chr4	169750647	.	T	C	762.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.144;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-1.228;SOR=0.72	GT:AD:DP:GQ:PL	0/1:42,32:74:99:776,0,1084	18	0	1	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,20:86:99:0|1:176711631_G_C:116,0,2070:176711631	4	0	14	1
chr4	185247310	185247310	A	G	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001378032:exon2:c.A446G:p.N149S,SNX25:NM_001378034:exon2:c.A446G:p.N149S,SNX25:NM_001378035:exon2:c.A446G:p.N149S,SNX25:NM_001378036:exon2:c.A446G:p.N149S,SNX25:NM_001378037:exon2:c.A446G:p.N149S,SNX25:NM_001378038:exon2:c.A446G:p.N149S,SNX25:NM_001378039:exon2:c.A446G:p.N149S,SNX25:NM_001378040:exon2:c.A446G:p.N149S	.	666	824	26	6	0	38	0.0225386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00978435	0.0098	0.0020	0.0026	0	0.0023	0.0077	0.0132	0.0360	0.0093466	1445	154602	rs74883877	0.0096	0.0098	0.0088	0.0105	0.0351	0.0095	0.0095	0.0340	0.0336	0.0013	0.0037	0.0039	0.0001	0.0025	0.0140	0.0090	0.0092	0.0351	0.0062	0.0062	0.0061	0.0064	0.0333	0.0059	0.0057	0.0290	0.0274	0.0014	0	0.0065	0.0026	0.0002	0.0031	0.0136	0.0082	0.0095	0.0333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2711.79	35	chr4	185247310	.	A	G	2711.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.159;DP=823;ExcessHet=0.3672;FS=0.497;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.006;SOR=0.756	GT:AD:DP:GQ:PL	0/1:35,32:67:99:881,0,967	16	0	3	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.1389	276.26	16	chr4	189953101	.	C	T	276.26	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.497;DP=358;ExcessHet=1.3;FS=1.238;InbreedingCoeff=-0.1694;MLEAC=5;MLEAF=0.139;MQ=55.06;MQRankSum=-2.435;QD=3.54;ReadPosRankSum=0.592;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:189953101_C_T:60,0,319:189953101	13	0	5	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	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	307.42	14	chr4	189953126	.	G	T	307.42	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.732;DP=321;ExcessHet=1.3;FS=2.88;InbreedingCoeff=-0.1524;MLEAC=5;MLEAF=0.132;MQ=54.21;MQRankSum=-2.222;QD=4.59;ReadPosRankSum=1.2;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:189953101_C_T:63,0,288:189953101	14	0	5	0
chr5	140476	140476	A	G	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon3:c.A1237G:p.S413G	.	383	1136	3	0	0	3	0.00131868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0033	0.00299521	0.0051	0.0116	0.0106	0	0	0.0061	0.0033	0.0006	0.0019922	308	154602	rs143062800	0.0016	0.0016	0.0016	0.0016	0.0060	0.0015	0.0015	0.0053	0.0051	0.0060	0.0039	0.0288	0	9.847e-05	0.0057	0.0008	0.0039	0.0002	0.0030	0.0031	0.0031	0.0030	0.0056	0.0028	0.0027	0.0050	0.0047	0.0056	0	0.0029	0.0351	0	0	0.0068	0.0008	0.0047	0.0002	0.068	0.35726	T	0.419	0.14158	T	0.544	0.37968	P	0.066	0.27432	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.66	0.27486	T	-0.96	0.25551	N	0.086	0.06322	-1.0482	0.14903	T	0.025	0.10464	T	9	0.0038065016	0.00071	T	.	.	.	0.013	0.01715	.	.	0.112648838833	0.10856	0.2176402654912226	0.21680	0.100555651446	0.11360	0.475374102592	0.35421	T	0.004426	0.03828	T	-0.600691	0.00144	T	-0.632459	0.10229	T	0.00890657518157518	0.00111	T	0.424758	0.11367	T	0.11878953	0.27981	0.09219376	0.21714	0.11878953	0.27981	0.09219376	0.21714	-3.148	0.11855	T	.	.	0.096	0.15296	B	.;.	.;.	0.409739	0.07807	4.498	0.70801806781604371	0.09415	0.01748	0.05510	N	AEFDBI	0.047830	0.08098	N	-0.938724795867216	0.09947	0.4730972	-1.02818233310184	0.09168	0.4546187	0.481095919814702	0.20786	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.27	2.27	0.27501	0.428000	0.21114	0.541000	0.19334	0.559000	0.28343	0.003000	0.16062	0.002000	0.18203	0.060000	0.15972	1.0:0.0:0.0:0.0	6.224	0.19911	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008656	0.036842	0.008219	0.005988	0.050000	0.017241	0.000000	0.000000	0.05263	1491.81	34	chr5	140476	.	A	G	1491.81	.	AC=2;AF=0.053;AN=38;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.84;SOR=0.773	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1519,149,0	18	1	0	0
chr5	143134	143134	G	C	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon4:c.G1565C:p.R522P	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00175855584309	0.0037	0.00299521	0.0024	0.0068	0.0035	0	0	0.0026	0.0011	0.0004	0.0022445	347	154602	rs115149634	0.0016	0.0016	0.0016	0.0016	0.0060	0.0015	0.0015	0.0053	0.0050	0.0060	0.0039	0.0289	0	9.631e-05	0.0057	0.0008	0.0039	0.0002	0.0031	0.0031	0.0031	0.0030	0.0056	0.0028	0.0027	0.0050	0.0048	0.0056	0	0.0029	0.0352	0	0	0.0102	0.0008	0.0047	0.0002	0.18	0.23905	T	0.303	0.37310	T	0.108	0.26116	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.61	0.28391	T	-0.35	0.12847	N	0.065	0.03726	-1.0259	0.21788	T	0.020	0.08407	T	9	0.0036451817	0.00067	T	0.001759	0.02986	T	0.001	0.00016	.	.	0.0401082797425	0.02173	0.21608568095272865	0.21524	0.117984445979	0.13285	0.260768830776	0.04983	T	0.004572	0.04039	T	-0.655887	0.00067	T	-0.711745	0.05205	T	0.000639064392452799	0.00006	T	0.337566	0.07230	T	0.07227973	0.16068	0.058776293	0.10921	0.07227973	0.16067	0.058776293	0.10920	-1.586	0.01949	T	.	.	0.102	0.20117	B	.;.;.	.;.;.	0.173028	0.05618	2.070	0.51417979575912098	0.04559	0.02399	0.06799	N	AEFGBCI	0.101684	0.20418	N	-1.75728638007804	0.00658	0.02839908	-1.80681168199537	0.00738	0.03287528	0.42210618262882	0.20300	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	2.85	-2.41	0.06184	-0.148000	0.10203	2.035000	0.30272	-0.957000	0.01998	0.000000	0.06391	0.047000	0.21741	0.002000	0.04165	0.5216:0.1755:0.1302:0.1728	1.154	0.01681	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	0.008560	0.035354	0.008152	0.005848	0.050000	0.008621	0.003049	0.000000	0.05263	3677.81	33	chr5	143134	.	G	C	3677.81	.	AC=2;AF=0.053;AN=38;DP=980;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.4;SOR=0.928	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3705,363,0	18	1	0	0
chr5	31538262	31538262	T	C	exonic	C5orf22	.	nonsynonymous SNV	C5orf22:NM_018356:exon4:c.T380C:p.V127A	.	442	1071	9	0	0	9	0.0041841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.0506532561962	0.0025	0.00119808	0.0025	0.0004	0.0018	0	0.0033	0.0035	0.0012	0.0011	0.0022898	354	154602	rs34357988	0.0027	0.0027	0.0026	0.0027	0.0056	0.0026	0.0026	0.0041	0.0035	0.0007	0.0016	0.0067	0	0.0032	0.0056	0.0028	0.0032	0.0012	0.0023	0.0023	0.0021	0.0024	0.0031	0.0021	0.0020	0.0028	0.0027	0.0005	0.0011	0.0025	0.0078	0	0.0023	0.0102	0.0031	0.0033	0.0017	0.015	0.52492	D	0.045	0.49390	D	0.977	0.58535	D	0.752	0.56092	P	0.000001	0.84330	D	0.054075	1	0.81001	D	3.135	0.88152	M	0.62	0.53302	T	-2.93	0.61284	D	0.802	0.79792	-0.4095	0.71726	T	0.284	0.65626	T	10	0.02188316	0.00533	T	0.050653	0.64333	D	0.439	0.74306	.	.	0.76561432741	0.76347	0.7005987067401199	0.70000	0.510346477881	0.49151	.	.	.	0.146386	0.48397	T	-0.0669081	0.41820	T	0.132068	0.79027	D	0.0262478868912305	0.01440	T	0.79772	0.44184	T	0.32043082	0.54676	0.36911604	0.62188	0.32043082	0.54676	0.36911604	0.62188	-8.998	0.67685	D	.	.	0.730	0.74198	P	.	.	4.571090	0.72120	25.8	0.99870606915433413	0.94815	0.98889	0.88212	D	AEFGBI	0.891944	0.82840	D	0.803151385449374	0.86304	8.842094	0.798602460115176	0.89696	10.083	0.999999999999284	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.428000	0.79479	7.638000	0.63056	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.494	0.84067	757	0.50970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.006793	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	543.33	42	chr5	31538262	.	T	C	543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.936;SOR=0.906	GT:AD:DP:GQ:PL	0/1:25,19:44:99:557,0,715	18	0	1	0
chr5	35988487	35988487	C	-	exonic	UGT3A1	.	frameshift deletion	UGT3A1:NM_152404:exon2:c.159delG:p.T54Lfs*10	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.084e-05	0	0.0002	0	0	1.501e-05	0	0.0005	7.12e-05	11	154602	rs757866159	5.205e-05	5.336e-05	3.543e-05	6.884e-05	0.0012	4.263e-05	3.892e-05	0.0006	0.0004	0	0.0002	0	0	0	0.0012	1.53e-05	0.0002	0.0004	3.287e-05	3.284e-05	3.855e-05	2.692e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	0	0	6.549e-05	0	0	0	0	2.94e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1391.29	37	chr5	35988486	.	TC	T	1391.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.804;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.041;SOR=0.749	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1405,0,1038	18	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	434.77	112	chr5	36976312	.	G	C	434.77	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.913;DP=2363;ExcessHet=0.7564;FS=233.054;InbreedingCoeff=-0.3099;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=1.42;SOR=10.893	GT:AD:DP:GQ:PL	0/1:114,33:152:16:16,0,2361	5	0	4	10
chr5	55941604	55941604	A	C	exonic	IL6ST	.	nonsynonymous SNV	IL6ST:NM_001364279:exon15:c.T1239G:p.D413E,IL6ST:NM_001190981:exon16:c.T2052G:p.D684E,IL6ST:NM_001364275:exon16:c.T2133G:p.D711E,IL6ST:NM_001364278:exon16:c.T1332G:p.D444E,IL6ST:NM_001364276:exon17:c.T2025G:p.D675E,IL6ST:NM_001364277:exon17:c.T1368G:p.D456E,IL6ST:NM_002184:exon17:c.T2235G:p.D745E	.	431	1081	10	0	0	10	0.00460405	.	.	.	1136937	IL6ST-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.0118818533168	0.0050	0.000998403	0.0029	0.0008	0.0034	0	0.0012	0.0034	0.0044	0.0036	0.0027878	431	154602	rs61755738	0.0042	0.0042	0.0042	0.0042	0.0047	0.0041	0.0041	0.0046	0.0046	0.0007	0.0032	0.0019	2.519e-05	0.0011	0.0019	0.0047	0.0041	0.0038	0.0024	0.0024	0.0025	0.0023	0.0039	0.0022	0.0021	0.0035	0.0034	0.0009	0	0.0025	0.0009	0	0.0007	0.0034	0.0039	0.0028	0.0021	0.345	0.17353	T	0.212	0.26549	T	0.525	0.37610	P	0.129	0.32841	B	0.003931	0.34318	N	0.352841	0.999099	0.81001	D	1.325	0.33218	L	1.32	0.39401	T	-1.01	0.26639	N	0.045	0.12198	-1.0712	0.09151	T	0.028	0.11882	T	10	0.006159216	0.00139	T	0.011882	0.29939	T	0.068	0.19811	0.139	0.04277	0.625713890362	0.62266	0.2598649425074459	0.25900	0.122682330703	0.13825	0.577899098396	0.49789	T	0.18645	0.53974	T	-0.608163	0.00130	T	-0.642356	0.09498	T	0.00898770000141586	0.00112	T	0.669833	0.27843	T	0.028226212	0.02129	0.026739433	0.00781	0.028226212	0.02129	0.026739433	0.00780	-1.527	0.01979	T	.	.	0.081	0.25265	B	.;.;.;.	.;.;.;.	1.694308	0.21587	15.26	0.98082082334462573	0.38117	0.81893	0.41208	D	AEFGBI	0.293698	0.40426	N	-0.463917804080909	0.23270	1.248455	-0.3801410284856	0.25589	1.408195	0.997645607726979	0.35855	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.4	-1.22	0.09005	0.236000	0.17745	0.555000	0.19457	0.750000	0.87069	0.963000	0.33788	0.931000	0.28545	0.999000	0.91618	0.4815:0.227:0.1866:0.1049	1.990	0.03235	834	0.38640	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	3739.33	34	chr5	55941604	.	A	C	3739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.642;DP=900;ExcessHet=0;FS=0.936;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0.156;QD=14.11;ReadPosRankSum=0.116;SOR=0.756	GT:AD:DP:GQ:PL	0/1:118,147:265:99:3753,0,2933	18	0	1	0
chr5	56916860	56916862	AGG	-	exonic	SETD9	.	nonframeshift deletion	SETD9:NM_001323018:exon6:c.780_782del:p.G261del,SETD9:NM_001323022:exon6:c.402_404del:p.G135del,SETD9:NM_153706:exon6:c.858_860del:p.G287del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	9.07e-05	9.623e-05	8.655e-05	0	0	0	0.0011	0.0005	7.12e-05	11	154602	rs753882883	4.533e-05	4.925e-05	2.596e-05	6.493e-05	0.0006	3.656e-05	3.335e-05	0.0005	0.0005	0	4.587e-05	0	0.0001	0	0	2.703e-06	4.982e-05	0.0006	3.283e-05	3.281e-05	3.854e-05	2.686e-05	0.0006	1.26e-05	7.97e-06	0.0002	9e-05	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2530.29	40	chr5	56916859	.	AAGG	A	2530.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.306;DP=903;ExcessHet=0;FS=1.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=2.37;SOR=0.642	GT:AD:DP:GQ:PL	0/1:94,68:162:99:2544,0,3691	18	0	1	0
chr5	73123819	73123819	A	T	exonic	TMEM171	.	nonsynonymous SNV	TMEM171:NM_001161342:exon2:c.A446T:p.D149V,TMEM171:NM_173490:exon2:c.A446T:p.D149V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0103648505905	.	0.000199681	0.0001	0	0	0.0015	0	1.503e-05	0	0	0.0001164	18	154602	rs200969145	0.0002	0.0002	0.0002	0.0001	0.0054	0.0001	0.0001	0.0048	0.0046	0	0	0	0.0054	0	0	3.6e-06	3.316e-05	0	5.909e-05	6.562e-05	6.426e-05	5.37e-05	0.0017	3.075e-05	2.209e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0	0	0.057	0.37966	T	0.295	0.20811	T	0.114	0.26387	B	0.032	0.22131	B	0.424952	0.12823	N	0.742624	1	0.08975	N	1.775	0.45938	L	1.74	0.26301	T	-4.93	0.81755	D	0.261	0.30687	-1.0678	0.09903	T	0.035	0.15291	T	10	0.016228646	0.00342	T	0.010365	0.26807	T	0.113	0.31778	.	.	0.20549828249	0.20151	0.32281404864750124	0.32194	0.447635886102	0.44616	0.318991005421	0.13267	T	0.031947	0.22272	T	-0.469135	0.00861	T	-0.48719	0.23684	T	0.0826696094413506	0.10326	T	0.772623	0.40374	T	0.2284107	0.45560	0.23417969	0.48628	0.2284107	0.45560	0.23417969	0.48627	-2.4	0.05333	T	.	.	0.178	0.38800	B	.;.	.;.	2.281518	0.29170	18.04	0.97604811596683427	0.34870	0.04831	0.10559	N	AEFDGBI	0.078083	0.15746	N	-0.687883262752724	0.16366	0.8331768	-0.655826171183487	0.18070	0.9636772	0.999998353315915	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.35	4.17	0.48303	0.858000	0.27500	6.871000	0.56788	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.031000	0.13245	0.7165:0.0:0.1422:0.1413	5.120	0.14186	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1800.33	39	chr5	73123819	.	A	T	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.588;DP=824;ExcessHet=0;FS=1.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.424;SOR=0.572	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1814,0,1580	18	0	1	0
chr5	76875477	76875477	C	G	exonic	S100Z	.	nonsynonymous SNV	S100Z:NM_130772:exon3:c.C118G:p.R40G	.	427	1079	16	0	0	16	0.00735971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00699134132628	.	0.000599042	0.0007	0.0002	0.0004	0	0	0.0004	0.0011	0.0029	0.0005563	86	154602	rs148288662	0.0004	0.0004	0.0002	0.0005	0.0047	0.0003	0.0003	0.0033	0.0029	3e-05	0.0005	0	0	0	0.0047	0.0002	0.0007	0.0029	0.0003	0.0003	0.0003	0.0002	0.0031	0.0002	0.0002	0.0019	0.0016	4.836e-05	0	0.0004	0	0.0002	0	0	0.0003	0	0.0031	0.195	0.20759	T	0.178	0.29639	T	0.001	0.07471	B	0.004	0.10090	B	0.000947	0.40932	D	0.292079	0.91744	0.27371	N	.	.	.	2.88	0.10291	T	-1.13	0.29114	N	0.206	0.22870	-1.0425	0.16562	T	0.020	0.08500	T	9	0.0090922415	0.00206	T	0.006991	0.18513	T	0.028	0.06331	0.455	0.51938	0.0401082797425	0.02173	0.23419647790370043	0.23334	0.0914821395109	0.10332	0.234789639711	0.02341	T	0.014484	0.12323	T	-0.533223	0.00368	T	-0.543329	0.17970	T	0.0190263335343904	0.00611	T	0.612939	0.23352	T	0.44941223	0.64003	0.14536168	0.34478	0.44941223	0.64004	0.14536168	0.34477	-3.78	0.20506	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	0.934844	0.13100	9.605	0.97444762284793562	0.33997	0.86350	0.45613	D	ALL	0.594732	0.58956	D	-0.312003994383482	0.28691	1.584653	-0.224416666003622	0.30664	1.728445	0.999999897038449	0.74766	0.497415	0.19182	0	0.405561	0.06353	1	0.503968	0.08637	0	0.542086	0.14980	0	.	.	5.73	2.65	0.30588	2.299000	0.43271	-1.161000	0.06152	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.355000	0.25773	0.5131:0.4022:0.0:0.0848	7.559	0.27007	844	0.36711	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1438.33	39	chr5	76875477	.	C	G	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.17;DP=837;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.652;SOR=0.723	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1452,0,1515	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	0/1:37,48:85:99:1806,0,1320	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	0/1:37,48:85:99:1806,0,1320	9	1	8	1
chr5	96886733	96886733	G	A	exonic	ERAP2	.	nonsynonymous SNV	ERAP2:NM_001130140:exon4:c.G793A:p.A265T,ERAP2:NM_001329233:exon4:c.G793A:p.A265T,ERAP2:NM_022350:exon4:c.G793A:p.A265T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0661784874941	.	.	0.0001	0	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs781362542	2.88e-05	3.625e-05	1.424e-05	4.369e-05	0.0005	2.171e-05	1.911e-05	0.0004	0.0003	0	4.674e-05	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.986	0.76916	D	0.000001	0.84330	D	0.000000	0.98131	0.81001	D	3.34	0.90961	M	2.96	0.09542	T	-3.68	0.71882	D	0.766	0.76388	-0.6534	0.62565	T	0.142	0.46312	T	10	0.80554307	0.79898	D	0.066178	0.69800	D	0.343	0.66488	0.874	0.96529	0.42886291518	0.42503	0.7827415364392727	0.78225	0.31929760964	0.34132	0.485381662846	0.36799	T	0.124245	0.44915	T	-0.193119	0.21802	T	-0.146429	0.59559	T	0.927268326282501	0.59002	D	0.966703	0.98839	D	0.9414737	0.95397	0.87901133	0.93493	0.9414737	0.95398	0.87901133	0.93493	-12.351	0.86518	D	.	.	0.286	0.61679	B	.;.;.	.;.;.	4.435853	0.68827	25.3	0.99902629960886691	0.97426	0.97602	0.75831	D	AEFBI	0.523383	0.54700	D	0.947171694191729	0.93871	12.33628	0.853866850634885	0.93241	11.91377	0.999999999998068	0.74766	0.538715	0.22204	0	0.633563	0.54681	0	0.573888	0.23631	0	0.528226	0.09195	0	.	.	5.1	5.1	0.68917	6.924000	0.75641	7.957000	0.75973	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.789	0.78103	884	0.28482	Peptidase M1, membrane alanine aminopeptidase, N-terminal;Peptidase M1, membrane alanine aminopeptidase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1759.33	34	chr5	96886733	.	G	A	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.283;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-2.593;SOR=0.651	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1773,0,1512	18	0	1	0
chr5	103028961	103028961	C	T	exonic	PAM	.	nonsynonymous SNV	PAM:NM_138822:exon23:c.C2560T:p.R854W,PAM:NM_001364589:exon24:c.C2443T:p.R815W,PAM:NM_001364593:exon24:c.C2296T:p.R766W,PAM:NM_001364594:exon24:c.C2293T:p.R765W,PAM:NM_138766:exon24:c.C2614T:p.R872W,PAM:NM_138821:exon24:c.C2497T:p.R833W,PAM:NM_000919:exon25:c.C2821T:p.R941W,PAM:NM_001177306:exon25:c.C2818T:p.R940W,PAM:NM_001364582:exon25:c.C2764T:p.R922W,PAM:NM_001364585:exon25:c.C2617T:p.R873W,PAM:NM_001364586:exon25:c.C2500T:p.R834W,PAM:NM_001364587:exon25:c.C2497T:p.R833W,PAM:NM_001364588:exon25:c.C2494T:p.R832W,PAM:NM_001364591:exon25:c.C2350T:p.R784W,PAM:NM_001364592:exon25:c.C2347T:p.R783W,PAM:NM_001364583:exon26:c.C2818T:p.R940W,PAM:NM_001364584:exon26:c.C2815T:p.R939W,PAM:NM_001364590:exon26:c.C2389T:p.R797W,PAM:NM_001319943:exon27:c.C2872T:p.R958W	.	.	.	.	.	.	.	.	.	.	.	2217085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0555539965681	.	.	2.474e-05	0	0	0	0	4.501e-05	0	0	1.94e-05	3	154602	rs777006635	2.669e-05	2.668e-05	3.541e-05	1.788e-05	0.0017	1.998e-05	1.755e-05	0.0009	0.0007	2.991e-05	0	0	0	0	0.0017	2.069e-05	8.282e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.47e-05	2.19e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.987	0.84481	D	0.000006	0.62929	D	0.111743	0.999999	0.81001	D	1.845	0.48678	L	0.64	0.58176	T	-3.84	0.74980	D	0.421	0.62696	-0.3166	0.74517	T	0.371	0.73046	T	10	0.46924162	0.59760	T	0.055554	0.66278	D	0.253	0.56294	0.378	0.39319	0.787187582236	0.78522	0.39551025166758275	0.39466	0.666378914637	0.59194	0.702795922756	0.67548	T	0.690991	0.91015	D	0.0302308	0.55754	T	-0.178866	0.56629	T	0.944860756397247	0.62147	D	0.989401	0.97264	D	0.28690457	0.51704	0.32635757	0.58543	0.28690457	0.51703	0.32635757	0.58542	-12.814	0.88837	D	.	.	0.429	0.61156	A	.;.;.;.;.	.;.;.;.;.	6.066576	0.94479	34	0.99925471703183477	0.99042	0.95834	0.66353	D	AEFBI	0.884855	0.81488	D	0.678472175096903	0.78221	6.828235	0.715809974484011	0.83578	8.058909	0.999999996795581	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.367000	0.59270	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.14:0.86:0.0:0.0	15.293	0.73582	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	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1136.33	43	chr5	103028961	.	C	T	1136.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=805;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-0.022;SOR=0.882	GT:AD:DP:GQ:PL	0/1:72,46:118:99:1150,0,1742	18	0	1	0
chr5	126465474	126465474	G	A	exonic	GRAMD2B	.	nonsynonymous SNV	GRAMD2B:NM_001146321:exon2:c.G113A:p.R38H,GRAMD2B:NM_001349544:exon2:c.G113A:p.R38H	.	440	1080	2	0	0	2	0.000925069	.	.	.	4138725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.00700055482007	.	.	9.884e-05	0	0	0	0	2.997e-05	0	0.0006	7.76e-05	12	154602	rs751082479	6.362e-05	6.362e-05	4.22e-05	8.525e-05	0.0008	5.294e-05	4.911e-05	0.0006	0.0006	2.987e-05	0	0	2.519e-05	0	0.0005	1.709e-05	4.967e-05	0.0008	2.63e-05	2.627e-05	2.571e-05	2.692e-05	0.0006	8.15e-06	5.14e-06	0.0002	9.007e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	0.0	0.91255	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	0.954612	0.43714	D	.	.	.	1.41	0.33412	T	0.27	0.04306	N	0.11	0.09631	-1.0749	0.08369	T	0.049	0.20750	T	8	0.021770895	0.00528	T	0.007001	0.18541	T	0.121	0.33580	0.243	0.17677	0.275215494804	0.27121	.	.	.	.	.	.	.	.	.	.	-0.368692	0.03661	T	-0.391532	0.34372	T	0.0346264006206574	0.02744	T	0.523848	0.17156	T	.	.	.	.	.	.	.	.	-4.215	0.26968	T	.	.	0.115	0.23005	B	.	.	0.405263	0.07765	4.448	0.99855325235472614	0.93458	0.02158	0.06340	N	AEFBI	0.043333	0.06838	N	-0.643191386247719	0.17659	0.9105684	-0.635852675505821	0.18574	0.9928575	0.989458355535963	0.31831	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.82	-0.926	0.09923	-0.590000	0.05854	-4.471000	0.02139	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.984000	0.60418	0.4621:0.1782:0.3597:0.0	4.182	0.09842	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1272.33	34	chr5	126465474	.	G	A	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.753;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.262;SOR=0.724	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1286,0,1360	18	0	1	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	0/1:16,19:35:99:661,0,608	17	0	2	0
chr5	132814474	132814474	G	C	exonic	SOWAHA	.	nonsynonymous SNV	SOWAHA:NM_175873:exon1:c.G853C:p.G285R	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.103854082577	.	.	0.0001	0	0	0	.	0.0006	0	0	6.5e-06	1	154602	rs770191684	1.316e-05	1.231e-05	4.579e-06	2.2e-05	0.0005	8.02e-06	6.56e-06	9.985e-05	7.824e-05	0	0	0	0	0	0.0005	0	5.635e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.077	0.42436	T	.	.	.	.	.	.	0.782626	0.09459	N	0.893281	0.999941	0.19238	N	.	.	.	2.15	0.19311	T	-4.09	0.74821	D	0.483	0.51761	-1.0044	0.28636	T	0.036	0.15596	T	10	0.1383349	0.26309	T	0.103854	0.77812	D	0.039	0.10176	0.342	0.33464	0.357313475932	0.35345	0.5230898246294565	0.52232	.	.	0.89601701498	0.95986	D	.	.	.	-0.350901	0.04670	T	-0.451679	0.27511	T	0.490314245223999	0.32276	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.61398	A	.	.	3.916111	0.57146	23.8	0.99803990974119361	0.88817	0.21026	0.21254	N	AEFDBCI	0.221208	0.34586	N	-0.643209901705143	0.17659	0.9105368	-0.571794347075429	0.20230	1.088958	0.998652492733124	0.37392	0.623204	0.39778	0	0.475579	0.06741	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	4.2	3.32	0.37134	1.662000	0.37035	6.800000	0.56625	0.497000	0.22564	0.869000	0.30776	1.000000	0.68203	0.877000	0.41881	0.3066:0.0:0.6934:0.0	6.309	0.20360	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	432.33	45	chr5	132814474	.	G	C	432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.276;DP=746;ExcessHet=0;FS=7.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.45;ReadPosRankSum=1.18;SOR=0.191	GT:AD:DP:GQ:PL	0/1:35,23:58:99:446,0,880	18	0	1	0
chr5	134682375	134682375	C	T	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon9:c.C1384T:p.P462S,SEC24A:NM_021982:exon9:c.C1384T:p.P462S	.	447	1072	3	0	0	3	0.0013973	.	.	.	2761243	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.859	0.0736166386824	0.0003	.	0.0002	0.0001	0	0	0	0.0003	0.0011	0.0004	0.000207	32	154602	rs201167267	0.0001	0.0001	0.0001	0.0002	0.0041	0.0001	0.0001	0.0028	0.0024	0.0001	0.0002	3.921e-05	0	0	0.0041	0.0001	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.713e-05	0.0001	0.0001	2.413e-05	0	0.0003	0	0	0	0	0.0002	0.0010	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.999	0.77913	D	0.988	0.77976	D	0.000077	0.52346	D	0.208505	1	0.81001	D	3.335	0.90898	M	-1.75	0.83495	D	-7.08	0.94300	D	0.903	0.90704	0.733	0.93579	D	0.788	0.92800	D	10	0.887833	0.88117	D	0.073617	0.71836	D	0.859	0.95691	.	.	0.980752625258	0.98054	0.7479506015366877	0.74741	0.483403447273	0.47295	0.859403073788	0.91023	D	0.397512	0.75586	T	0.170279	0.71150	D	0.369851	0.91066	D	0.803611874580383	0.46601	D	0.989101	0.96624	D	0.7655715	0.81783	0.6527588	0.79678	0.7655715	0.81785	0.6527588	0.79679	-12.43	0.89181	D	.	.	0.973	0.89938	P	.;.	.;.	5.151578	0.86283	28.9	0.99901514917106105	0.97350	0.98744	0.86296	D	AEFGBI	0.865773	0.78499	D	0.961365161388997	0.94425	12.74851	0.912084555887785	0.96077	14.27787	0.999999999989999	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	5.71	0.89031	7.776000	0.84252	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.849	0.96730	608	0.67185	Zinc finger, Sec23/Sec24-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	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1696.33	34	chr5	134682375	.	C	T	1696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.293;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.704;SOR=0.653	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1710,0,1233	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	0/1:144,43:202:99:.:.:755,0,3398:.	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	0/1:158,40:198:99:.:.:147,0,5409:.	1	0	18	0
chr5	141649896	141649896	A	G	exonic	FCHSD1	.	nonsynonymous SNV	FCHSD1:NM_033449:exon4:c.T224C:p.M75T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00731016105312	0.0005	.	0.0003	0	0	0	0	0.0007	0	0	8.41e-05	13	154602	rs376137825	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0	0	0.0003	0	0.0004	0.0002	0.0002	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.246e-05	0.0002	0.0002	0	0	6.545e-05	0.0003	0	9.423e-05	0	0.0003	0	0	0.589	0.06184	T	0.58	0.08685	T	0.0	0.02946	B	0.001	0.04355	B	0.210881	0.03386	N	1.623940	0.999217	0.81001	N	-0.805	0.01590	N	2.71	0.12268	T	-0.37	0.13226	N	0.078	0.10198	-1.0298	0.20519	T	0.035	0.14943	T	10	0.018226802	0.00395	T	0.00731	0.19388	T	0.058	0.16647	.	.	0.239305524855	0.23518	0.06446317629515821	0.06385	0.168144324308	0.18958	0.450512528419	0.32014	T	0.002681	0.02075	T	-0.630241	0.00095	T	-0.761106	0.03073	T	0.0273991060218755	0.01602	T	0.421058	0.11199	T	0.039840627	0.05576	0.049900528	0.07721	0.039840627	0.05576	0.049900528	0.07720	-2.008	0.03211	T	.	.	0.078	0.08033	B	.;.;.	.;.;.	1.176902	0.15673	12.02	0.95759724234451371	0.27746	0.13290	0.17772	N	AEFDBI	0.048902	0.08393	N	-0.901397393555502	0.10809	0.5184056	-0.709412583604002	0.16726	0.8861902	0.998747334774602	0.37581	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	4.97	1.1	0.19578	0.604000	0.23862	.	.	0.741000	0.86335	0.048000	0.21332	0.373000	0.24578	0.302000	0.24547	0.6301:0.0:0.3699:0.0	7.245	0.25292	779	0.47767	FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH domain;FCH domain|F-BAR domain|FCH 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	805.33	37	chr5	141649896	.	A	G	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.799;DP=809;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=-0.853;SOR=0.777	GT:AD:DP:GQ:PL	0/1:102,44:146:99:819,0,2649	18	0	1	0
chr5	149609689	149609689	C	T	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon4:c.C452T:p.A151V	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0142000512025	.	.	0.0003	0	0.0002	0	0	0.0002	0	0.0013	0.0002329	36	154602	rs367808249	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0001	0.0012	0.0011	2.992e-05	4.472e-05	0	7.557e-05	0	0.0014	9.083e-05	0.0002	0.0014	9.191e-05	9.186e-05	3.853e-05	0.0001	0.0004	5.523e-05	4.361e-05	7.299e-05	4.239e-05	0	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	0.015	0.52492	D	0.024	0.56640	D	0.88	0.48402	P	0.435	0.45529	B	0.031724	0.25127	N	0.452160	0.999999	0.08975	N	1.995	0.54099	M	1.57	0.29342	T	-2.16	0.48850	N	0.43	0.46928	-1.0542	0.13251	T	0.081	0.31972	T	10	0.055144966	0.05980	T	0.014	0.34156	T	0.140	0.37593	.	.	0.233785782151	0.22967	0.21107730719980253	0.21023	0.328092043764	0.34932	0.374087542295	0.21415	T	0.009603	0.08738	T	-0.483774	0.00703	T	-0.497764	0.22580	T	0.0778579129934393	0.09711	T	0.744825	0.36507	T	0.067971	0.14768	0.06867627	0.14374	0.067971	0.14768	0.06867627	0.14374	-6.906	0.53343	T	.	.	0.098	0.16319	B	.	.	1.770497	0.22515	15.65	0.99824931573491249	0.90764	0.72665	0.35560	D	AEFBI	0.192722	0.31987	N	-0.287230857891508	0.29640	1.645535	-0.373906585824855	0.25778	1.419691	0.999996875180792	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	5.5	3.71	0.41733	3.303000	0.51565	2.058000	0.30379	-0.817000	0.03001	0.874000	0.30870	0.968000	0.29604	0.001000	0.02609	0.1464:0.7793:0.0:0.0743	9.036	0.35449	799	0.44747	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1089.33	57	chr5	149609689	.	C	T	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=804;ExcessHet=0;FS=3.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.191;SOR=0.368	GT:AD:DP:GQ:PL	0/1:27,42:69:99:1103,0,611	18	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.1053	3729.43	42	chr5	149621740	.	G	A	3729.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.22;DP=873;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.199;SOR=0.668	GT:AD:DP:GQ:PL	0/1:41,33:74:99:742,0,1071	15	0	4	0
chr5	149830813	149830813	A	G	exonic	PPARGC1B	.	nonsynonymous SNV	PPARGC1B:NM_133263:exon4:c.A512G:p.D171G	.	.	.	.	.	.	.	.	.	.	.	3370070	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0130960243831	7.7e-05	.	0.0001	9.61e-05	8.637e-05	0	0	0.0001	0.0011	6.057e-05	9.06e-05	14	154602	rs147369640	9.508e-05	9.508e-05	8.576e-05	0.0001	0.0002	8.201e-05	7.716e-05	9.556e-05	8.933e-05	2.987e-05	4.472e-05	3.826e-05	0	0	0.0002	0.0001	6.623e-05	6.956e-05	7.887e-05	7.881e-05	0.0001	5.382e-05	0.0002	4.498e-05	3.513e-05	9.049e-05	7.013e-05	0	0	0	0	0	0	0	0.0002	0.0005	0	0.012	0.54683	D	0.053	0.47336	T	0.976	0.73220	D	0.675	0.59072	P	0.002199	0.37053	N	0.251802	0.999337	0.81001	D	2.52	0.73523	M	3.04	0.08810	T	-1.98	0.45769	N	0.175	0.21839	-1.1846	0.00306	T	0.054	0.22731	T	10	0.21003586	0.37385	T	0.013096	0.32235	T	0.165	0.42395	.	.	0.403424677067	0.39955	0.18513379372472138	0.18431	0.669303631781	0.59337	0.441526293755	0.30785	T	0.272801	0.64521	T	-0.233538	0.16184	T	-0.357903	0.38295	T	0.545526564121246	0.34310	D	0.769823	0.39947	T	0.19758883	0.41629	0.22997223	0.48085	0.19758883	0.41629	0.22997223	0.48084	-2.431	0.05326	T	.	.	0.137	0.37558	B	.;.	.;.	4.123565	0.61658	24.4	0.99798160172384975	0.88283	0.96496	0.69429	D	AEFDBI	0.607323	0.59733	D	0.502814364625602	0.67256	5.057423	0.480591250473762	0.66706	4.98699	0.999999994483285	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.29	5.29	0.74430	6.335000	0.72901	8.094000	0.76531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	1.0:0.0:0.0:0.0	15.190	0.72721	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1006.33	35	chr5	149830813	.	A	G	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.888;DP=747;ExcessHet=0;FS=4.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.57;SOR=1.154	GT:AD:DP:GQ:PL	0/1:57,42:99:99:1020,0,1608	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	0/1:87,40:137:99:309,0,1739	4	0	14	1
chr5	168685904	168685904	G	C	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon31:c.C3359G:p.P1120R,SLIT3:NM_003062:exon31:c.C3338G:p.P1113R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	.	0.0003	0.00179712	0.0017	0	8.795e-05	0.0112	0.0080	0.0008	0.0012	0.0003	0.0014877	230	154602	rs146512576	0.0008	0.0008	0.0008	0.0008	0.0084	0.0008	0.0008	0.0076	0.0074	0	2.25e-05	7.682e-05	0.0084	0.0079	0.0005	0.0003	0.0012	0.0004	0.0009	0.0009	0.0006	0.0012	0.0085	0.0008	0.0007	0.0065	0.0058	0	0	0	0	0.0085	0.0068	0	0.0002	0.0014	0.0002	0.002	0.72154	D	0.003	0.79402	D	0.978	0.58756	D	0.822	0.59150	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.29	0.32370	L	1.38	0.34050	T	-6.35	0.90976	D	0.832	0.82761	-0.9425	0.42218	T	0.108	0.39123	T	10	0.011828661	0.00257	T	.	.	.	0.372	0.69102	.	.	0.547348538005	0.54391	0.6192366671529678	0.61856	0.921772890521	0.71484	0.589398622513	0.51410	T	0.531761	0.83809	D	-0.232327	0.16343	T	-0.0985361	0.63511	T	0.0888914063256755	0.11085	T	0.940606	0.77652	D	0.67725945	0.76822	0.61372685	0.77521	0.67725945	0.76823	0.61372685	0.77522	-12.645	0.87848	D	.	.	0.235	0.54190	B	.;.;.	.;.;.	4.728949	0.76146	26.5	0.99854688988361429	0.93368	0.98663	0.85295	D	AEFDBI	0.938261	0.93719	D	0.611104937080186	0.73876	6.038274	0.590840673166432	0.74280	6.110544	0.999255319945388	0.38906	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.76	4.76	0.60189	8.150000	0.89570	8.467000	0.77261	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.813000	0.38311	0.0807:0.0:0.9193:0.0	12.581	0.55742	966	0.07191	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1462.33	35	chr5	168685904	.	G	C	1462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.743;DP=728;ExcessHet=0;FS=3.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0.29;SOR=0.423	GT:AD:DP:GQ:PL	0/1:37,57:94:99:1476,0,1057	18	0	1	0
chr5	177503357	177503357	G	C	exonic	DOK3	.	nonsynonymous SNV	DOK3:NM_001144876:exon5:c.C375G:p.I125M,DOK3:NM_001144875:exon6:c.C681G:p.I227M,DOK3:NM_001375798:exon6:c.C681G:p.I227M,DOK3:NM_001375799:exon7:c.C681G:p.I227M	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	0.00179712	0.0045	0	0	0	0	0	0	0.0119	0.0006856	106	154602	rs571183873	0.0007	0.0006	0.0004	0.0009	0.0113	0.0006	0.0006	0.0107	0.0105	0	0	0	0	0	0.0009	7.448e-06	0.0005	0.0113	0.0003	0.0003	0.0002	0.0004	0.0083	0.0002	0.0002	0.0063	0.0055	2.406e-05	0	6.533e-05	0	0	0	0	2.94e-05	0	0.0083	0.018	0.57480	D	0.068	0.46862	T	0.706	0.42003	P	0.26	0.39460	B	.	.	.	.	1	0.08975	N	.	.	.	0.79	0.54149	T	0.09	0.05917	N	0.143	0.14338	-1.0644	0.10689	T	0.081	0.31913	T	9	0.004315555	0.00087	T	.	.	.	0.053	0.14996	0.49	0.57573	0.455081427078	0.45129	.	.	.	.	.	.	.	.	.	.	-0.587519	0.00173	T	-0.606319	0.12285	T	0.0212103546923206	0.00823	T	0.359964	0.08281	T	.	.	.	.	.	.	.	.	-4.174	0.26882	T	.	.	0.251	0.57726	B	.;.	.;.	0.980464	0.13579	10.11	0.9919327689474241	0.55053	0.10375	0.15899	N	AEFDBCI	0.037915	0.05286	N	-0.678011717130514	0.16649	0.8501392	-0.791695831318586	0.14698	0.7693587	0.999999827897805	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.1	2.1	0.26226	-0.087000	0.11181	0.031000	0.13732	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	7.756	0.28088	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	0.002825	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1744.33	39	chr5	177503357	.	G	C	1744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.103;DP=885;ExcessHet=0;FS=5.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.335;SOR=1.16	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1758,0,2014	18	0	1	0
chr6	7246939	7246939	G	A	exonic	RREB1	.	nonsynonymous SNV	RREB1:NM_001003698:exon11:c.G4324A:p.E1442K,RREB1:NM_001168344:exon11:c.G4324A:p.E1442K,RREB1:NM_001003699:exon12:c.G4489A:p.E1497K	.	415	1092	15	0	0	15	0.00682128	.	.	.	3190554	RREB1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0002	0.00579073	0.0103	0	0.0074	0	0	0.0010	0.0062	0.0194	0.0020698	320	154602	rs373051958	0.0015	0.0015	0.0010	0.0019	0.0188	0.0014	0.0014	0.0180	0.0177	0.0002	0.0004	0	5.514e-05	0	0.0090	0.0003	0.0023	0.0188	0.0011	0.0011	0.0009	0.0012	0.0205	0.0009	0.0009	0.0173	0.0161	4.815e-05	0	0.0008	0	0	0	0.0034	0.0006	0.0024	0.0205	0.096	0.44694	T	0.029	0.54541	D	0.077	0.41275	B	0.012	0.38212	B	.	.	.	.	0.98306	0.81001	D	1.7	0.43825	L	2.88	0.10871	T	-1.4	0.39887	N	0.35	0.43706	-0.9887	0.32928	T	0.013	0.04985	T	9	0.0053912997	0.00118	T	.	.	.	0.039	0.10176	.	.	0.256237801699	0.25221	0.17515588053605569	0.17434	0.0714395176202	0.08001	0.484914660454	0.36734	T	0.01258	0.11029	T	-0.480617	0.00733	T	-0.448869	0.27821	T	0.0278672327844155	0.01668	T	0.681532	0.33655	T	0.1287304	0.30087	0.11173538	0.26955	0.1287304	0.30087	0.11173538	0.26954	-5.319	0.40455	T	.	.	0.078	0.27998	B	.;.;.;.	.;.;.;.	2.188272	0.27896	17.62	0.97029246248228052	0.32059	0.90857	0.52392	D	AEFDBCI	0.158497	0.28416	N	-0.36711151368594	0.26648	1.455952	-0.362957140334632	0.26111	1.440183	0.999999822170376	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.596874	0.31795	0	0.635551	0.53088	0	.	.	4.97	4.09	0.47038	6.778000	0.74827	6.727000	0.56446	0.586000	0.30580	1.000000	0.71638	0.999000	0.35428	0.013000	0.09966	0.0:0.141:0.859:0.0	15.277	0.73450	714	0.56256	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007216	0.000000	0.002817	0.005848	0.000000	0.008929	0.006250	0.011364	0.05263	1324.81	35	chr6	7246939	.	G	A	1324.81	.	AC=2;AF=0.053;AN=38;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.31;SOR=0.843	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1352,123,0	18	1	0	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:38,11:50:25:25,0,725	7	0	12	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W,HLA-A:NM_002116:exon2:c.C112T:p.R38W	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.124220	0.116162	0.138587	0.075000	0.250000	0.077586	0.158537	0.140152	0.07895	1369.79	130	chr6	29942795	.	C	T	1369.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.338;DP=2200;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.14;MQRankSum=-3.245;QD=3.32;ReadPosRankSum=3.5;SOR=0.618	GT:AD:DP:GQ:PL	0/1:118,33:151:99:1031,0,4511	16	0	3	0
chr6	30547416	30547416	G	C	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon9:c.C1214G:p.P405R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.00786938952162	0.0005	0.000599042	0.0004	9.649e-05	0.0009	0	0	0.0005	0.0011	0.0003	0.0004075	63	154602	rs147634437	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	2.988e-05	0.0009	0.0002	2.519e-05	1.872e-05	0	0.0007	0.0005	0.0004	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	9.622e-05	0	0.0004	0.0003	0.0002	0	0	0.0006	0	0	0.028	0.46129	D	0.05	0.48080	T	0.991	0.64070	D	0.854	0.60866	P	0.000013	0.62929	D	0.113676	0.999999	0.58761	D	0.045	0.08109	N	2.48	0.14657	T	-4.16	0.75375	D	0.532	0.56058	-1.0241	0.22377	T	0.028	0.11926	T	10	0.080355644	0.13033	T	0.007869	0.20877	T	0.192	0.47115	.	.	0.220282294035	0.21616	0.7374710508756271	0.73692	1.64595255246	0.89467	0.723504543304	0.70557	T	0.141453	0.47652	T	-0.391672	0.02624	T	-0.37592	0.36199	T	0.16103733578014	0.17948	T	.	.	.	0.18206646	0.39407	0.2241639	0.47319	0.18206646	0.39407	0.2241639	0.47318	-8.931	0.67252	D	.	.	0.144	0.31832	B	.	.	4.391868	0.67780	25.1	0.99804757158062285	0.88906	0.94225	0.60494	D	AEFBCI	0.714134	0.66671	D	0.327640858686453	0.57570	3.924996	0.386035980829821	0.60704	4.260926	0.999995503390883	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	5.519000	0.66788	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.633	0.88015	814	0.42100	GTP binding domain|Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2617.33	35	chr6	30547416	.	G	C	2617.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.378;DP=810;ExcessHet=0;FS=10.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.22;SOR=1.374	GT:AD:DP:GQ:PL	0/1:75,103:178:99:2631,0,1993	18	0	1	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,78:169:99:.:.:1882,0,2316:.	10	0	9	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,32:72:99:.:.:895,0,1279:.	10	0	9	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	1648.66	177	chr6	31355338	.	T	C	1648.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-1.578;DP=3023;ExcessHet=2.0135;FS=9.688;InbreedingCoeff=-0.2064;MLEAC=6;MLEAF=0.167;MQ=58.26;MQRankSum=-11.42;QD=1.61;ReadPosRankSum=0.042;SOR=1.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:154,19:173:99:.:.:127,0,4600:.	12	0	6	1
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|1:0,25:28:48:0|1:31356399_C_G:1173,123,48:31356399	7	2	10	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4067.47	43	chr6	31356716	.	CA	*	4067.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.25;DP=1047;ExcessHet=0.3394;FS=8.086;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.03;MQRankSum=-6.682;QD=5.84;ReadPosRankSum=-0.53;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,26:63:99:0|1:31356711_C_CGGAG:935,0,1475:31356711	11	2	6	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4133.47	43	chr6	31356719	.	GT	*	4133.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.13;DP=1058;ExcessHet=0.3394;FS=7.971;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.9;MQRankSum=-7.228;QD=5.85;ReadPosRankSum=-1.34;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,27:63:99:0|1:31356711_C_CGGAG:959,0,1430:31356711	11	2	6	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,27:63:99:0|1:31356711_C_CGGAG:959,0,1430:31356711	9	3	6	1
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,87:87:99:1|1:31356739_C_A:3874,262,0:31356739	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	1|1:0,164:164:99:1|1:31356809_C_T:7332,494,0:31356809	3	7	9	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,42:136:99:0|1:31625601_T_C:799,0,3153:31625601	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|1:94,42:136:99:0|1:31625601_T_C:799,0,3153:31625601	1	0	16	2
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V,TNXB:NM_019105:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	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	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	245.84	202	chr6	32084509	.	T	C	245.84	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.312;DP=1216;ExcessHet=0.119;FS=93.345;InbreedingCoeff=-0.056;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.943;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,22:140:99:0|1:32084509_T_C:124,0,4442:32084509	17	0	2	0
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	4391.26	169	chr6	32522104	.	G	*	4391.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.87;DP=2472;ExcessHet=5.3738;FS=13.689;InbreedingCoeff=-0.3098;MLEAC=7;MLEAF=0.184;MQ=44.54;MQRankSum=5.13;QD=5.09;ReadPosRankSum=5.61;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,23:27:58:0|1:32522086_T_C:952,0,58:32522086	12	0	7	0
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	1|0:0,18:69:99:0|1:32522156_T_A:2897,2141,2087:32522156	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|1:0,18:69:99:0|1:32522156_T_A:2897,2141,2087:32522156	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|1:0,18:69:99:0|1:32522156_T_A:2897,2141,2087:32522156	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	1|1:0,47:47:99:1|1:32530183_CTT_C:2115,141,0:32530183	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	1|1:0,47:47:99:1|1:32530183_CTT_C:2115,141,0:32530183	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|1:102,112:214:99:0|1:32584158_G_A:4396,0,3946:32584158	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	1|0:0,110:207:99:0|1:32584178_G_*:8683,4071,3826:32584178	3	2	14	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	16238.5	406	chr6	32584184	.	G	*	16238.5	.	AC=4;AF=0.111;AN=36;BaseQRankSum=3.23;DP=4565;ExcessHet=1.7862;FS=4.279;InbreedingCoeff=-0.0915;MLEAC=4;MLEAF=0.111;MQ=51.6;MQRankSum=-0.956;QD=7.63;ReadPosRankSum=-2.774;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,106:230:99:.:.:4770,319,0:.	15	1	2	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	16445.4	406	chr6	32584185	.	C	*	16445.4	.	AC=3;AF=0.088;AN=34;BaseQRankSum=2.49;DP=4581;ExcessHet=1.0583;FS=4.335;InbreedingCoeff=-0.0523;MLEAC=3;MLEAF=0.088;MQ=51.02;MQRankSum=-1.632;QD=8.83;ReadPosRankSum=-2.806;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,106:230:99:.:.:4770,319,0:.	15	1	1	2
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	1|0:0,226:379:99:0|1:32584279_A_G:16184,6439,5739:32584279	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|1:208,58:266:99:0|1:32641430_C_T:1809,0,8559:32641430	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|1:208,58:266:99:0|1:32641430_C_T:1809,0,8559:32641430	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|1:218,55:273:99:0|1:32641430_C_T:1653,0,8915:32641430	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|1:218,55:273:99:0|1:32641430_C_T:1653,0,8915:32641430	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|1:241,43:284:99:0|1:32641476_G_A:1080,0,9990:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,48:294:99:0|1:32641476_G_A:1120,0,10144:32641476	4	4	11	0
chr6	35233280	35233280	A	G	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon6:c.A688G:p.T230A,SCUBE3:NM_152753:exon6:c.A691G:p.T231A	.	431	1027	60	4	0	68	0.0320452	.	.	.	722010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.166	.	0.0068	0.0091853	0.0090	0.0013	0.0065	0.0095	0.0033	0.0101	0.0113	0.0132	0.0085833	1327	154602	rs79753406	0.0092	0.0092	0.0090	0.0094	0.0347	0.0091	0.0090	0.0331	0.0325	0.0017	0.0074	0.0135	0.0347	0.0039	0.0294	0.0083	0.0094	0.0132	0.0072	0.0072	0.0069	0.0075	0.0143	0.0069	0.0067	0.0116	0.0107	0.0018	0.0011	0.0104	0.0104	0.0143	0.0034	0.0240	0.0092	0.0143	0.0105	0.373	0.11442	T	0.43	0.13713	T	0.083	0.24734	B	0.05	0.25278	B	0.000103	0.50451	D	0.133022	0.911284	0.27501	N	0.21	0.09513	N	-3.67	0.95247	D	-0.97	0.25770	N	0.23	0.25867	-0.6791	0.61414	T	0.307	0.67768	T	10	0.010085374	0.00226	T	.	.	.	0.166	0.42578	.	.	0.805243615292	0.80342	0.4329722714988088	0.43214	0.771633514388	0.64795	0.544402062893	0.45068	T	0.063282	0.32135	T	-0.369348	0.03627	T	-0.292288	0.45535	T	0.0198556633531013	0.00687	T	0.50295	0.15803	T	0.09223358	0.21633	0.088297546	0.20580	0.09223358	0.21633	0.088297546	0.20580	-3.328	0.14100	T	.	.	0.055	0.00412	B	.	.	2.792315	0.36707	20.3	0.94186847558303533	0.24411	0.84137	0.43221	D	AEFBI	0.410819	0.48154	N	-0.500490880925575	0.22065	1.175561	-0.282590628222039	0.28670	1.600411	0.983709014879107	0.30601	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.58	4.58	0.56077	1.627000	0.36661	4.166000	0.42242	0.754000	0.88378	0.963000	0.33788	0.997000	0.33255	0.981000	0.58702	0.6772:0.0:0.0:0.3228	8.145	0.30267	248	0.90287	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022681	0.035714	0.024457	0.026316	0.000000	0.017241	0.012195	0.030303	0.05263	3998.83	35	chr6	35233280	.	A	G	3998.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.647;DP=1012;ExcessHet=0.119;FS=0.373;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.192;SOR=0.722	GT:AD:DP:GQ:PL	0/1:107,93:200:99:2181,0,2639	17	0	2	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	0/1:38,55:93:99:1378,0,954	17	0	2	0
chr6	37652325	37652325	G	A	exonic	MDGA1	.	nonsynonymous SNV	MDGA1:NM_153487:exon7:c.C998T:p.T333I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0201565250533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.39097	T	0.11	0.38450	T	1.0	0.90584	D	0.975	0.73362	D	0.000083	0.51296	D	0.000000	0.999991	0.58761	D	1.935	0.51832	L	0.38	0.57575	T	-2.13	0.48523	N	0.771	0.80083	-0.9430	0.42137	T	0.161	0.49581	T	10	0.5342071	0.63355	D	0.020157	0.42696	T	0.246	0.55340	0.382	0.39970	0.669548379499	0.66676	0.6596516512172644	0.65902	1.83845651168	0.92141	0.784700512886	0.79639	T	0.197394	0.55405	T	0.128508	0.67214	D	-0.0531832	0.66804	D	0.981534600257874	0.73967	D	0.919408	0.71037	D	0.15500727	0.35054	0.18918957	0.42252	0.15500727	0.35054	0.18918957	0.42251	-7.335	0.56444	T	.	.	0.801	0.77310	P	.;.;.	.;.;.	5.397003	0.90395	31	0.99876069276333057	0.95328	0.99476	0.96499	D	AEFDGBI	0.826753	0.74617	D	0.540074929910732	0.69479	5.362834	0.574955574340429	0.73149	5.923553	0.999999999999077	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.33	5.33	0.75683	5.270000	0.65359	11.919000	0.99774	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	18.011	0.89146	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	.	.	.	.	.	.	.	.	0.02632	1225.33	109	chr6	37652325	.	G	A	1225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.705;DP=994;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.85;SOR=0.78	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1239,0,2015	18	0	1	0
chr6	43640388	43640388	G	A	exonic	MAD2L1BP	.	nonsynonymous SNV	MAD2L1BP:NM_014628:exon3:c.G680A:p.R227Q,MAD2L1BP:NM_001003690:exon4:c.G776A:p.R259Q	.	436	1080	5	1	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0002	0.0107827	0.0053	9.711e-05	0.0003	0	0	3.024e-05	0.0045	0.0380	0.0046054	712	154602	rs146911441	0.0022	0.0022	0.0012	0.0032	0.0349	0.0021	0.0021	0.0339	0.0335	0.0001	2.236e-05	0	2.519e-05	0	0.0010	1.799e-05	0.0023	0.0349	0.0011	0.0011	0.0006	0.0017	0.0349	0.0010	0.0010	0.0306	0.0289	7.22e-05	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0349	0.399	0.11478	T	0.239	0.24477	T	0.312	0.32836	B	0.066	0.27432	B	0.019947	0.27146	N	0.341241	0.999299	0.21398	N	1.645	0.42016	L	0.84	0.47477	T	-0.95	0.28497	N	0.164	0.17416	-1.0255	0.21919	T	0.026	0.11087	T	10	0.006864339	0.00156	T	.	.	.	0.043	0.11576	.	.	0.313518423057	0.30959	0.4420740439328499	0.44124	0.34074805764	0.36013	0.241858512163	0.02960	T	0.093338	0.39190	T	-0.572834	0.00213	T	-0.569153	0.15528	T	0.0209023217590896	0.00791	T	0.767123	0.39533	T	0.052423846	0.09774	0.07780771	0.17369	0.052423846	0.09774	0.07780771	0.17368	-3.299	0.13724	T	.	.	0.095	0.14933	B	.;.	.;.	2.637322	0.34311	19.59	0.95089169706422572	0.26151	0.82132	0.41407	D	AEFBCI	0.223499	0.34785	N	-0.714922339776648	0.15602	0.7877124	-0.552494016022375	0.20739	1.118775	0.999999914124255	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.09	2.28	0.27583	1.769000	0.38152	5.848000	0.50311	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2831:0.0:0.7169:0.0	11.05	0.47098	440	0.80101	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	1391.33	35	chr6	43640388	.	G	A	1391.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=775;ExcessHet=0;FS=1.404;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.55;SOR=0.547	GT:AD:DP:GQ:PL	0/1:74,56:130:99:1405,0,1860	18	0	1	0
chr6	44135333	44135333	G	C	exonic	TMEM63B	.	nonsynonymous SNV	TMEM63B:NM_001318792:exon4:c.G245C:p.R82P,TMEM63B:NM_018426:exon4:c.G245C:p.R82P	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	7.7e-05	0.00399361	0.0026	0.0001	0.0002	0	0	1.731e-05	0.0013	0.0184	0.002044	316	154602	rs371238478	0.0010	0.0010	0.0006	0.0014	0.0158	0.0009	0.0009	0.0151	0.0148	2.989e-05	4.481e-05	0	0	0	0.0009	8.998e-07	0.0013	0.0158	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	2.405e-05	0	0	0	0	0	0	0	0	0.0176	0.019	0.50132	D	0.204	0.48594	T	0.625	0.40054	P	0.162	0.34839	B	0.000220	0.47681	D	0.088316	0.978079	0.39427	D	1.78	0.46185	L	1.16	0.38073	T	-0.75	0.24676	N	0.542	0.56919	-1.0648	0.10596	T	0.030	0.13023	T	10	0.005761504	0.00128	T	.	.	.	0.164	0.42212	.	.	0.043077524339	0.03247	0.8768560772387578	0.87652	1.87457451814	0.92549	0.350712358952	0.18027	T	0.020088	0.15881	T	-0.413149	0.01895	T	-0.353262	0.38832	T	0.031023383204343	0.02150	T	0.493251	0.20478	T	0.3777359	0.59152	0.38292825	0.63268	0.3777359	0.59153	0.38292825	0.63268	-4.668	0.33015	T	.	.	0.320	0.61015	B	.;.;.	.;.;.	2.968236	0.39555	21.0	0.99362520399714704	0.61071	0.84837	0.43929	D	AEFBCI	0.635481	0.61498	D	-0.126361312137192	0.36247	2.092598	-0.034412145475776	0.38171	2.245171	0.999984438573626	0.51787	0.706548	0.73137	0	0.614415	0.52539	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.48	3.6	0.40374	0.888000	0.27904	2.185000	0.31161	-0.153000	0.12021	0.998000	0.41325	1.000000	0.68203	0.981000	0.58702	0.0867:0.0:0.9133:0.0	11.852	0.51693	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	702.33	34	chr6	44135333	.	G	C	702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=746;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.285;SOR=0.497	GT:AD:DP:GQ:PL	0/1:39,30:69:99:716,0,902	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	0/1:78,32:112:65:65,0,1411	8	0	8	3
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	2229.07	290	chr6	52403967	.	A	G	2229.07	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-4.146;DP=3105;ExcessHet=2.0135;FS=137.475;InbreedingCoeff=-0.336;MLEAC=7;MLEAF=0.318;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=2.7;SOR=10.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,20:196:1:0|1:52403967_A_G:1,0,6409:52403967	5	0	6	8
chr6	52403970	52403970	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757T:p.L253F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00630749574742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.098	0.39040	T	0.002	0.09854	B	0.03	0.21741	B	0.156625	0.17794	N	0.568363	0.978788	0.25225	N	.	.	.	1.35	0.34648	T	-1.54	0.37375	N	0.043	0.01740	-0.9995	0.30058	T	0.022	0.09421	T	9	0.07588753	0.11786	T	0.006307	0.16580	T	0.056	0.15993	0.404	0.43573	0.258283824007	0.25425	0.4649470711667506	0.46413	0.41020588675	0.41812	0.385233283043	0.22995	T	0.083781	0.37132	T	-0.242974	0.14973	T	-0.586792	0.13944	T	0.131729736924171	0.15541	T	0.726327	0.34071	T	0.0702468	0.15457	0.08061282	0.18250	0.0702468	0.15456	0.08061282	0.18250	-4.121	0.25599	T	.	.	0.102	0.17911	B	.;.	.;.	1.645479	0.20997	15.00	0.98230747167124433	0.39387	0.23460	0.22083	N	ALL	0.166227	0.29279	N	-0.569512802825605	0.19875	1.043656	-0.505190822221499	0.22012	1.193515	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05882	1871.38	277	chr6	52403970	.	C	T	1871.38	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-6.051;DP=2559;ExcessHet=2.0135;FS=127.215;InbreedingCoeff=-0.225;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=3.09;SOR=10.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,21:194:17:0|1:52403967_A_G:17,0,6329:52403967	15	0	2	2
chr6	75121334	75121334	C	T	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon29:c.G3562A:p.G1188S,COL12A1:NM_004370:exon44:c.G7054A:p.G2352S	Bethlem myopathy 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.015116971809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.30800	T	0.097	0.45744	T	0.023	0.22878	B	0.142	0.33681	B	0.000004	0.62929	D	0.058454	0.960629	0.38190	D	-0.28	0.03718	N	-1.01	0.76168	T	0.46	0.03407	N	0.244	0.32591	-0.8196	0.53959	T	0.161	0.49681	T	10	0.22389552	0.39180	T	0.015117	0.35666	T	0.291	0.61040	0.498	0.58835	0.539371870287	0.53588	0.5452910732601682	0.54455	0.551757818701	0.52012	0.443698316813	0.31082	T	0.002636	0.37425	T	-0.0827395	0.39269	T	-0.356626	0.38443	T	0.879793465137482	0.52978	D	0.905209	0.66592	D	0.15677162	0.35361	0.21524139	0.46105	0.15677162	0.35361	0.21524139	0.46104	-2.976	0.13647	T	0.09010184994259313	0.05575	0.093	0.13830	B	.;.;.;.;.	.;.;.;.;.	4.063821	0.60331	24.2	0.99584418449336132	0.73218	0.98685	0.85562	D	AEFBI	0.956701	0.97541	D	0.0168093521204905	0.42620	2.571408	0.279048649782297	0.54318	3.597117	0.999999999999983	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	7.905000	0.86479	7.695000	0.65987	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.966	0.97272	836	0.38045	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	40	chr6	75121334	.	C	T	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.406;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.045;SOR=0.658	GT:AD:DP:GQ:PL	0/1:46,54:100:99:1268,0,1075	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|1:31,22:53:99:0|1:80007990_G_C:673,0,1156:80007990	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|1:31,22:53:99:0|1:80007990_G_C:673,0,1156:80007990	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|1:31,22:53:99:0|1:80007990_G_C:673,0,1156:80007990	1	0	11	7
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	397.65	21	chr6	80007993	.	T	*	397.65	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.741;DP=803;ExcessHet=12.7857;FS=238.801;InbreedingCoeff=-0.3118;MLEAC=12;MLEAF=0.75;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.99;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,22:53:99:0|1:80007990_G_C:673,0,1156:80007990	1	0	7	11
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	*	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,22:53:99:0|1:80007990_G_C:673,0,1156:80007990	6	0	4	9
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|1:29,21:50:99:0|1:80007990_G_C:639,0,1122:80007990	7	0	4	8
chr6	87015870	87015870	A	G	exonic	HTR1E	.	nonsynonymous SNV	HTR1E:NM_000865:exon2:c.A536G:p.H179R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0143639653681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.211e-06	8.209e-06	9.531e-06	6.878e-06	1.079e-05	4.38e-06	3.46e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.267	0.22561	T	0.996	0.68779	D	0.967	0.71530	D	0.000005	0.62929	U	0.000000	0.990031	0.41073	D	1.205	0.30389	L	-0.61	0.71779	T	-2.36	0.52128	N	0.748	0.74735	-0.8106	0.54514	T	0.198	0.55286	T	10	0.8151314	0.80760	D	0.014364	0.34425	T	0.356	0.67691	0.627	0.76254	0.895932456608	0.89490	0.7426856871827446	0.74214	1.48240043888	0.86736	0.817247033119	0.84605	D	0.228391	0.59392	T	-0.0333288	0.46932	T	-0.285651	0.46223	T	0.825869006987383	0.48212	D	0.842916	0.51943	T	0.22776385	0.45483	0.21530588	0.46114	0.22776385	0.45483	0.21530588	0.46113	-5.309	0.40032	T	.	.	0.282	0.51506	B	.	.	3.683169	0.52433	23.2	0.99236147860408164	0.56373	0.97126	0.72841	D	AEFBI	0.781709	0.71321	D	0.192823994263012	0.50855	3.271572	0.143564189238264	0.46803	2.920298	3.298297361876E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.79	0.23992	8.719000	0.91169	6.091000	0.53446	0.540000	0.25189	1.000000	0.71638	1.000000	0.68203	0.405000	0.26894	0.7641:0.1531:0.0828:0.0	6.720	0.22511	809	0.43032	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	3330.33	34	chr6	87015870	.	A	G	3330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.433;DP=897;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.121;SOR=0.686	GT:AD:DP:GQ:PL	0/1:118,132:250:99:3344,0,3045	18	0	1	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	0/1:40,34:74:99:.:.:275,0,591:.	6	0	9	4
chr6	111344045	111344045	-	A	splicing	REV3L	NM_002912:exon22:c.7420-2->T;NM_001286432:exon23:c.7186-2->T;NM_001286431:exon24:c.7186-2->T;NM_001372078:exon21:c.7420-2->T	.	.	.	433	1062	25	2	0	29	0.0134696	.	.	.	777644	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0046	0.00559105	0.0073	0.0007	0.0035	0.0030	0.0004	0.0029	0.0066	0.035	0.0008068	21	26028	rs565415842	0.0022	0.0052	0.0016	0.0029	0.0238	0.0021	0.0021	0.0229	0.0225	0.0004	0.0017	0.0039	0.0002	0.0003	0.0080	0.0008	0.0026	0.0238	0.0013	0.0013	0.0009	0.0016	0.0193	0.0011	0.0011	0.0161	0.0149	0.0002	0	0.0017	0.0026	0	0	0.0068	0.0007	0.0014	0.0193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	500.29	38	chr6	111344045	.	T	TA	500.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.295;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.113;SOR=0.809	GT:AD:DP:GQ:PL	0/1:33,24:57:99:514,0,769	18	0	1	0
chr6	137011414	137011414	C	T	exonic	IL20RA	.	nonsynonymous SNV	IL20RA:NM_001278722:exon3:c.G116A:p.R39K,IL20RA:NM_014432:exon3:c.G263A:p.R88K	.	432	1080	9	1	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0109655966568	0.0022	0.00119808	0.0014	0.0003	0.0010	0	0.0002	0.0020	0.0022	0.0014	0.0014618	226	154602	rs142251595	0.0017	0.0017	0.0018	0.0017	0.0068	0.0017	0.0017	0.0051	0.0045	0.0003	0.0011	0.0003	2.521e-05	0.0003	0.0068	0.0020	0.0017	0.0013	0.0013	0.0013	0.0014	0.0011	0.0022	0.0011	0.0011	0.0019	0.0018	0.0003	0	0.0008	0	0.0004	0.0005	0	0.0022	0.0033	0.0006	0.342	0.12837	T	0.366	0.18846	T	0.051	0.22415	B	0.027	0.21085	B	0.066002	0.21840	N	0.527775	1	0.81001	D	0.75	0.19020	N	-0.69	0.72678	T	-1.0	0.26422	N	0.172	0.20395	-1.0460	0.15534	T	0.089	0.34271	T	10	0.01442194	0.00303	T	0.010966	0.28104	T	0.042	0.11227	.	.	0.839978442642	0.83845	0.44083047820770976	0.44000	0.291786692998	0.31589	0.338182389736	0.16166	T	0.036	0.23820	T	-0.472692	0.00818	T	-0.456693	0.26959	T	0.00779212174290422	0.00091	T	0.539746	0.25622	T	0.29951292	0.52861	0.10247968	0.24562	0.29951292	0.52861	0.10247968	0.24562	-4.742	0.44004	T	.	.	0.084	0.14293	B	.;.;.	.;.;.	1.972301	0.25058	16.62	0.64612834454998458	0.07542	0.65132	0.32635	D	AEFGBI	0.195903	0.32291	N	-0.400155003582418	0.25465	1.382475	-0.238978032843875	0.30153	1.695316	0.987613519101907	0.31305	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.04	3.3	0.36912	0.390000	0.20494	0.608000	0.20000	0.599000	0.40250	0.997000	0.40164	0.838000	0.27274	0.983000	0.59808	0.0:0.7:0.1454:0.1546	6.878	0.23340	805	0.43675	.;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	0.003543	0.010101	0.001362	0.000000	0.000000	0.000000	0.003125	0.011364	0.02632	857.33	36	chr6	137011414	.	C	T	857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.433;DP=677;ExcessHet=0;FS=1.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.957;SOR=0.951	GT:AD:DP:GQ:PL	0/1:25,32:57:99:871,0,609	18	0	1	0
chr6	138912809	138912809	C	T	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001286612:exon13:c.G1654A:p.D552N,REPS1:NM_001128617:exon15:c.G1846A:p.D616N,REPS1:NM_001286611:exon16:c.G1927A:p.D643N,REPS1:NM_031922:exon16:c.G1924A:p.D642N	.	439	1063	18	2	0	22	0.0102421	.	.	.	626157	Neurodegeneration_with_brain_iron_accumulation_7|not_specified|not_provided	MONDO:MONDO:0054763,MedGen:C4693583,OMIM:617916|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.00584594839477	0.0008	0.000399361	0.0010	0.0002	0.0008	0	0	0.0013	0.0044	0.0015	0.0009379	145	154602	rs140387177	0.0009	0.0009	0.0008	0.0010	0.0208	0.0008	0.0008	0.0178	0.0166	0.0011	0.0008	0.0020	0	0	0.0208	0.0007	0.0021	0.0017	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	0.0002	0	0.0014	0.0026	0	0	0.0238	0.0006	0.0043	0.0012	0.005	0.63226	D	0.271	0.22291	T	0.059	0.64738	B	0.005	0.52463	B	0.000880	0.41335	D	0.270973	0.62933	0.32775	D	0	0.06538	N	1.46	0.32482	T	-0.39	0.13805	N	0.308	0.34767	-1.0977	0.04380	T	0.036	0.15465	T	10	0.010942996	0.00241	T	0.005846	0.15191	T	0.134	0.36365	.	.	0.360112713275	0.35619	0.11333632972681876	0.11261	0.249247192868	0.27497	0.488500058651	0.37230	T	0.010284	0.16191	T	-0.586622	0.00176	T	-0.628649	0.10516	T	0.0270770312247092	0.01555	T	0.948305	0.80045	D	0.09572074	0.22533	0.06060335	0.11566	0.112206236	0.26509	0.06677537	0.13724	-3.428	0.16361	T	0.10115356141937344	0.07544	0.082	0.18122	B	.;.;.;.;.;.	.;.;.;.;.;.	4.819928	0.78497	26.9	0.99854476823934191	0.93368	0.96974	0.71966	D	AEFBI	0.663323	0.63288	D	0.0659778328615646	0.44882	2.75418	0.282463158926441	0.54516	3.616317	0.999929269205257	0.46280	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	4.965000	0.63418	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9239:0.0:0.0761	14.220	0.65367	919	0.19497	.;.;.;.;.;.	.	.	.	.	.	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	0.010070	0.020202	0.010870	0.020468	0.000000	0.017241	0.003049	0.000000	0.05263	3761.83	34	chr6	138912809	.	C	T	3761.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.511;DP=896;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.598;SOR=0.672	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1865,0,1882	17	0	2	0
chr6	142078770	142078770	G	A	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon2:c.C112T:p.R38C,NMBR:NM_001324307:exon3:c.C112T:p.R38C,NMBR:NM_002511:exon3:c.C556T:p.R186C	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0464146025495	.	0.000399361	0.0002	0	0	0	0	5.994e-05	0	0.0015	0.0002264	35	154602	rs201727010	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	4.472e-05	3.826e-05	0	0	0.0009	4.946e-05	9.934e-05	0.0017	8.554e-05	9.19e-05	9.008e-05	8.079e-05	0.0017	4.964e-05	3.968e-05	0.0008	0.0006	0	0	0	0	0	0	0	7.354e-05	0	0.0017	0.06	0.37326	T	0.065	0.44702	T	0.844	0.46645	P	0.289	0.40655	B	0.006696	0.31864	N	0.379009	0.917678	0.36586	D	0.845	0.21182	L	-0.69	0.72678	T	-1.47	0.35991	N	0.206	0.22870	-0.5419	0.67092	T	0.223	0.58691	T	10	0.031638324	0.01302	T	0.046415	0.62447	D	0.245	0.55201	0.575	0.69957	0.812200311944	0.81043	0.706178303002584	0.70559	0.202610235331	0.22681	0.204787328839	0.00609	T	0.130665	0.45970	T	-0.385988	0.02855	T	-0.3573	0.38366	T	0.123414872814463	0.14760	T	0.286771	0.05140	T	0.10188241	0.24070	0.09146061	0.21505	0.10188241	0.24070	0.09146061	0.21504	-6.921	0.53455	T	.	.	0.270	0.50444	B	.	.	1.781060	0.22647	15.70	0.99761031893154928	0.85091	0.54967	0.29746	D	AEFBI	0.525424	0.54820	D	-0.028229250646847	0.40579	2.412321	-0.0949925348317143	0.35597	2.061341	0.994750238438243	0.33785	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	3.010000	0.49246	2.467000	0.32880	-0.171000	0.11205	0.303000	0.25352	0.130000	0.22991	0.003000	0.05239	0.0:0.0:1.0:0.0	19.320	0.94221	928	0.17405	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2964.33	33	chr6	142078770	.	G	A	2964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.169;DP=849;ExcessHet=0;FS=1.65;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.463;SOR=0.823	GT:AD:DP:GQ:PL	0/1:101,117:218:99:2978,0,2404	18	0	1	0
chr6	145735363	145735363	C	G	exonic	EPM2A	.	nonsynonymous SNV	EPM2A:NM_001018041:exon1:c.G136C:p.A46P,EPM2A:NM_001360057:exon1:c.G136C:p.A46P,EPM2A:NM_001368130:exon1:c.G136C:p.A46P,EPM2A:NM_005670:exon1:c.G136C:p.A46P	Epilepsy, progressive myoclonic 2A (Lafora), Autosomal recessive	119	1397	5	1	0	7	0.00249911	.	.	YES	172293	Progressive_myoclonic_epilepsy|not_specified|not_provided|Inborn_genetic_diseases|Lafora_disease	MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009697,MedGen:C0751783,OMIM:PS254780,Orphanet:501	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.250	.	.	0.0115815	0.0208	0	0	0.0667	.	0.0149	0.1	0.0203	0.0009961	154	154602	rs374338349	0.0037	0.0027	0.0037	0.0038	0.1562	0.0036	0.0036	0.1493	0.1465	0.0002	0	0.0057	0.1562	0.0432	0.0014	0.0004	0.0094	0.0084	0.0044	0.0044	0.0035	0.0052	0.0881	0.0041	0.0040	0.0806	0.0777	0.0005	0	0.0006	0.0021	0.0881	0.0168	0	0.0005	0.0070	0.0097	0.363	0.11807	T	0.284	0.21411	T	0.965	0.56013	D	0.833	0.59784	P	0.882773	0.08743	N	0.940554	0.560579	0.32209	D	1.61	0.41143	L	-2.27	0.87433	D	-0.11	0.08653	N	0.154	0.16586	-0.5218	0.67848	T	0.481	0.80149	T	10	0.0021043122	0.00030	T	.	.	.	0.250	0.55888	.	.	.	.	0.29291766989800316	0.29204	0.309939455487	0.33302	0.825751900673	0.85912	D	0.34186	0.71071	T	-0.332581	0.05918	T	-0.188818	0.55701	T	0.0482546783300316	0.05189	T	0.634537	0.24876	T	.	.	.	.	.	.	.	.	-4.18	0.27126	T	0.10172011140703817	0.07650	0.094	0.24599	B	.;.;.;.	.;.;.;.	2.290930	0.29305	18.08	0.98783304603619304	0.46175	0.64867	0.32547	D	ALL	0.074843	0.15013	N	-0.268856342466172	0.30358	1.691961	-0.369507853396789	0.25912	1.42792	0.999999999949135	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	3.29	2.4	0.28568	-0.075000	0.11392	2.939000	0.35656	0.300000	0.18932	0.021000	0.19753	0.121000	0.22902	0.021000	0.11733	0.0:0.7493:0.0:0.2507	6.478	0.21246	698	0.58074	Carbohydrate binding module family 20|Carbohydrate binding module family 20|Carbohydrate binding module family 20|Laforin, CBM20 domain;Carbohydrate binding module family 20|Carbohydrate binding module family 20|Carbohydrate binding module family 20|Laforin, CBM20 domain;Carbohydrate binding module family 20|Carbohydrate binding module family 20|Carbohydrate binding module family 20|Laforin, CBM20 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004577	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.029412	0.02632	525.33	40	chr6	145735363	.	C	G	525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.85;DP=519;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-1.057;SOR=0.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,18:35:99:0|1:145735340_G_C:539,0,413:145735340	18	0	1	0
chr6	145805261	145805261	G	C	exonic	FBXO30	.	nonsynonymous SNV	FBXO30:NM_001348092:exon2:c.C1145G:p.S382C,FBXO30:NM_032145:exon2:c.C1145G:p.S382C	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0005	0.0115815	0.0082	0.0007	0.0003	0.0787	0.0135	0.0015	0.0099	0.0067	0.0072185	1116	154602	rs17075385	0.0031	0.0031	0.0030	0.0031	0.0641	0.0030	0.0030	0.0620	0.0611	0.0003	0.0002	0.0022	0.0641	0.0143	0.0010	0.0003	0.0049	0.0058	0.0042	0.0042	0.0034	0.0050	0.0707	0.0039	0.0038	0.0647	0.0624	0.0005	0	0.0006	0.0020	0.0707	0.0138	0	0.0005	0.0066	0.0079	0.038	0.42783	D	0.04	0.50809	D	0.948	0.53620	P	0.41	0.44785	B	0.001525	0.38731	N	0.301525	0.787468	0.34344	D	1.895	0.50365	L	2.07	0.20387	T	-1.72	0.40850	N	0.479	0.51405	-1.1247	0.02054	T	0.036	0.15640	T	10	0.0020798743	0.00030	T	.	.	.	0.091	0.26358	.	.	0.110392049598	0.10638	0.4686408344277404	0.46783	0.507051936631	0.48895	0.350730121136	0.18029	T	0.16688	0.51329	T	-0.497637	0.00589	T	-0.425909	0.30399	T	0.0188284114148665	0.00594	T	0.726827	0.34112	T	0.19096018	0.40704	0.11094832	0.26757	0.19096018	0.40704	0.11094832	0.26756	-5.364	0.40572	T	.	.	0.087	0.10979	B	.	.	2.933527	0.38978	20.9	0.97832204356795172	0.36266	0.96697	0.70458	D	AEFBCI	0.681366	0.64474	D	0.548160979522782	0.69972	5.433383	0.611072162834418	0.75742	6.364746	0.999999999999953	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.46	5.46	0.80021	7.147000	0.76970	6.756000	0.56523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.844	0.88635	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	3071.33	162	chr6	145805261	.	G	C	3071.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=2472;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.605;SOR=0.765	GT:AD:DP:GQ:PL	0/1:141,118:259:99:3085,0,3659	18	0	1	0
chr6	145954847	145954847	T	G	exonic	SHPRH	.	nonsynonymous SNV	SHPRH:NM_001042683:exon2:c.A476C:p.D159A,SHPRH:NM_001370327:exon2:c.A476C:p.D159A,SHPRH:NM_173082:exon2:c.A476C:p.D159A	.	426	1089	7	0	0	7	0.00320366	.	.	.	735465	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0005	0.0115815	0.0082	0.0007	0.0003	0.0777	0.0135	0.0015	0.0100	0.0066	0.0071539	1106	154602	rs117586623	0.0031	0.0031	0.0030	0.0031	0.0640	0.0030	0.0030	0.0620	0.0611	0.0002	0.0002	0.0022	0.0640	0.0143	0.0010	0.0003	0.0049	0.0057	0.0042	0.0042	0.0034	0.0050	0.0714	0.0039	0.0038	0.0654	0.0631	0.0005	0	0.0006	0.0020	0.0714	0.0139	0	0.0005	0.0062	0.0081	0.024	0.49613	D	0.073	0.59159	T	0.039	0.23586	B	0.016	0.22909	B	0.124150	0.18891	N	0.506651	0.516331	0.31606	N	1.935	0.51832	L	-0.03	0.63240	T	-1.21	0.30762	N	0.255	0.30914	-0.9200	0.45554	T	0.117	0.41142	T	10	0.0016303062	0.00019	T	.	.	.	0.043	0.11576	.	.	0.645427016598	0.64249	0.30821943746811487	0.30734	0.101150159241	0.11438	0.274795621634	0.06777	T	0.029	0.21028	T	-0.457798	0.01014	T	-0.369523	0.36945	T	0.0231720178514296	0.01044	T	0.659534	0.26859	T	0.14530158	0.33314	0.1169254	0.28225	0.14530158	0.33314	0.1169254	0.28224	-3.703	0.19525	T	.	.	0.083	0.10545	B	.;.;.;.;.	.;.;.;.;.	2.034017	0.25852	16.91	0.98716863114448306	0.45142	0.97218	0.73388	D	AEFBI	0.281295	0.39490	N	-0.274623839393304	0.30132	1.677277	-0.185219966224242	0.32078	1.821531	0.999999999287481	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.66	5.66	0.87293	2.157000	0.41946	1.116000	0.24201	0.665000	0.62972	0.635000	0.28042	0.185000	0.23452	0.972000	0.54974	0.0:0.0:0.0:1.0	15.884	0.79009	356	0.85138	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1251.33	36	chr6	145954847	.	T	G	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.498;DP=757;ExcessHet=0;FS=4.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.896;SOR=0.902	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1265,0,1754	18	0	1	0
chr6	150831254	150831254	G	A	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon13:c.G2026A:p.A676T,PLEKHG1:NM_001329802:exon14:c.G2104A:p.A702T,PLEKHG1:NM_001329798:exon15:c.G2320A:p.A774T,PLEKHG1:NM_001329799:exon15:c.G2263A:p.A755T,PLEKHG1:NM_001329800:exon15:c.G2143A:p.A715T,PLEKHG1:NM_001329801:exon15:c.G2143A:p.A715T,PLEKHG1:NM_001029884:exon16:c.G2143A:p.A715T	.	425	1073	20	4	0	28	0.0128795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0034	0.028754	0.0152	0.0016	0.0021	0.1465	0.0017	0.0041	0.0088	0.0147	0.0144371	2232	154602	rs79596384	0.0091	0.0091	0.0091	0.0092	0.1325	0.0090	0.0090	0.1295	0.1283	0.0013	0.0021	0.0012	0.1325	0.0013	0.0054	0.0050	0.0137	0.0168	0.0083	0.0084	0.0077	0.0090	0.1353	0.0079	0.0078	0.1270	0.1236	0.0015	0	0.0022	0.0014	0.1353	0.0005	0.0034	0.0051	0.0085	0.0203	1.0	0.00964	T	0.572	0.08746	T	0.001	0.07471	B	0.0	0.01387	B	0.694776	0.10144	N	0.885659	1	0.08975	N	-1.405	0.00592	N	0.33	0.58323	T	-0.86	0.23372	N	0.007	0.00055	-1.0098	0.26981	T	0.020	0.08407	T	10	0.0015370548	0.00017	T	.	.	.	0.023	0.04649	.	.	.	.	0.06310798256465852	0.06249	.	.	0.208453893661	0.00747	T	0.004097	0.03512	T	-0.767083	0.00014	T	-0.744818	0.03691	T	0.0019185261821764	0.00020	T	0.385761	0.09460	T	0.03489112	0.04004	0.044500437	0.05781	0.03489112	0.04004	0.044500437	0.05781	-3.454	0.15794	T	.	.	0.064	0.01909	B	.;.	.;.	-1.437036	0.00335	0.006	0.75896630633282236	0.11253	0.02693	0.07333	N	AEFBI	0.038027	0.05321	N	-1.52829799366686	0.01666	0.0728699	-1.52173222194463	0.02177	0.09975195	0.929668500685307	0.26977	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.636168	0.56350	0	.	.	5.61	-3.34	0.04635	-1.969000	0.01596	-4.017000	0.02391	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3227:0.3114:0.2663:0.0996	2.436	0.04209	960	0.08626	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.006098	0.015152	0.02632	1357.33	153	chr6	150831254	.	G	A	1357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.93;DP=2033;ExcessHet=0;FS=2.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.318;SOR=0.639	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1371,0,1325	18	0	1	0
chr6	151350612	151350612	A	C	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.A1906C:p.S636R,AKAP12:NM_144497:exon2:c.A1927C:p.S643R,AKAP12:NM_005100:exon4:c.A2221C:p.S741R	.	431	1057	32	2	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0024	0.00838658	0.0057	0.0004	0.0056	0	0.0003	0.0035	0.0022	0.0237	0.0053622	829	154602	rs146088180	0.0040	0.0040	0.0033	0.0047	0.0230	0.0039	0.0039	0.0222	0.0219	0.0002	0.0035	0.0027	0	0.0004	0.0061	0.0030	0.0042	0.0230	0.0027	0.0027	0.0023	0.0031	0.0287	0.0025	0.0024	0.0248	0.0233	0.0004	0	0.0021	0.0014	0.0002	0.0006	0.0034	0.0030	0.0024	0.0287	0.007	0.59928	D	0.045	0.52060	D	0.172	0.28767	B	0.058	0.32546	B	0.000166	0.48594	D	0.000000	1	0.08975	N	2.615	0.76484	M	3.05	0.08721	T	-3.12	0.63782	D	0.297	0.34336	-0.9588	0.39405	T	0.009	0.03315	T	10	0.0046565533	0.00097	T	.	.	.	0.048	0.13305	0.338	0.32816	0.31291088546	0.30898	0.0800545487200333	0.07940	0.56273454734	0.52734	0.361177116632	0.19557	T	0.432458	0.78022	T	-0.503759	0.00545	T	-0.478806	0.24574	T	0.0570421717880774	0.06695	T	0.845515	0.52437	T	0.2066933	0.42852	0.1648525	0.38168	0.2066933	0.42852	0.1648525	0.38167	-6.4	0.49509	T	.	.	0.501	0.65101	A	.;.;.;.	.;.;.;.	2.148102	0.27360	17.44	0.99226135576698771	0.56057	0.65544	0.32773	D	AEFDBCI	0.312985	0.41827	N	-0.627014738732703	0.18136	0.9391508	-0.628932184624896	0.18751	1.003074	0.991744038446975	0.32594	0.67177	0.52595	0	0.573888	0.26702	0	0.786243	0.99158	0	0.711	0.71501	0	.	.	5.63	3.24	0.36257	2.373000	0.43920	4.637000	0.44139	-0.071000	0.16307	0.746000	0.29090	0.999000	0.35428	0.008000	0.08271	0.7393:0.0:0.1356:0.1251	5.780	0.17567	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.034091	0.02632	1090.33	47	chr6	151350612	.	A	C	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.706;DP=1357;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.598;SOR=0.693	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1104,0,1122	18	0	1	0
chr6	152148069	152148069	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_001347702:exon8:c.C1417T:p.L473F,SYNE1:NM_001347701:exon10:c.C1558T:p.L520F,SYNE1:NM_033071:exon136:c.C24739T:p.L8247F,SYNE1:NM_182961:exon137:c.C24952T:p.L8318F	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	1	1514	6	1	0	8	0.00263505	.	.	.	191466	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	0.0321819213905	0.0039	0.00219649	0.0053	0.0007	0.0014	0.0004	0.0044	0.0071	0.0055	0.0066	0.0050646	783	154602	rs141716975	0.0059	0.0059	0.0059	0.0059	0.0064	0.0058	0.0058	0.0063	0.0063	0.0006	0.0019	0.0075	0.0004	0.0052	0.0043	0.0064	0.0057	0.0059	0.0043	0.0043	0.0044	0.0041	0.0067	0.0040	0.0039	0.0062	0.0060	0.0012	0	0.0028	0.0078	0.0002	0.0033	0	0.0067	0.0066	0.0058	0.009	0.57480	D	0.101	0.41573	T	0.911	0.50336	P	0.391	0.44178	B	0.005705	0.32572	N	0.138648	0.723846	0.33646	D	2.79	0.81396	M	0.53	0.55090	T	-2.56	0.58896	D	0.48	0.59732	-0.9129	0.46492	T	0.130	0.43989	T	10	0.0070774257	0.00161	T	0.032182	0.54073	D	0.174	0.44019	.	.	0.545475791818	0.54202	0.290431846695997	0.28956	0.3225650581	0.34443	0.480468869209	0.36121	T	0.435129	0.78197	T	-0.392228	0.02603	T	-0.328794	0.41602	T	0.0457955055264653	0.04746	T	0.794021	0.44782	T	0.14669088	0.33569	0.19622447	0.43341	0.19970521	0.41919	0.2417533	0.49578	-4.822	0.34847	T	.	.	0.100	0.19276	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.039976	0.40753	21.2	0.98991608755424321	0.49963	0.99201	0.92723	D	AEFBI	0.731805	0.67876	D	0.172805657544691	0.49895	3.185045	0.13736673968672	0.46477	2.892999	0.999627368547509	0.41093	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.34	3.45	0.38602	5.924000	0.69776	6.392000	0.55560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0731:0.0:0.7873:0.1396	9.784	0.39832	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	0.004028	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	1030.33	34	chr6	152148069	.	G	A	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=1154;ExcessHet=0;FS=4.468;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.705;SOR=1.148	GT:AD:DP:GQ:PL	0/1:37,38:75:99:1044,0,918	18	0	1	0
chr6	156778665	156778665	G	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.G985A:p.G329S,ARID1B:NM_001374828:exon1:c.G985A:p.G329S,ARID1B:NM_017519:exon1:c.G985A:p.G329S,ARID1B:NM_001371656:exon2:c.G985A:p.G329S	Coffin-Siris syndrome 1, Autosomal dominant	1	1454	61	6	0	73	0.0244884	.	.	.	207349	not_specified|Inborn_genetic_diseases|not_provided|Coffin-Siris_syndrome_1	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	.	.	0.000998403	0.0042	0	0	0	.	0.0105	0.0085	0.0020	0.0005304	82	154602	rs375160616	0.0057	0.0054	0.0059	0.0056	0.0212	0.0056	0.0056	0.0179	0.0167	0.0019	0.0047	0.0101	3.289e-05	0.0014	0.0212	0.0063	0.0058	0.0025	0.0047	0.0047	0.0055	0.0040	0.0076	0.0044	0.0043	0.0065	0.0060	0.0012	0.0541	0.0076	0.0090	0	0.0014	0.0208	0.0063	0.0077	0.0019	0.0	0.91255	D	0.502	0.11115	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	0.99806	0.22374	N	1.1	0.28011	L	3.73	0.03982	T	-0.54	0.16598	N	0.119	0.10911	-0.9001	0.47983	T	0.003	0.00897	T	9	0.0049165785	0.00105	T	.	.	.	0.060	0.17295	.	.	0.0934897674506	0.08844	0.13403362991275802	0.13327	0.291417743539	0.31552	0.872212529182	0.92884	D	0.01296	0.11294	T	-0.646012	0.00077	T	-0.697839	0.05944	T	0.0762739138226754	0.09504	T	0.514549	0.19192	T	0.19176523	0.40818	0.24653356	0.50165	0.15059175	0.34276	0.19889103	0.43743	-4.616	0.32372	T	.	.	0.078	0.06756	B	.;.;.;.	.;.;.;.	2.943074	0.39137	20.9	0.97329888956382771	0.33418	0.06818	0.12842	N	AEFDBHCIJ	0.048428	0.08264	N	-0.610752536718014	0.18620	0.9681884	-0.499574705844725	0.22166	1.202612	0.999999168842093	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.47417	0.07244	0	0.492483	0.08430	1	.	.	2.65	1.31	0.20837	0.438000	0.21277	7.060000	0.57403	0.397000	0.20528	0.992000	0.37556	1.000000	0.68203	0.962000	0.52141	0.4178:0.0:0.5822:0.0	4.791	0.12619	931	0.16308	.;.;.;.	.	.	.	.	.	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	0.015432	0.000000	0.000000	0.053922	0.000000	0.000000	0.000000	0.014286	0.07895	2670.79	33	chr6	156778665	.	G	A	2670.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.35;DP=768;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.589;SOR=0.719	GT:AD:DP:GQ:PL	0/1:33,51:84:99:1303,0,652	16	0	3	0
chr6	160611568	160611568	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon16:c.C2597G:p.P866R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0127548007303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	1.368e-06	1.368e-06	1.381e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	-1.36	0.33798	N	0.809	0.80473	-0.7682	0.56956	T	0.334	0.70101	T	9	0.40342203	0.55726	T	0.012755	0.31594	T	0.325	0.64725	.	.	0.270889551736	0.26708	0.09657674667738678	0.09589	0.276980395217	0.30167	0.822685778141	0.85440	D	.	.	.	0.0133556	0.53483	T	-0.218592	0.52872	T	0.762645895961664	0.44004	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.72230	P	.;.	.;.	4.367441	0.67210	25.1	0.99746773188114712	0.83927	0.81097	0.40574	D	AEFGBI	0.143923	0.26676	N	0.321782676095123	0.57267	3.893534	0.112046751455019	0.45162	2.784461	5.4153323545489E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.17	2.17	0.26736	5.375000	0.65926	10.825000	0.83858	0.340000	0.19754	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	7.828	0.28490	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	1509.33	105	chr6	160611568	.	G	C	1509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.67;DP=1627;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.53;MQRankSum=-1.45;QD=8.29;ReadPosRankSum=-0.749;SOR=0.672	GT:AD:DP:GQ:PL	0/1:111,71:182:99:1523,0,2957	18	0	1	0
chr6	167976202	167976202	G	0	exonic	HGC6.3	.	.	.	.	547	870	80	2	23	107	0.0460526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5720.2	79	chr6	167976202	.	G	*	5720.2	.	AC=3;AF=0.083;AN=36;BaseQRankSum=0.631;DP=1057;ExcessHet=2.9153;FS=4.05;InbreedingCoeff=-0.2472;MLEAC=3;MLEAF=0.083;MQ=53.24;MQRankSum=2.93;QD=10.77;ReadPosRankSum=0.818;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,28:77:99:0|1:167976186_T_C:1028,0,1953:167976186	15	0	3	1
chr6	167976212	167976212	A	0	exonic	HGC6.3	.	.	.	.	463	956	84	1	18	104	0.043043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	5284.85	73	chr6	167976212	.	A	*	5284.85	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.889;DP=1048;ExcessHet=0.7503;FS=4.987;InbreedingCoeff=0.0409;MLEAC=3;MLEAF=0.088;MQ=51.56;MQRankSum=2.66;QD=9.99;ReadPosRankSum=0.83;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,28:77:99:0|1:167976186_T_C:1028,0,1953:167976186	14	0	3	2
chr6	167976228	167976228	T	0	exonic	HGC6.3	.	.	.	.	453	974	78	0	17	95	0.0384995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	4068.23	72	chr6	167976228	.	T	*	4068.23	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.79;DP=1040;ExcessHet=3.116;FS=7.088;InbreedingCoeff=-0.0808;MLEAC=3;MLEAF=0.088;MQ=50.27;MQRankSum=1.4;QD=7.84;ReadPosRankSum=-0.382;SOR=1.01	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,28:77:99:0|1:167976186_T_C:1028,0,1953:167976186	14	0	3	2
chr6	167976244	167976288	TGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.365_409del:p.Q122_T137delinsP	.	435	1081	5	0	1	6	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0006	0	0.0003	0.0001921	5	26028	rs773489020	0.0019	0.0015	0.0016	0.0022	0.0099	0.0018	0.0018	0.0092	0.0089	0.0002	0.0028	0.0029	0.0085	0.0063	0.0010	0.0012	0.0026	0.0099	0.0051	0.0049	0.0043	0.0059	0.0156	0.0047	0.0046	0.0117	0.0104	0.0021	0.0075	0.0079	0.0035	0.0156	0.0071	0	0.0051	0.0079	0.0110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3195.76	59	chr6	167976243	.	GTGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	G	3195.76	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.009;DP=969;ExcessHet=0.3672;FS=2.119;InbreedingCoeff=-0.0858;MLEAC=3;MLEAF=0.079;MQ=57.47;MQRankSum=-1.437;QD=11.02;ReadPosRankSum=0.235;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,26:74:99:0|1:167976186_T_C:947,0,1937:167976186	16	0	3	0
chr6	167976245	167976245	G	0	exonic	HGC6.3	.	.	.	.	448	1014	2	0	58	60	0.000985222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3812.41	67	chr6	167976245	.	G	*	3812.41	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.134;DP=990;ExcessHet=0.6689;FS=6.063;InbreedingCoeff=0.05;MLEAC=3;MLEAF=0.079;MQ=50.69;MQRankSum=-0.375;QD=8.03;ReadPosRankSum=-0.369;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,26:74:99:0|1:167976186_T_C:947,0,1937:167976186	16	0	3	0
chr6	167976249	167976291	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	0	exonic	HGC6.3	.	.	.	.	467	870	90	30	65	215	0.0793651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	6299.23	29	chr6	167976249	.	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	*	6299.23	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.61;DP=951;ExcessHet=0.145;FS=3.209;InbreedingCoeff=0.2692;MLEAC=3;MLEAF=0.079;MQ=53.73;MQRankSum=-4.637;QD=11.64;ReadPosRankSum=-0.112;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,26:74:99:1|0:167976186_T_C:971,0,1601:167976186	16	0	3	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	770.82	29	chr6	167976271	.	T	*	770.82	.	AC=8;AF=0.222;AN=36;BaseQRankSum=3.2;DP=918;ExcessHet=0.0665;FS=4.958;InbreedingCoeff=0.3504;MLEAC=8;MLEAF=0.222;MQ=51.17;MQRankSum=-5.196;QD=1.72;ReadPosRankSum=-0.883;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,26:74:99:1|0:167976186_T_C:971,0,1601:167976186	12	2	4	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3205.38	29	chr6	167976273	.	A	*	3205.38	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.21;DP=943;ExcessHet=0.0378;FS=5.934;InbreedingCoeff=0.3968;MLEAC=9;MLEAF=0.25;MQ=56.14;MQRankSum=-2.716;QD=6.51;ReadPosRankSum=0.409;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,26:74:99:1|0:167976186_T_C:971,0,1601:167976186	11	2	5	1
chr6	167976313	167976313	T	C	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.A340G:p.M114V	.	462	1045	14	0	1	15	0.00665399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0018826	49	26028	rs36129172	0.0024	0.0016	0.0021	0.0028	0.0160	0.0023	0.0023	0.0148	0.0144	0.0001	0.0052	0.0046	0.0042	0.0082	0.0017	0.0016	0.0033	0.0160	0.0057	0.0064	0.0050	0.0065	0.0131	0.0053	0.0052	0.0093	0.0080	0.0021	0.0132	0.0092	0.0042	0.0131	0.0071	0	0.0062	0.0079	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007812	0.000000	0.046667	0.000000	0.000000	0.045455	0.000000	0.000000	0.07895	2469.79	40	chr6	167976313	.	T	C	2469.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.19;DP=941;ExcessHet=0.3672;FS=11.906;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.63;MQRankSum=-1.376;QD=10.65;ReadPosRankSum=1.38;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,21:69:99:0|1:167976186_T_C:737,0,1952:167976186	16	0	3	0
chr6	167976332	167976332	G	0	exonic	HGC6.3	.	.	.	.	448	1017	42	0	15	57	0.0202312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1448.95	41	chr6	167976332	.	G	*	1448.95	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.375;DP=985;ExcessHet=1.3;FS=5.804;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.079;MQ=54.14;MQRankSum=1.4;QD=4.27;ReadPosRankSum=-0.056;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,18:70:99:.:.:637,0,1519:.	16	0	3	0
chr6	167976347	167976371	GGGGGTCATTCCCCCTGCAGTGTGG	-	exonic	HGC6.3	.	frameshift deletion	HGC6.3:NM_001129895:exon1:c.282_306del:p.H95Lfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1487569600	0.0016	0.0011	0.0014	0.0019	0.0089	0.0015	0.0015	0.0082	0.0079	0.0001	0.0043	0.0034	0.0024	0.0059	0.0012	0.0011	0.0022	0.0089	0.0043	0.0047	0.0038	0.0048	0.0084	0.0040	0.0038	0.0060	0.0052	0.0017	0.0076	0.0064	0.0036	0.0084	0.0045	0	0.0047	0.0061	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2157.63	47	chr6	167976346	.	TGGGGGTCATTCCCCCTGCAGTGTGG	T	2157.63	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.871;DP=1032;ExcessHet=0.7564;FS=9.385;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=55.02;MQRankSum=-0.624;QD=6.29;ReadPosRankSum=2.01;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,17:70:99:0|1:167976186_T_C:555,0,2137:167976186	16	0	3	0
chr6	167976349	167976349	G	0	exonic	HGC6.3	.	.	.	.	482	915	83	38	4	163	0.0799397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	6818.0	47	chr6	167976349	.	G	*	6818.0	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-0.091;DP=1029;ExcessHet=0.0665;FS=4.161;InbreedingCoeff=0.2706;MLEAC=2;MLEAF=0.059;MQ=53.61;MQRankSum=-1.638;QD=13.16;ReadPosRankSum=0.208;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,17:60:99:1|0:167976186_T_C:619,0,1185:167976186	15	0	2	2
chr6	167976380	167976415	GAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.238_273del:p.P80_F91del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1194754376	0.0015	0.0011	0.0013	0.0017	0.0082	0.0014	0.0014	0.0074	0.0072	0.0001	0.0031	0.0032	0.0022	0.0052	0.0006	0.0010	0.0021	0.0082	0.0038	0.0043	0.0034	0.0042	0.0072	0.0035	0.0034	0.0052	0.0045	0.0016	0.0069	0.0058	0.0027	0.0072	0.0043	0	0.0041	0.0048	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1746.75	74	chr6	167976379	.	AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	A	1746.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.679;DP=1083;ExcessHet=0.3672;FS=8.824;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=56.2;MQRankSum=-2.093;QD=7.04;ReadPosRankSum=1.17;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,16:68:99:0|1:167976186_T_C:515,0,2135:167976186	16	0	3	0
chr6	167976421	167976426	AGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.227_232del:p.V76_S78delinsA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1465520346	0.0015	0.0011	0.0013	0.0017	0.0083	0.0014	0.0014	0.0075	0.0072	0.0001	0.0042	0.0034	0.0019	0.0063	0.0006	0.0010	0.0020	0.0083	0.0037	0.0044	0.0034	0.0039	0.0072	0.0034	0.0033	0.0051	0.0043	0.0015	0.0076	0.0054	0.0034	0.0072	0.0034	0	0.0043	0.0048	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	1866.2	67	chr6	167976420	.	GAGAAGA	G	1866.2	.	AC=3;AF=0.088;AN=34;BaseQRankSum=0.709;DP=1044;ExcessHet=0.4139;FS=9.076;InbreedingCoeff=0.1556;MLEAC=3;MLEAF=0.088;MQ=56.37;MQRankSum=-1.778;QD=8.44;ReadPosRankSum=0.41;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,17:60:99:0|1:167976186_T_C:584,0,1747:167976186	14	0	3	2
chr6	168309084	168309084	C	A	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G163T:p.A55S,DACT2:NM_214462:exon4:c.G673T:p.A225S	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00439297	0.0098	0	0	0	0	0	0	0.0199	0.0009767	151	154602	rs369564273	0.0010	0.0010	0.0006	0.0015	0.0173	0.0010	0.0010	0.0166	0.0163	0	5.694e-05	4.046e-05	0	0	0.0004	1.864e-06	0.0008	0.0173	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	4.809e-05	0	0	0	0	0	0	0	0	0.0176	0.268	0.16144	T	0.42	0.35840	T	0.275	0.31898	B	0.044	0.24394	B	0.358958	0.04292	N	1.459890	1	0.08975	N	1.1	0.28011	L	0.93	0.44065	T	-0.31	0.12099	N	0.062	0.04188	-1.0220	0.23063	T	0.017	0.07140	T	10	0.0034857988	0.00062	T	.	.	.	0.042	0.11227	0.218	0.13932	0.0297737177859	0.01360	0.13618126405041434	0.13542	.	.	0.290269672871	0.08962	T	0.047023	0.27599	T	-0.634523	0.00090	T	-0.670599	0.07570	T	0.0100813937875837	0.00135	T	0.639636	0.27564	T	0.04924017	0.08713	0.04954314	0.07593	0.04924017	0.08713	0.04954314	0.07592	-3.475	0.20223	T	.	.	0.093	0.19478	B	.;.	.;.	1.211430	0.16047	12.28	0.90269805502209099	0.19539	0.15185	0.18786	N	AEFDBI	.	.	.	-0.989779431575013	0.08822	0.4150978	-1.02391737954167	0.09260	0.459693	0.956372199199118	0.28243	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	-0.849	0.10181	0.179000	0.16653	-0.273000	0.10332	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.065000	0.16320	0.0:0.2978:0.4111:0.2911	5.265	0.14906	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2480.33	37	chr6	168309084	.	C	A	2480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=898;ExcessHet=0;FS=3.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.027;SOR=0.954	GT:AD:DP:GQ:PL	0/1:103,96:199:99:2494,0,2560	18	0	1	0
chr6	170319088	170319088	A	T	exonic	FAM120B	.	nonsynonymous SNV	FAM120B:NM_001286379:exon2:c.A1734T:p.Q578H,FAM120B:NM_001286380:exon2:c.A1767T:p.Q589H,FAM120B:NM_032448:exon2:c.A1698T:p.Q566H	.	.	.	.	.	.	.	.	.	.	.	3668433	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00150823963937	.	0.000399361	0.0001	0	8.761e-05	0	0	0	0	0.0010	0.00011	17	154602	rs528688533	6.509e-05	6.635e-05	3.745e-05	9.325e-05	0.0010	5.417e-05	5.025e-05	0.0009	0.0008	0	0	0	0	0	0.0004	0	0.0001	0.0010	3.939e-05	3.937e-05	2.57e-05	5.369e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	0.0010	0.095	0.31235	T	0.119	0.36765	T	0.003	0.11197	B	0.004	0.10090	B	0.849573	0.07049	N	1.077590	0.999999	0.31438	N	1.61	0.41143	L	3.04	0.08810	T	-0.7	0.19933	N	0.114	0.10340	-0.9231	0.45126	T	0.005	0.01797	T	10	0.010505289	0.00233	T	0.001508	0.02343	T	0.036	0.09122	0.242	0.17524	0.134241683229	0.13084	0.22447498137674154	0.22362	0.171263718839	0.19293	0.381419330835	0.22458	T	0.021497	0.16731	T	-0.638336	0.00085	T	-0.735254	0.04093	T	0.0862902924418449	0.10772	T	0.60384	0.22664	T	0.025717065	0.01542	0.032413203	0.01973	0.025717065	0.01542	0.032413203	0.01973	-6.152	0.47533	T	.	.	0.269	0.50334	B	.;.;.	.;.;.	0.965331	0.13421	9.928	0.92679072381731309	0.22164	0.14878	0.18632	N	AEFBCI	0.036160	0.04771	N	-0.940164403439938	0.09915	0.4714132	-0.991439345610756	0.09977	0.4996163	0.0825032445717062	0.15902	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.62	-2.16	0.06684	0.194000	0.16941	-1.170000	0.06127	-0.047000	0.17328	0.571000	0.27513	0.000000	0.08366	0.982000	0.59238	0.4151:0.1888:0.2103:0.1857	0.418	0.00420	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	794.33	36	chr6	170319088	.	A	T	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=737;ExcessHet=0;FS=1.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=-0.592;SOR=0.312	GT:AD:DP:GQ:PL	0/1:20,27:47:99:808,0,619	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,28:56:99:.:.:1861,961,2299:.	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	0/1:19,17:36:91:.:.:91,0,201:.	2	0	16	1
chr7	3951025	3951025	C	T	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon6:c.C950T:p.A317V	.	434	1071	16	1	0	18	0.00833333	.	.	.	700050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0085	0.0125799	0.0078	0.0216	0.0023	0.0006	0.0003	0.0023	0.0066	0.0320	0.0071991	1113	154602	rs34775958	0.0050	0.0050	0.0043	0.0056	0.0329	0.0049	0.0048	0.0319	0.0315	0.0231	0.0028	0.0002	0.0004	0.0007	0.0038	0.0028	0.0060	0.0329	0.0096	0.0096	0.0095	0.0097	0.0364	0.0092	0.0090	0.0320	0.0303	0.0230	0.0066	0.0050	0.0003	0.0010	0.0008	0	0.0031	0.0123	0.0364	0.042	0.41637	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999956	0.52396	D	1.33	0.33268	L	3.99	0.03268	T	-3.3	0.65858	D	0.678	0.72120	-0.6564	0.62434	T	0.195	0.54826	T	10	0.00770694	0.00175	T	.	.	.	0.196	0.47777	.	.	0.255777322467	0.25185	0.6759865631059169	0.67536	0.209868010446	0.23458	0.511128723621	0.40381	T	0.174289	0.52346	T	-0.432515	0.01432	T	-0.36968	0.36927	T	0.0140382206372918	0.00272	T	0.951205	0.81406	D	0.33527955	0.55901	0.2910117	0.55125	0.33527955	0.55901	0.2910117	0.55124	-6.288	0.48627	T	.	.	0.282	0.58310	B	.;.;.	.;.;.	3.901854	0.56841	23.8	0.99934987773288686	0.99579	0.95430	0.64689	D	AEFDGBI	0.473567	0.51820	N	0.395774751339719	0.61191	4.317093	0.462141489088575	0.65502	4.831709	0.999999591343745	0.74766	0.638212	0.43195	0	0.657636	0.61667	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.51	5.51	0.81769	3.768000	0.55005	7.424000	0.58739	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.8501:0.1499:0.0	14.109	0.64638	927	0.17636	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.018939	0.02632	1098.33	35	chr7	3951025	.	C	T	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.79;DP=745;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=0.208;SOR=0.551	GT:AD:DP:GQ:PL	0/1:78,49:127:99:1112,0,2007	18	0	1	0
chr7	3951870	3951870	C	T	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_152744:exon7:c.C1100T:p.P367L	.	436	1069	16	1	0	18	0.00834879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	0.0022	0.00878594	0.0063	0.0008	0.0017	0.0007	0.0003	0.0025	0.0045	0.0335	0.0058602	906	154602	rs117824452	0.0048	0.0048	0.0040	0.0056	0.0349	0.0047	0.0047	0.0338	0.0334	0.0006	0.0015	0.0002	0.0004	0.0009	0.0043	0.0032	0.0049	0.0349	0.0032	0.0032	0.0025	0.0040	0.0387	0.0030	0.0029	0.0342	0.0324	0.0006	0.0066	0.0016	0.0003	0.0010	0.0008	0	0.0033	0.0043	0.0387	0.065	0.36310	T	0.089	0.40426	T	0.001	0.07471	B	0.001	0.04355	B	0.211193	0.16362	N	0.558200	1	0.08975	N	0.4	0.12274	N	1.65	0.27650	T	-0.06	0.07882	N	0.171	0.19055	-1.0166	0.24819	T	0.047	0.20235	T	10	0.0033321679	0.00058	T	.	.	.	0.037	0.09474	.	.	0.289098819767	0.28531	0.3866514553656123	0.38580	0.0699051351792	0.07831	0.273677051067	0.06626	T	0.029542	0.21146	T	-0.565598	0.00235	T	-0.559457	0.16428	T	0.00317257925574289	0.00033	T	0.0912909	0.00675	T	0.031342827	0.02956	0.031073846	0.01645	0.031342827	0.02955	0.031073846	0.01645	-4.137	0.25833	T	.	.	0.077	0.12465	B	.;.;.	.;.;.	0.375352	0.07474	4.114	0.84874161139894855	0.15549	0.02063	0.06153	N	AEFDBI	0.024184	0.01458	N	-1.40793052906374	0.02568	0.1135956	-1.5274725724055	0.02135	0.09773313	0.984601035554813	0.30745	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.87	-2.27	0.06458	-0.435000	0.07000	-1.666000	0.04955	-0.696000	0.04083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2262:0.2884:0.3911:0.0942	3.507	0.07254	927	0.17636	Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype;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	0	0	0.004536	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.018939	0.02632	804.33	34	chr7	3951870	.	C	T	804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.354;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=0.911;SOR=0.643	GT:AD:DP:GQ:PL	0/1:47,38:85:99:818,0,1021	18	0	1	0
chr7	4800263	4800263	G	A	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon13:c.C2890T:p.R964C	.	432	1053	37	0	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0006	0.00199681	0.0034	0.0003	0.0011	0	0	0.0030	0.0158	0.0159	0.0015459	239	154602	rs200704658	0.0011	0.0012	0.0009	0.0013	0.0161	0.0011	0.0011	0.0134	0.0124	0.0005	0.0007	0.0070	2.722e-05	2.062e-05	0.0161	0.0007	0.0024	0.0052	0.0010	0.0010	0.0009	0.0010	0.0060	0.0008	0.0008	0.0043	0.0037	0.0003	0	0.0011	0.0049	0	9.409e-05	0.0102	0.0009	0.0028	0.0060	0.061	0.37118	T	0.193	0.28210	T	0.001	0.07471	B	0.0	0.01387	B	0.586789	0.11089	N	0.824423	0.999999	0.08975	N	-0.035	0.05024	N	1.08	0.39401	T	-1.42	0.34992	N	0.087	0.06454	-1.0439	0.16148	T	0.040	0.17404	T	10	0.004285276	0.00086	T	.	.	.	0.012	0.01476	.	.	0.159798565429	0.15598	0.3952173417645482	0.39436	0.0535115294369	0.05900	0.273139417171	0.06555	T	0.004797	0.04217	T	-0.602885	0.00140	T	-0.635611	0.09992	T	0.00588679547701272	0.00065	T	0.717528	0.33029	T	0.05840386	0.11744	0.042782318	0.05176	0.05840386	0.11744	0.042782318	0.05175	-5.97	0.46028	T	.	.	0.076	0.06024	B	.	.	1.010739	0.13896	10.46	0.94012572603210043	0.24115	0.05531	0.11423	N	AEFBCI	0.085644	0.17362	N	-1.33126222504903	0.03324	0.1482498	-1.33676038859087	0.03964	0.1860297	0.999248373678898	0.38873	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.02	-1.93	0.07180	0.072000	0.14482	-0.581000	0.08376	-0.712000	0.03928	0.410000	0.26249	0.000000	0.08366	0.112000	0.18829	0.3372:0.2701:0.3927:0.0	5.244	0.14806	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	0.011819	0.000000	0.019126	0.005917	0.000000	0.008621	0.009494	0.019231	0.05263	2158.83	48	chr7	4800263	.	G	A	2158.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.97;DP=794;ExcessHet=0.119;FS=0.596;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.787;SOR=0.63	GT:AD:DP:GQ:PL	0/1:41,35:76:99:852,0,972	17	0	2	0
chr7	5967064	5967064	G	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.C53T:p.S18F,RSPH10B:NM_173565:exon3:c.C53T:p.S18F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0598829145343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.988	0.62325	D	0.694	0.53938	P	0.294475	0.03915	N	1.583530	0.960321	0.26151	N	1.995	0.54099	M	0.42	0.56937	T	-2.46	0.53736	N	0.237	0.26717	-0.8529	0.51767	T	0.293	0.66431	T	10	0.2821738	0.45796	T	0.059883	0.67815	D	0.250	0.55888	0.325	0.30711	0.537034694273	0.53353	0.3054105595686339	0.30454	.	.	0.510692000389	0.40320	T	0.021555	0.16767	T	-0.0749431	0.40534	T	-0.345427	0.39727	T	0.77496212720871	0.44740	D	0.740526	0.35940	T	0.10139629	0.23952	0.15439272	0.36238	0.10139629	0.23951	0.15439272	0.36237	-6.557	0.50724	T	.	.	0.096	0.18331	B	.;.;.	.;.;.	2.932783	0.38970	20.9	0.99664102506800933	0.78138	0.36593	0.25568	N	AEFGI	0.159015	0.28475	N	-0.089195827682142	0.37865	2.209233	-0.216554733827431	0.30941	1.746601	0.0213613938495533	0.13342	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.48	4.6	0.56512	2.271000	0.43023	7.129000	0.57618	-0.852000	0.02700	0.076000	0.22236	1.000000	0.68203	0.008000	0.08271	0.0783:0.0:0.9217:0.0	13.039	0.58292	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	.	.	.	.	.	.	.	.	0.08333	32.49	44	chr7	5967064	.	G	A	32.49	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.231;DP=766;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.2129;MLEAC=3;MLEAF=0.125;MQ=26.95;MQRankSum=0;QD=0.35;ReadPosRankSum=1.44;SOR=0.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,14:53:12:.:.:12,0,774:.	10	0	2	7
chr7	6430565	6430565	T	G	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_139179:exon6:c.A844C:p.M282L	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	7.7e-05	0.00599042	0.0039	0	0.0003	0.0001	0	0	0	0.0279	0.0031177	482	154602	rs368662898	0.0015	0.0015	0.0008	0.0021	0.0233	0.0014	0.0014	0.0224	0.0221	0.0001	6.79e-05	0	0	0	0.0003	2.623e-05	0.0016	0.0233	0.0008	0.0008	0.0005	0.0010	0.0236	0.0007	0.0006	0.0201	0.0188	7.228e-05	0	6.564e-05	0	0	0	0	2.942e-05	0	0.0236	0.009	0.57480	D	0.031	0.53788	D	0.512	0.37351	P	0.102	0.30857	B	0.000000	0.84330	D	0.041945	0.999951	0.81001	D	2.16	0.60381	M	0.88	0.46412	T	-1.92	0.47683	N	0.73	0.73105	-1.0609	0.11532	T	0.080	0.31556	T	10	0.007727146	0.00175	T	.	.	.	0.197	0.47942	0.612	0.74535	0.312001716656	0.30816	0.7069166920994722	0.70633	0.0508659047656	0.05589	0.508673071861	0.40037	T	0.171103	0.51909	T	-0.239216	0.15449	T	-0.0967969	0.63645	T	0.0606021324751123	0.07263	T	0.882612	0.60317	D	0.41977805	0.62077	0.43101916	0.66733	0.41977805	0.62077	0.43101916	0.66733	-9.478	0.70722	D	.	.	0.206	0.50952	B	.;.	.;.	2.995884	0.40013	21.1	0.9637306883594704	0.29590	0.92000	0.54724	D	AEFDGBHCI	0.634867	0.61458	D	0.0988441823876177	0.46409	2.881648	0.192421464973082	0.49431	3.146352	0.999999988898378	0.74766	0.712529	0.81865	0	0.653731	0.59785	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.15	3.98	0.45383	5.583000	0.67179	.	.	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0745:0.0:0.9255	11.470	0.49508	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003049	0.007576	0.02632	445.33	34	chr7	6430565	.	T	G	445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.433;DP=671;ExcessHet=0;FS=1.058;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.184;SOR=0.493	GT:AD:DP:GQ:PL	0/1:31,23:54:99:459,0,765	18	0	1	0
chr7	22162524	22162524	T	C	exonic	RAPGEF5	.	nonsynonymous SNV	RAPGEF5:NM_001367600:exon3:c.A392G:p.Y131C,RAPGEF5:NM_001367601:exon3:c.A392G:p.Y131C,RAPGEF5:NM_001367603:exon3:c.A392G:p.Y131C,RAPGEF5:NM_001367602:exon6:c.A56G:p.Y19C,RAPGEF5:NM_012294:exon13:c.A1301G:p.Y434C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00627045640428	.	0.00179712	0.0010	0	0.0002	0.0005	0	1.509e-05	0	0.0067	0.000815	126	154602	rs149012757	0.0004	0.0004	0.0002	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	0	2.238e-05	0	0.0002	0	0.0002	1.805e-06	0.0004	0.0063	0.0002	0.0002	0.0001	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0.0002	0	0	0	0.0005	0.0060	0.194	0.23183	T	0.178	0.29639	T	0.001	0.07471	B	0.002	0.06944	B	0.042757	0.01910	N	2.040290	0.997198	0.46406	D	-0.205	0.04094	N	1.57	0.29342	T	-1.68	0.40082	N	0.16	0.20395	-1.1054	0.03497	T	0.055	0.23300	T	10	0.005539596	0.00122	T	0.00627	0.16464	T	0.105	0.29889	.	.	0.043077524339	0.03247	0.32520143649516375	0.32433	0.45283389639	0.44990	0.604388356209	0.53524	T	0.040148	0.25430	T	-0.543132	0.00321	T	-0.550336	0.17294	T	0.0459040038917785	0.04766	T	0.869813	0.57716	D	0.12545061	0.29409	0.13612239	0.32571	0.12545061	0.29409	0.13612239	0.32570	-4.951	0.36303	T	.	.	0.068	0.05935	B	.;.;.;.	.;.;.;.	2.964917	0.39502	21.0	0.97794036019166775	0.36020	0.90935	0.52541	D	AEFBI	0.523787	0.54725	D	-0.326651006946374	0.28140	1.549618	-0.121708509640263	0.34517	1.986328	0.116957862905447	0.16790	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.32	4.15	0.47978	2.954000	0.48806	5.062000	0.47097	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.134:0.0:0.0:0.866	11.565	0.50052	845	0.36510	Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1306.33	52	chr7	22162524	.	T	C	1306.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.199;DP=878;ExcessHet=0;FS=5.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.72;SOR=0.324	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1320,0,1131	18	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:75,30:113:85:85,0,1342	10	0	9	0
chr7	47885922	47885922	C	T	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon18:c.G2969A:p.R990Q	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	419	1102	1	0	0	1	0.000453515	.	.	.	700109	not_provided|Heterotaxy,_visceral,_8,_autosomal	MedGen:C3661900|MONDO:MONDO:0014967,MedGen:C4310668,OMIM:617205	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00137267467748	0.0058	0.00179712	0.0037	0.0022	0.0010	0	0.0018	0.0059	0.0011	0.0007	0.0040038	619	154602	rs141646493	0.0063	0.0063	0.0065	0.0061	0.0076	0.0062	0.0061	0.0075	0.0074	0.0022	0.0011	0.0042	0	0.0013	0.0003	0.0076	0.0058	0.0006	0.0042	0.0042	0.0046	0.0037	0.0071	0.0039	0.0038	0.0066	0.0064	0.0025	0	0.0013	0.0032	0	0.0003	0.0034	0.0071	0.0038	0.0002	0.574	0.06106	T	0.645	0.06859	T	0.217	0.30183	B	0.011	0.15521	B	0.000000	0.00162	N	165.707000	1	0.08975	N	0.22	0.09567	N	2.11	0.19860	T	-0.17	0.09627	N	0.051	0.02272	-1.0339	0.19205	T	0.013	0.04843	T	10	0.004046321	0.00079	T	0.001373	0.01986	T	0.028	0.06331	.	.	0.417334834585	0.41349	0.10351698999999807	0.10281	0.11010610359	0.12427	0.162355750799	0.00013	T	0.015549	0.13024	T	-0.757664	0.00016	T	-0.851713	0.00938	T	0.00234658783613453	0.00024	T	0.394461	0.09873	T	0.034163415	0.03779	0.03656692	0.03128	0.034163415	0.03779	0.03656692	0.03128	-2.772	0.07928	T	0.11488898187744034	0.10216	0.081	0.08033	B	.	.	1.121079	0.15069	11.56	0.59940513460829592	0.06343	0.00624	0.02752	N	AEFBI	0.042471	0.06593	N	-1.78074339815358	0.00594	0.02559471	-1.88178693091269	0.00532	0.02357625	0.999929172862034	0.46280	0.516011	0.20929	0	0.563428	0.19063	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.97	-8.7	0.00738	-1.987000	0.01572	-7.145000	0.01221	-0.930000	0.02149	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1463:0.1646:0.3674:0.3217	1.902	0.03070	929	0.16858	PKD/REJ-like domain|REJ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1057.33	40	chr7	47885922	.	C	T	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.017;DP=750;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.698;SOR=0.986	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1071,0,822	18	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,20:124:99:.:.:169,0,3383:.	6	0	12	1
chr7	64266468	64266468	C	T	exonic	ZNF679	.	nonsynonymous SNV	ZNF679:NM_153363:exon5:c.C835T:p.R279C	.	473	1046	3	0	0	3	0.00143198	.	.	.	3354707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.000966326039745	0.0004	0.000199681	0.0011	0.0002	0.0015	0.0001	0	0.0014	0	0.0010	0.0009573	148	154602	rs201186568	0.0007	0.0007	0.0007	0.0008	0.0089	0.0007	0.0007	0.0069	0.0062	0.0001	0.0011	0.0105	2.523e-05	0.0002	0.0089	0.0005	0.0011	0.0009	0.0008	0.0008	0.0009	0.0007	0.0011	0.0007	0.0006	0.0007	0.0007	9.935e-05	0	0.0011	0.0069	0	0.0002	0.0037	0.0009	0.0024	0.0009	0.201	0.20306	T	0.247	0.23914	T	0.02	0.18235	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.985	0.53793	M	3.18	0.07478	T	-4.58	0.78807	D	0.083	0.05929	-0.9841	0.34045	T	0.020	0.08593	T	9	0.0076338053	0.00173	T	9.66E-4	0.00980	T	0.020	0.03691	.	.	0.383590876969	0.37966	0.013608247064917455	0.01318	0.00347536285003	0.00296	0.298056095839	0.10113	T	0.016076	0.13357	T	-0.609773	0.00127	T	-0.694225	0.06148	T	0.019466976296745	0.00650	T	0.381362	0.09225	T	0.09688403	0.22827	0.086845316	0.20148	0.09688403	0.22827	0.086845316	0.20148	-2.506	0.05822	T	.	.	0.268	0.50185	B	.;.	.;.	0.662917	0.10314	7.044	0.77140727996853165	0.11753	0.01142	0.04139	N	AEFBHCI	0.034042	0.04148	N	-1.00804558711832	0.08436	0.3955358	-1.13898375157503	0.06967	0.3372035	4.63713702724381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.81	0.81	0.17873	-0.935000	0.04059	.	.	-1.820000	0.00602	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6516:0.0:0.3484	3.244	0.06390	851	0.35303	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004237	0.000000	0.006793	0.008197	0.000000	0.000000	0.000000	0.000000	0.02632	1569.33	35	chr7	64266468	.	C	T	1569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=959;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.804;SOR=0.618	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1583,0,1608	18	0	1	0
chr7	80661160	80661160	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001127444:exon3:c.T379C:p.S127P,CD36:NM_001289908:exon3:c.T379C:p.S127P,CD36:NM_001289911:exon3:c.T151C:p.S51P,CD36:NM_001127443:exon4:c.T379C:p.S127P,CD36:NM_001289909:exon4:c.T379C:p.S127P,CD36:NM_000072:exon5:c.T379C:p.S127P,CD36:NM_001001547:exon5:c.T379C:p.S127P,CD36:NM_001001548:exon5:c.T379C:p.S127P,CD36:NM_001371074:exon5:c.T379C:p.S127P,CD36:NM_001371075:exon5:c.T379C:p.S127P,CD36:NM_001371077:exon5:c.T379C:p.S127P,CD36:NM_001371078:exon5:c.T379C:p.S127P,CD36:NM_001371079:exon5:c.T277C:p.S93P	Platelet glycoprotein IV deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.122618071719	.	0.000199681	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001552	24	154602	rs548507859	9.715e-05	9.713e-05	3.54e-05	0.0002	0.0016	8.377e-05	7.916e-05	0.0014	0.0013	0	2.236e-05	0	0	0	0	0	3.312e-05	0.0016	5.253e-05	5.25e-05	3.855e-05	6.714e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.71	0.94693	H	-1.47	0.81067	T	-4.57	0.79659	D	0.924	0.92784	0.613	0.92065	D	0.718	0.90320	D	9	0.32257318	0.49605	T	0.122618	0.80363	D	0.759	0.91795	0.504	0.59770	0.730772972519	0.72837	0.9702179346075819	0.97010	3.66727572043E-4	0.00038	0.547559142113	0.45513	T	0.642981	0.89074	D	0.124339	0.66805	D	0.375749	0.91278	D	0.758425235748291	0.43761	D	0.960704	0.85303	D	0.9777109	0.98930	0.9428837	0.97955	0.97743285	0.98908	0.9265366	0.96855	-8.685	0.68568	D	0.8074400174434955	0.88304	0.985	0.95479	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.548574	0.71561	25.7	0.99470010004951548	0.66259	0.91843	0.54383	D	AEFBCI	0.945092	0.95297	D	0.524015699851156	0.68514	5.227665	0.370642986413853	0.59762	4.156762	0.999994656320743	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.36	5.36	0.76624	6.959000	0.75826	7.902000	0.73606	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.325000	0.25087	0.0:0.0:0.0:1.0	14.339	0.66170	969	0.06854	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1040.33	47	chr7	80661160	.	T	C	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=839;ExcessHet=0;FS=5.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-2.729;SOR=1.268	GT:AD:DP:GQ:PL	0/1:60,41:101:99:1054,0,1481	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	0/1:142,30:174:59:.:.:59,0,5219:.	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,30:176:36:.:.:36,0,5243:.	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|1:62,51:113:99:0|1:100175805_G_C:1256,0,1865:100175805	1	0	18	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,67:135:99:0|1:100773851_A_G:5666,1950,1562:100773851	3	9	7	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	53133.8	110	chr7	100773854	.	G	*	53133.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.49;DP=2033;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=27;ReadPosRankSum=0.396;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,68:135:99:0|1:100773849_CCAT_C:5666,1938,1564:100773849	15	0	4	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	0/1:96,50:149:99:1840,0,3796	2	9	8	0
chr7	100952958	100952958	-	ACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC	exonic	MUC3A	.	nonframeshift insertion	MUC3A:NM_005960:exon2:c.1179_1180insACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC:p.E393_I394insTTSHSTPSFTSSAIYSTVNISTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.437e-05	0.0002	5.005e-05	1.772e-05	8.556e-05	1.103e-05	6.41e-06	1.522e-05	8.22e-06	0	0	8.556e-05	0	0	0	0	5.735e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6651.29	950	chr7	100952958	.	G	GACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC	6651.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.157;DP=12348;ExcessHet=0;FS=4.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.72;MQRankSum=-10.93;QD=9;ReadPosRankSum=-0.789;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:542,197:739:99:0|1:100952784_C_A:6665,0,21655:100952784	18	0	1	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|1:369,102:509:99:0|1:100953098_G_C:3172,0,15187:100953098	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	0/1:370,96:502:99:.:.:2917,0,15247:.	2	0	17	0
chr7	100957412	100957412	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C5633A:p.S1878Y	.	468	1046	7	1	0	9	0.00428367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010492342	0.0042	0.0037	0.0023	0.0060	0.0562	0.0041	0.0041	0.0545	0.0539	0.0002	0	0	8.263e-05	0	0.0014	9.114e-05	0.0031	0.0562	0.0031	0.0033	0.0015	0.0047	0.0958	0.0028	0.0028	0.0885	0.0857	0.0002	0	6.531e-05	0	0.0002	0	0	4.409e-05	0.0005	0.0958	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	0.004273385	0.00086	T	.	.	.	.	.	.	.	.	.	0.008749316577987172	0.00838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348865	0.08742	T	.	.	.	.	.	.	.	.	-7.98	0.60934	D	.	.	0.212	0.44069	B	.;.	.;.	0.930575	0.13055	9.562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.557000	0.06076	-0.848000	0.07190	0.431000	0.20936	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6777.33	865	chr7	100957412	.	C	A	6777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.03;DP=9371;ExcessHet=0;FS=2.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.76;ReadPosRankSum=-0.569;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,177:343:99:0|1:100957412_C_A:6791,0,6213:100957412	18	0	1	0
chr7	102467723	102467723	G	A	exonic	LRWD1	.	nonsynonymous SNV	LRWD1:NM_001317721:exon5:c.G122A:p.R41Q,LRWD1:NM_152892:exon5:c.G578A:p.R193Q	.	417	1086	16	3	0	22	0.0100273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0042	0.00279553	0.0073	0.0012	0.0048	0	0	0.0065	0.0155	0.0106	0.0021539	333	154602	rs75691611	0.0063	0.0061	0.0061	0.0065	0.0113	0.0062	0.0062	0.0107	0.0105	0.0013	0.0015	0.0145	2.797e-05	0.0011	0.0035	0.0065	0.0065	0.0113	0.0044	0.0044	0.0048	0.0039	0.0100	0.0041	0.0040	0.0077	0.0069	0.0012	0.0220	0.0022	0.0156	0	0.0011	0	0.0064	0.0033	0.0100	0.143	0.25355	T	0.046	0.49390	D	0.07	0.23866	B	0.003	0.08700	B	0.178910	0.17158	N	0.617387	0.980653	0.25096	N	1.455	0.36767	L	0.2	0.60111	T	-0.24	0.10833	N	0.131	0.12627	-1.0033	0.28963	T	0.100	0.37239	T	10	0.0036244392	0.00066	T	.	.	.	0.094	0.27141	.	.	0.451977122513	0.44822	0.18113014087520377	0.18032	0.0558576121021	0.06173	0.21189725399	0.00894	T	0.002701	0.02096	T	-0.624362	0.00103	T	-0.659242	0.08318	T	0.0122487797161882	0.00198	T	0.810019	0.46084	T	0.035308044	0.04132	0.051805	0.08411	0.035308044	0.04132	0.051805	0.08410	-3.688	0.19141	T	.	.	0.067	0.02342	B	.;.	.;.	1.991604	0.25300	16.71	0.98617556883053192	0.43731	0.07473	0.13489	N	AEFDBCI	0.051330	0.09060	N	-0.918712162103249	0.10404	0.4970483	-0.921791199566853	0.11580	0.5908304	0.998495800390485	0.37071	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.02	-4.02	0.03764	-1.068000	0.03558	-3.470000	0.02762	-0.734000	0.03706	0.092000	0.22623	0.000000	0.08366	0.090000	0.17789	0.7197:0.0:0.2803:0.0	11.838	0.51615	525	0.74024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001665	0.005435	0.000000	0.000000	0.000000	0.010000	0.000000	0.004167	0.02632	890.33	45	chr7	102467723	.	G	A	890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.486;SOR=0.614	GT:AD:DP:GQ:PL	0/1:31,34:65:99:904,0,783	18	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,33:157:59:.:.:59,0,3160:.	10	0	8	1
chr7	103652759	103652759	C	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon14:c.G1555T:p.V519F,RELN:NM_173054:exon14:c.G1555T:p.V519F	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	1	1519	1	0	1	2	0.000329056	0.9996	0.992	.	301362	Norman-Roberts_syndrome|not_provided|Familial_temporal_lobe_epilepsy_7	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	.	0.00119808	0.0010	0	0.0002	0	0	1.506e-05	0.0022	0.0072	0.0008538	132	154602	rs560704715	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0005	0.0068	0.0066	0	4.489e-05	0	2.524e-05	0	0.0002	5.67e-05	0.0006	0.0073	0.0003	0.0003	0.0002	0.0003	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0	0	0	5.884e-05	0	0.0075	0.024	0.48186	D	0.046	0.49120	D	0.435	0.39389	B	0.082	0.35019	B	0.002691	0.36102	N	0.284721	0.996511	0.43249	D	0.55	0.14455	N	1.85	0.24472	T	-1.14	0.29323	N	0.539	0.56662	-1.1105	0.03027	T	0.047	0.20116	T	10	0.009126127	0.00206	T	0.00972	0.25381	T	0.047	0.12962	0.367	0.37524	0.0934897674506	0.08844	0.5589908977042667	0.55826	0.299952561941	0.32355	0.421777904034	0.28081	T	0.07195	0.34334	T	-0.455621	0.01046	T	-0.423379	0.30689	T	0.0304841956976632	0.02064	T	0.942406	0.78384	D	0.1947224	0.41232	0.14760011	0.34923	0.1499188	0.34155	0.14656962	0.34718	-4.917	0.35925	T	0.16811009849536868	0.21002	0.091	0.13315	B	.;.;.	.;.;.	2.747940	0.36012	20.1	0.98912333214730308	0.48399	0.97719	0.76640	D	AEFBI	0.822859	0.74309	D	0.0664803017288062	0.44904	2.756077	0.21848163884495	0.50873	3.274898	0.945732586119712	0.27674	0.625279	0.40028	0	0.573888	0.26702	0	0.573888	0.23631	0	0.59522	0.37078	0	.	.	5.43	5.43	0.79006	1.814000	0.38610	1.127000	0.24293	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.617	0.95631	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	573.33	39	chr7	103652759	.	C	A	573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.996;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.622;SOR=0.892	GT:AD:DP:GQ:PL	0/1:30,21:51:99:587,0,884	18	0	1	0
chr7	103833594	103833594	G	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon3:c.C416G:p.T139S,RELN:NM_173054:exon3:c.C416G:p.T139S	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	1	1510	10	1	0	12	0.00395778	.	.	.	135567	not_specified|Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|Epilepsy,_familial_temporal_lobe,_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0700090,MedGen:CN030884,OMIM:600512,Orphanet:101046|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0005	0.0171725	0.0075	0.0004	0.0269	0.0644	0	0.0003	0.0055	0.0008	0.0070827	1095	154602	rs79471015	0.0031	0.0031	0.0032	0.0029	0.0732	0.0030	0.0030	0.0710	0.0701	0.0004	0.0224	0.0010	0.0732	0	0.0010	0.0003	0.0025	0.0009	0.0037	0.0037	0.0035	0.0039	0.0610	0.0034	0.0033	0.0554	0.0532	0.0006	0	0.0118	0.0006	0.0610	0	0	0.0004	0.0038	0.0015	0.099	0.30800	T	0.488	0.11621	T	0.074	0.24142	B	0.084	0.29270	B	0.000024	0.55875	D	0.115168	0.994417	0.42273	D	0.395	0.12235	N	1.86	0.24285	T	-0.83	0.23372	N	0.348	0.39558	-1.0504	0.14285	T	0.003	0.00929	T	10	0.0037332475	0.00069	T	.	.	.	0.074	0.21613	0.608	0.74063	0.339940258815	0.33601	0.29428215907676564	0.29341	0.209223215926	0.23394	0.59536075592	0.52250	T	0.060205	0.31322	T	-0.560275	0.00253	T	-0.511628	0.21148	T	0.0119427173139379	0.00187	T	0.70513	0.31558	T	0.15987913	0.35891	0.15249287	0.35876	0.17900828	0.38950	0.13038436	0.31330	-2.909	0.09233	T	0.34362294509344743	0.44123	0.157	0.34645	B	.;.;.	.;.;.	4.093837	0.60986	24.3	0.99020228216418849	0.50569	0.96212	0.68050	D	AEFDBI	0.881720	0.80930	D	-0.042132279242404	0.39955	2.364651	0.182950709575049	0.48914	3.101027	0.999833638802931	0.43792	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.33	5.33	0.75683	5.697000	0.67954	11.881000	0.98835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.393	0.94583	756	0.51065	Reeler domain|Reeler domain|Reeler domain;.;Reeler domain|Reeler domain|Reeler domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.000000	0.002924	0.000000	0.000000	0.009202	0.007576	0.02632	819.33	34	chr7	103833594	.	G	C	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.203;DP=703;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.639;SOR=0.522	GT:AD:DP:GQ:PL	0/1:45,34:79:99:833,0,1178	18	0	1	0
chr7	106905362	106905362	A	G	exonic	PIK3CG	.	nonsynonymous SNV	PIK3CG:NM_001282426:exon11:c.A3284G:p.K1095R,PIK3CG:NM_001282427:exon11:c.A3284G:p.K1095R,PIK3CG:NM_002649:exon11:c.A3284G:p.K1095R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0341314417915	.	0.000599042	0.0001	0	0	0	0	3.007e-05	0	0.0009	0.0001358	21	154602	rs542155244	9.852e-05	9.85e-05	6.126e-05	0.0001	0.0012	8.513e-05	7.983e-05	0.0010	0.0010	0	0	0	0	0	0	2.788e-05	0.0001	0.0012	7.221e-05	7.217e-05	7.709e-05	6.711e-05	0.0015	3.967e-05	3.125e-05	0.0007	0.0005	2.404e-05	0	0	0	0	0	0	4.41e-05	0	0.0015	0.021	0.49117	D	0.0	0.92824	D	0.999	0.77913	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.32	0.33002	L	-0.59	0.71543	T	-0.9	0.24244	N	0.366	0.41853	-0.4796	0.69381	T	0.394	0.74714	T	10	0.07025632	0.10194	T	0.034131	0.55463	D	0.292	0.61157	.	.	0.704749371114	0.70218	0.5538031424564215	0.55306	1.09453119836	0.77539	0.788957476616	0.80284	T	0.220155	0.58336	T	-0.214676	0.18726	T	-0.137491	0.60335	T	0.258283223762783	0.23240	T	0.882412	0.60266	D	0.22032808	0.44585	0.26981825	0.52866	0.22032808	0.44585	0.26981825	0.52865	-3.815	0.21029	T	.	.	0.133	0.30608	B	.;.;.	.;.;.	4.518023	0.70818	25.6	0.99906633852298188	0.97726	0.99827	0.99715	D	AEFBI	0.928930	0.91391	D	0.619136213900379	0.74387	6.123885	0.672791037164299	0.80320	7.272372	0.999999999621169	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.596491	0.31596	0	0.668105	0.65232	0	.	.	5.94	5.94	0.96165	8.911000	0.92272	11.255000	0.90877	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.407	0.83529	287	0.88635	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1578.33	36	chr7	106905362	.	A	G	1578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.982;SOR=0.668	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1592,0,1257	18	0	1	0
chr7	117531068	117531068	T	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon4:c.T443C:p.I148T	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	1	1481	40	0	0	40	0.0133245	.	.	YES	47455	not_provided|not_specified|Cystic_fibrosis|CFTR-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C5924204	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.566	0.470015243051	0.0005	0.00139776	0.0019	0	0.0016	0	0	0.0014	0.0045	0.0068	0.0017917	277	154602	rs35516286	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0015	0.0060	0.0059	0.0002	0.0014	0	0	0.0001	0.0069	0.0013	0.0016	0.0065	0.0010	0.0010	0.0009	0.0012	0.0050	0.0009	0.0008	0.0034	0.0029	0.0001	0	0.0006	0	0	0.0002	0.0034	0.0016	0.0024	0.0050	0.347	0.18246	T	0.002	0.79402	D	0.29	0.32311	B	0.375	0.43710	B	0.000003	0.62929	D	0.101923	1	0.81001	D	0.69	0.16971	N	-2.45	0.91533	D	-0.68	0.19509	N	0.824	0.81957	0.195	0.85830	D	0.680	0.88926	D	9	0.01625809	0.00342	T	0.470015	0.94664	D	0.566	0.82289	.	.	0.998848891978	0.99883	0.9133943498492195	0.91313	0.0037552309061	0.00325	0.52395015955	0.42183	T	0.484044	0.81152	T	-0.124879	0.32329	T	0.0514297	0.73678	D	0.0436109125824296	0.04350	T	0.953805	0.83186	D	0.4518071	0.64155	0.31101498	0.57109	0.41221425	0.61570	0.3604569	0.61487	-4.629	0.34404	T	0.25147133547124706	0.34029	0.122	0.50063	B	.;.;.;.;.	.;.;.;.;.	3.972076	0.58326	24.0	0.99784997268737652	0.87131	0.98240	0.80839	D	AEFDI	0.977344	0.99718	D	0.222097987727501	0.52271	3.40233	0.385256298779943	0.60654	4.25553	0.999999986768859	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	7.608000	0.82114	7.931000	0.75020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.314	0.82741	791	0.46100	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.009063	0.015152	0.002717	0.008772	0.050000	0.000000	0.003049	0.030303	0.02632	1409.33	34	chr7	117531068	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.347;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1423,0,1393	18	0	1	0
chr7	122304185	122304185	T	C	exonic	FEZF1	.	nonsynonymous SNV	FEZF1:NM_001024613:exon1:c.A253G:p.S85G,FEZF1:NM_001160264:exon1:c.A253G:p.S85G	Hypogonadotropic hypogonadism 22, with or without anosmia, Autosomal recessive	412	1102	8	0	0	8	0.00361664	.	.	.	710735	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00159744	0.0063	0.0015	0.0016	0	0.0151	0.0080	0.0082	0.0056	0.0057114	883	154602	rs145467198	0.0073	0.0073	0.0075	0.0072	0.0083	0.0072	0.0072	0.0081	0.0081	0.0008	0.0021	0.0002	0	0.0115	0.0016	0.0083	0.0061	0.0046	0.0058	0.0058	0.0054	0.0062	0.0081	0.0054	0.0053	0.0075	0.0073	0.0011	0.0186	0.0014	0	0	0.0194	0.0068	0.0081	0.0057	0.0041	0.237	0.19639	T	0.429	0.13752	T	0.0	0.02946	B	0.0	0.04355	B	0.113183	0.19326	N	0.594923	1	0.08975	N	0.805	0.20218	L	3.26	0.06762	T	-1.04	0.29933	N	0.04	0.03069	-0.9668	0.37854	T	0.008	0.02884	T	10	0.0033794641	0.00059	T	.	.	.	0.033	0.08068	.	.	0.143124449307	0.13826	0.08257773273853848	0.08192	.	.	0.377162784338	0.21853	T	0.120079	0.44206	T	-0.687771	0.00043	T	-0.751317	0.03434	T	0.00615131357479197	0.00068	T	0.577142	0.20757	T	0.17279536	0.37990	0.053713486	0.09100	0.13977304	0.32274	0.053713486	0.09100	-3.813	0.20999	T	.	.	0.143	0.42621	B	.;.	.;.	1.709595	0.21770	15.34	0.83917002608794677	0.14993	0.52300	0.29099	D	AEFDBHCI	0.133340	0.25297	N	-0.43789162631349	0.24151	1.302128	-0.26752180921208	0.29174	1.632477	0.999985397465821	0.51787	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.65	3.46	0.38718	0.633000	0.24289	0.652000	0.20426	0.660000	0.55035	0.121000	0.23193	0.274000	0.24066	0.989000	0.64315	0.1306:0.0891:0.2014:0.5788	2.394	0.04117	697	0.58201	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001512	0.005051	0.000000	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	2202.33	34	chr7	122304185	.	T	C	2202.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=831;ExcessHet=0;FS=2.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.926;SOR=0.676	GT:AD:DP:GQ:PL	0/1:82,80:162:99:2216,0,2111	18	0	1	0
chr7	123582083	123582083	T	C	splicing	NDUFA5	NM_001291304:exon3:c.86-2A>G	.	.	.	563	874	78	7	0	92	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0111803	291	26028	rs184260455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0095	0.0095	0.0099	0.0092	0.0329	0.0091	0.0090	0.0287	0.0272	0.0021	0.0044	0.0125	0.0421	0.0006	0.0018	0.0306	0.0118	0.0133	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	341.33	30	chr7	123582083	.	T	C	341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.909;DP=593;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.298;SOR=0.519	GT:AD:DP:GQ:PL	0/1:14,17:31:99:355,0,351	18	0	1	0
chr7	127584383	127584383	C	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon1:c.G800A:p.R267K	.	420	1043	58	1	0	60	0.027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0018	0.00638978	0.0056	0.0004	0.0016	0	0.0005	0.0026	0.0066	0.0291	0.0050517	781	154602	rs138102764	0.0034	0.0034	0.0026	0.0043	0.0279	0.0033	0.0033	0.0270	0.0266	0.0003	0.0023	0.0006	0	0.0004	0.0229	0.0019	0.0038	0.0279	0.0027	0.0027	0.0023	0.0030	0.0303	0.0024	0.0024	0.0263	0.0248	0.0006	0	0.0043	0.0009	0	0.0008	0.0102	0.0022	0.0033	0.0303	0.453	0.08917	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000667	0.42516	D	0.190780	0.999648	0.20796	N	0.485	0.13215	N	1.38	0.34050	T	0.28	0.04233	N	0.041	0.01421	-1.0614	0.11410	T	0.033	0.14247	T	10	0.0024884343	0.00037	T	.	.	.	0.039	0.10176	.	.	0.259272394797	0.25527	0.14846000036410614	0.14767	0.290926297989	0.31498	0.41342741251	0.26931	T	0.003942	0.03353	T	-0.612989	0.00121	T	-0.632343	0.10237	T	0.011415544642949	0.00170	T	0.758424	0.38228	T	0.17335048	0.38077	0.1152832	0.27828	0.17335048	0.38077	0.1152832	0.27828	-3.592	0.17742	T	.	.	0.078	0.06942	B	.	.	1.632260	0.20842	14.93	0.95869824457554875	0.28044	0.15793	0.19084	N	AEFDBCI	0.118305	0.23139	N	-0.647524857567942	0.17533	0.9029837	-0.502813967842771	0.22076	1.197333	0.999998908618464	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.91	4.85	0.62375	1.417000	0.34378	1.721000	0.28260	0.599000	0.40250	0.036000	0.20778	0.929000	0.28499	0.989000	0.64315	0.0:0.9112:0.0:0.0888	13.206	0.59220	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.014946	0.017544	0.000000	0.017241	0.015244	0.022727	0.07895	6862.79	43	chr7	127584383	.	C	T	6862.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.111;DP=1094;ExcessHet=0.3672;FS=1.096;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.496;SOR=0.74	GT:AD:DP:GQ:PL	0/1:60,78:138:99:2139,0,1638	16	0	3	0
chr7	128850057	128850057	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001458:exon31:c.G5281A:p.A1761T	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	2	1518	2	0	0	2	0.000658328	.	.	.	456640	not_specified|not_provided|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Myofibrillar_myopathy_5|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.205	0.0675341140394	8.2e-05	.	0.0003	0	0	0	0	0	0	0.0006	4.53e-05	7	154602	rs376023896	5.038e-05	5.131e-05	3.414e-05	6.701e-05	0.0004	4.061e-05	3.724e-05	0.0003	0.0003	9.431e-05	5.544e-05	0	8.318e-05	0	0.0004	1.665e-05	0.0001	0.0004	2.627e-05	2.625e-05	0	5.374e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.396	0.10623	T	0.408	0.14633	T	0.0	0.02946	B	0.0	0.01387	B	0.601199	0.05647	N	1.256630	1	0.22259	N	0	0.06538	N	-1.92	0.84773	D	-0.25	0.11008	N	0.089	0.06720	-0.8570	0.51477	T	0.281	0.65299	T	10	0.02578628	0.00762	T	0.067534	0.70193	D	0.205	0.49236	.	.	0.313793572803	0.30980	0.14684337731535502	0.14606	0.268453480664	0.29359	0.507365942001	0.39854	T	0.124825	0.45012	T	-0.457854	0.01014	T	-0.579296	0.14607	T	0.0175503277345762	0.00489	T	0.268573	0.04475	T	0.018550621	0.00377	0.035805933	0.02901	0.018550621	0.00376	0.035805933	0.02901	-4.216	0.26983	T	.	.	0.066	0.02145	B	.	.	-0.072174	0.03811	0.809	0.87569532218085455	0.17322	0.01571	0.05128	N	AEFBI	0.034719	0.04350	N	-1.36752715358219	0.02947	0.1309225	-1.35977112992375	0.03692	0.1727444	0.943335914867353	0.27564	0.706548	0.73137	0	0.588015	0.36545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.09	-3.82	0.04000	-2.434000	0.01097	-1.022000	0.06576	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.178000	0.21234	0.4396:0.1157:0.4447:0.0	7.454	0.26427	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1264.33	36	chr7	128850057	.	G	A	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.068;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.72;SOR=0.637	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1278,0,1049	18	0	1	0
chr7	131443625	131443625	C	G	exonic	MKLN1	.	nonsynonymous SNV	MKLN1:NM_001321316:exon11:c.C697G:p.L233V,MKLN1:NM_013255:exon11:c.C1318G:p.L440V,MKLN1:NM_001145354:exon12:c.C1249G:p.L417V	.	434	1086	2	0	0	2	0.000919963	.	.	.	3989244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0395485690585	.	.	0.0001	0.0002	0	0	0	4.495e-05	0	0.0007	0.00011	17	154602	rs201682593	0.0001	0.0001	6.534e-05	0.0001	0.0013	8.915e-05	8.399e-05	0.0011	0.0010	2.987e-05	4.472e-05	0	0	0	0.0005	2.068e-05	0.0001	0.0013	5.252e-05	5.905e-05	5.139e-05	5.37e-05	0.0012	2.555e-05	1.829e-05	0.0005	0.0004	0	0	0	0	0	0	0	2.94e-05	0	0.0012	0.11	0.29554	T	0.59	0.08361	T	0.915	0.50599	P	0.395	0.44317	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	-0.76	0.73417	T	-0.88	0.23808	N	0.526	0.55540	-0.5805	0.65597	T	0.323	0.69186	T	10	0.055661976	0.06118	T	0.039549	0.58871	D	0.211	0.50185	0.328	0.31196	0.322865848456	0.31899	0.31377487933613035	0.31290	0.556748901551	0.52318	0.69594848156	0.66559	T	0.029022	0.52939	T	-0.156191	0.27349	T	-0.0475749	0.67189	D	0.0447443119095727	0.04555	T	0.960304	0.85063	D	0.2514296	0.48152	0.18886991	0.42202	0.2514296	0.48152	0.18886991	0.42201	-6.705	0.51848	T	.	.	0.125	0.27313	B	.;.	.;.	3.492457	0.48818	22.7	0.99641072485661131	0.76695	0.87007	0.46420	D	AEFDBHCIJ	0.776186	0.70937	D	0.308378157259333	0.56579	3.822669	0.435325068352205	0.63781	4.618729	1.0	0.98316	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	6.039000	0.70611	7.620000	0.62269	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.174	0.93579	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	720.33	35	chr7	131443625	.	C	G	720.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.518;DP=691;ExcessHet=0;FS=3.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.268;SOR=1.134	GT:AD:DP:GQ:PL	0/1:41,32:73:99:734,0,1092	18	0	1	0
chr7	143720135	143720135	T	C	exonic	TCAF2	.	nonsynonymous SNV	TCAF2:NM_001130026:exon2:c.T584C:p.I195T,TCAF2:NM_001365428:exon2:c.T233C:p.I78T,TCAF2:NM_001363538:exon3:c.T1076C:p.I359T,TCAF2:NM_001365429:exon3:c.T1076C:p.I359T,TCAF2:NM_001365430:exon3:c.T1076C:p.I359T,TCAF2:NM_173678:exon3:c.T1076C:p.I359T	.	510	1011	1	0	0	1	0.000494315	.	.	.	3619481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.192	0.0131847163855	.	.	0.0005	0.0005	0.0010	0.0047	0	0.0003	0	0.0002	3.84e-05	1	26028	rs745514557	0.0001	0.0001	9.415e-05	0.0001	0.0005	9.27e-05	8.759e-05	0.0004	0.0003	0.0002	9.434e-05	0	0.0005	0.0001	0.0005	7.351e-05	0.0002	0.0002	0.0001	0.0002	0.0001	0.0002	0.0006	9.759e-05	8.136e-05	0.0002	0.0001	0.0003	0	0	0	0.0006	0	0	7.557e-05	0.0005	0.0004	0.002	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.97	0.72226	D	0.000416	0.44736	N	0.225469	0.835366	0.34982	D	.	.	.	1.58	0.29085	T	-4.23	0.75935	D	0.424	0.54322	-0.7934	0.55532	T	0.162	0.49748	T	10	0.037774086	0.02153	T	0.013185	0.32380	T	0.192	0.47115	.	.	0.112648838833	0.10856	0.8560199374833595	0.85564	.	.	0.486972659826	0.37019	T	0.203639	0.56217	T	-0.348815	0.04802	T	-0.309203	0.43744	T	0.193170607089996	0.20029	T	0.808919	0.48291	T	0.4015814	0.60842	0.2982624	0.55859	0.4015814	0.60842	0.2982624	0.55859	-11.245	0.80984	D	.	.	0.149	0.62018	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.097044	0.61058	24.3	0.99775780032958072	0.86346	0.95133	0.63559	D	AEFI	0.548549	0.56179	D	0.365105244953295	0.59541	4.134445	0.22361526686531	0.51160	3.301045	6.64337990991432E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.43	0.923	0.18539	4.686000	0.61388	3.485000	0.38675	0.331000	0.19555	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.2288:0.0:0.7712	6.593	0.21853	773	0.48803	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	599.81	38	chr7	143720135	.	T	C	599.81	.	AC=2;AF=0.053;AN=38;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=36.25;QD=26.08;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,23:23:69:627,69,0	18	1	0	0
chr7	143935633	143935633	C	A	exonic	OR2F2	.	nonsynonymous SNV	OR2F2:NM_001004685:exon1:c.C401A:p.A134D	.	.	.	.	.	.	.	.	.	.	.	3466224	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.00455951978611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.783	0.44368	P	0.282	0.40384	B	0.184250	0.17019	N	0.493190	0.98124	0.25054	N	2.585	0.75554	M	6.64	0.00513	T	-2.63	0.56466	D	0.286	0.32370	-0.8698	0.50544	T	0.002	0.00526	T	10	0.21318123	0.37801	T	0.00456	0.11252	T	0.100	0.28662	0.655	0.79276	0.281381271821	0.27740	0.2033227963804103	0.20249	0.0228964277873	0.02319	0.235775142908	0.02423	T	0.010439	0.09426	T	-0.170843	0.25106	T	-0.483181	0.24108	T	0.85689389705658	0.50771	D	.	.	.	0.5782518	0.71513	0.38568527	0.63479	0.5782518	0.71514	0.38568527	0.63479	-6.703	0.51833	T	.	.	0.147	0.32541	B	.	.	1.584433	0.20273	14.67	0.99117121543296349	0.52880	0.45317	0.27512	N	AEFBI	0.290591	0.40193	N	-0.453303501527686	0.23627	1.270183	-0.583102779269228	0.19934	1.071728	0.999154480295707	0.38592	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.49	0.462	0.15906	-0.394000	0.07357	-3.461000	0.02769	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.591:0.0:0.409	6.188	0.19722	867	0.32089	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	3246.33	40	chr7	143935633	.	C	A	3246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.264;DP=1381;ExcessHet=0;FS=1.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.723;SOR=0.582	GT:AD:DP:GQ:PL	0/1:119,122:241:99:3260,0,3258	18	0	1	0
chr7	144004429	144004429	G	A	exonic	OR6B1	.	nonsynonymous SNV	OR6B1:NM_001005281:exon1:c.G433A:p.A145T	.	423	1097	2	0	0	2	0.000910747	.	.	.	2355336	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0084656196558	0.0005	0.000199681	0.0004	0.0003	0.0003	0	0	0.0006	0.0022	0.0002	0.0004657	72	154602	rs199611986	0.0006	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0003	0.0003	3.826e-05	2.519e-05	0	0.0002	0.0008	0.0005	8.115e-05	0.0004	0.0004	0.0005	0.0004	0.0010	0.0003	0.0003	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0	0.0006	0.0005	0	0.117	0.28271	T	0.081	0.41742	T	0.014	0.16867	B	0.066	0.27432	B	0.222991	0.16094	U	0.446857	1	0.08975	N	1.975	0.53506	M	1.18	0.37746	T	-2.27	0.50666	N	0.066	0.03841	-1.0051	0.28427	T	0.094	0.35658	T	10	0.021441102	0.00513	T	0.008466	0.22407	T	0.057	0.16321	.	.	0.56542871222	0.56207	0.28893609201673026	0.28806	0.10137496304	0.11470	0.247465163469	0.03505	T	0.006137	0.05579	T	-0.471859	0.00828	T	-0.475196	0.24959	T	0.0437117070978054	0.04368	T	.	.	.	0.09947201	0.23476	0.12914696	0.31057	0.09947201	0.23476	0.12914696	0.31057	-5.452	0.41417	T	.	.	0.129	0.27851	B	.;.	.;.	1.398779	0.18123	13.56	0.98232326464742581	0.39405	0.18360	0.20228	N	AEFI	0.091213	0.18478	N	-0.588339617714022	0.19297	1.008886	-0.585597249307344	0.19869	1.067936	0.0205966901198204	0.13272	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	4.38	0.52019	1.158000	0.31347	4.877000	0.45627	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.180000	0.21296	0.0:0.1539:0.8461:0.0	13.838	0.62917	889	0.27310	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	.	.	.	.	.	.	.	.	0.02632	2654.33	34	chr7	144004429	.	G	A	2654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.014;DP=1009;ExcessHet=0;FS=5.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.131;SOR=1.04	GT:AD:DP:GQ:PL	0/1:114,106:220:99:2668,0,2933	18	0	1	0
chr7	149725353	149725353	G	A	exonic	KRBA1	.	nonsynonymous SNV	KRBA1:NM_001290187:exon10:c.G1267A:p.A423T,KRBA1:NM_032534:exon10:c.G1165A:p.A389T	.	418	1094	10	0	0	10	0.00454959	.	.	.	2823316	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.087	.	0.0053	0.00399361	0.0100	0.0011	0.0063	0	0.0026	0.0156	0.0105	0.0046	0.005498	850	154602	rs76593434	0.0081	0.0081	0.0082	0.0080	0.0095	0.0080	0.0079	0.0094	0.0093	0.0014	0.0040	0.0038	2.555e-05	0.0017	0.0063	0.0095	0.0077	0.0036	0.0055	0.0055	0.0058	0.0052	0.0092	0.0052	0.0051	0.0086	0.0083	0.0017	0.0011	0.0052	0.0029	0	0.0013	0.0034	0.0092	0.0057	0.0050	0.005	0.63226	D	0.141	0.34596	T	0.987	0.61912	D	0.82	0.59072	P	0.000449	0.44317	D	0.000000	0.728976	0.29848	N	1.485	0.37223	L	1.39	0.33842	T	-3.07	0.63207	D	0.709	0.71232	-1.0054	0.28337	T	0.079	0.31466	T	10	0.008336216	0.00189	T	.	.	.	0.087	0.25287	.	.	0.171388866994	0.16791	0.15922367500821374	0.15843	.	.	0.466417253017	0.34190	T	0.172182	0.52057	T	-0.412521	0.01913	T	-0.355939	0.38523	T	0.0142943352742888	0.00284	T	0.858114	0.54842	D	0.08181295	0.18818	0.17428319	0.39813	0.08181295	0.18818	0.17428319	0.39812	-5.374	0.40669	T	.	.	0.195	0.45738	B	.;.;.	.;.;.	4.236154	0.64195	24.7	0.99889557920884342	0.96359	0.66261	0.33017	D	AEFBCI	0.111789	0.22121	N	0.449734198374514	0.64189	4.667821	0.465882866575222	0.65742	4.862538	0.999965224017503	0.48965	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.18	4.09	0.47038	2.427000	0.44397	8.358000	0.77024	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1118:0.0:0.8882:0.0	9.516	0.38271	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	0	0	1	0	0.005040	0.000000	0.005435	0.002924	0.050000	0.000000	0.009146	0.003788	0.02632	1195.33	36	chr7	149725353	.	G	A	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=697;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-0.347;SOR=0.609	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1209,0,685	18	0	1	0
chr7	150372506	150372506	C	G	exonic	REPIN1	.	nonsynonymous SNV	REPIN1:NM_001099696:exon2:c.C1265G:p.S422W,REPIN1:NM_001362747:exon2:c.C1265G:p.S422W,REPIN1:NM_001099695:exon3:c.C1436G:p.S479W,REPIN1:NM_001362745:exon3:c.C1436G:p.S479W,REPIN1:NM_001362746:exon4:c.C1265G:p.S422W,REPIN1:NM_013400:exon4:c.C1265G:p.S422W	.	.	.	.	.	.	.	.	.	.	.	2293093	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0299366443296	8.5e-05	.	0.0001	0	0	0	0	8.423e-05	0	0.0004	4.53e-05	7	154602	rs371101994	9.103e-05	9.03e-05	8.083e-05	0.0001	0.0003	7.775e-05	7.302e-05	0.0002	0.0002	3.128e-05	0	0.0009	0	0	0	7.006e-05	0.0001	0.0003	9.318e-05	9.25e-05	0.0001	8.176e-05	0.0004	5.596e-05	4.418e-05	7.413e-05	4.274e-05	0	0	0	0.0012	0	0	0	0.0001	0	0.0004	0.027	0.46513	D	0.055	0.46862	T	0.992	0.64738	D	0.877	0.62241	P	.	.	.	.	0.999999	0.08975	N	1.365	0.34158	L	2.19	0.18724	T	-2.45	0.53577	N	0.358	0.47395	-1.0398	0.17374	T	0.074	0.29802	T	9	0.112820655	0.21175	T	0.029937	0.52351	D	0.102	0.29158	.	.	0.503923442013	0.50028	0.643611535863368	0.64296	1.86911652642	0.92500	0.896358668804	0.96026	D	0.040442	0.25529	T	-0.346662	0.04940	T	-0.466432	0.25900	T	0.166543594451554	0.18341	T	0.932607	0.77472	D	0.07785789	0.17695	0.088292204	0.20577	0.07785789	0.17695	0.088292204	0.20577	-4.152	0.29326	T	.	.	0.622	0.70430	P	.;.;.;.	.;.;.;.	3.345978	0.46131	22.2	0.98580922320572384	0.43245	0.19119	0.20535	N	AEFBCI	0.346583	0.44135	N	-0.028799755733884	0.40554	2.410368	-0.164500707942325	0.32854	1.873338	0.999995179980933	0.74766	0.741895	0.98168	0	0.697927	0.68747	0	0.778255	0.98755	0	0.714379	0.83352	0	.	.	4.39	2.31	0.27816	-0.082000	0.11268	2.581000	0.33416	0.589000	0.31548	0.000000	0.06391	0.532000	0.25368	0.973000	0.55318	0.213:0.4616:0.2063:0.1191	1.906	0.03079	934	0.15400	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	1434.33	39	chr7	150372506	.	C	G	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=800;ExcessHet=0;FS=3.354;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.306;SOR=1.005	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1448,0,1775	18	0	1	0
chr7	150474077	150474077	G	A	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon4:c.G748A:p.V250I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	.	0.0005	0.0071885	0.0025	0.0007	0	0.0281	0	0.0003	0.0011	0.0019	0.0022833	353	154602	rs79397821	0.0013	0.0013	0.0013	0.0013	0.0340	0.0012	0.0012	0.0325	0.0319	0.0005	0.0001	0.0045	0.0340	3.744e-05	0.0017	7.644e-05	0.0017	0.0016	0.0016	0.0016	0.0013	0.0018	0.0297	0.0014	0.0013	0.0259	0.0245	0.0008	0	0.0001	0.0052	0.0297	0	0	0.0002	0.0014	0.0033	0.96	0.02097	T	0.41	0.14544	T	0.999	0.77913	D	0.997	0.86255	D	0.099209	0.19944	N	0.361375	0.955885	0.26318	N	-0.295	0.03650	N	-0.02	0.62918	T	0.11	0.05706	N	0.066	0.03841	-0.9933	0.31749	T	0.065	0.26772	T	10	0.0041127503	0.00081	T	.	.	.	0.131	0.35738	.	.	0.698418770453	0.69581	0.13604579838439876	0.13528	0.249172828966	0.27491	0.386429339647	0.23164	T	0.002224	0.01623	T	-0.548055	0.00300	T	-0.538389	0.18455	T	0.0257675198812196	0.01374	T	0.588241	0.21547	T	0.021855906	0.00812	0.022958323	0.00313	0.021855906	0.00811	0.022958323	0.00313	-1.172	0.01212	T	.	.	0.085	0.10400	B	.	.	0.819010	0.11898	8.466	0.76983318587576088	0.11688	0.08497	0.14418	N	AEFDBHCI	0.038830	0.05552	N	-0.443253856458047	0.23970	1.290964	-0.588284560006883	0.19797	1.063841	0.986211023230439	0.31024	0.706548	0.73137	0	0.653731	0.59785	0	0.68496	0.61776	0	0.714379	0.83352	0	.	.	4.47	1.32	0.20897	-0.154000	0.10116	-1.105000	0.06316	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.2434:0.2132:0.5434:0.0	3.563	0.07443	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (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	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.02632	1597.33	33	chr7	150474077	.	G	A	1597.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.26;DP=758;ExcessHet=0;FS=5.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.591;SOR=0.576	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1611,0,1484	18	0	1	0
chr7	150958373	150958373	G	C	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_000238:exon4:c.C602G:p.T201R,KCNH2:NM_172056:exon4:c.C602G:p.T201R	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.966492637011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.409	0.26798	T	0.18	0.29046	B	0.058	0.26451	B	0.602050	0.10949	N	0.756542	0.879756	0.35727	D	0	0.06538	N	-4.97	0.98468	D	-0.58	0.17417	N	0.462	0.51583	0.914	0.95880	D	0.865	0.95499	D	10	0.5326347	0.63270	D	0.966493	0.99790	D	0.468	0.76289	0.234	0.16305	0.711447867247	0.70892	0.6579376394127888	0.65730	1.17638985666	0.79878	0.889019966125	0.95138	D	0.350997	0.71863	T	0.144137	0.68717	D	-0.0307332	0.68319	D	0.300200356272017	0.25012	T	0.687731	0.29668	T	0.07958387	0.18189	0.09115865	0.21416	0.07958387	0.18188	0.09115865	0.21416	-2.703	0.07329	T	.	.	0.128	0.27222	B	.;.	.;.	3.241674	0.44252	21.9	0.94029327007284424	0.24143	0.89849	0.50584	D	AEFDBCI	0.677087	0.64190	D	-0.0895411631789838	0.37850	2.208116	0.00755386815250046	0.40065	2.385174	0.999999999972868	0.74766	0.635344	0.42169	0	0.578056	0.33634	0	0.654045	0.52621	0	0.63947	0.58350	0	.	.	3.64	3.64	0.40864	4.464000	0.59870	9.259000	0.79546	0.582000	0.30178	0.978000	0.35038	1.000000	0.68203	0.855000	0.40485	0.0:0.0:1.0:0.0	11.016	0.46907	862	0.33134	.;PAS-associated, 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	1285.33	34	chr7	150958373	.	G	C	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.809;DP=795;ExcessHet=0;FS=2.179;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-1.769;SOR=0.887	GT:AD:DP:GQ:PL	0/1:74,59:133:99:1299,0,1814	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:214,94:308:99:1572,0,7272	1	0	18	0
chr7	158788024	158788024	T	C	exonic	ESYT2	.	nonsynonymous SNV	ESYT2:NM_001367773:exon6:c.A727G:p.I243V,ESYT2:NM_020728:exon6:c.A727G:p.I243V	.	432	1089	1	0	0	1	0.000458926	.	.	.	4125206	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0152660170757	.	.	9.07e-05	0.0002	0	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs554917145	0.0001	0.0001	8.714e-05	0.0001	0.0007	8.715e-05	8.202e-05	0.0004	0.0004	0.0007	2.237e-05	3.827e-05	7.56e-05	0	0.0003	8.545e-05	0.0001	0.0002	0.0002	0.0002	8.992e-05	0.0002	0.0004	0.0001	9.693e-05	0.0003	0.0002	0.0004	0	6.539e-05	0	0	0	0.0034	5.879e-05	0.0005	0.0002	0.98	0.02146	T	0.736	0.05054	T	0.001	0.07471	B	0.003	0.08700	B	0.037591	0.24384	N	0.478526	1	0.08975	N	.	.	.	-0.98	0.75789	T	-0.09	0.08809	N	0.168	0.17828	-0.9167	0.45997	T	0.078	0.31193	T	10	0.03497517	0.01726	T	0.015266	0.35904	T	0.092	0.26621	.	.	0.234412748748	0.23057	.	.	0.156096083841	0.17621	0.307217717171	0.11486	T	0.003053	0.02453	T	-0.362224	0.04006	T	-0.521418	0.20151	T	0.00287833532439507	0.00030	T	0.564843	0.19943	T	.	.	.	.	.	.	.	.	-4.628	0.32521	T	.	.	0.072	0.04396	B	.;.;.	.;.;.	-1.276884	0.00458	0.010	0.26881847827700606	0.01308	0.07052	0.13078	N	AEFBI	0.057985	0.10845	N	-1.96785960371026	0.00248	0.01062111	-1.86406553069091	0.00575	0.02553242	0.151971508303022	0.17455	0.744818	0.98587	0	0.743671	0.97443	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.41	-3.4	0.04549	-0.431000	0.07034	-6.145000	0.01483	-2.566000	0.00243	0.000000	0.06391	0.000000	0.08366	0.345000	0.25546	0.0:0.2566:0.336:0.4074	6.814	0.23005	958	0.09170	.;Synaptotagmin, SMP domain|Synaptotagmin-like mitochondrial-lipid-binding domain;Synaptotagmin, SMP domain|Synaptotagmin-like mitochondrial-lipid-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	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	949.33	33	chr7	158788024	.	T	C	949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-2.2;SOR=0.771	GT:AD:DP:GQ:PL	0/1:60,41:101:99:963,0,1367	18	0	1	0
chr7	159030677	159030677	A	G	exonic	VIPR2	.	nonsynonymous SNV	VIPR2:NM_001308259:exon10:c.T1208C:p.L403P,VIPR2:NM_001304522:exon11:c.T1016C:p.L339P,VIPR2:NM_003382:exon13:c.T1256C:p.L419P	.	416	1105	1	0	0	1	0.000452284	.	.	.	2369855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0077703046631	.	0.000798722	0.0004	0.0027	0	0	0	0.0001	0	0.0001	0.0001682	26	154602	rs548150495	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	0.0001	0.0018	0.0016	0.0022	7.877e-05	3.944e-05	0	0	0.0011	7.89e-05	0.0002	0.0002	0.0007	0.0007	0.0008	0.0006	0.0025	0.0006	0.0006	0.0021	0.0019	0.0025	0	0.0001	0	0	0	0	4.41e-05	0.0005	0	0.052	0.44029	T	0.124	0.44106	T	0.007	0.14184	B	0.004	0.10090	B	0.059323	0.22332	N	0.234064	0.999994	0.58761	D	2.22	0.62911	M	0.91	0.47815	T	-0.37	0.15986	N	0.222	0.37093	-1.0440	0.16118	T	0.082	0.32178	T	10	0.006308168	0.00142	T	0.00777	0.20616	T	0.050	0.13987	.	.	0.300110245524	0.29617	0.38484897843574434	0.38399	0.304521195288	0.32758	0.574248790741	0.49277	T	0.076697	0.35481	T	-0.477211	0.00768	T	-0.461622	0.26422	T	0.0331677725106888	0.02498	T	0.737426	0.35417	T	0.21565226	0.44003	0.25574496	0.51262	0.21565226	0.44003	0.25574496	0.51261	-8.518	0.64548	D	.	.	0.061	0.01367	B	.;.;.	.;.;.	2.657482	0.34614	19.68	0.99020475175046363	0.50569	0.79207	0.39206	D	AEFDGBHCI	0.272367	0.38801	N	-0.228186125196108	0.31980	1.798833	-0.0470800674152855	0.37616	2.204945	1.0	0.98316	0.685219	0.55550	0	0.573888	0.26702	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	5.23	5.23	0.72570	2.892000	0.48323	9.089000	0.78739	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.443000	0.27738	0.9068:0.0:0.0932:0.0	7.786	0.28257	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	0.006743	0.005747	0.005495	0.005988	0.000000	0.018182	0.009554	0.015504	0.02632	723.33	38	chr7	159030677	.	A	G	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.14;DP=708;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.265;SOR=0.756	GT:AD:DP:GQ:PL	0/1:39,35:74:99:737,0,953	18	0	1	0
chr8	737814	737814	G	T	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon1:c.G7T:p.A3S	.	943	554	20	5	0	30	0.026362	.	.	.	3210342	DLGAP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.0069156	180	26028	rs112628444	0.0106	0.0047	0.0103	0.0110	0.0303	0.0103	0.0101	0.0252	0.0233	0.0032	0.0074	0.0054	4.635e-05	0.0069	0.0178	0.0130	0.0104	0.0303	0.0089	0.0089	0.0091	0.0087	0.0321	0.0085	0.0083	0.0279	0.0264	0.0021	0	0.0103	0.0064	0.0010	0.0050	0.0171	0.0124	0.0105	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004456252	0.00091	T	.	.	.	.	.	.	.	.	.	0.020872219865692203	0.02040	.	.	.	.	.	0.006796	0.06227	T	.	.	.	.	.	.	.	.	.	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.59194	A	.	.	3.322809	0.45711	22.2	0.97031512956802823	0.32072	0.16736	0.19525	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999017994621512	0.38212	0.095506	0.02484	0	0.059962	0.00310	0	0.068936	0.01964	0	0.109499	0.03221	0	0.168939	0.28779	3.55	1.69	0.23290	1.269000	0.32677	3.008000	0.35949	0.463000	0.21641	0.052000	0.21487	1.000000	0.68203	0.854000	0.40426	0.2523:0.0:0.7477:0.0	5.842	0.17896	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	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	739.33	33	chr8	737814	.	G	T	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-1.087;SOR=0.756	GT:AD:DP:GQ:PL	0/1:24,31:55:99:753,0,455	18	0	1	0
chr8	2085368	2085368	C	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon14:c.C1622T:p.P541L	.	.	.	.	.	.	.	.	.	.	.	3203664	MYOM2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.311	0.0450414772411	0.0010	0.00159744	0.0015	0.0004	0.0005	0.0041	0.0002	0.0017	0	0.0012	0.0015265	236	154602	rs144063996	0.0012	0.0012	0.0012	0.0012	0.0016	0.0011	0.0011	0.0012	0.0011	0.0003	0.0006	0.0049	0.0013	0.0001	0.0016	0.0012	0.0017	0.0007	0.0009	0.0009	0.0010	0.0008	0.0019	0.0008	0.0007	0.0011	0.0008	0.0004	0	0.0013	0.0046	0.0019	0	0	0.0009	0.0005	0.0017	0.277	0.15665	T	0.094	0.39645	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.56	0.54540	T	-6.37	0.91058	D	0.806	0.80180	-0.3872	0.72429	T	0.334	0.70150	T	10	0.05902019	0.07030	T	0.045041	0.61789	D	0.311	0.63269	.	.	0.758814659204	0.75661	0.6597343187371477	0.65910	0.0436550850704	0.04704	0.510371923447	0.40275	T	.	.	.	-0.24317	0.14947	T	-0.122081	0.61631	T	0.100203684327369	0.12380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43393	B	.	.	3.374784	0.46651	22.3	0.99597439092514684	0.73983	0.94440	0.61173	D	AEFDBI	0.622334	0.60669	D	0.575779932672975	0.71665	5.685515	0.472138508991162	0.66149	4.914817	0.999999991619384	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	5.75	0.90390	4.533000	0.60328	5.785000	0.49830	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.023000	0.12082	0.0:1.0:0.0:0.0	19.961	0.97251	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1582.33	72	chr8	2085368	.	C	T	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.259;DP=866;ExcessHet=0;FS=2.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.13;SOR=0.501	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1596,0,1468	18	0	1	0
chr8	7016736	7016736	C	G	exonic	DEFA1;DEFA1B;DEFA3	.	nonsynonymous SNV	DEFA1B:NM_001042500:exon2:c.G115C:p.D39H,DEFA1:NM_004084:exon2:c.G115C:p.D39H,DEFA3:NM_005217:exon2:c.G115C:p.D39H,DEFA1B:NM_001302265:exon3:c.G136C:p.D46H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	.	.	0.0195	0.0069	0	0.1662	0.0026	0.0005	0	0.0037	0.0016235	251	154602	rs371838080	0.0026	0.0038	0.0026	0.0026	0.0852	0.0025	0.0025	0.0827	0.0816	0.0002	0.0002	0	0.0852	0.0004	0.0003	0.0001	0.0029	0.0011	0.0023	0.0032	0.0020	0.0026	0.0586	0.0021	0.0020	0.0530	0.0508	0.0005	0	0.0003	0	0.0586	0.0003	0	0.0002	0.0020	0.0018	0.003	0.68238	D	0.02	0.58613	D	0.999	0.77913	D	0.988	0.77976	D	0.836118	0.06971	N	1.110310	1	0.08975	N	.	.	.	1.31	0.35405	T	-4.61	0.79060	D	0.115	0.10340	-0.9161	0.46076	T	0.167	0.50518	T	9	0.0034990013	0.00062	T	.	.	.	0.045	0.12272	.	.	0.258283824007	0.25425	0.1544821288190487	0.15369	3.01023712014	0.99228	0.403193861246	0.25514	T	0.074153	0.34869	T	-0.578085	0.00198	T	-0.633234	0.10170	T	0.0689576246939118	0.08505	T	0.518948	0.16858	T	0.257125	0.48755	0.16905582	0.38911	0.257125	0.48755	0.16905582	0.38911	-5.743	0.44074	T	.	.	0.217	0.44720	B	.	.	1.462151	0.18848	13.96	0.95926715732096446	0.28203	0.00243	0.01347	N	AEFI	0.043209	0.06801	N	-0.726180526596654	0.15288	0.7691677	-1.04529283699952	0.08805	0.4347516	1.02728524206626E-4	0.05123	0.497415	0.19182	0	0.59043	0.45803	0	0.54472	0.12158	0	0.613276	0.41899	0	.	.	2.04	-2.53	0.05959	-0.457000	0.06821	-2.438000	0.03754	-0.303000	0.06174	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3778:0.4572:0.165	4.328	0.10491	994	0.00715	Defensin propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	93.46	21	chr8	7016736	.	C	G	93.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.593;DP=238;ExcessHet=0;FS=3.09;InbreedingCoeff=-0.0355;MLEAC=1;MLEAF=0.026;MQ=32.55;MQRankSum=0.191;QD=7.79;ReadPosRankSum=-1.701;SOR=2.494	GT:AD:DP:GQ:PL	0/1:8,4:12:99:107,0,247	18	0	1	0
chr8	7338417	7338417	G	A	exonic	USP17L4	.	nonsynonymous SNV	USP17L4:NM_001256874:exon1:c.G1303A:p.D435N	.	567	945	8	2	0	12	0.00630915	.	.	.	2820846	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	0	.	0	.	.	3.84e-05	1	26028	rs765526325	0.0008	0.0006	0.0005	0.0010	0.0046	0.0007	0.0007	0.0041	0.0039	0	0.0003	0.0007	0	0	0.0040	0.0004	0.0007	0.0046	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0014	0.0010	0	0	9.93e-05	0.0007	0	0	0	0.0002	0.0016	0.0029	.	.	.	0.398	0.15109	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.095	0.58118	M	.	.	.	.	.	.	0.11	0.09631	.	.	.	.	.	.	.	0.014757335	0.00310	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.009460976096982014	0.00909	.	.	0.677136778831	0.63858	T	0.020588	0.16185	T	-0.483277	0.00708	T	-0.468126	0.25718	T	.	.	.	0.771723	0.40231	T	0.08933321	0.20869	0.124255605	0.29951	0.08933321	0.20869	0.124255605	0.29951	-3.869	0.21839	T	.	.	0.105	0.19276	B	.	.	2.739465	0.35877	20.1	0.57824510947332841	0.05855	0.06747	0.12769	N	AEFI	.	.	.	.	.	.	.	.	.	1.44139590306061E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0431032	0.02392	0.488	0.488	0.16056	1.488000	0.35160	0.140000	0.15159	0.452000	0.21348	0.969000	0.34210	0.000000	0.08366	0.020000	0.11549	.	.	.	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	299.33	34	chr8	7338417	.	G	A	299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.848;DP=496;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=30.71;MQRankSum=0.045;QD=14.25;ReadPosRankSum=0.6;SOR=0.784	GT:AD:DP:GQ:PL	0/1:10,11:21:99:313,0,282	18	0	1	0
chr8	9556302	9556302	-	GGCAGT	exonic	TNKS	.	nonframeshift insertion	TNKS:NM_003747:exon1:c.363_364insGGCAGT:p.S125_N126insGS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.118e-05	0	0	0	0	2.997e-05	0	0.0002	3.84e-05	1	26028	rs775065882	1.231e-05	1.231e-05	5.445e-06	1.925e-05	0.0002	7.7e-06	6.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0.0002	6.563e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4520.29	33	chr8	9556302	.	C	CGGCAGT	4520.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.451;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.16;ReadPosRankSum=1.48;SOR=0.734	GT:AD:DP:GQ:PL	0/1:89,115:204:99:4534,0,3334	18	0	1	0
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1562	19088.4	307	chr8	10609948	.	C	T	19088.4	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,74:218:99:0|1:10609947_C_G:166,0,3532:10609947	11	0	5	3
chr8	10610127	10610127	-	CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKETEEGLQEEGVQLEGTKVIEGLQEEGVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0004	0.0003	0	0.0005	2.239e-05	0.0002	0.0002	0.0003	0.0004	0.0005	0.0006	0.0004	0.0005	0.0010	0.0004	0.0003	0.0004	0.0003	0.0004	0	0.0008	0	0.0010	0.0001	0	0.0004	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	80542.9	290	chr8	10610127	.	T	TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTC	80542.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.188;DP=6208;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=59.68;MQRankSum=-0.647;QD=26.63;ReadPosRankSum=-0.83;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,38:128:99:.:.:14734,6706,6027:.	18	0	1	0
chr8	11853447	11853447	T	G	exonic	CTSB	.	nonsynonymous SNV	CTSB:NM_001384714:exon2:c.A8C:p.Q3P,CTSB:NM_001908:exon2:c.A8C:p.Q3P,CTSB:NM_001384727:exon3:c.A8C:p.Q3P,CTSB:NM_001384728:exon3:c.A8C:p.Q3P,CTSB:NM_147781:exon3:c.A8C:p.Q3P,CTSB:NM_147782:exon3:c.A8C:p.Q3P,CTSB:NM_147783:exon3:c.A8C:p.Q3P,CTSB:NM_001384723:exon4:c.A8C:p.Q3P,CTSB:NM_001384724:exon4:c.A8C:p.Q3P,CTSB:NM_001384725:exon4:c.A8C:p.Q3P,CTSB:NM_001384726:exon4:c.A8C:p.Q3P,CTSB:NM_147780:exon4:c.A8C:p.Q3P	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0131656072586	.	.	0.0002	0	8.673e-05	0	0	4.539e-05	0.0034	0.0008	0.0001294	20	154602	rs762550595	0.0001	0.0001	8.581e-05	0.0001	0.0014	9.339e-05	8.822e-05	0.0007	0.0005	0	2.238e-05	0	0	1.886e-05	0.0014	7.466e-05	8.283e-05	0.0007	7.972e-05	7.881e-05	6.483e-05	9.538e-05	0.0004	4.543e-05	3.549e-05	7.542e-05	4.257e-05	2.446e-05	0	0	0	0	0	0.0034	0.0001	0	0.0004	0.216	0.25255	T	0.218	0.31730	T	0.002	0.09854	B	0.002	0.06944	B	0.532843	0.11620	N	0.819730	1	0.08975	N	0.295	0.10161	N	-0.45	0.69896	T	-0.92	0.87300	N	0.171	0.18512	-1.0382	0.17863	T	0.119	0.41648	T	10	0.034485936	0.01658	T	0.013166	0.32362	T	0.202	0.48754	.	.	0.163833314356	0.15978	0.5635157428951171	0.56278	.	.	0.237605825067	0.02579	T	0.176374	0.52630	T	-0.328752	0.06206	T	-0.313829	0.43246	T	0.0259593370905877	0.01401	T	0.435556	0.14930	T	0.23750979	0.46616	0.15057208	0.35505	0.23750979	0.46616	0.15057208	0.35504	-3.319	0.13984	T	.	.	0.069	0.13032	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.437458	0.00334	0.006	0.80444679583065515	0.13206	0.09821	0.15489	N	AEFDGBHCI	0.485274	0.52493	N	-1.50339007117835	0.01828	0.08012023	-1.52937091512227	0.02121	0.09707712	1.0	0.98316	0.722319	0.85440	0	0.643519	0.57511	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	4.98	-6.09	0.01963	-1.841000	0.01776	.	.	-2.047000	0.00420	0.000000	0.06391	0.000000	0.08366	0.140000	0.19946	0.0:0.563:0.1008:0.3362	11.873	0.51809	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	556.33	50	chr8	11853447	.	T	G	556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.074;DP=748;ExcessHet=0;FS=2.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-1.739;SOR=0.343	GT:AD:DP:GQ:PL	0/1:26,24:50:99:570,0,728	18	0	1	0
chr8	12137772	12137772	C	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G989T:p.C330F	.	530	982	9	1	0	11	0.00556962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00122202859647	.	0.000399361	0.0012	0	0.0005	0	0.0005	0.0002	0.0035	0.0063	0.0002305	6	26028	rs201342238	0.0004	0.0004	0.0002	0.0006	0.0054	0.0004	0.0004	0.0049	0.0048	0	0.0002	0	0	7.84e-05	0.0020	6.66e-05	0.0006	0.0054	0.0001	0.0001	8.332e-05	0.0002	0.0036	8.233e-05	6.822e-05	0.0022	0.0017	0	0	7.274e-05	0	0	0.0002	0	1.547e-05	0	0.0036	0.0	0.91255	D	0.001	0.83351	D	0.142	0.27621	B	0.216	0.37572	B	0.001113	0.40219	N	0.160618	0.91258	0.36451	D	2.255	0.64187	M	3.47	0.05188	T	-9.72	0.98616	D	0.454	0.49146	-1.0625	0.11142	T	0.022	0.09284	T	10	0.013972223	0.00295	T	0.001222	0.01608	T	0.178	0.44724	.	.	0.370424759081	0.36655	0.02830831682622384	0.02780	1.4404443071	0.85963	0.526339828968	0.42519	T	0.006646	0.06077	T	-0.400585	0.02295	T	-0.51563	0.20739	T	0.218766700757528	0.21402	T	0.975802	0.91539	D	0.82398933	0.85491	0.5145042	0.71947	0.82398933	0.85492	0.5145042	0.71948	-12.374	0.86625	D	.	.	0.224	0.45520	B	.	.	2.181801	0.27809	17.59	0.98032682235053026	0.37728	0.51360	0.28877	D	AEFBI	0.366179	0.45409	N	-0.546848914256089	0.20582	1.086094	-0.691592343951948	0.17169	0.9117934	1.08596093194533E-5	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.935	-0.342	0.12008	3.976000	0.56574	-0.079000	0.12201	0.272000	0.18543	1.000000	0.71638	0.000000	0.08366	0.020000	0.11549	0.0:0.6862:0.3138:0.0	6.344	0.20546	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000624	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004673	0.03125	3098.65	155	chr8	12137772	.	C	A	3098.65	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.872;DP=4189;ExcessHet=0;FS=0;InbreedingCoeff=-0.036;MLEAC=1;MLEAF=0.031;MQ=49.38;MQRankSum=1.12;QD=5.57;ReadPosRankSum=0.168;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:409,147:556:99:1|0:12137765_G_A:3111,0,16386:12137765	15	0	1	3
chr8	18062345	18062345	G	T	exonic	ASAH1	.	nonsynonymous SNV	ASAH1:NM_001127505:exon8:c.C564A:p.N188K,ASAH1:NM_001363743:exon8:c.C387A:p.N129K,ASAH1:NM_004315:exon8:c.C630A:p.N210K,ASAH1:NM_177924:exon8:c.C582A:p.N194K	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1496752	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.313	0.0324151745682	.	.	4.942e-05	0	0	0	0	0	0.0022	0.0002	3.88e-05	6	154602	rs199909023	4.378e-05	4.378e-05	3.131e-05	5.638e-05	0.0007	3.509e-05	3.193e-05	0.0005	0.0005	0	0	0	0	0	0.0002	8.993e-07	6.623e-05	0.0007	5.258e-05	5.254e-05	1.285e-05	9.418e-05	0.0015	2.558e-05	1.83e-05	0.0007	0.0005	2.413e-05	0	0	0	0	0	0	0	0	0.0015	0.082	0.36113	T	0.185	0.33330	T	0.394	0.34702	B	0.329	0.42046	B	0.000015	0.62929	D	0.203609	0.967031	0.38568	D	2.36	0.67893	M	-1.61	0.82254	D	-4.06	0.74582	D	0.349	0.43320	-0.3459	0.73672	T	0.463	0.79223	T	10	0.20591092	0.36834	T	0.032415	0.54249	D	0.313	0.63482	0.625	0.76028	0.859801401501	0.85844	0.8216765474297976	0.82124	0.00355455249364	0.00305	0.578383207321	0.49858	T	0.794619	0.94699	D	-0.282784	0.10376	T	-0.276383	0.47174	T	0.175756770481746	0.18964	T	0.917308	0.74605	D	0.36759308	0.58407	0.34404737	0.60107	0.36200348	0.57989	0.25978968	0.51732	-5.087	0.37769	T	0.2107317438891996	0.28241	0.179	0.49216	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.319285	0.29694	18.21	0.98691640840471917	0.44766	0.85653	0.44809	D	AEFBI	0.559224	0.56812	D	-0.265038400176836	0.30508	1.701729	-0.196591060545136	0.31661	1.79393	0.793006110577199	0.24047	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.43	1.7	0.23359	1.483000	0.35105	2.141000	0.30844	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.3618:0.0:0.6382:0.0	8.630	0.33074	923	0.18507	Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.;Choloylglycine hydrolase/NAAA C-terminal;Choloylglycine hydrolase/NAAA C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	4662.81	33	chr8	18062345	.	G	T	4662.81	.	AC=2;AF=0.053;AN=38;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.09;SOR=0.927	GT:AD:DP:GQ:PL	1/1:0,150:150:99:4690,450,0	18	1	0	0
chr8	27598557	27598557	T	C	exonic	CLU	.	nonsynonymous SNV	CLU:NM_001831:exon8:c.A1243G:p.I415V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0303049206104	.	.	9.897e-05	0	0.0003	0	0	0	0.0033	0.0004	7.76e-05	12	154602	rs531300634	3.831e-05	3.831e-05	1.225e-05	6.463e-05	0.0006	3.025e-05	2.719e-05	0.0005	0.0004	0	0	0	0	0	0	0	3.312e-05	0.0006	2.628e-05	2.625e-05	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.032	0.44694	D	0.051	0.47828	T	0.509	0.37289	P	0.28	0.40294	B	0.000841	0.41547	D	0.275088	0.590847	0.32455	D	2.735	0.79925	M	1.8	0.25344	T	-0.74	0.20791	N	0.188	0.20793	-0.7761	0.56520	T	0.102	0.37819	T	10	0.12227729	0.23193	T	0.030305	0.52646	D	0.092	0.26621	0.724	0.85850	0.148003135375	0.14442	0.2882015863515608	0.28733	0.727830422094	0.62582	0.303063988686	0.10859	T	0.108565	0.42171	T	-0.414127	0.01866	T	-0.465049	0.26050	T	0.25343719124794	0.23026	T	0.80392	0.45144	T	0.03688757	0.04625	0.047672227	0.06919	0.03688757	0.04625	0.047672227	0.06919	-2.39	0.05072	T	.	.	0.119	0.24464	B	.;.;.	.;.;.	2.178248	0.27765	17.57	0.99342401976268513	0.60251	0.86446	0.45728	D	AEFGBCI	0.609596	0.59874	D	0.0738578397450557	0.45244	2.784342	0.0542658926389864	0.42278	2.55445	0.999999999511649	0.74766	0.730579	0.87903	0	0.563428	0.19063	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.4	4.23	0.49319	2.147000	0.41849	1.932000	0.29777	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.15:0.0:0.0:0.85	10.091	0.41620	613	0.66686	Clusterin, C-terminal;Clusterin, C-terminal;Clusterin, 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	888.33	35	chr8	27598557	.	T	C	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.777;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-0.932;SOR=0.666	GT:AD:DP:GQ:PL	0/1:81,43:124:99:902,0,2008	18	0	1	0
chr8	27752572	27752572	C	G	exonic	CCDC25	.	nonsynonymous SNV	CCDC25:NM_001304529:exon5:c.G184C:p.D62H,CCDC25:NM_018246:exon5:c.G184C:p.D62H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.038608744221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.547e-05	0.0001	2.33e-05	2.766e-05	9.022e-05	1.879e-05	1.641e-05	2.391e-05	1.795e-05	9.022e-05	0	3.837e-05	0	0	0	2.899e-05	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.13	0.88074	M	.	.	.	-5.63	0.86836	D	0.853	0.84922	0.028	0.82819	D	0.473	0.79732	T	9	0.8197929	0.81191	D	0.038609	0.58323	D	0.614	0.84932	0.55	0.66576	0.460795861206	0.45704	0.7015162019112378	0.70092	1.51491552847	0.87300	0.722615897655	0.70428	T	0.129824	0.45833	T	0.270073	0.80448	D	0.150165	0.80195	D	0.997151553630829	0.90894	D	0.961604	0.88140	D	0.72886264	0.79660	0.68237287	0.81331	0.72886264	0.79661	0.68237287	0.81332	-10.727	0.78140	D	.	.	0.318	0.54390	B	.;.	.;.	5.579871	0.92292	32	0.9959362337452432	0.73748	0.98767	0.86589	D	AEFGBI	0.922896	0.89857	D	0.859233201530184	0.89628	10.05	0.816114730825622	0.90890	10.61762	0.999999999304192	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.462000	0.79890	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.507	0.84122	793	0.45818	Domain of unknown function DUF814;Domain of unknown function DUF814	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	67.72	34	chr8	27752572	.	C	G	67.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.237;DP=1411;ExcessHet=0;FS=208.951;InbreedingCoeff=-0.0417;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=0.654;SOR=9.912	GT:AD:DP:GQ:PL	0/1:93,26:127:81:81,0,1988	17	0	1	1
chr8	28463730	28463730	C	T	exonic	FBXO16	.	nonsynonymous SNV	FBXO16:NM_001258211:exon3:c.G188A:p.R63Q,FBXO16:NM_172366:exon4:c.G224A:p.R75Q	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0032	0.00798722	0.0053	0.0007	0.0036	0.0292	0.0011	0.0035	0.0055	0.0056	0.0051099	790	154602	rs3735726	0.0048	0.0048	0.0048	0.0048	0.0310	0.0047	0.0047	0.0296	0.0290	0.0007	0.0041	0.0036	0.0310	0.0009	0.0023	0.0042	0.0048	0.0048	0.0037	0.0037	0.0038	0.0036	0.0270	0.0035	0.0034	0.0233	0.0219	0.0010	0	0.0040	0.0035	0.0270	0.0004	0.0034	0.0041	0.0043	0.0039	0.491	0.12032	T	0.49	0.12740	T	0.029	0.19866	B	0.003	0.08700	B	0.611412	0.10863	N	0.750729	0.999665	0.20745	N	0.805	0.20218	L	2.56	0.39990	T	-0.4	0.13805	N	0.151	0.19728	-1.0448	0.15884	T	0.026	0.11220	T	10	0.0026821792	0.00041	T	.	.	.	0.032	0.07718	.	.	0.255777322467	0.25185	0.08502330320680847	0.08436	0.0471141811343	0.05133	0.286356389523	0.08394	T	6.16E-4	0.00258	T	-0.611572	0.00124	T	-0.62826	0.10546	T	0.00453315636866865	0.00048	T	0.813419	0.47426	T	0.033555724	0.03597	0.04583415	0.06253	0.033555724	0.03597	0.04583415	0.06253	-7.056	0.54442	T	.	.	0.063	0.02428	B	.;.;.;.	.;.;.;.	1.784550	0.22686	15.72	0.95745011269057601	0.27708	0.38332	0.25964	N	AEFBI	0.124008	0.23987	N	-0.751000629622611	0.14605	0.728991	-0.552886777216525	0.20729	1.118162	0.227983699836338	0.18432	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.63	2.88	0.32617	-0.123000	0.10586	-0.496000	0.08830	-0.259000	0.06933	0.253000	0.24879	0.000000	0.08366	0.948000	0.49324	0.0:0.685:0.0:0.315	9.094	0.35789	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	0.004036	0.020202	0.000000	0.002959	0.000000	0.000000	0.006135	0.000000	0.02632	3129.33	33	chr8	28463730	.	C	T	3129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.329;DP=880;ExcessHet=0;FS=3.845;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.6;SOR=0.949	GT:AD:DP:GQ:PL	0/1:96,121:217:99:3143,0,2310	18	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S,FZD3:NM_017412:exon5:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	972.6	108	chr8	28527857	.	A	C	972.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.292;DP=1867;ExcessHet=1.3;FS=283.872;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=2.46;SOR=11.075	GT:AD:DP:GQ:PL	0/1:147,55:202:99:154,0,2823	10	0	5	4
chr8	31639995	31639995	G	C	exonic	NRG1	.	nonsynonymous SNV	NRG1:NM_013962:exon1:c.G11C:p.R4P	.	388	1119	14	1	0	16	0.00709849	.	.	.	104274	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.301	0.997998152407	.	.	0	0	0	0	.	0	0	0	0.00011	17	154602	rs367543150	0.0004	0.0004	0.0004	0.0005	0.0043	0.0004	0.0004	0.0026	0.0021	0	0.0004	0.0034	0	6.752e-05	0.0043	0.0004	0.0007	0.0001	0.0006	0.0006	0.0007	0.0004	0.0009	0.0005	0.0004	0.0006	0.0005	7.273e-05	0	0.0009	0.0035	0	0	0.0102	0.0007	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.18	0.35854	B	.	.	.	.	1	0.81001	D	.	.	.	-1.2	0.78537	T	0.79	0.01893	N	0.532	0.56058	-0.6431	0.63013	T	0.236	0.60355	T	8	0.021544874	0.00518	T	0.997998	0.99997	D	0.301	0.62179	.	.	0.440148150062	0.43634	.	.	.	.	.	.	.	.	.	.	-0.325522	0.06456	T	-0.290807	0.45689	T	0.23651533785535	0.22258	T	0.473453	0.15758	T	.	.	.	.	.	.	.	.	-3.394	0.14976	T	.	.	0.198	0.51201	B	.;.	.;.	2.570187	0.33303	19.30	0.98015627080999068	0.37589	0.70733	0.34713	D	AEFDBCI	0.498809	0.53275	N	0.0635187341004716	0.44767	2.744761	0.0472924769976856	0.41941	2.528304	0.996339271546913	0.34675	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.91	1.98	0.25351	3.585000	0.53686	4.179000	0.42325	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.1749:0.0:0.8251:0.0	5.162	0.14392	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5871.79	39	chr8	31639995	.	G	C	5871.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.593;DP=1098;ExcessHet=0.3672;FS=1.144;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.728;SOR=0.795	GT:AD:DP:GQ:PL	0/1:92,96:188:99:2170,0,2030	16	0	3	0
chr8	37877186	37877186	A	G	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon2:c.T737C:p.V246A,RAB11FIP1:NM_025151:exon2:c.T737C:p.V246A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0234260225142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.46513	T	0.756	0.33109	T	0.935	0.58310	P	0.648	0.52381	P	0.033095	0.24942	N	0.336458	1	0.08975	N	2.935	0.84639	M	2.25	0.30937	T	-1.8	0.45042	N	0.364	0.53269	-1.0551	0.13013	T	0.082	0.32382	T	10	0.15033689	0.28436	T	0.023426	0.46390	T	0.077	0.22490	0.268	0.21576	0.470970234271	0.46722	0.3781056884480273	0.37725	0.43445077893	0.43583	0.487033247948	0.37028	T	0.019822	0.21421	T	-0.116623	0.33678	T	-0.405297	0.32769	T	0.766260802745819	0.44216	D	0.744226	0.36418	T	0.044105697	0.06994	0.051774416	0.08400	0.044105697	0.06993	0.051774416	0.08399	-2.676	0.38357	T	.	.	0.179	0.52368	B	.;.;.;.	.;.;.;.	2.684326	0.35026	19.79	0.77611629145936456	0.11948	0.44303	0.27289	N	AEFBI	0.162275	0.28843	N	-0.149812814982339	0.35241	2.021813	-0.21249283947377	0.31086	1.756053	0.999417555823027	0.39577	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.63	4.47	0.53770	2.409000	0.44236	4.631000	0.44116	0.735000	0.85950	0.091000	0.22601	0.983000	0.30585	0.051000	0.15275	0.7736:0.1502:0.0762:0.0	6.907	0.23495	794	0.45591	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1208.33	42	chr8	37877186	.	A	G	1208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.054;DP=792;ExcessHet=0;FS=4.142;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.534;SOR=1.1	GT:AD:DP:GQ:PL	0/1:95,57:152:99:1222,0,2385	18	0	1	0
chr8	47889113	47889113	T	A	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon33:c.A4181T:p.H1394L,PRKDC:NM_006904:exon33:c.A4181T:p.H1394L	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00455601432967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.46862	T	0.004	0.12183	B	0.009	0.14300	B	0.065911	0.21847	N	0.488214	0.996429	0.23019	N	2.35	0.67516	M	.	.	.	.	.	.	0.322	0.36779	-0.9836	0.34164	T	0.010	0.03673	T	10	0.20632291	0.36890	T	0.004556	0.11220	T	0.051	0.14325	0.379	0.39482	0.580710594535	0.57741	0.3402842721593778	0.33941	0.291602179089	0.31565	0.273332297802	0.06580	T	0.323262	0.69419	T	-0.0909626	0.37916	T	-0.368438	0.37071	T	0.15272630751133	0.17318	T	0.871013	0.58632	D	0.13452628	0.31253	0.09191312	0.21635	0.13452628	0.31253	0.09191312	0.21635	-2.125	0.03692	T	0.5362254447385483	0.60646	0.109	0.20972	B	.;.	.;.	1.293217	0.16940	12.86	0.88718610943006426	0.18200	0.84927	0.44023	D	AEFDBCI	0.254639	0.37391	N	-0.609122320915305	0.18669	0.9711187	-0.602668142590879	0.19424	1.042077	0.0180888612839171	0.13020	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	-0.347	0.11990	1.364000	0.33775	-0.214000	0.10826	0.665000	0.62972	0.992000	0.37556	0.412000	0.24764	0.494000	0.28882	0.0:0.1274:0.0:0.8726	10.385	0.43315	549	0.72275	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3590.81	33	chr8	47889113	.	T	A	3590.81	.	AC=2;AF=0.053;AN=38;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.92;SOR=0.761	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3618,360,0	18	1	0	0
chr8	139910284	139910284	C	G	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon19:c.G2800C:p.D934H,TRAPPC9:NM_001374683:exon19:c.G2716C:p.D906H,TRAPPC9:NM_001374684:exon19:c.G2683C:p.D895H,TRAPPC9:NM_001160372:exon20:c.G2827C:p.D943H,TRAPPC9:NM_031466:exon20:c.G2827C:p.D943H,TRAPPC9:NM_001374682:exon21:c.G2848C:p.D950H	Mental retardation, autosomal recessive 13, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	313276	Inborn_genetic_diseases|not_provided|Intellectual_Disability,_Recessive	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN239290	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.016237788969	7.7e-05	0.000599042	0.0002	0	0	0.0017	0	0.0002	0	0.0002	0.0002005	31	154602	rs144046998	9.44e-05	9.44e-05	0.0001	8.25e-05	0.0014	8.134e-05	7.65e-05	0.0011	0.0010	0	0	0.0007	0.0014	0	0.0002	2.158e-05	0.0002	0.0003	0.0001	0.0001	8.993e-05	0.0001	0.0019	6.507e-05	5.319e-05	0.0010	0.0008	0	0	0	0.0009	0.0019	0	0	1.47e-05	0	0.0004	0.001	0.78490	D	0.022	0.58089	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.051064	0.999999	0.58761	D	2.25	0.63811	M	.	.	.	-3.68	0.70314	D	0.881	0.88027	-0.5130	0.68176	T	0.350	0.71407	T	9	0.12806788	0.24360	T	0.016238	0.37399	T	0.427	0.73445	.	.	0.478144874143	0.47444	0.3884458762403192	0.38759	0.452047251807	0.44938	0.740373373032	0.73028	T	0.299927	0.67243	T	0.0427237	0.57401	T	0.253215	0.85770	D	0.146305330273442	0.16805	T	0.90041	0.65400	D	0.7603334	0.81473	0.71539515	0.83203	0.7603334	0.81474	0.71539515	0.83204	-7.553	0.58604	D	.	.	0.297	0.52784	B	.;.;.;.	.;.;.;.	5.077105	0.84710	28.4	0.99696640447176721	0.80316	0.97763	0.76955	D	AEFDGI	0.779949	0.71199	D	0.445780825537574	0.63963	4.640723	0.525780389728075	0.69730	5.402327	0.999999999917913	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	5.442000	0.66324	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.649	0.91381	963	0.08280	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	897.33	38	chr8	139910284	.	C	G	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.934;DP=742;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.832;SOR=0.571	GT:AD:DP:GQ:PL	0/1:53,42:95:99:911,0,1369	18	0	1	0
chr8	142664437	142664437	A	C	exonic	JRK	.	nonsynonymous SNV	JRK:NM_003724:exon2:c.T1622G:p.V541G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.544e-05	0	9.533e-05	0	0	0	0.0014	0.0004	5.17e-05	8	154602	rs782329244	5.141e-05	5.13e-05	3.136e-05	7.168e-05	0.0008	4.2e-05	3.831e-05	0.0007	0.0006	0	0	0	0	0	0	0	4.979e-05	0.0008	1.314e-05	1.312e-05	1.286e-05	1.343e-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	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.06990	.	.	.	.	.	.	.	0.041669846	0.02843	T	.	.	.	.	.	.	.	0.458374381611	0.45463	0.21582102921241278	0.21498	.	.	.	.	.	.	.	.	-0.273166	0.11406	T	-0.257896	0.49035	T	.	.	.	0.252275	0.03843	T	.	.	.	.	.	.	.	.	-4.201	0.26766	T	.	.	0.100	0.17232	B	.;.	.;.	2.184517	0.27845	17.60	0.85122407987776338	0.15698	0.09234	0.15031	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999989442810219	0.51787	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.221052	0.04502	0	0.0600328	0.14388	3.92	1.42	0.21524	1.148000	0.31226	2.679000	0.34003	0.756000	0.94297	0.003000	0.16062	0.052000	0.21854	0.951000	0.49849	0.5901:0.0:0.4099:0.0	4.964	0.13429	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	0.001517	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	884.33	44	chr8	142664437	.	A	C	884.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=707;ExcessHet=0;FS=1.915;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.174;SOR=0.963	GT:AD:DP:GQ:PL	0/1:40,34:74:99:898,0,927	18	0	1	0
chr8	143616135	143616135	G	A	exonic	GFUS	.	nonsynonymous SNV	GFUS:NM_001317783:exon3:c.C250T:p.R84W,GFUS:NM_003313:exon3:c.C232T:p.R78W	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	.	7.7e-05	0.00299521	0.0017	0.0005	8.654e-05	0.0012	0	0	0.0023	0.0125	0.0014748	228	154602	rs143026820	0.0009	0.0009	0.0005	0.0012	0.0124	0.0008	0.0008	0.0118	0.0115	0.0003	0	0	0.0025	1.879e-05	0.0010	7.217e-06	0.0009	0.0124	0.0005	0.0005	0.0004	0.0007	0.0122	0.0004	0.0004	0.0097	0.0088	0.0005	0	0	0	0.0010	0	0	0	0	0.0122	0.189	0.22053	T	0.038	0.51421	D	0.985	0.61118	D	0.791	0.57754	P	0.055700	0.22622	N	0.409624	0.997383	0.43845	D	1.385	0.34509	L	-3.38	0.94161	D	-3.6	0.74582	D	0.736	0.73645	0.862	0.95172	D	0.856	0.95217	D	10	0.017109007	0.00363	T	.	.	.	0.729	0.90501	.	.	0.964294476117	0.96391	0.8226608458890969	0.82223	0.476634509466	0.46789	0.491338372231	0.37623	T	0.57785	0.86129	D	-0.088785	0.38277	T	0.110078	0.77577	D	0.0783009760993507	0.09768	T	0.994547	0.98194	D	0.540731	0.69437	0.33400065	0.59231	0.540731	0.69438	0.33400065	0.59230	-9.124	0.68491	D	.	.	0.427	0.61020	A	.;.;.;.;.;.	.;.;.;.;.;.	5.916545	0.94052	33	0.99918285762901404	0.98586	0.89747	0.50413	D	AEFGBHCI	0.817393	0.73889	D	0.628715710085019	0.74999	6.228899	0.58685663184678	0.73996	6.062731	0.999999995194758	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.75	4.75	0.59954	4.319000	0.58987	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.8071:0.1929	10.551	0.44276	958	0.09170	NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	777.33	35	chr8	143616135	.	G	A	777.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.797;DP=692;ExcessHet=0;FS=3.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.156;SOR=1.343	GT:AD:DP:GQ:PL	0/1:28,30:58:99:791,0,632	18	0	1	0
chr8	143867220	143867220	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G6034A:p.A2012T	.	.	.	.	.	.	.	.	.	.	.	2203581	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.514	0.0461274531745	.	.	.	.	.	.	.	.	.	.	.	.	.	rs545639287	6.163e-06	6.156e-06	6.812e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	7.42e-06	2.77e-06	0	4.474e-05	0	2.519e-05	0	0.0002	2.698e-06	3.314e-05	0	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	6.828e-05	2.857e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	0.042	0.51112	D	.	.	.	.	.	.	.	.	.	.	0.997231	0.43729	D	2.125	0.59049	M	.	.	.	.	.	.	0.205	0.25006	-0.0073	0.82105	T	0.586	0.85149	D	9	0.47849625	0.60288	T	0.046127	0.62310	D	.	.	0.689	0.82653	0.702337487306	0.69975	0.35872704743815653	0.35786	.	.	0.532038211823	0.43322	T	0.119067	0.44033	T	-0.125874	0.32164	T	-0.321732	0.42384	T	0.842430353164673	0.49526	D	0.913109	0.69007	D	0.21249045	0.43603	0.3253939	0.58455	0.21249045	0.43603	0.3253939	0.58455	-7.547	0.57940	D	.	.	0.234	0.46688	B	.;.	.;.	3.070289	0.41265	21.3	0.99622581377615338	0.75533	0.99256	0.93532	D	AEFGBI	0.706846	0.66177	D	0.49265294690341	0.66658	4.978892	0.41034615029886	0.62207	4.432504	0.999999999997889	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.68	4.68	0.58319	0.481000	0.21969	.	.	0.549000	0.26987	0.066000	0.21956	0.002000	0.18203	0.589000	0.31115	0.0:1.0:0.0:0.0	15.107	0.72000	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2132.33	142	chr8	143867220	.	C	T	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.306;DP=2212;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.881;SOR=0.653	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2146,0,2089	18	0	1	0
chr8	143923226	143923226	C	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G6661T:p.V2221L,PLEC:NM_201379:exon31:c.G6637T:p.V2213L,PLEC:NM_201380:exon31:c.G7114T:p.V2372L,PLEC:NM_201381:exon31:c.G6607T:p.V2203L,PLEC:NM_201382:exon31:c.G6703T:p.V2235L,PLEC:NM_201383:exon31:c.G6715T:p.V2239L,PLEC:NM_201384:exon31:c.G6703T:p.V2235L,PLEC:NM_000445:exon32:c.G6784T:p.V2262L	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1870150	Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.231442668164	.	.	5.193e-05	0	8.87e-05	0	0	0	0.0012	0.0002	3.88e-05	6	154602	.	4.204e-05	4.241e-05	1.647e-05	6.783e-05	0.0007	3.335e-05	3.023e-05	0.0006	0.0005	0	0	0	0	0	0	0	0	0.0007	2.626e-05	2.624e-05	1.285e-05	4.027e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.038	0.44358	D	0.596	0.13140	T	0.057	0.22878	B	0.059	0.26602	B	0.582178	0.11133	U	0.740726	0.940051	0.26819	N	0.345	0.11182	N	-0.97	0.76037	T	-1.01	0.27463	N	0.345	0.53357	-0.9505	0.40885	T	0.158	0.49145	T	10	0.07839686	0.12491	T	0.231443	0.88276	D	0.178	0.44724	0.113	0.02240	0.453119318887	0.44934	0.40994276400030155	0.40910	.	.	0.563351511955	0.47740	T	0.079298	0.36095	T	-0.344347	0.05093	T	-0.371613	0.36700	T	0.0330050369923127	0.02472	T	0.963104	0.86259	D	0.032709565	0.03348	0.059349	0.11122	0.032709565	0.03348	0.059349	0.11121	-2.214	0.04138	T	0.18144399561117197	0.23397	0.168	0.44319	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.567260	0.33263	19.29	0.79107407457565404	0.12593	0.70735	0.34714	D	AEFDBCI	0.373484	0.45874	N	-0.903693179027637	0.10754	0.5155276	-0.768805296471018	0.15261	0.8017409	0.999994603496979	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.11	3.01	0.33872	1.878000	0.39244	.	.	-0.219000	0.08017	0.788000	0.29570	0.998000	0.33993	0.063000	0.16184	0.0:0.6068:0.0:0.3932	6.644	0.22116	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	5020.33	54	chr8	143923226	.	C	A	5020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1606;ExcessHet=0;FS=1.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=1.28;SOR=0.6	GT:AD:DP:GQ:PL	0/1:146,189:335:99:5034,0,3337	18	0	1	0
chr8	144059000	144059000	C	G	exonic	OPLAH	.	nonsynonymous SNV	OPLAH:NM_017570:exon4:c.G443C:p.G148A	5-oxoprolinase deficiency, Autosomal recessive, Autosomal dominant	8	1436	75	3	0	81	0.0274297	.	.	.	1155884	5-Oxoprolinase_deficiency|not_provided	Human_Phenotype_Ontology:HP:0040142,MONDO:MONDO:0009825,MedGen:C0268525,OMIM:260005,Orphanet:33572|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.168	.	0.0028	0.00778754	0.0178	0.0004	0.007	0	0.0181	0.0153	0.0254	0.0298	0.0055045	851	154602	rs111254751	0.0057	0.0057	0.0050	0.0064	0.0276	0.0056	0.0055	0.0266	0.0263	0.0008	0.0024	0.0171	5.414e-05	0.0068	0.0117	0.0041	0.0070	0.0276	0.0049	0.0049	0.0041	0.0057	0.0302	0.0046	0.0045	0.0262	0.0247	0.0007	0.0219	0.0040	0.0159	0.0002	0.0064	0.0102	0.0051	0.0076	0.0302	.	.	.	0.973	0.02465	T	0.0	0.02946	B	0.001	0.04355	B	0.064554	0.21945	N	0.519343	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.24758	-1.0098	0.26981	T	0.061	0.25599	T	7	0.0035135448	0.00063	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.4468107289468494	0.44599	.	.	0.525523781776	0.42404	T	0.016585	0.13680	T	-0.42694	0.01547	T	-0.365097	0.37462	T	0.0111118180138151	0.00162	T	0.747125	0.40643	T	0.05118481	0.09360	0.16104926	0.37481	0.07288646	0.16248	0.16104926	0.37480	-3.212	0.12628	T	.	.	0.076	0.10111	B	.;.	.;.	1.347973	0.17552	13.23	0.74080945676488097	0.10563	0.26411	0.22985	N	AEFDBCI	0.111567	0.22085	N	-0.845587006874686	0.12158	0.5909702	-0.847139071525035	0.13356	0.692433	0.999998739767042	0.74766	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.079188	0.02158	0	.	.	4.83	3.79	0.42757	1.513000	0.35430	.	.	0.587000	0.30956	0.001000	0.13787	1.000000	0.68203	0.020000	0.11549	0.0:0.8578:0.0:0.1422	8.797	0.34047	970	0.06235	Hydantoinaseoxoprolinase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015291	0.000000	0.005495	0.005917	0.000000	0.017544	0.021875	0.050000	0.02632	1120.33	37	chr8	144059000	.	C	G	1120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.242;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.692;SOR=0.68	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1134,0,975	18	0	1	0
chr8	144084422	144084422	G	C	exonic	GPAA1	.	nonsynonymous SNV	GPAA1:NM_003801:exon7:c.G823C:p.E275Q	.	427	1037	57	1	0	59	0.0276606	.	.	.	700476	not_provided|GPAA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.158	.	0.0071	0.0113818	0.0093	0.0136	0.0029	0	0.0056	0.0064	0.0112	0.0288	0.0085381	1320	154602	rs112703109	0.0061	0.0061	0.0054	0.0068	0.0283	0.0060	0.0060	0.0274	0.0270	0.0104	0.0034	0.0168	5.045e-05	0.0065	0.0115	0.0042	0.0080	0.0283	0.0082	0.0082	0.0077	0.0086	0.0301	0.0078	0.0076	0.0261	0.0246	0.0116	0.0219	0.0069	0.0161	0.0002	0.0065	0.0102	0.0050	0.0100	0.0301	0.808	0.03937	T	0.641	0.07059	T	0.0	0.02946	B	0.0	0.04355	B	0.004508	0.33669	N	0.285262	1	0.08975	N	0.975	0.24501	L	.	.	.	0.34	0.03824	N	0.207	0.22998	-1.0353	0.18762	T	0.021	0.08732	T	9	0.0058893263	0.00132	T	.	.	.	0.158	0.41098	.	.	0.427368086475	0.42351	0.39298266091804934	0.39213	0.313169303204	0.33613	0.452805101871	0.32327	T	0.006263	0.05696	T	-0.671781	0.00054	T	-0.716114	0.04985	T	0.00119590860515189	0.00012	T	0.0780922	0.00575	T	0.09958066	0.23503	0.08253118	0.18843	0.076935574	0.17429	0.08253118	0.18843	-1.956	0.03019	T	.	.	0.061	0.01109	B	.;.;.	.;.;.	2.059556	0.26183	17.03	0.56832782611436206	0.05637	0.11326	0.16559	N	AEFGBI	0.047115	0.07899	N	-0.725702155193589	0.15301	0.7699469	-0.521972702784209	0.21557	1.16673	0.999990255331074	0.74766	0.736574	0.97449	0	0.685571	0.66316	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.59	4.52	0.54797	0.977000	0.29072	4.774000	0.44793	-0.174000	0.10959	0.995000	0.38783	1.000000	0.68203	0.436000	0.27583	0.0:0.7661:0.1459:0.088	10.019	0.41201	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.006793	0.005848	0.000000	0.025862	0.018293	0.037879	0.02632	1449.33	35	chr8	144084422	.	G	C	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=845;ExcessHet=0;FS=5.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.867;SOR=1.253	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1463,0,1160	18	0	1	0
chr8	144085458	144085458	C	T	exonic	GPAA1	.	nonsynonymous SNV	GPAA1:NM_003801:exon10:c.C1430T:p.A477V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.00851862146208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.11586	T	1.0	0.01155	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.635	0.15989	N	.	.	.	0.12	0.05604	N	0.663	0.69737	-0.8299	0.53308	T	0.229	0.59396	T	9	0.64279103	0.69154	D	0.008519	0.22532	T	0.252	0.56159	0.531	0.63855	0.647601017301	0.64468	0.43096968766715454	0.43013	0.483291887434	0.47286	0.642113149166	0.58864	T	0.004468	0.03877	T	0.178254	0.71881	D	0.0182731	0.71518	D	0.870857775211334	0.52076	D	0.918608	0.70760	D	0.4406316	0.63443	0.34285456	0.60005	0.4406316	0.63444	0.34285456	0.60005	-5.051	0.37537	T	0.3848427014760419	0.47878	0.256	0.51472	B	.;.	.;.	4.513628	0.70700	25.6	0.98415638993433641	0.41223	0.98976	0.89428	D	AEFDGBHI	0.841907	0.75906	D	0.504069795319267	0.67331	5.067279	0.542424178895686	0.70871	5.569529	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	6.621000	0.74096	7.563000	0.60525	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:1.0:0.0:0.0	15.834	0.78555	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	908.33	35	chr8	144085458	.	C	T	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.785;DP=775;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.126;SOR=0.781	GT:AD:DP:GQ:PL	0/1:52,35:87:99:922,0,1437	18	0	1	0
chr8	144098948	144098948	C	T	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon8:c.G1094A:p.R365H	.	404	1062	55	1	0	57	0.0261348	.	.	.	722937	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.454	.	0.0038	0.0071885	0.0081	0.0005	0.0023	0.0002	0.0061	0.0064	0.0114	0.0285	0.007432	1149	154602	rs112552278	0.0057	0.0058	0.0050	0.0064	0.0279	0.0056	0.0056	0.0270	0.0266	0.0007	0.0026	0.0170	0.0002	0.0069	0.0111	0.0041	0.0070	0.0279	0.0049	0.0049	0.0041	0.0056	0.0294	0.0046	0.0045	0.0255	0.0240	0.0007	0.0219	0.0041	0.0161	0.0004	0.0069	0.0102	0.0049	0.0080	0.0294	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999915	0.81001	D	3.055	0.86842	M	0.34	0.58176	T	-4.96	0.81985	D	0.49	0.52386	-0.3880	0.72404	T	0.267	0.63876	T	9	0.00789538	0.00179	T	.	.	.	0.454	0.75347	.	.	0.727222142171	0.72480	0.7223741412141915	0.72181	0.749429864137	0.63691	0.610623657703	0.54403	T	0.357198	0.91100	T	-0.174483	0.24559	T	-0.0017796	0.70220	D	0.0476921721552501	0.05088	T	0.957404	0.83962	D	0.45455357	0.64330	0.37070495	0.62314	0.45455357	0.64330	0.37070495	0.62314	-9.367	0.70028	D	.	.	0.360	0.58452	A	.;.	.;.	5.139902	0.86053	28.8	0.99924115266711533	0.98980	0.96159	0.67803	D	AEFDBHCI	0.679610	0.64358	D	0.667513532820516	0.77506	6.687858	0.579683679077292	0.73484	5.978135	0.999999999995895	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.32	4.32	0.50899	4.469000	0.59902	5.907000	0.50968	0.585000	0.30472	0.993000	0.37899	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	12.509	0.55341	970	0.06235	Zinc finger, RanBP2-type|Zinc finger, RanBP2-type|Zinc finger, RanBP2-type|Zinc finger, RanBP2-type;Zinc finger, RanBP2-type|Zinc finger, RanBP2-type|Zinc finger, RanBP2-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	0	0	1	0	0.013609	0.005102	0.005435	0.005848	0.000000	0.017241	0.018293	0.037879	0.02632	1345.33	38	chr8	144098948	.	C	T	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.464;DP=744;ExcessHet=0;FS=1.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=1.78;SOR=0.931	GT:AD:DP:GQ:PL	0/1:36,54:90:99:1359,0,769	18	0	1	0
chr9	441409	441409	G	A	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon39:c.G5047A:p.V1683I,DOCK8:NM_001193536:exon40:c.G5143A:p.V1715I,DOCK8:NM_203447:exon41:c.G5347A:p.V1783I	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1350282	Hyper-IgE_recurrent_infection_syndrome_3,_autosomal_recessive	MONDO:MONDO:0032654,MedGen:C4748969,OMIM:618282,Orphanet:641368	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0077163079828	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.29e-05	2	154602	rs532879343	1.026e-05	1.026e-05	8.167e-06	1.238e-05	5.974e-05	6.16e-06	4.89e-06	9.89e-06	4.56e-06	5.974e-05	0	0	0	0	0	8.093e-06	1.656e-05	3.478e-05	1.314e-05	1.313e-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	0.003	0.68238	D	0.486	0.11691	T	0.0	0.02946	B	0.0	0.04355	B	0.001376	0.39242	N	0.222920	0.999556	0.47544	D	-0.31	0.03598	N	2.29	0.17113	T	-0.91	0.24460	N	0.131	0.18376	-0.9804	0.34909	T	0.017	0.06902	T	10	0.057432145	0.06596	T	0.007716	0.20483	T	0.045	0.12272	0.291	0.25241	0.134241683229	0.13084	0.20255610780770006	0.20172	0.037617210021	0.03990	0.310823142529	0.12031	T	0.074662	0.34991	T	-0.483475	0.00706	T	-0.750727	0.03458	T	0.0700463060033693	0.08657	T	0.775222	0.40690	T	0.010578665	0.00008	0.019509764	0.00092	0.010578665	0.00008	0.019509764	0.00092	-2.556	0.06176	T	0.05907963912862639	0.01537	0.059	0.02370	B	.;.;.;.	.;.;.;.	0.875895	0.12489	9.021	0.47896460187815904	0.03953	0.24229	0.22328	N	AEFDBI	0.042095	0.06488	N	-0.937429927135172	0.09977	0.4746253	-0.808261587052807	0.14296	0.7462188	0.78698625102513	0.23947	0.706548	0.73137	0	0.724815	0.89359	0	0.597571	0.31856	0	0.478617	0.07155	0	.	.	5.36	1.61	0.22752	1.061000	0.30152	6.107000	0.53619	-0.116000	0.14526	0.933000	0.32380	1.000000	0.68203	0.005000	0.06747	0.5598:0.2902:0.15:0.0	5.192	0.14542	767	0.49651	Dedicator of cytokinesis, C-terminal|DHR-2 domain;.;.;Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1440.33	35	chr9	441409	.	G	A	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.343;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.168;SOR=0.653	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1454,0,1348	18	0	1	0
chr9	20885205	20885205	A	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon20:c.A2495G:p.Q832R,FOCAD:NM_001375570:exon20:c.A2495G:p.Q832R,FOCAD:NM_001375567:exon21:c.A2600G:p.Q867R,FOCAD:NM_017794:exon23:c.A2600G:p.Q867R	.	428	1087	7	0	0	7	0.00320954	.	.	.	1269746	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.239	.	0.0003	0.0125799	0.0056	0.0005	0.0067	0.0637	0.0002	0.0001	0.0022	0.0017	0.0051875	802	154602	rs117863779	0.0023	0.0023	0.0023	0.0022	0.0665	0.0022	0.0022	0.0643	0.0634	0.0003	0.0079	0	0.0665	5.909e-05	0.0004	6.075e-05	0.0029	0.0021	0.0033	0.0033	0.0029	0.0037	0.0567	0.0031	0.0030	0.0513	0.0493	0.0009	0	0.0094	0	0.0567	0	0	5.879e-05	0.0033	0.0035	0.007	0.59928	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	3.03	0.08898	T	-1.78	0.42001	N	0.833	0.82862	-1.1167	0.02552	T	0.004	0.01261	T	10	0.0039061606	0.00074	T	.	.	.	0.239	0.54358	.	.	0.554477701018	0.55106	0.6182940260729198	0.61762	0.00671808178794	0.00592	0.593085110188	0.51930	T	0.152573	0.49303	T	-0.298231	0.08828	T	-0.153269	0.58954	T	0.0297225543720126	0.01947	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.61130	A	.;.;.	.;.;.	3.839336	0.55545	23.6	0.99672373701489736	0.78652	0.97137	0.72907	D	ALL	0.774155	0.70795	D	0.389117519333634	0.60833	4.276602	0.396097131475783	0.61325	4.33092	0.999999999982716	0.74766	0.77792	0.99625	0	0.854111	0.99885	0	0.691618	0.62860	0	0.825845	0.99933	0	.	.	5.3	5.3	0.74745	6.662000	0.74271	8.130000	0.76651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	1.0:0.0:0.0:0.0	15.548	0.75856	565	0.70868	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	511.33	33	chr9	20885205	.	A	G	511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.257;DP=661;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.887;SOR=0.481	GT:AD:DP:GQ:PL	0/1:24,27:51:99:525,0,535	18	0	1	0
chr9	35308215	35308215	C	G	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371189:exon9:c.C8811G:p.H2937Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1029775765	2.426e-05	9.542e-06	4.925e-05	0	3.784e-05	9.71e-06	6.72e-06	1.559e-05	1.092e-05	0	0	0	0	0	0	3.784e-05	0	0	2.627e-05	2.625e-05	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058068335	0.06768	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267173	0.04416	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.	.	-0.556730	0.01695	0.123	0.4747402879174758	0.03884	0.18563	0.20311	N	AEFI	.	.	.	.	.	.	.	.	.	0.00242262108974142	0.09418	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.046323	0.05263	5.97	0.431	0.15736	-1.179000	0.03200	-2.756000	0.03394	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.6116:0.0:0.3884	10.501	0.43991	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	32.6	.	chr9	35308215	.	C	G	32.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.383;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-1.383;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,72	7	0	1	11
chr9	35609467	35609467	C	T	exonic	TESK1	.	nonsynonymous SNV	TESK1:NM_001318230:exon9:c.C1126T:p.R376W,TESK1:NM_006285:exon10:c.C1606T:p.R536W	.	405	1102	15	0	0	15	0.0067598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0590992691313	0.0005	0.00119808	0.0017	0.0001	0.0003	0	0	0.0008	0.0048	0.0096	0.0015459	239	154602	rs142237307	0.0014	0.0014	0.0011	0.0017	0.0093	0.0014	0.0013	0.0087	0.0085	0.0002	0.0003	3.925e-05	2.526e-05	0.0001	0.0035	0.0010	0.0013	0.0093	0.0009	0.0009	0.0008	0.0009	0.0087	0.0007	0.0007	0.0066	0.0059	0.0002	0	0.0004	0	0	9.409e-05	0.0068	0.0010	0.0024	0.0087	0.021	0.49117	D	0.049	0.48336	D	0.998	0.73220	D	0.672	0.53180	P	0.000849	0.41440	D	0.000000	0.899847	0.27722	N	0.55	0.14455	N	-1.01	0.76168	T	-1.24	0.31375	N	0.413	0.50146	-0.6461	0.62883	T	0.287	0.65928	T	10	0.0065475404	0.00148	T	0.059099	0.67549	D	0.368	0.68757	.	.	0.401767401478	0.39795	0.28985926085404706	0.28898	0.341483176748	0.36081	0.686551809311	0.65210	T	0.054849	0.29839	T	-0.285391	0.10104	T	-0.175756	0.56915	T	0.0295003317975454	0.01913	T	0.889511	0.62170	D	0.074388996	0.16690	0.061992697	0.12058	0.074388996	0.16690	0.061992697	0.12058	-4.705	0.33465	T	.	.	0.108	0.26482	B	.;.	.;.	3.759876	0.53945	23.4	0.99731167070129467	0.82761	0.37865	0.25858	N	AEFDBI	0.196444	0.32342	N	-0.111901396523476	0.36875	2.137384	-0.104612474088652	0.35204	2.033942	0.999943329219494	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.17	0.34	0.15224	-0.074000	0.11410	2.323000	0.32147	0.589000	0.31548	0.290000	0.25233	1.000000	0.68203	0.998000	0.85391	0.4871:0.4247:0.0:0.0881	7.764	0.28133	234	0.90879	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.005848	0.000000	0.000000	0.000000	0.011364	0.05263	2585.83	34	chr9	35609467	.	C	T	2585.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=779;ExcessHet=0.119;FS=2.761;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.551;SOR=0.939	GT:AD:DP:GQ:PL	0/1:27,37:64:99:1050,0,597	17	0	2	0
chr9	35906578	35906578	-	CACCACCTCCAC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.291_292insCACCACCTCCAC:p.H103_H104insLHHH	.	594	912	5	3	8	19	0.00599455	.	.	.	3887060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.1283	.	0.0017	0	0.0009	0.0002	0	0.0024	0.0137	0.0014	5.17e-05	8	154602	rs745974201	0.0046	0.0047	0.0046	0.0047	0.0113	0.0045	0.0045	0.0086	0.0076	0.0008	0.0023	0.0269	0.0001	6.03e-05	0.0113	0.0045	0.0065	0.0039	0.0062	0.0068	0.0061	0.0064	0.0068	0.0057	0.0055	0.0061	0.0058	0.0023	0.0030	0.0041	0.0396	0	0	0	0.0068	0.0084	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1324.8	51	chr9	35906578	.	T	TCACCACCTCCAC	1324.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=865;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=1.05;SOR=0.746	GT:AD:DP:GQ:PL	0/1:3,19:22:64:721,0,64	17	0	2	0
chr9	42187639	42187639	G	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.G1937T:p.G646V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0327215170659	.	.	.	.	.	.	.	.	.	.	.	.	.	rs553243905	2.894e-06	5.593e-06	0	5.812e-06	2.456e-05	6.8e-07	4.6e-07	4.08e-06	1.53e-06	0	2.344e-05	0	0	0	0	0	1.757e-05	2.456e-05	0	7.437e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.205494	0.16494	N	0.517116	0.999966	0.18878	N	.	.	.	3.06	0.08634	T	-6.87	0.93175	D	0.127	0.12055	-1.1096	0.03104	T	0.050	0.21182	T	10	0.20917526	0.37272	T	0.002077	0.03828	T	.	.	.	.	0.266843984389	0.26308	0.10570439488518442	0.10500	.	.	0.334192693233	0.15566	T	0.104973	0.41503	T	-0.28152	0.10507	T	-0.642161	0.09512	T	0.240222989482147	0.22430	T	0.557244	0.19380	T	0.38358283	0.59574	0.2975186	0.55785	0.38358283	0.59575	0.2975186	0.55784	-7.394	0.56862	T	.	.	0.205	0.43144	B	.	.	1.916782	0.24347	16.36	0.98793784924134065	0.46333	0.01822	0.05664	N	AEFI	.	.	.	-0.270398820506792	0.30297	1.687972	-0.549742484110675	0.20813	1.123076	1.79801135556581E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.55	1.58	0.22557	-0.149000	0.10189	-4.593000	0.02078	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.173000	0.21076	0.0:0.2822:0.7178:0.0	7.111	0.24568	994	0.00715	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	76.13	35	chr9	42187639	.	G	T	76.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.634;DP=751;ExcessHet=0;FS=4.158;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.029;MQ=47.75;MQRankSum=-4.669;QD=0.56;ReadPosRankSum=-1.947;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,13:137:89:0|1:42187630_C_T:89,0,5026:42187630	16	0	1	2
chr9	61194035	61194035	G	T	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon4:c.G1949T:p.G650V,SPATA31A7:NM_015667:exon4:c.G1949T:p.G650V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000491242757186	.	0.000399361	0.0001	0	0	0	0	0	0	0.0010	7.68e-05	2	26028	.	4.995e-06	6.276e-06	0	1.005e-05	8.868e-05	2.08e-06	1.34e-06	4.077e-05	2.862e-05	0	0	0	0	0	0	0	0	8.868e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.47672	.	.	.	.	.	.	.	0.24839976	0.42136	T	.	.	.	.	.	.	.	.	.	0.13218726469605552	0.13143	.	.	.	.	.	0.131226	0.46060	T	.	.	.	.	.	.	.	.	.	0.555444	0.19245	T	.	.	.	.	.	.	.	.	-7.24	0.55768	T	.	.	0.188	0.40489	B	.	.	1.925412	0.24457	16.40	.	.	.	.	.	.	0.034471	0.04275	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278000	0.18514	-2.200000	0.04067	0.230000	0.18142	0.001000	0.13787	0.000000	0.08366	0.213000	0.22268	.	.	.	.	.	SPATA31/FAM205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	1321.86	37	chr9	61194035	.	G	T	1321.86	.	AC=2;AF=0.059;AN=34;DP=583;ExcessHet=0;FS=0;InbreedingCoeff=0.8477;MLEAC=2;MLEAF=0.059;MQ=35.8;QD=25.42;SOR=1.747	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1347,155,0	16	1	0	2
chr9	77415977	77415977	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon71:c.G9379A:p.E3127K,VPS13A:NM_033305:exon72:c.G9496A:p.E3166K	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0448598136812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.021	0.58089	D	0.2	0.54977	B	0.049	0.46092	B	0.000095	0.51296	D	0.179045	0.994807	0.42423	D	0.55	0.14455	N	0.81	0.48460	T	-1.86	0.43524	N	0.284	0.37613	-0.7341	0.58756	T	0.236	0.60367	T	9	0.19754383	0.35689	T	0.04486	0.61695	D	0.136	0.36778	0.385	0.40460	0.618819884562	0.61573	0.4039414298073986	0.40310	0.34022045831	0.35964	0.543470978737	0.44936	T	0.307494	0.67964	T	0.0678128	0.60581	T	-0.140368	0.60086	T	0.760906159877777	0.43903	D	0.950405	0.81010	D	0.1671515	0.37094	0.20360571	0.44445	0.1671515	0.37094	0.20360571	0.44444	-5.412	0.41035	T	.	.	0.380	0.58440	A	.;.;.	.;.;.	4.075707	0.60593	24.2	0.99916110316123541	0.98379	0.98748	0.86347	D	AEFGI	0.663113	0.63274	D	0.320057073463865	0.57179	3.884287	0.460985330226583	0.65425	4.822259	0.999999998084998	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.06	6.06	0.98340	6.015000	0.70444	11.849000	0.98023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.0:1.0:0.0	17.538	0.87734	753	0.51500	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1206.81	35	chr9	77415977	.	G	A	1206.81	.	AC=2;AF=0.053;AN=38;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.73;SOR=0.788	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1234,126,0	18	1	0	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1538	307.01	78	chr9	86018822	.	G	C	307.01	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.648;DP=1347;ExcessHet=0.7564;FS=158.178;InbreedingCoeff=-0.2266;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.93;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,21:78:99:0|1:86018822_G_C:185,0,1414:86018822	9	0	4	6
chr9	87885516	87885516	C	A	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.C1029A:p.D343E	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0134944229848	.	.	3.297e-05	0	0	0	0	5.997e-05	0	0	2.59e-05	4	154602	rs752849214	3.557e-05	3.557e-05	2.586e-05	4.538e-05	0.0012	2.762e-05	2.501e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	2.878e-05	0.0002	1.159e-05	3.285e-05	3.283e-05	5.138e-05	1.345e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	4.409e-05	0	0	0.016	0.51853	D	0.258	0.23164	T	0.999	0.77913	D	0.973	0.72923	D	.	.	.	.	1	0.08975	N	2.36	0.67893	M	3.55	0.04746	T	-2.53	0.54864	D	0.051	0.02272	-1.0024	0.29226	T	0.024	0.10419	T	9	0.14130977	0.26851	T	0.013494	0.32933	T	0.047	0.12962	0.332	0.31843	0.0297737177859	0.01360	0.015579570648340027	0.01513	0.0512487584637	0.05640	0.467757284641	0.34372	T	0.027619	0.20184	T	-0.416233	0.01809	T	-0.705215	0.05546	T	0.609409153461456	0.36777	D	0.340966	0.07383	T	0.08664352	0.20147	0.11255765	0.27159	0.08664352	0.20146	0.11255765	0.27158	-5.684	0.43551	T	.	.	0.222	0.45347	B	.	.	1.293215	0.16940	12.86	0.98701898497851204	0.44924	0.00922	0.03585	N	AEFBI	0.035362	0.04537	N	-0.499752278209978	0.22089	1.177019	-0.776803585493967	0.15064	0.7904105	0.966008304594647	0.28871	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.37	-1.08	0.09428	-0.259000	0.08742	-8.659000	0.00933	0.552000	0.28158	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1958:0.3719:0.1914:0.2409	0.619	0.00724	956	0.09877	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	5386.81	34	chr9	87885516	.	C	A	5386.81	.	AC=2;AF=0.053;AN=38;DP=1296;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.09;SOR=0.704	GT:AD:DP:GQ:PL	1/1:0,179:179:99:5414,537,0	18	1	0	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:188,125:328:99:666,0,3179	1	0	18	0
chr9	104791984	104791984	C	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon43:c.G5772C:p.K1924N	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.06221081517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0	5.055e-05	0	0	0.0002	0.0001	4.657e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.091	0.40110	T	0.247	0.31125	B	0.088	0.29688	B	0.000000	0.84330	D	0.045089	0.999755	0.48800	D	1.13	0.28900	L	-3.17	0.93054	D	-1.21	0.30762	N	0.552	0.57775	0.200	0.85915	D	0.664	0.88344	D	10	0.61665916	0.67744	D	0.062211	0.68581	D	0.335	0.65718	0.505	0.59924	0.9309695667	0.93025	0.7757620043553375	0.77526	0.840773140511	0.68051	0.697716891766	0.66815	T	0.417549	0.77016	T	0.0336622	0.56210	T	-0.189423	0.55645	T	0.914153516292572	0.57069	D	0.827217	0.49094	T	0.21141762	0.43466	0.13099158	0.31463	0.21141762	0.43466	0.13099158	0.31462	-2.565	0.06242	T	0.3071058489311145	0.40482	0.557	0.67094	A	.	.	3.371619	0.46592	22.3	0.995040822481701	0.68206	0.88309	0.48179	D	ALL	0.483156	0.52372	N	-0.0355436023887051	0.40251	2.387167	0.105231415740194	0.44815	2.756065	0.999999999999994	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.82	4.92	0.64147	1.071000	0.30278	1.106000	0.24114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.733:0.0:0.267	9.087	0.35749	950	0.11238	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	.	.	.	.	.	.	.	.	0.05263	46.04	75	chr9	104791984	.	C	G	46.04	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.486;DP=1789;ExcessHet=0.119;FS=235.292;InbreedingCoeff=-0.0545;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=1.41;SOR=11.414	GT:AD:DP:GQ:PL	0/1:70,27:97:59:59,0,1364	17	0	2	0
chr9	110427708	110427708	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon36:c.G5858A:p.R1953K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0003	0.00738818	0.0024	0.0011	0	0.0299	0	1.5e-05	0.0011	0.0010	0.0023286	360	154602	rs17204832	0.0009	0.0009	0.0009	0.0009	0.0252	0.0009	0.0008	0.0239	0.0234	0.0006	2.237e-05	0	0.0252	0	0.0002	1.529e-05	0.0031	0.0010	0.0013	0.0013	0.0011	0.0016	0.0290	0.0012	0.0011	0.0252	0.0238	0.0007	0	0.0003	0	0.0290	0	0	1.47e-05	0.0005	0.0031	.	.	.	0.043	0.50226	D	0.101	0.25775	B	0.061	0.26820	B	0.393023	0.13229	N	0.761271	1	0.18878	N	0.99	0.25021	L	.	.	.	.	.	.	0.051	0.02658	-0.9869	0.33371	T	0.019	0.07846	T	10	0.001588136	0.00018	T	.	.	.	0.045	0.12272	.	.	0.043077524339	0.03247	0.4024899903170348	0.40164	0.0930429188605	0.10513	0.374419778585	0.21463	T	0.006392	0.05823	T	-0.640172	0.00083	T	-0.667965	0.07739	T	0.00121171389751553	0.00012	T	0.411059	0.10645	T	0.054661173	0.10516	0.066395745	0.13595	0.054661173	0.10516	0.066395745	0.13595	-1.463	0.01690	T	.	.	0.088	0.11558	B	.;.	.;.	1.381814	0.17934	13.45	0.94079956229853556	0.24227	0.20474	0.21054	N	ALL	0.130141	0.24858	N	-0.890120415360085	0.11076	0.5326238	-0.8008489852268	0.14475	0.756496	0.999999698154986	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	6.17	-0.281	0.12244	0.470000	0.21795	1.342000	0.25744	-0.173000	0.11020	0.022000	0.19841	0.998000	0.33993	0.947000	0.49155	0.0:0.5622:0.1886:0.2492	8.661	0.33253	967	0.07127	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	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1588.33	35	chr9	110427708	.	C	T	1588.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.282;DP=787;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.06;SOR=0.607	GT:AD:DP:GQ:PL	0/1:61,67:128:99:1602,0,1560	18	0	1	0
chr9	112454041	112454041	A	G	exonic	C9orf147;HSDL2	.	nonsynonymous SNV	C9orf147:NM_001350649:exon5:c.T415C:p.F139L	.	434	1086	2	0	0	2	0.000919963	.	.	.	723249	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0003	0.0255591	0.0098	0.0009	0.0002	0.1290	0	0.0001	0.0078	0.0030	0.0092302	1427	154602	rs3739696	0.0035	0.0035	0.0035	0.0035	0.1081	0.0034	0.0034	0.1054	0.1043	0.0003	0.0002	0	0.1081	0	0.0003	5.486e-05	0.0070	0.0038	0.0046	0.0046	0.0037	0.0056	0.1181	0.0043	0.0042	0.1104	0.1073	0.0004	0	0.0010	0	0.1181	0	0	7.351e-05	0.0038	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1057.33	34	chr9	112454041	.	A	G	1057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=692;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=0.643;SOR=0.515	GT:AD:DP:GQ:PL	0/1:26,39:65:99:1071,0,621	18	0	1	0
chr9	127660064	127660064	C	T	exonic	STXBP1	.	nonsynonymous SNV	STXBP1:NM_001032221:exon5:c.C281T:p.P94L,STXBP1:NM_001374306:exon5:c.C281T:p.P94L,STXBP1:NM_001374309:exon5:c.C239T:p.P80L,STXBP1:NM_001374313:exon5:c.C281T:p.P94L,STXBP1:NM_001374314:exon5:c.C281T:p.P94L,STXBP1:NM_001374315:exon5:c.C281T:p.P94L,STXBP1:NM_003165:exon5:c.C281T:p.P94L,STXBP1:NM_001374307:exon6:c.C239T:p.P80L,STXBP1:NM_001374308:exon6:c.C239T:p.P80L,STXBP1:NM_001374310:exon6:c.C239T:p.P80L,STXBP1:NM_001374311:exon6:c.C239T:p.P80L,STXBP1:NM_001374312:exon6:c.C239T:p.P80L	Epileptic encephalopathy, early infantile, 4, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	202285	not_provided|Developmental_and_epileptic_encephalopathy|Inborn_genetic_diseases|STXBP1-related_disorder	MedGen:C3661900|MONDO:MONDO:0100620,MedGen:C5779964|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.504	0.146179005782	.	0.000399361	0.0006	0	0	0	0	0.0001	0.0011	0.0038	0.0004851	75	154602	rs200802985	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0033	0.0001	2.236e-05	0	0	0	0.0019	5.935e-05	0.0004	0.0038	0.0002	0.0002	6.426e-05	0.0002	0.0029	0.0001	8.718e-05	0.0018	0.0014	0	0	0	0	0	0	0.0068	0.0001	0	0.0029	0.375	0.12305	T	0.346	0.25514	T	0.884	0.49920	P	0.301	0.42079	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	-1.43	0.80730	T	-2.9	0.60827	D	0.62	0.63544	-0.1807	0.78163	T	0.437	0.77663	T	10	0.015435487	0.00324	T	0.146179	0.82832	D	0.504	0.78600	0.508	0.60386	0.465294880039	0.46155	0.7702628033920702	0.76975	2.19608821648	0.95661	0.638997256756	0.58422	T	0.242093	0.95679	T	-0.30345	0.08337	T	-0.209817	0.53714	T	0.111827492650109	0.13611	T	0.928457	0.74459	D	0.30016285	0.52919	0.26165673	0.51946	0.3300729	0.55477	0.2628491	0.52082	-7.145	0.55086	T	0.2596856309852104	0.35076	0.070	0.13409	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.640773	0.73874	26.1	0.98886309382614312	0.47912	0.98517	0.83624	D	AEFBI	0.921275	0.89450	D	0.489040406360738	0.66447	4.951477	0.525591172669015	0.69719	5.40045	0.999999985240357	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	4.76	0.60189	5.970000	0.70134	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9204:0.0:0.0796	12.812	0.57026	346	0.85643	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.011364	0.02632	2847.33	34	chr9	127660064	.	C	T	2847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.57;DP=861;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.23;SOR=0.674	GT:AD:DP:GQ:PL	0/1:107,108:215:99:2861,0,2405	18	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,13:69:59:.:.:59,0,908:.	5	0	12	2
chr9	130354885	130354885	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon32:c.G4987A:p.E1663K	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0107	0	0.0154	0	0	0.0204	0.0064	0.0064	0.0022445	347	154602	rs147929126	0.0066	0.0052	0.0064	0.0067	0.0091	0.0064	0.0064	0.0069	0.0061	0.0006	0.0067	0.0468	0	0.0041	0.0091	0.0061	0.0081	0.0064	0.0056	0.0056	0.0057	0.0056	0.0105	0.0053	0.0052	0.0092	0.0087	0.0017	0	0.0105	0.0406	0	0.0031	0.0204	0.0060	0.0047	0.0052	.	.	.	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.0061682463	0.00139	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5057489386732594	0.50496	.	.	.	.	.	0.011027	0.09890	T	-0.481281	0.00727	T	-0.459958	0.26603	T	.	.	.	0.614539	0.23442	T	0.093031876	0.21839	0.25402975	0.51061	0.093031876	0.21839	0.25402975	0.51060	-4.351	0.28886	T	.	.	0.075	0.05579	B	.	.	2.883339	0.38162	20.7	0.99755237795846929	0.84615	0.93249	0.57715	D	AEFDBI	0.496276	0.53129	N	.	.	.	.	.	.	0.0834187431312703	0.15927	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.26	3.36	0.37579	4.408000	0.59518	4.373000	0.43156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.1035:0.0:0.8965:0.0	9.926	0.40661	576	0.70006	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3119.83	37	chr9	130354885	.	G	A	3119.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.213;DP=838;ExcessHet=0.119;FS=0.47;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.853;SOR=0.655	GT:AD:DP:GQ:PL	0/1:56,78:134:99:1930,0,1248	17	0	2	0
chr9	131072789	131072789	C	T	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.C3371T:p.S1124F	Cortical malformations, occipital, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	134907	LAMC3-related_disorder|not_specified|Occipital_pachygyria_and_polymicrogyria|not_provided	.|MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0095	0.00319489	0.0085	0.0022	0.0054	0	0.0114	0.0127	0.0081	0.0007	0.0073738	1140	154602	rs113259170	0.0094	0.0094	0.0094	0.0094	0.0106	0.0093	0.0092	0.0105	0.0104	0.0013	0.0057	0.0197	0	0.0068	0.0076	0.0106	0.0109	0.0008	0.0072	0.0072	0.0077	0.0067	0.0117	0.0069	0.0067	0.0111	0.0108	0.0016	0	0.0044	0.0202	0	0.0062	0.0068	0.0117	0.0114	0.0010	0.027	0.46513	D	0.056	0.46632	T	0.982	0.60036	D	0.839	0.60107	P	0.020825	0.26957	N	0.420127	0.722312	0.29910	N	2.25	0.63811	M	1.58	0.29085	T	-2.75	0.58407	D	0.601	0.61933	-0.8363	0.52891	T	0.119	0.41626	T	10	0.006035298	0.00136	T	.	.	.	0.085	0.24743	.	.	0.653879434346	0.65099	0.3203706677737109	0.31950	0.482670863814	0.47229	0.379210293293	0.22145	T	0.191222	0.54600	T	-0.516265	0.00462	T	-0.504961	0.21835	T	0.0296032382735943	0.01929	T	0.739426	0.35812	T	0.1953124	0.41315	0.21479674	0.46044	0.1953124	0.41315	0.21479674	0.46043	-6.779	0.52403	T	.	.	0.163	0.36012	B	.	.	4.388584	0.67704	25.1	0.99859115873559101	0.93729	0.77499	0.38111	D	AEFDGBCI	0.360704	0.45058	N	0.539469572555752	0.69442	5.357637	0.501496547831221	0.68092	5.172491	0.999999999547305	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.97	0.65419	2.975000	0.48972	7.603000	0.61629	0.599000	0.40250	0.967000	0.34061	1.000000	0.68203	0.276000	0.23917	0.0:1.0:0.0:0.0	15.361	0.74187	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.005102	0.009511	0.002924	0.000000	0.008621	0.009146	0.011364	0.05263	2163.83	36	chr9	131072789	.	C	T	2163.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.343;DP=829;ExcessHet=0.119;FS=2.118;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.843;SOR=0.935	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1056,0,824	17	0	2	0
chr9	132888505	132888505	C	A	exonic	SPACA9	.	nonsynonymous SNV	SPACA9:NM_001316897:exon4:c.C563A:p.T188N,SPACA9:NM_001316898:exon4:c.C563A:p.T188N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.117314325715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327008035	2.776e-06	2.736e-06	1.378e-06	4.193e-06	0.0002	6.5e-07	4.4e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.721e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.034	0.44029	D	0.189	0.28575	T	0.911	0.50336	P	0.61	0.51087	P	0.000781	0.41888	D	0.154834	1	0.81001	D	.	.	.	0.85	0.47130	T	-0.86	0.23372	N	0.035	0.01004	-0.8664	0.50798	T	0.162	0.49781	T	9	0.14817384	0.28065	T	0.117314	0.79705	D	0.062	0.17934	0.122	0.02867	0.364926071151	0.36103	0.15624071746208207	0.15545	.	.	.	.	.	0.023013	0.17639	T	-0.259313	0.12980	T	-0.610262	0.11964	T	0.406329482793808	0.29180	T	0.354964	0.08031	T	0.103296936	0.24415	0.117685325	0.28409	0.103296936	0.24415	0.117685325	0.28408	-3.954	0.23113	T	.	.	0.091	0.12985	B	.;.	.;.	1.186895	0.15778	12.10	0.98558210564408433	0.42935	0.45028	0.27448	N	AEFDGBCIJ	0.099165	0.19968	N	0.0427893278125286	0.43811	2.66684	-0.0346728285868391	0.38159	2.244329	0.999999975734668	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.6	4.6	0.56512	0.716000	0.25508	1.331000	0.25669	0.597000	0.34315	0.097000	0.22731	0.019000	0.20708	0.052000	0.15357	0.0:0.9037:0.0:0.0963	9.790	0.39869	791	0.46100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1631.33	36	chr9	132888505	.	C	A	1631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.9;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.11;SOR=0.74	GT:AD:DP:GQ:PL	0/1:82,66:148:99:1645,0,2403	18	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	572.82	69	chr9	138023729	.	A	*	572.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.352;DP=868;ExcessHet=2.0135;FS=4.594;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=-1.176;SOR=0.925	GT:AD:DP:GQ:PL	0/1:39,30:69:99:1116,0,1485	14	0	5	0
chr10	47460	47460	A	C	exonic	TUBB8	.	nonsynonymous SNV	TUBB8:NM_177987:exon4:c.T932G:p.L311R	Oocyte maturation defect 2, Autosomal recessive, Autosomal dominant	13	1501	8	0	0	8	0.00265781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	.	.	.	0.0024	0.0001	0	0.0001	0	0	0	0.0170	3.84e-05	1	26028	rs368079015	5.628e-05	0.0010	3.275e-05	8.01e-05	0.0010	4.625e-05	4.25e-05	0.0008	0.0007	0	0	0	0	0	0.0002	0	1.663e-05	0.0010	5.254e-05	0.0002	3.855e-05	6.718e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.983	0.75793	D	0.000150	0.49130	U	0.000000	0.936119	0.81001	D	.	.	.	-2.65	0.90210	D	-4.53	0.78388	D	0.797	0.80572	0.633	0.92322	D	0.894	0.96472	D	9	0.07026917	0.10200	T	.	.	.	.	.	0.76	0.88892	0.885216199105	0.88409	0.9745826639807273	0.97448	.	.	0.763700723648	0.76481	T	0.75176	0.93203	D	0.302781	0.83191	D	0.197148	0.82972	D	0.585812032222748	0.35842	D	0.845515	0.52437	T	0.95823085	0.97102	0.7502274	0.85236	0.95823085	0.97102	0.7502274	0.85237	-13.364	0.90807	D	0.937372912338633	0.97552	0.960	0.89526	P	.;.;.	.;.;.	2.418890	0.31099	18.64	0.80361286872955306	0.13167	0.88853	0.48984	D	AEFBI	0.461034	0.51097	N	0.174478432582378	0.49977	3.192222	-0.221296756965285	0.30773	1.73563	6.98859253090987E-4	0.07645	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	6.580000	0.73930	11.052000	0.85313	0.300000	0.18932	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.9994:0.0:6.0E-4:0.0	4.549	0.11498	.	.	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain;Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain;Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001594	0.000000	0.001359	0.008197	0.000000	0.000000	0.000000	0.003817	0.02632	142.33	36	chr10	47460	.	A	C	142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.759;DP=948;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.35;MQRankSum=-6.652;QD=1.17;ReadPosRankSum=0.682;SOR=0.884	GT:AD:DP:GQ:PL	0/1:104,18:122:99:156,0,3137	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	0/1:104,27:131:34:34,0,1900	2	0	17	0
chr10	5499368	5499368	C	T	exonic	CALML5	.	nonsynonymous SNV	CALML5:NM_017422:exon1:c.G71A:p.G24E	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0445709014713	.	.	3.295e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs778701515	2.189e-05	2.189e-05	9.529e-06	3.438e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0002	0	0	0	0	0	0	8.993e-07	6.624e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.044	0.49663	D	0.037	0.20876	B	0.044	0.24394	B	0.585670	0.05562	N	1.245670	1	0.08975	N	2.745	0.80253	M	-0.83	0.74159	T	-4.42	0.77470	D	0.145	0.14622	-0.7065	0.60125	T	0.320	0.68925	T	10	0.24169782	0.41352	T	0.044571	0.61557	D	0.192	0.47115	0.75	0.88071	0.558904749205	0.55551	0.7901136118605844	0.78963	0.707574889202	0.61497	0.337554901838	0.16071	T	0.315979	0.68755	T	-0.328274	0.06242	T	-0.417171	0.31400	T	0.815112829208374	0.47414	D	0.549145	0.18877	T	0.45973465	0.64654	0.46438727	0.68912	0.45973465	0.64655	0.46438727	0.68912	-9.726	0.72255	D	.	.	0.379	0.58363	A	.	.	1.203941	0.15965	12.22	0.76044116947005824	0.11311	0.11108	0.16413	N	AEFDBI	0.077064	0.15519	N	-1.14789165494389	0.05814	0.2660579	-1.28831026643129	0.04588	0.21675	0.998288137559817	0.36695	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.49	-4.2	0.03562	1.187000	0.31699	-0.282000	0.10261	-0.817000	0.03001	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.0:0.3082:0.2523:0.4394	5.510	0.16167	794	0.45591	EF-hand domain|EF-Hand 1, calcium-binding site|EF-hand domain|EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1490.33	39	chr10	5499368	.	C	T	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.685;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.865;SOR=0.706	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1504,0,1341	18	0	1	0
chr10	12112930	12112930	G	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon13:c.G2185A:p.G729R	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	8	1502	12	0	0	12	0.00397878	.	.	YES	48163	DHTKD1-related_disorder|2-aminoadipic_2-oxoadipic_aciduria|Inborn_disorder_of_lysine_and_hydroxylysine_metabolism|Tip-toe_gait|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_2A2|not_specified|not_provided	.|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154|MONDO:MONDO:0017351,MedGen:C0268552,Orphanet:289832|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012231,MedGen:C4721887,OMIM:609260,Orphanet:99947|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	0.376554540521	0.0018	0.000798722	0.0016	0.0006	0.0005	0.0002	0	0.0023	0	0.0014	0.0017529	271	154602	rs117225135	0.0027	0.0027	0.0028	0.0027	0.0033	0.0027	0.0026	0.0031	0.0031	0.0006	0.0005	0.0023	5.073e-05	9.368e-05	0.0033	0.0032	0.0026	0.0017	0.0019	0.0019	0.0021	0.0016	0.0034	0.0017	0.0016	0.0031	0.0029	0.0004	0	0.0009	0.0026	0.0002	0	0.0102	0.0034	0.0014	0.0008	0.006	0.61437	D	0.074	0.42976	T	0.978	0.58756	D	0.854	0.60866	P	0.000017	0.62929	D	0.120088	1	0.81001	D	2.215	0.62545	M	3.56	0.04696	T	-6.02	0.89684	D	0.824	0.81957	-1.1790	0.00384	T	0.039	0.16849	T	10	0.11351588	0.21328	T	0.376555	0.92872	D	0.235	0.53788	0.623	0.75803	0.393775345888	0.38992	0.7752925635615178	0.77479	0.195710018587	0.21922	0.60519015789	0.53637	T	0.296412	0.66905	T	-0.270306	0.11723	T	-0.162208	0.58153	T	0.0411741596724569	0.03903	T	0.973103	0.90315	D	0.7630603	0.81634	0.4724242	0.69415	0.7630603	0.81635	0.4724242	0.69416	-9.709	0.72151	D	.	.	0.224	0.45605	B	.	.	3.952037	0.57900	23.9	0.99918533384707586	0.98586	0.89111	0.49383	D	ALL	0.743112	0.68652	D	0.516671722209486	0.68076	5.167586	0.467964759947418	0.65880	4.879851	0.999999999994152	0.74766	0.706548	0.73137	0	0.648423	0.57943	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	4.34	0.51267	3.913000	0.56106	6.416000	0.55605	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.258000	0.23468	0.0799:0.0:0.9201:0.0	12.869	0.57342	808	0.43318	Transketolase-like, pyrimidine-binding domain|Transketolase-like, pyrimidine-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	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1427.33	34	chr10	12112930	.	G	A	1427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.1;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.368;SOR=0.648	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1441,0,1363	18	0	1	0
chr10	13283784	13283784	C	T	exonic	PHYH	.	nonsynonymous SNV	PHYH:NM_001323083:exon5:c.G470A:p.R157Q,PHYH:NM_001037537:exon6:c.G434A:p.R145Q,PHYH:NM_001323084:exon6:c.G440A:p.R147Q,PHYH:NM_001323080:exon7:c.G434A:p.R145Q,PHYH:NM_001323082:exon7:c.G740A:p.R247Q,PHYH:NM_006214:exon7:c.G734A:p.R245Q	Refsum disease, Autosomal recessive	0	1465	55	2	0	59	0.019739	.	.	YES	195700	Vitamin_D-dependent_rickets_type_II_with_alopecia|not_provided|Nonsyndromic_cleft_lip_palate|Retinal_dystrophy|Phytanic_acid_storage_disease|not_specified	MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|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:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	.	0.0045	0.00539137	0.0078	0.0012	0.0021	0.0002	0.0248	0.0079	0.0121	0.0127	0.0070374	1088	154602	rs62619919	0.0073	0.0073	0.0070	0.0076	0.0131	0.0072	0.0071	0.0125	0.0122	0.0011	0.0020	0.0020	7.557e-05	0.0242	0.0090	0.0068	0.0067	0.0131	0.0069	0.0070	0.0060	0.0079	0.0125	0.0066	0.0065	0.0099	0.0090	0.0011	0.0220	0.0016	0.0029	0	0.0299	0.0102	0.0083	0.0057	0.0125	0.061	0.41364	T	0.168	0.47581	T	0.948	0.53620	P	0.393	0.44248	B	0.000001	0.62929	D	0.095783	0.999999	0.58761	D	2.14	0.59869	M	-2.57	0.89692	D	-3.21	0.64826	D	0.746	0.83066	-0.0996	0.80107	T	0.487	0.80456	T	10	0.0109907985	0.00242	T	.	.	.	0.709	0.89605	.	.	0.819945016332	0.81825	0.7508317222829632	0.75030	0.422443036558	0.42745	0.316044032574	0.12821	T	0.851272	0.96618	D	0.0250171	0.55056	T	0.27419	0.86805	D	0.0586197129615423	0.06950	T	0.847515	0.53448	T	0.76901144	0.81988	0.5183276	0.72170	0.70621306	0.78400	0.5136754	0.71899	-5.679	0.46414	T	0.5775603130396747	0.64448	0.128	0.28693	B	.;.;.;.	.;.;.;.	2.910204	0.38601	20.8	0.99870173341436463	0.94815	0.82671	0.41867	D	AEFBCI	0.538925	0.55611	D	-0.0498178549336814	0.39610	2.338688	-0.0804250776182471	0.36199	2.10369	0.999955430836531	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	4.85	0.62375	3.386000	0.52232	0.015000	0.13501	0.541000	0.25215	0.995000	0.38783	0.000000	0.08366	0.076000	0.17014	0.0:0.8455:0.0:0.1545	11.581	0.50145	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	0.007553	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.02632	1468.33	34	chr10	13283784	.	C	T	1468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=711;ExcessHet=0;FS=2.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.798;SOR=0.468	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1482,0,1034	18	0	1	0
chr10	16484400	16484400	G	T	exonic	PTER	.	stopgain	PTER:NM_001261836:exon2:c.G16T:p.G6X,PTER:NM_001001484:exon3:c.G16T:p.G6X,PTER:NM_001261837:exon3:c.G16T:p.G6X,PTER:NM_030664:exon3:c.G16T:p.G6X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002762605	8.368e-06	8.209e-06	9.7e-06	7.019e-06	9.969e-06	4.46e-06	3.53e-06	5.35e-06	3.91e-06	0	0	0	0	0	0	9.969e-06	1.691e-05	0	6.577e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.086330	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.756	0.75466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive	High;High;High	8.949079	0.98249	39	0.99279160162830615	0.57834	0.99595	0.97811	D	AEFBI	0.277160	0.39174	N	1.00924945985046	0.96023	14.21564	0.830115440692084	0.91802	11.07604	0.999960749106818	0.48965	0.706298	0.61202	0	0.644132	0.57912	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	6.08	5.18	0.71140	7.774000	0.84234	8.554000	0.77540	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0671:0.0:0.9329:0.0	15.151	0.72377	900	0.24599	.;.;.	.	.	.	.	.	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	1140.33	34	chr10	16484400	.	G	T	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.752;DP=701;ExcessHet=0;FS=2.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-2.072;SOR=0.407	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1154,0,929	18	0	1	0
chr10	19146225	19146225	C	G	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon11:c.C1439G:p.S480W	.	558	962	2	0	0	2	0.00103842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0078377	204	26028	rs150497176	0.0109	0.0081	0.0111	0.0106	0.0121	0.0107	0.0106	0.0119	0.0119	0.0014	0.0049	0	7.541e-05	0.0018	0.0024	0.0121	0.0090	0.0033	0.0059	0.0059	0.0065	0.0054	0.0100	0.0056	0.0055	0.0094	0.0091	0.0017	0.0713	0.0033	0	0	0.0008	0	0.0100	0.0090	0.0015	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.51226	.	.	.	.	.	.	.	0.008595616	0.00195	T	.	.	.	.	.	.	.	0.50055108712	0.49690	0.18437531268855128	0.18356	.	.	.	.	.	.	.	.	-0.448168	0.01158	T	-0.404863	0.32820	T	.	.	.	0.670533	0.27914	T	0.30839565	0.53647	0.41923356	0.65923	0.30839565	0.53647	0.41923356	0.65923	-7.163	0.55215	T	.	.	0.199	0.42244	B	.	.	3.649495	0.51790	23.1	0.46240814081258413	0.03689	0.92717	0.56374	D	AEFI	.	.	.	.	.	.	.	.	.	3.44791246914266E-4	0.06626	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.715379	0.43294	5.33	4.4	0.52402	2.858000	0.48055	3.649000	0.39371	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1564:0.8436:0.0:0.0	13.498	0.60893	888	0.27761	MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	36	chr10	19146225	.	C	G	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.637;DP=719;ExcessHet=0;FS=3.164;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.72;SOR=0.378	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1017,0,834	18	0	1	0
chr10	20819467	20819467	G	A	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon20:c.C2012T:p.P671L	.	.	.	.	.	.	.	.	.	.	.	397756	Primary_dilated_cardiomyopathy|not_specified	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.461	0.0927833742269	.	.	0.0001	0	0.0005	0	0	1.498e-05	0	0.0005	9.7e-05	15	154602	rs770107953	3.489e-05	3.489e-05	2.042e-05	4.95e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0002	5.974e-05	0.0001	0	2.519e-05	0	0.0002	1.079e-05	1.656e-05	0.0003	3.946e-05	3.941e-05	2.571e-05	5.386e-05	0.0002	1.717e-05	1.13e-05	1.922e-05	1.033e-05	7.249e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	0.998	0.73220	D	0.955	0.69585	D	0.000360	0.45440	D	0.151845	1	0.81001	D	3.34	0.90961	M	-0.21	0.66294	T	-7.26	0.94377	D	0.462	0.49874	0.095	0.84077	D	0.545	0.83284	D	10	0.5553013	0.64484	D	0.092783	0.75953	D	0.461	0.75822	0.402	0.43245	0.871828735133	0.87058	0.536467654745734	0.53571	0.124038947676	0.13968	0.543733000755	0.44973	T	0.041168	0.25768	T	0.138697	0.68202	D	0.266	0.86373	D	0.877516150474548	0.52742	D	0.844815	0.52285	T	0.55417025	0.70187	0.6362743	0.78763	0.55417025	0.70189	0.6362743	0.78764	-7.169	0.55259	T	.	.	0.311	0.53808	B	.	.	4.530267	0.71108	25.6	0.99910784407202091	0.98022	0.98826	0.87362	D	AEFBI	0.809110	0.73270	D	0.725271050414359	0.81291	7.48741	0.62703425968147	0.76908	6.578873	0.999999991552347	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	7.125000	0.76809	7.579000	0.60911	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.0:1.0:0.0	18.663	0.91435	908	0.22609	.	.	.	.	.	.	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	984.33	40	chr10	20819467	.	G	A	984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.429;DP=727;ExcessHet=0;FS=1.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.581;SOR=0.895	GT:AD:DP:GQ:PL	0/1:18,40:58:99:998,0,347	18	0	1	0
chr10	21516791	21516791	-	TGG	exonic	SKIDA1	.	nonframeshift insertion	SKIDA1:NM_207371:exon4:c.1031_1032insCCA:p.H351_R352insH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0010	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs749932127	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0005	0.0004	8.286e-05	2.888e-05	7.223e-05	0.0005	0.0002	0.0002	0.0001	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0005	0	0.0005	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	879.29	35	chr10	21516791	.	A	ATGG	879.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.744;DP=756;ExcessHet=0;FS=4.301;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=1.25;SOR=0.278	GT:AD:DP:GQ:PL	0/1:24,23:47:99:893,0,880	18	0	1	0
chr10	29532101	29532101	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon9:c.G1910A:p.R637Q,SVIL:NM_001323599:exon10:c.G980A:p.R327Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	2388521	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.0203691002389	0.0002	0.000199681	8.237e-05	0.0002	0	0.0003	0	2.997e-05	0	0.0002	9.7e-05	15	154602	rs202239155	4.652e-05	4.652e-05	3.676e-05	5.638e-05	0.0003	3.728e-05	3.412e-05	0.0002	0.0002	5.975e-05	2.236e-05	0	0.0002	0	0	2.518e-05	4.969e-05	0.0003	9.193e-05	9.186e-05	8.993e-05	9.402e-05	0.0006	5.524e-05	4.362e-05	0.0002	8.378e-05	0.0002	0	0	0	0.0006	0	0	5.88e-05	0	0	0.007	0.59928	D	0.271	0.22291	T	0.509	0.37289	P	0.051	0.25434	B	0.005494	0.32753	N	0.244558	0.997313	0.81001	D	1.485	0.37223	L	1.0	0.41392	T	-1.1	0.28497	N	0.301	0.34012	-0.9988	0.30255	T	0.106	0.38611	T	9	0.07679802	0.12041	T	0.020369	0.42951	T	0.054	0.15330	.	.	0.368770208536	0.36493	0.32640377174312074	0.32553	0.336749737354	0.35668	0.408451676369	0.26243	T	0.023819	0.18113	T	-0.308139	0.07912	T	-0.350396	0.39159	T	0.0400673921110766	0.03702	T	0.884412	0.60756	D	0.18157452	0.39334	0.115541	0.27891	0.18157452	0.39333	0.115541	0.27890	-5.473	0.44505	T	.	.	0.132	0.29751	B	.;.	.;.	4.453267	0.69239	25.3	0.99900370659265669	0.97199	0.96837	0.71207	D	AEFBI	0.527064	0.54916	D	0.154154550877619	0.49010	3.106193	0.238976424687645	0.52023	3.380254	0.993716114700385	0.33326	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.41	4.51	0.54589	4.124000	0.57676	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9277:0.0:0.0723	14.124	0.64742	969	0.06854	.;.	.	.	.	.	.	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	1085.33	33	chr10	29532101	.	C	T	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=730;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-1.186;SOR=0.897	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1099,0,1182	18	0	1	0
chr10	45828081	45828081	C	G	splicing	AGAP4	NM_001291379:exon9:c.210-1G>C;NM_001276343:exon7:c.534-1G>C;NM_133446:exon6:c.465-1G>C	.	.	.	705	795	11	11	0	33	0.0203327	1.0000	0.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259220018	0.0090	0.0077	0.0082	0.0097	0.0262	0.0088	0.0087	0.0205	0.0186	0.0012	0.0068	0.0048	9.438e-05	0.0119	0.0262	0.0086	0.0075	0.0201	0.0062	0.0065	0.0062	0.0061	0.0121	0.0058	0.0057	0.0095	0.0086	0.0011	0.0146	0.0075	0.0042	0.0004	0.0112	0.0360	0.0081	0.0073	0.0121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0721765	0.40978	T	-0.341453	0.40179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.993006	0.94285	34	0.85737994814547802	0.16081	0.86269	0.45516	D	AEFI	.	.	.	0.551673247133502	0.70185	5.464414	0.239839142706968	0.52072	3.384739	4.27802207330989E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.063197	0.01477	0	0.101684	0.03063	0	0.185915	0.29733	1.68	1.68	0.23219	3.803000	0.55264	5.199000	0.47926	0.270000	0.18506	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:1.0:0.0:0.0	6.854	0.23214	751	0.51694	.;.;.;.	.	.	.	.	.	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	458.33	29	chr10	45828081	.	C	G	458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.493;DP=609;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.99;MQRankSum=-0.275;QD=9.35;ReadPosRankSum=-1.082;SOR=0.4	GT:AD:DP:GQ:PL	0/1:26,23:49:99:472,0,609	18	0	1	0
chr10	46550577	46550577	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G160A:p.E54K,GPRIN2:NM_001385276:exon3:c.G160A:p.E54K,GPRIN2:NM_001385282:exon3:c.G160A:p.E54K,GPRIN2:NM_014696:exon3:c.G160A:p.E54K,GPRIN2:NM_001385277:exon4:c.G160A:p.E54K,GPRIN2:NM_001385278:exon4:c.G160A:p.E54K,GPRIN2:NM_001385279:exon4:c.G160A:p.E54K,GPRIN2:NM_001385280:exon4:c.G160A:p.E54K,GPRIN2:NM_001385281:exon4:c.G160A:p.E54K,GPRIN2:NM_001385283:exon4:c.G160A:p.E54K,GPRIN2:NM_001385287:exon4:c.G232A:p.E78K,GPRIN2:NM_001385289:exon4:c.G232A:p.E78K,GPRIN2:NM_001385300:exon4:c.G232A:p.E78K,GPRIN2:NM_001385291:exon5:c.G232A:p.E78K,GPRIN2:NM_001385293:exon5:c.G232A:p.E78K,GPRIN2:NM_001385294:exon5:c.G232A:p.E78K,GPRIN2:NM_001385295:exon5:c.G232A:p.E78K,GPRIN2:NM_001385296:exon5:c.G232A:p.E78K,GPRIN2:NM_001385301:exon5:c.G232A:p.E78K,GPRIN2:NM_001385297:exon6:c.G232A:p.E78K,GPRIN2:NM_001385298:exon6:c.G232A:p.E78K,GPRIN2:NM_001385299:exon6:c.G232A:p.E78K	.	396	1120	6	0	0	6	0.00267142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201812106	0.0005	0.0008	0.0005	0.0005	0.0008	0.0005	0.0005	0.0007	0.0006	0.0002	0.0001	0	0	7.79e-05	0.0005	0.0006	0.0005	0.0008	0.0003	0.0005	0.0003	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	9.614e-05	0	6.53e-05	0	0	0	0	0.0006	0	0.0004	0.0	0.91255	D	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.76	0.03892	T	-0.24	0.10833	N	0.316	0.35832	.	.	.	.	.	.	.	0.10135731	0.18515	T	.	.	.	.	.	.	.	.	.	0.5921985630035705	0.59149	.	.	.	.	.	0.006419	0.05852	T	.	.	.	.	.	.	.	.	.	0.579442	0.20917	T	.	.	.	.	.	.	.	.	-3.866	0.21794	T	.	.	0.082	0.08899	B	.;.	.;.	1.782418	0.22660	15.71	.	.	.	.	.	.	0.092904	0.18803	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.130000	0.10477	-0.334000	0.09867	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	.	.	.	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	551.33	98	chr10	46550577	.	C	T	551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.757;DP=1971;ExcessHet=0;FS=0.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=-1.404;SOR=0.588	GT:AD:DP:GQ:PL	0/1:70,28:98:99:565,0,2415	18	0	1	0
chr10	50097803	50097803	G	A	splicing	WASHC2A	NM_001291398:exon16:c.1548+1G>A;NM_001330102:exon16:c.1548+1G>A;NM_001005751:exon16:c.1548+1G>A	.	.	.	0	225	1	0	0	1	0.00221729	1.0000	0.676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	0	.	.	0	.	.	.	.	.	rs1321790280	0.0009	0.0009	0.0009	0.0010	0.0023	0.0009	0.0009	0.0020	0.0019	0.0008	0.0002	0.0020	0	0.0047	0.0005	0.0007	0.0008	0.0023	0.0012	0.0012	0.0010	0.0013	0.0015	0.0010	0.0010	0.0009	0.0008	0.0011	0	0.0003	0.0014	0	0.0051	0	0.0008	0.0014	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147861	0.69067	D	-0.0253843	0.68674	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.581589	0.92305	32	0.98692127534514851	0.44780	0.84680	0.43765	D	AEFI	.	.	.	0.778874635708469	0.84767	8.380836	0.542924265117102	0.70905	5.574707	1.32507074981889E-4	0.05486	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.670919	0.42199	3.35	3.35	0.37468	4.919000	0.63082	9.141000	0.78911	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.486000	0.28701	0.0:0.0:1.0:0.0	10.967	0.46634	737	0.53483	.;.;.;.;.	.	.	.	.	.	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	1225.33	34	chr10	50097803	.	G	A	1225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.886;DP=762;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.29;MQRankSum=-1.326;QD=9.72;ReadPosRankSum=-1.233;SOR=0.801	GT:AD:DP:GQ:PL	0/1:73,53:126:99:1239,0,1987	18	0	1	0
chr10	68210454	68210454	A	C	exonic	MYPN	.	stoploss	MYPN:NM_032578:exon20:c.A3962C:p.X1321S,MYPN:NM_001256267:exon21:c.A3962C:p.X1321S,MYPN:NM_001256268:exon24:c.A3080C:p.X1027S	Cardiomyopathy, dilated, 1KK, Autosomal dominant;Cardiomyopathy, familial restrictive, 4, Autosomal dominant;Cardiomyopathy, hypertrophic, 22, Autosomal dominant;Nemaline myopathy 11, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.103228	0.35891	T	-0.386056	0.35012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	1.209421	0.16023	12.26	0.7840277042299737	0.12285	0.97469	0.74950	D	AEFDBI	.	.	.	0.655956795770014	0.76756	6.545332	0.484648360778992	0.66972	5.02221	0.551124795103293	0.21335	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.288269	0.34340	6.16	3.83	0.43287	2.960000	0.48853	4.126000	0.42002	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.7736:0.0:0.2264:0.0	8.588	0.32827	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	.	.	.	.	.	.	.	.	0.02941	34.44	52	chr10	68210454	.	A	C	34.44	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.378;DP=941;ExcessHet=0;FS=188.446;InbreedingCoeff=-0.0701;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.6;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,7:52:47:0|1:68210454_A_C:47,0,1429:68210454	16	0	1	2
chr10	72062897	72062897	C	T	exonic	SPOCK2	.	nonsynonymous SNV	SPOCK2:NM_001244950:exon11:c.G1138A:p.V380M,SPOCK2:NM_014767:exon12:c.G1138A:p.V380M	.	351	1164	7	0	0	7	0.00299786	.	.	.	2344658	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0238238379987	.	0.000199681	0.0002	0	0.0002	0	0.0004	0.0003	0	0	0.0001164	18	154602	rs200859576	8.021e-05	8.619e-05	8.521e-05	7.516e-05	0.0040	6.807e-05	6.335e-05	0.0027	0.0023	3.009e-05	9.268e-05	0	2.54e-05	4.196e-05	0.0040	6.506e-05	6.673e-05	0.0001	0.0001	0.0001	5.143e-05	0.0002	0.0004	6.514e-05	5.325e-05	7.35e-05	5.092e-05	0	0	6.54e-05	0	0	0.0002	0	0.0001	0.0009	0.0004	0.15	0.24661	T	0.257	0.23298	T	0.27	0.31762	B	0.015	0.17295	B	0.000067	0.52346	D	0.127574	0.986777	0.40484	D	0.6	0.15550	N	0.56	0.54540	T	0.15	0.05310	N	0.066	0.05929	-1.0449	0.15854	T	0.089	0.34325	T	10	0.044466943	0.03407	T	0.023824	0.46806	T	0.030	0.07022	.	.	0.179529687257	0.17594	0.4521624283599802	0.45134	0.282254302918	0.30686	0.63472622633	0.57815	T	0.084519	0.37297	T	-0.415422	0.01831	T	-0.574823	0.15009	T	0.0437120956634453	0.04368	T	0.69823	0.33404	T	0.06998419	0.15376	0.086909845	0.20166	0.06998419	0.15376	0.086909845	0.20166	-5.866	0.45144	T	.	.	0.09	0.14523	B	.;.;.	.;.;.	3.207953	0.43659	21.8	0.98861685540705158	0.47476	0.82684	0.41878	D	AEFDBI	0.142132	0.26449	N	-0.183827528970854	0.33807	1.922293	-0.0324322292921824	0.38260	2.251528	0.999925761392299	0.46280	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	5.31	4.4	0.52402	1.463000	0.34887	4.928000	0.46104	0.599000	0.40250	0.691000	0.28541	1.000000	0.68203	0.867000	0.41218	0.0:0.7884:0.1366:0.075	10.429	0.43581	846	0.36215	Thyroglobulin type-1;Thyroglobulin type-1;Thyroglobulin type-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	0.002528	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1325.33	36	chr10	72062897	.	C	T	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.612;DP=813;ExcessHet=0;FS=3.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=1.63;SOR=0.894	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1339,0,1454	18	0	1	0
chr10	73498685	73498685	C	T	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon22:c.G4813A:p.D1605N,USP54:NM_001350995:exon22:c.G4708A:p.D1570N,USP54:NM_001378208:exon22:c.G4828A:p.D1610N,USP54:NM_001378209:exon22:c.G4828A:p.D1610N,USP54:NM_001378210:exon22:c.G4828A:p.D1610N,USP54:NM_152586:exon23:c.G4999A:p.D1667N	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0019	0.00758786	0.0063	0.0008	0.0020	0.0001	0.0003	0.0034	0.0036	0.0406	0.0057373	887	154602	rs117429793	0.0048	0.0048	0.0039	0.0056	0.0300	0.0047	0.0047	0.0290	0.0286	0.0004	0.0015	0.0091	5.054e-05	0.0002	0.0158	0.0034	0.0047	0.0300	0.0030	0.0030	0.0028	0.0033	0.0276	0.0028	0.0027	0.0238	0.0223	0.0007	0	0.0009	0.0075	0.0002	0.0003	0.0136	0.0036	0.0033	0.0276	0.217	0.19157	T	0.255	0.23365	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.997265	0.22728	N	1.59	0.40313	L	1.84	0.24656	T	-0.75	0.21003	N	0.081	0.15187	-1.0720	0.08979	T	0.032	0.13942	T	9	0.0031874776	0.00054	T	.	.	.	0.027	0.05988	.	.	0.244539031024	0.24083	0.12739062059800277	0.12665	0.161090804594	0.18180	0.343045890331	0.16894	T	0.001299	0.00775	T	-0.670526	0.00055	T	-0.712943	0.05145	T	0.00310305658237884	0.00033	T	0.735226	0.35154	T	0.02198605	0.00832	0.03208178	0.01889	0.02198605	0.00832	0.03208178	0.01888	-4.636	0.32621	T	.	.	0.092	0.21239	B	.;.	.;.	1.589521	0.20330	14.70	0.97309251252999618	0.33318	0.81022	0.40516	D	AEFDBI	0.156473	0.28183	N	-0.674840038345254	0.16740	0.8555635	-0.57157403984812	0.20236	1.089	0.992873459407796	0.33000	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.09	3.16	0.35406	1.751000	0.37967	4.075000	0.41695	0.577000	0.29297	0.878000	0.30948	1.000000	0.68203	0.007000	0.07825	0.0:0.7532:0.1602:0.0866	8.064	0.29812	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.026515	0.02632	1022.33	35	chr10	73498685	.	C	T	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.698;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=2.4;SOR=0.696	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1036,0,1296	18	0	1	0
chr10	84425809	84425809	C	T	exonic	CCSER2	.	nonsynonymous SNV	CCSER2:NM_001284242:exon2:c.C65T:p.P22L,CCSER2:NM_001284243:exon2:c.C65T:p.P22L,CCSER2:NM_001284240:exon5:c.C1784T:p.P595L,CCSER2:NM_001351290:exon5:c.C1784T:p.P595L,CCSER2:NM_001351292:exon5:c.C1784T:p.P595L,CCSER2:NM_018999:exon5:c.C1784T:p.P595L	.	429	1074	19	0	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	7.7e-05	0.0081869	0.0039	0	0	0	0	6.001e-05	0.0022	0.0284	0.003454	534	154602	rs368729802	0.0017	0.0017	0.0009	0.0024	0.0270	0.0016	0.0016	0.0261	0.0257	0	0	0	5.04e-05	0	0.0012	1.169e-05	0.0018	0.0270	0.0010	0.0010	0.0005	0.0015	0.0309	0.0009	0.0008	0.0269	0.0253	4.816e-05	0	0	0	0	0	0	1.47e-05	0	0.0309	0.028	0.46129	D	0.218	0.31936	T	0.649	0.40609	P	0.295	0.40843	B	0.089383	0.20430	N	0.508951	0.999991	0.58761	D	1.39	0.34934	L	2.27	0.22067	T	-1.57	0.46842	N	0.468	0.55626	-1.1337	0.01613	T	0.051	0.21844	T	10	0.0031134784	0.00052	T	.	.	.	0.125	0.34456	.	.	0.21737058555	0.21362	0.09618620014000735	0.09550	0.277704376549	0.30248	0.365793049335	0.20226	T	0.003654	0.03060	T	-0.43494	0.01385	T	-0.377265	0.36041	T	0.0253532049821524	0.01319	T	0.940906	0.80969	D	0.08812835	0.20549	0.09275834	0.21876	0.08812835	0.20548	0.09275834	0.21875	-4.939	0.45247	T	.	.	0.086	0.21913	B	.;.;.;.;.	.;.;.;.;.	3.819130	0.55138	23.6	0.99767261433712595	0.85583	0.73992	0.36191	D	AEFDBI	0.321717	0.42443	N	0.112789645086986	0.47058	2.936959	0.270157606195535	0.53806	3.547696	0.999999999798317	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631177	0.49321	0	.	.	6.07	6.07	0.98675	2.734000	0.47041	5.941000	0.51480	0.599000	0.40250	0.842000	0.30316	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.138	0.89555	967	0.07127	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1026.33	34	chr10	84425809	.	C	T	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.587;DP=743;ExcessHet=0;FS=0.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.153;SOR=0.795	GT:AD:DP:GQ:PL	0/1:63,45:108:99:1040,0,1580	18	0	1	0
chr10	89215019	89215019	T	C	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon8:c.A661G:p.T221A,LIPA:NM_000235:exon10:c.A1009G:p.T337A,LIPA:NM_001127605:exon10:c.A1009G:p.T337A	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323828	Cardiovascular_phenotype|Lysosomal_acid_lipase_deficiency|not_specified|Wolman_disease	MedGen:CN230736|MONDO:MONDO:0800449,MedGen:C5574740,OMIM:PS278000,Orphanet:275761|MedGen:CN169374|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151,Orphanet:75233	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.537	0.0572465132153	.	0.00219649	0.0007	0	0	0.0094	0	0	0.0011	0.0001	0.0006533	101	154602	rs143793106	0.0004	0.0004	0.0004	0.0004	0.0130	0.0003	0.0003	0.0121	0.0117	0	0	0	0.0130	0	0	1.799e-06	0.0002	3.478e-05	0.0003	0.0003	0.0003	0.0003	0.0095	0.0003	0.0002	0.0073	0.0066	0	0	6.537e-05	0	0.0095	0	0	0	0	0	0.01	0.58626	D	0.021	0.61642	D	0.994	0.66517	D	0.973	0.72923	D	0.000001	0.84330	D	0.096626	0.999981	0.81001	D	3.48	0.92553	M	-0.71	0.72889	T	-3.73	0.70920	D	0.593	0.61256	0.166	0.85324	D	0.507	0.81459	D	10	0.014250368	0.00300	T	0.057247	0.66895	D	0.537	0.80605	.	.	0.946304326258	0.94573	0.868387896329339	0.86803	0.59109759983	0.54556	0.366829067469	0.20376	T	0.316303	0.68785	T	-0.231679	0.16426	T	-0.0977483	0.63571	T	0.17998841624722	0.19234	T	0.788221	0.44094	T	0.90280396	0.91635	0.6312283	0.78486	0.90280396	0.91636	0.6312283	0.78487	-7.959	0.61771	D	0.6286499573945256	0.69779	0.166	0.42200	B	.;.;.	.;.;.	3.575301	0.50375	22.9	0.99614450537969501	0.74992	0.94852	0.62553	D	AEFDBIJ	0.662648	0.63245	D	0.516027948278005	0.68037	5.162374	0.338640393702899	0.57825	3.949946	0.999999954642827	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.08	3.94	0.44807	5.201000	0.64999	6.016000	0.52721	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0:0.0785:0.0:0.9215	10.103	0.41690	867	0.32089	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1576.33	33	chr10	89215019	.	T	C	1576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=764;ExcessHet=0;FS=5.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.693;SOR=0.58	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1590,0,1798	18	0	1	0
chr10	91460485	91460485	T	A	exonic	HECTD2	.	nonsynonymous SNV	HECTD2:NM_001284274:exon3:c.T327A:p.D109E,HECTD2:NM_001348365:exon3:c.T6A:p.D2E,HECTD2:NM_173497:exon3:c.T327A:p.D109E,HECTD2:NM_182765:exon3:c.T327A:p.D109E	.	428	1077	16	1	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0058	0.00479233	0.0062	0.0014	0.0011	0	0.0048	0.0065	0.0088	0.0150	0.0059314	917	154602	rs61754654	0.0069	0.0070	0.0067	0.0072	0.0154	0.0068	0.0068	0.0147	0.0144	0.0010	0.0017	0.0013	7.567e-05	0.0053	0.0035	0.0071	0.0071	0.0154	0.0044	0.0044	0.0043	0.0046	0.0130	0.0042	0.0041	0.0105	0.0095	0.0011	0	0.0029	0.0012	0	0.0040	0.0102	0.0069	0.0014	0.0130	0.205	0.24857	T	0.802	0.28300	T	0.004	0.12183	B	0.004	0.10090	B	0.000001	0.84330	N	0.052689	0.702389	0.30091	N	0.55	0.14455	N	1.28	0.53943	T	-0.53	0.45949	N	0.339	0.38950	-1.0998	0.04116	T	0.050	0.21417	T	10	0.005548686	0.00123	T	.	.	.	0.057	0.16321	0.237	0.16760	0.0675242888579	0.06100	0.24668198629985882	0.24582	0.454724693131	0.45157	0.447286248207	0.31574	T	0.002438	0.07968	T	-0.501832	0.00558	T	-0.489198	0.23475	T	0.00127027247617344	0.00013	T	0.489451	0.21027	T	0.07933065	0.18118	0.04639681	0.06456	0.07933065	0.18118	0.04639681	0.06455	-2.967	0.09830	T	.	.	0.107	0.28835	B	.;.;.;.	.;.;.;.	0.744747	0.11144	7.785	0.90274591098455936	0.19543	0.25097	0.22596	N	AEFBI	0.091133	0.18463	N	-1.04590637968872	0.07668	0.356994	-1.05254450562106	0.08654	0.4265738	9.0706099835822E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.39	0.398	0.15542	0.497000	0.22222	1.260000	0.25225	-0.120000	0.14102	0.264000	0.24988	0.926000	0.28431	0.079000	0.17189	0.1335:0.2938:0.0:0.5727	4.616	0.11814	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	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.011364	0.02632	1374.33	36	chr10	91460485	.	T	A	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.42;DP=780;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-0.633;SOR=0.817	GT:AD:DP:GQ:PL	0/1:91,58:149:99:1388,0,2062	18	0	1	0
chr10	93389070	93389070	G	A	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_133337:exon17:c.C1502T:p.T501M,MYOF:NM_013451:exon18:c.C1541T:p.T514M	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.059698295987	.	.	0.0001	0	0.0002	0	0	1.499e-05	0.0011	0.0005	8.41e-05	13	154602	rs374984115	4.994e-05	4.994e-05	3.267e-05	6.739e-05	0.0009	4.059e-05	3.734e-05	0.0004	0.0004	2.987e-05	4.473e-05	0	2.52e-05	0	0.0009	9.893e-06	8.28e-05	0.0006	2.628e-05	3.283e-05	3.854e-05	1.345e-05	6.545e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.545e-05	0	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.052012	0.999998	0.58761	D	2.98	0.85499	M	-1.92	0.84773	D	-3.11	0.63669	D	0.348	0.39962	0.680	0.92924	D	0.770	0.92174	D	10	0.31721073	0.49133	T	0.059698	0.67751	D	0.483	0.77271	0.273	0.22369	0.932854520888	0.93216	0.7982710769194075	0.79780	0.609560581112	0.55682	0.7791492939	0.78800	T	0.212183	0.57315	T	-0.0581663	0.43193	T	0.0361559	0.72678	D	0.72348415851593	0.41875	D	0.940306	0.77472	D	0.41761747	0.61933	0.37971613	0.63020	0.41761747	0.61934	0.37971613	0.63020	-10.629	0.77584	D	.	.	0.224	0.45653	B	.;.	.;.	4.385789	0.67640	25.1	0.99889861653668677	0.96436	0.98205	0.80520	D	AEFBI	0.810954	0.73406	D	0.754985781262966	0.83230	7.963057	0.694231675056381	0.81941	7.645718	0.999999994527708	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	6.842000	0.75173	8.689000	0.78070	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.295	0.90084	418	0.81602	.;Ferlin, third 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	1191.33	34	chr10	93389070	.	G	A	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.165;SOR=0.735	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1205,0,1096	18	0	1	0
chr10	95938628	95938628	T	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon8:c.T595C:p.F199L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.77e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003698	0.34611	N	0.280867	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0413	0.16921	T	0.063	0.26244	T	6	0.15913004	0.29907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488951	0.15001	T	0.07450228	0.16722	0.09835596	0.23446	0.07450228	0.16722	0.09835596	0.23445	.	.	.	.	.	0.805	0.77499	P	.;.	.;.	1.050048	0.14311	10.89	0.86527769880785077	0.16596	0.54081	0.29528	D	AEFBI	.	.	.	-0.12361232976119	0.36366	2.101062	-0.0461718473644718	0.37656	2.207774	7.6425886354954E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	0.252671	0.32781	5.86	3.53	0.39533	0.459000	0.21619	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1523:0.0829:0.0:0.7648	5.534	0.16289	716	0.55970	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	337.81	149	chr10	95938628	.	T	C	337.81	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.079;DP=1474;ExcessHet=0.3672;FS=137.288;InbreedingCoeff=-0.0861;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.195;SOR=8.302	GT:AD:DP:GQ:PL	0/1:125,26:151:99:152,0,2746	16	0	3	0
chr10	97366167	97366167	C	T	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001284337:exon26:c.G3158A:p.R1053Q,RRP12:NM_001145114:exon27:c.G3275A:p.R1092Q,RRP12:NM_015179:exon29:c.G3458A:p.R1153Q	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	.	0.0031	0.00159744	0.0046	0.0019	0.0045	0	0.0133	0.0051	0.0088	0.0031	0.004366	675	154602	rs139305944	0.0049	0.0050	0.0050	0.0049	0.0050	0.0048	0.0048	0.0049	0.0049	0.0008	0.0024	0.0108	0	0.0130	0.0005	0.0050	0.0048	0.0031	0.0039	0.0039	0.0034	0.0045	0.0048	0.0037	0.0036	0.0044	0.0042	0.0010	0.0132	0.0006	0.0072	0	0.0154	0	0.0048	0.0014	0.0029	0.004	0.65419	D	0.005	0.92824	D	1.0	0.90584	D	0.982	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.88	0.46412	T	-3.37	0.66896	D	0.925	0.92901	-0.1909	0.77905	T	0.353	0.71619	T	10	0.01132524	0.00248	T	.	.	.	0.425	0.73299	.	.	0.793235099267	0.79131	0.6268899746400892	0.62621	0.725541865451	0.62459	0.48590940237	0.36872	T	0.371251	0.73565	T	-0.153168	0.27816	T	0.00802426	0.70855	D	0.0336146618345535	0.02573	T	0.977902	0.92154	D	0.51728725	0.68103	0.35235226	0.60814	0.51728725	0.68104	0.35235226	0.60814	-10.074	0.74354	D	.	.	0.593	0.68570	P	.;.;.;.;.	.;.;.;.;.	5.480452	0.91376	32	0.99946734142647831	0.99913	0.96391	0.68909	D	AEFDBCIJ	0.866318	0.78570	D	0.757458941356287	0.83390	8.004957	0.674876147030588	0.80476	7.307179	0.999999999976639	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.19	4.28	0.50183	7.185000	0.77253	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.8451:0.1549:0.0	13.697	0.62065	442	0.79946	.;.;.;.;.	RRP12	Muscle_Skeletal	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1301.33	34	chr10	97366167	.	C	T	1301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.242;DP=912;ExcessHet=0;FS=1.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.07;SOR=0.922	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1315,0,958	18	0	1	0
chr10	104358459	104358459	A	G	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon2:c.A128G:p.Y43C	.	433	1075	13	1	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	.	7.7e-05	0.00259585	0.0017	9.804e-05	0.0003	0.0001	0	0.0001	0.0011	0.0114	0.0014101	218	154602	rs368634585	0.0008	0.0008	0.0005	0.0011	0.0119	0.0008	0.0007	0.0113	0.0110	0	0.0002	0	2.519e-05	0	0.0016	5.576e-05	0.0008	0.0119	0.0003	0.0003	0.0002	0.0005	0.0089	0.0003	0.0002	0.0068	0.0061	0	0	0.0002	0	0	0	0	5.881e-05	0	0.0089	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000009	0.62929	D	0.114128	0.999991	0.81001	D	.	.	.	0.24	0.59583	T	-8.17	0.96779	D	0.883	0.88137	0.166	0.85336	D	0.488	0.80515	T	10	0.015150338	0.00318	T	.	.	.	0.534	0.80426	.	.	0.484182897458	0.48051	0.761750114499266	0.76123	0.311889514168	0.33491	0.728229939938	0.71248	T	0.311709	0.68358	T	-0.0048353	0.50985	T	0.229673	0.84653	D	0.213273793058904	0.21123	T	0.919108	0.70849	D	0.8232791	0.85442	0.8305938	0.90223	0.8232791	0.85443	0.8305938	0.90224	-10.999	0.79653	D	.	.	0.846	0.79542	P	.	.	4.738330	0.76383	26.5	0.99840437554188732	0.92057	0.96648	0.70202	D	AEFI	0.843372	0.76041	D	0.888156312809238	0.91168	10.74845	0.821724997600397	0.91261	10.79824	0.999986608286928	0.51787	0.549168	0.22868	0	0.610034	0.51514	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.57	5.57	0.84021	6.006000	0.70384	9.266000	0.79598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.035	0.80419	130	0.94779	.	.	.	.	.	.	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	0.003024	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	715.33	34	chr10	104358459	.	A	G	715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.909;SOR=0.771	GT:AD:DP:GQ:PL	0/1:53,28:81:99:729,0,1407	18	0	1	0
chr10	113679864	113679864	C	T	exonic	CASP7	.	nonsynonymous SNV	CASP7:NM_001267057:exon1:c.C110T:p.P37L	.	442	1073	7	0	0	7	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0	0	0	.	0.0005	0.0104	0.0022	9.7e-05	15	154602	rs773602269	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0008	0.0007	0	0	0.0009	0	0	0.0012	6.484e-05	0.0002	0.0010	0.0001	0.0001	8.07e-05	0.0001	0.0011	6.899e-05	5.555e-05	0.0004	0.0003	0	0	0.0001	0.0006	0	0	0	0.0001	0	0.0011	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	0.998126	0.25774	N	.	.	.	.	.	.	.	.	.	0.164	0.17278	.	.	.	.	.	.	.	0.022628605	0.00570	T	.	.	.	.	.	.	.	0.740237584954	0.73791	0.12038199031824667	0.11965	.	.	0.656003177166	0.60839	T	0.010247	0.09270	T	-0.429503	0.01492	T	-0.430261	0.29906	T	.	.	.	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18539	B	.	.	2.080246	0.26459	17.12	0.90174997574030924	0.19451	0.01353	0.04639	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999996	0.74766	0.030766	0.00208	2	0.08856	0.02465	0	0.024116	0.00154	2	0.088244	0.02422	0	0.111725	0.23784	3.12	2.18	0.26813	1.408000	0.34277	6.084000	0.53377	0.522000	0.23927	0.007000	0.17678	0.901000	0.27973	0.030000	0.13115	0.0:0.7867:0.2133:0.0	9.737	0.39559	886	0.28090	.	.	.	.	.	.	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	924.33	59	chr10	113679864	.	C	T	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.381;DP=857;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.487;SOR=1.169	GT:AD:DP:GQ:PL	0/1:27,32:59:99:938,0,743	18	0	1	0
chr10	116674897	116674897	C	T	exonic	HSPA12A	.	nonsynonymous SNV	HSPA12A:NM_025015:exon12:c.G1912A:p.A638T,HSPA12A:NM_001330164:exon13:c.G1963A:p.A655T	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0030	0.00339457	0.0049	0.0003	0.0020	0.0005	0.0336	0.0043	0.0100	0.0024	0.0044566	689	154602	rs41284376	0.0048	0.0048	0.0048	0.0048	0.0044	0.0047	0.0047	0.0043	0.0042	0.0005	0.0025	0.0015	5.038e-05	0.0286	0.0035	0.0044	0.0047	0.0024	0.0050	0.0050	0.0040	0.0061	0.0046	0.0047	0.0046	0.0042	0.0040	0.0006	0	0.0031	0.0014	0.0002	0.0328	0.0068	0.0046	0.0047	0.0027	0.637	0.05046	T	0.59	0.08217	T	0.0	0.02946	B	0.002	0.06944	B	0.147479	0.18079	N	0.615275	0.99994	0.19238	N	0.035	0.08059	N	0.99	0.41750	T	0.09	0.05917	N	0.014	0.00160	-1.0198	0.23780	T	0.028	0.11882	T	10	0.0039788485	0.00077	T	.	.	.	0.149	0.39377	.	.	0.143184338766	0.13958	0.11634287705498605	0.11562	0.422096880347	0.42711	0.28210157156	0.07788	T	0.068243	0.33408	T	-0.688817	0.00042	T	-0.759742	0.03121	T	0.00190642261958763	0.00019	T	0.727827	0.34232	T	0.052773494	0.09890	0.048195887	0.07109	0.052773494	0.09890	0.048195887	0.07108	-3.749	0.20044	T	.	.	0.064	0.01645	B	.;.	.;.	0.686556	0.10553	7.261	0.80151849276063514	0.13068	0.06335	0.12333	N	AEFBI	0.091554	0.18544	N	-1.08599041841247	0.06901	0.3190054	-1.03791046706906	0.08960	0.4432282	0.994258586573865	0.33555	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.02	-1.03	0.09586	0.040000	0.13791	-0.056000	0.12484	0.599000	0.40250	0.007000	0.17678	0.000000	0.08366	0.257000	0.23443	0.0:0.3231:0.366:0.311	5.918	0.18302	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.020202	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2653.33	33	chr10	116674897	.	C	T	2653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.457;DP=838;ExcessHet=0;FS=0.5;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.167;SOR=0.654	GT:AD:DP:GQ:PL	0/1:111,106:217:99:2667,0,2642	18	0	1	0
chr10	117341050	117341050	C	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925C:p.E309Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.115356928521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.227	0.25362	T	0.361	0.33905	B	0.068	0.27651	B	0.100580	0.19880	N	0.530412	0.72942	0.33703	D	1.04	0.26193	L	-2.02	0.85542	D	-0.26	0.11185	N	0.307	0.34659	-0.2578	0.76147	T	0.382	0.73862	T	10	0.1287536	0.24493	T	0.115357	0.79451	D	0.219	0.51417	0.262	0.20631	0.41089407703	0.40707	0.32572278031787566	0.32485	0.733746948318	0.62856	0.471481502056	0.34884	T	0.004072	0.03483	T	-0.0192899	0.48954	T	-0.265485	0.48274	T	0.299490293607814	0.24983	T	0.535046	0.17917	T	0.10697685	0.25296	0.07411807	0.16179	0.10697685	0.25296	0.07411807	0.16178	-4.109	0.25423	T	.	.	0.137	0.29833	B	.	.	2.687011	0.35067	19.80	0.99215066277239283	0.55716	0.83537	0.42647	D	AEFBI	0.436196	0.49651	N	0.0261702783483278	0.43048	2.605428	0.215140493430459	0.50686	3.258188	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	G	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,37:128:99:0|1:117341048_C_T:108,0,2457:117341048	13	0	4	2
chr10	119030300	119030300	-	CCGCCG	exonic	NANOS1	.	nonframeshift insertion	NANOS1:NM_199461:exon1:c.499_500insCCGCCG:p.A173_T174insAA	Spermatogenic failure 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	701208	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs538539239	0.0006	0.0005	0.0006	0.0006	0.0155	0.0005	0.0005	0.0141	0.0135	0.0155	0.0003	0	0.0002	0	0.0020	6.753e-05	0.0017	0.0071	0.0040	0.0040	0.0042	0.0038	0.0127	0.0037	0.0036	0.0118	0.0114	0.0127	0	0.0007	0	0	0	0	0.0003	0.0010	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	145.37	17	chr10	119030300	.	C	CCCGCCG	145.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.674;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0322;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.77;ReadPosRankSum=0.484;SOR=0.941	GT:AD:DP:GQ:PL	0/1:3,4:7:99:159,0,114	18	0	1	0
chr10	119050586	119050586	C	T	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon16:c.G2408A:p.R803K	.	437	1078	7	0	0	7	0.00323625	.	.	.	712190	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0028	0.0225639	0.0090	0.0086	0.0004	0.0572	0	0.0001	0.0055	0.0299	0.0082793	1280	154602	rs77382849	0.0037	0.0037	0.0031	0.0043	0.0581	0.0036	0.0036	0.0561	0.0553	0.0092	0.0003	0.0005	0.0581	0	0.0017	8.364e-05	0.0058	0.0272	0.0054	0.0055	0.0046	0.0063	0.0659	0.0051	0.0050	0.0602	0.0579	0.0072	0	0.0008	0.0009	0.0659	0	0	0.0001	0.0052	0.0315	0.428	0.36509	T	0.182	0.29249	T	0.956	0.54666	P	0.931	0.66596	D	0.049448	0.23159	N	0.187382	0.999963	0.52935	D	1.445	0.36358	L	4.37	0.27822	T	-1.49	0.36385	N	0.229	0.25745	-0.8825	0.49561	T	0.002	0.00646	T	10	0.0031330884	0.00052	T	.	.	.	0.113	0.31778	.	.	0.316310170894	0.31242	0.42220216578160685	0.42136	0.496559253354	0.48160	0.557454943657	0.46908	T	0.027063	0.19900	T	-0.552525	0.00282	T	-0.508089	0.21512	T	0.0439077785561532	0.04404	T	0.780122	0.41468	T	0.0883745	0.20612	0.08877662	0.20720	0.0883745	0.20612	0.08877662	0.20719	-5.731	0.43968	T	.	.	0.622	0.69763	P	.;.	.;.	3.459697	0.48218	22.6	0.96280735405224127	0.29279	0.89815	0.50527	D	AEFBCI	0.673338	0.63943	D	0.494992987700398	0.66796	4.996791	0.486257133065782	0.67079	5.036209	0.999999989792603	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	4.66	0.57857	5.510000	0.66737	5.940000	0.51464	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:0.9216:0.0:0.0783	13.182	0.59084	448	0.79501	.;.	.	.	.	.	rs77382849	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.018939	0.02632	2052.33	35	chr10	119050586	.	C	T	2052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=791;ExcessHet=0;FS=2.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.913;SOR=0.897	GT:AD:DP:GQ:PL	0/1:70,84:154:99:2066,0,1705	18	0	1	0
chr10	119178778	119178778	C	T	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon1:c.G13A:p.V5I,PRDX3:NM_006793:exon1:c.G13A:p.V5I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00399361	0.0041	0	0.0029	0	0	0	0	0.0085	0.0007827	121	154602	rs369293519	0.0006	0.0006	0.0004	0.0009	0.0090	0.0006	0.0006	0.0084	0.0082	0	0.0002	0	2.788e-05	0	0	0.0001	0.0007	0.0090	0.0004	0.0004	0.0003	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	6.532e-05	0	0	0	0	0.0001	0	0.0110	0.677	0.04469	T	0.833	0.03685	T	0.0	0.02946	B	0.003	0.08700	B	0.666483	0.06010	N	1.151630	1	0.08975	N	1.19	0.30124	L	2.79	0.11189	T	-0.05	0.07736	N	0.215	0.24010	-0.9619	0.38819	T	0.014	0.05513	T	10	0.004670471	0.00098	T	.	.	.	0.029	0.06676	.	.	0.173771789658	0.16945	0.17397300375979538	0.17317	0.0589115962734	0.06543	0.344560861588	0.17117	T	0.07157	0.34241	T	-0.601079	0.00144	T	-0.629787	0.10431	T	0.00890234122628818	0.00111	T	0.585741	0.21356	T	0.0288537	0.02288	0.03904609	0.03907	0.0288537	0.02288	0.03904609	0.03907	-5.675	0.43470	T	.	.	0.107	0.20117	B	.	.	0.840203	0.12120	8.670	0.77499137707934984	0.11901	0.00864	0.03432	N	ALL	0.257648	0.37634	N	-1.09485314755697	0.06737	0.3110086	-1.04281710503106	0.08857	0.4375761	0.999999999999854	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.16	2.16	0.26663	0.042000	0.13834	-0.904000	0.06980	-0.229000	0.07765	0.001000	0.13787	0.000000	0.08366	0.095000	0.18041	0.3252:0.4296:0.1571:0.0881	2.950	0.05500	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	616.33	34	chr10	119178778	.	C	T	616.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=707;ExcessHet=0;FS=0.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.816;SOR=0.499	GT:AD:DP:GQ:PL	0/1:40,28:68:99:630,0,1003	18	0	1	0
chr10	122637181	122637181	C	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon38:c.C4540A:p.Q1514K,DMBT1:NM_017579:exon50:c.C6394A:p.Q2132K,DMBT1:NM_001320644:exon51:c.C6421A:p.Q2141K,DMBT1:NM_007329:exon51:c.C6424A:p.Q2142K,DMBT1:NM_001377530:exon54:c.C6811A:p.Q2271K	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	.	.	0.00499201	0.0032	0.0001	0.0004	0.0001	0	1.499e-05	0.0033	0.0231	0.0028072	434	154602	rs543589037	0.0014	0.0014	0.0008	0.0020	0.0223	0.0013	0.0013	0.0214	0.0211	8.961e-05	0	0	0	0	0.0005	1.349e-05	0.0012	0.0223	0.0008	0.0008	0.0004	0.0012	0.0249	0.0007	0.0006	0.0212	0.0199	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0249	0.054	0.47745	T	0.183	0.29740	T	0.775	0.45403	P	0.225	0.42203	B	0.055431	0.22643	U	0.216309	0.844098	0.28589	N	1.67	0.42885	L	-1.57	0.81900	D	-1.83	0.46673	N	0.287	0.35301	-0.1895	0.77940	T	0.439	0.77796	T	10	0.005826175	0.00130	T	.	.	.	0.282	0.59981	.	.	0.847530603234	0.84606	0.21228382884223634	0.21144	0.334990745553	0.35507	0.282208532095	0.07802	T	0.151881	0.49203	T	-0.397485	0.02405	T	-0.32748	0.41748	T	0.0307138533372576	0.02100	T	0.706229	0.31676	T	0.17294754	0.38015	0.17847337	0.40518	0.17294754	0.38014	0.17847337	0.40517	-9.379	0.70104	D	.	.	0.166	0.43640	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.595446	0.33679	19.41	0.9678928379493168	0.31105	0.22640	0.21814	N	AEFDBHCI	0.093722	0.18959	N	-0.0455109477000612	0.39803	2.353221	-0.0275343976084883	0.38477	2.267411	0.978743176698853	0.29954	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	1.889000	0.39352	.	.	0.599000	0.40250	0.085000	0.22462	0.019000	0.20708	0.588000	0.31090	0.1579:0.842:0.0:0.0	13.385	0.60237	570	0.70478	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.018939	0.05263	2703.83	35	chr10	122637181	.	C	A	2703.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.42;DP=828;ExcessHet=0.119;FS=1.574;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.455;SOR=0.803	GT:AD:DP:GQ:PL	0/1:47,60:107:99:1446,0,1030	17	0	2	0
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|1:96,38:134:99:0|1:124989533_G_A:1115,0,3876:124989533	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	0/1:105,26:131:99:513,0,3405	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	0/1:118,19:137:5:5,0,3218	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|1:123,21:144:99:0|1:124994489_T_G:512,0,5081:124994489	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|1:125,22:147:99:0|1:124994489_T_G:548,0,5162:124994489	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|1:125,24:149:99:0|1:124994489_T_G:603,0,5101:124994489	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|1:124,31:155:99:0|1:124994523_G_A:929,0,4918:124994523	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	0/1:130,34:164:99:532,0,3663	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	0/1:135,37:172:99:520,0,3793	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|1:144,37:181:99:0|1:124994577_C_A:1120,0,5830:124994577	0	0	19	0
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	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	.	.	.	.	.	.	.	.	0.2727	522.42	224	chr10	125003036	.	C	A	522.42	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.179;DP=2686;ExcessHet=2.0135;FS=10.865;InbreedingCoeff=-0.3614;MLEAC=8;MLEAF=0.364;MQ=56.82;MQRankSum=-4.942;QD=0.84;ReadPosRankSum=0.899;SOR=1.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,13:118:99:0|1:125003036_C_A:190,0,4326:125003036	5	0	6	8
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	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	.	.	.	.	.	.	.	.	0.3182	1099.74	206	chr10	125003062	.	T	A	1099.74	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.677;DP=2663;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.4087;MLEAC=10;MLEAF=0.455;MQ=56.84;MQRankSum=-5.566;QD=1.47;ReadPosRankSum=1.17;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,13:108:99:0|1:125003062_T_A:260,0,3928:125003062	4	0	7	8
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	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	.	.	.	.	.	.	.	.	0.3182	1090.65	204	chr10	125003065	.	T	A	1090.65	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.972;DP=2662;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.408;MLEAC=10;MLEAF=0.455;MQ=56.85;MQRankSum=-5.599;QD=1.45;ReadPosRankSum=1.2;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,13:108:99:0|1:125003062_T_A:260,0,3928:125003062	4	0	7	8
chr10	128112204	128112204	C	T	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon8:c.G818A:p.R273Q,MKI67:NM_002417:exon9:c.G1898A:p.R633Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0352065868383	0.0003	0.000599042	0.0005	0	0	0	0	0.0007	0.0011	0.0007	0.0004722	73	154602	rs76882822	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0006	0.0005	0.0001	8.944e-05	3.826e-05	2.519e-05	3.744e-05	0.0003	0.0004	0.0003	0.0007	0.0004	0.0004	0.0003	0.0006	0.0008	0.0004	0.0003	0.0007	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0008	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000120	0.50451	D	0.074478	1	0.08975	N	2.31	0.66127	M	4.18	0.02767	T	-2.73	0.64710	D	0.117	0.10626	-1.1292	0.01821	T	0.030	0.13023	T	10	0.030032247	0.01130	T	0.035207	0.56191	D	0.093	0.26882	.	.	0.306695030598	0.30287	0.19251768469360261	0.19169	0.314042582292	0.33690	0.283532321453	0.07989	T	0.103553	0.41230	T	-0.455506	0.01047	T	-0.508863	0.21432	T	0.0909621260662282	0.11332	T	0.776822	0.48145	T	0.08087787	0.18554	0.086246595	0.19968	0.08087787	0.18553	0.086246595	0.19968	-1.816	0.05326	T	.	.	0.213	0.44161	B	.;.	.;.	3.126163	0.42227	21.5	0.99881311120894989	0.95733	0.34707	0.25131	N	AEFDBCI	0.072062	0.14368	N	0.0573735535199925	0.44481	2.721471	-0.178657586685279	0.32323	1.837784	0.99883159904595	0.37777	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.39	3.11	0.34883	2.787000	0.47487	4.290000	0.42908	0.599000	0.40250	0.326000	0.25555	1.000000	0.68203	0.016000	0.10718	0.0:0.872:0.0:0.128	9.041	0.35479	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2245.33	33	chr10	128112204	.	C	T	2245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=839;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.051;SOR=0.711	GT:AD:DP:GQ:PL	0/1:111,91:202:99:2259,0,2597	18	0	1	0
chr10	132133457	132133457	C	T	exonic	JAKMIP3	.	nonsynonymous SNV	JAKMIP3:NM_001105521:exon4:c.C779T:p.P260L,JAKMIP3:NM_001323086:exon4:c.C779T:p.P260L,JAKMIP3:NM_001323087:exon4:c.C779T:p.P260L,JAKMIP3:NM_001323088:exon4:c.C779T:p.P260L,JAKMIP3:NM_001323090:exon4:c.C779T:p.P260L	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0002	0.00259585	0.0014	0	0	0	0	0.0002	0	0.0056	0.0006339	98	154602	rs374372503	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0003	0.0040	0.0038	3.052e-05	0	0	0.0002	0	0.0003	3.641e-05	0.0005	0.0044	0.0003	0.0003	0.0002	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	4.809e-05	0	0	0	0	0	0	0.0001	0	0.0068	0.657	0.04742	T	0.663	0.06448	T	0.0	0.02946	B	0.0	0.01387	B	0.276370	0.15029	N	0.633514	0.996055	0.23127	N	-1.04	0.01097	N	2.74	0.11730	T	-1.01	0.26639	N	0.186	0.20262	-0.9676	0.37693	T	0.007	0.02439	T	10	0.0036103725	0.00065	T	.	.	.	0.046	0.12618	.	.	0.0401082797425	0.02173	0.2071371250481263	0.20629	0.262508907343	0.28810	0.385232031345	0.22995	T	0.020059	0.15863	T	-0.690456	0.00042	T	-0.763616	0.02984	T	0.0126356011781552	0.00211	T	0.735926	0.35246	T	0.034650158	0.03928	0.030213136	0.01449	0.034650158	0.03927	0.030213136	0.01448	-0.495	0.00580	T	.	.	0.052	0.00225	B	.	.	1.296797	0.16982	12.89	0.61422658774916639	0.06705	0.26837	0.23107	N	AEFDBCI	0.037547	0.05181	N	-1.23214033243148	0.04540	0.2051315	-1.05531879061184	0.08596	0.4234278	0.0788457899259155	0.15800	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.63	-3.0	0.05148	0.859000	0.27513	-1.071000	0.06420	-0.195000	0.09104	1.000000	0.71638	0.001000	0.17328	0.974000	0.55675	0.0:0.192:0.1179:0.6902	6.801	0.22935	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003043	0.005155	0.001359	0.005848	0.000000	0.000000	0.003125	0.003817	0.02632	1498.33	35	chr10	132133457	.	C	T	1498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.215;DP=740;ExcessHet=0;FS=2.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.724;SOR=0.872	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1512,0,1344	18	0	1	0
chr10	133352285	133352285	C	T	exonic	PRAP1	.	nonsynonymous SNV	PRAP1:NM_001145201:exon5:c.C274T:p.H92Y,PRAP1:NM_145202:exon5:c.C301T:p.H101Y	.	.	.	.	.	.	.	.	.	.	.	3584430	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0110125085597	.	.	7.442e-05	9.634e-05	0.0002	0	0	3.015e-05	0.0011	0.0002	5.82e-05	9	154602	rs753881367	4.039e-05	4.104e-05	2.452e-05	5.642e-05	0.0003	3.181e-05	2.912e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0	2.608e-05	4.969e-05	0.0003	6.574e-05	6.567e-05	6.427e-05	6.728e-05	0.0002	3.518e-05	2.617e-05	7.899e-05	5.592e-05	0.0002	0	0	0	0	0	0	2.941e-05	0	0.0002	0.027	0.46513	D	0.035	0.52389	D	0.118	0.26577	B	0.041	0.23986	B	0.046549	0.01961	N	2.450000	1	0.08975	N	1.385	0.34509	L	1.46	0.32238	T	-3.98	0.73788	D	0.165	0.21056	-1.0029	0.29080	T	0.073	0.29483	T	10	0.06151882	0.07724	T	0.011013	0.28187	T	0.031	0.07369	0.174	0.08014	0.0138822411134	0.00435	0.03892594964984804	0.03838	0.231157508262	0.25661	.	.	.	0.070344	0.33936	T	-0.469775	0.00853	T	-0.59061	0.13612	T	0.0427271749100674	0.04187	T	0.218978	0.04257	T	0.10851248	0.25656	0.11313174	0.27300	0.10851248	0.25656	0.11313174	0.27300	-4.067	0.24802	T	.	.	0.116	0.23255	B	.;.	.;.	0.039380	0.04562	1.246	0.99301481306921979	0.58650	0.01298	0.04511	N	AEFBI	0.331728	0.43136	N	-0.774383149769949	0.13980	0.6927635	-0.872232423214257	0.12754	0.6578905	0.59743433361869	0.21697	0.696267	0.57585	0	0.550933	0.16991	0	0.691665	0.62940	0	0.645665	0.59343	0	.	.	2.87	1.95	0.25130	-0.239000	0.08983	-0.339000	0.09830	-0.200000	0.08971	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.7414:0.2585:0.0	7.804	0.28357	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2342.33	39	chr10	133352285	.	C	T	2342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.003;DP=1064;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.417;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,92:183:99:0|1:133352285_C_T:2356,0,2309:133352285	18	0	1	0
chr11	285188	285188	G	A	exonic	NLRP6	.	nonsynonymous SNV	NLRP6:NM_001276700:exon8:c.G2560A:p.E854K,NLRP6:NM_138329:exon8:c.G2563A:p.E855K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0175045878038	0.0007	0.00179712	0.0014	0.0027	0	0	0	0.0005	0	0.0040	0.0005563	86	154602	rs138624921	0.0004	0.0004	0.0003	0.0005	0.0026	0.0004	0.0004	0.0023	0.0022	0.0011	0.0002	3.893e-05	0.0001	0	0.0003	0.0002	0.0006	0.0026	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0002	0	0	0	0	0.0002	0	0.0019	0.393	0.10730	T	0.245	0.24193	T	0.046	0.21875	B	0.005	0.11217	B	.	.	.	.	0.999998	0.08975	N	.	.	.	0.62	0.53302	T	-0.69	0.20791	N	0.38	0.42149	-1.0370	0.18233	T	0.076	0.30366	T	9	0.0043713152	0.00089	T	0.017505	0.39237	T	0.022	0.04323	.	.	0.0138822411134	0.00435	0.26124996429859315	0.26037	.	.	0.424424618483	0.28445	T	0.036237	0.24027	T	-0.500774	0.00566	T	-0.496094	0.22753	T	0.00203672736295604	0.00021	T	0.681532	0.29028	T	0.035001133	0.04038	0.058982365	0.10991	0.035001133	0.04037	0.058982365	0.10991	-5.696	0.43658	T	.	.	0.089	0.12181	B	.;.	.;.	1.562521	0.20012	14.55	0.90002518182087421	0.19293	0.03359	0.08450	N	AEFBI	0.094016	0.19016	N	-0.88894946912281	0.11105	0.5341075	-0.94222486462289	0.11105	0.563661	0.999669714785935	0.41534	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	2.17	1.24	0.20416	1.017000	0.29591	0.953000	0.22937	0.654000	0.53741	0.001000	0.13787	0.039000	0.21534	0.035000	0.13729	0.1635:0.2711:0.5654:0.0	3.458	0.07092	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	0	0	0.002024	0.010309	0.000000	0.005882	0.000000	0.000000	0.003067	0.000000	0.02632	783.33	34	chr11	285188	.	G	A	783.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=717;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.66;SOR=0.861	GT:AD:DP:GQ:PL	0/1:44,29:73:99:797,0,1059	18	0	1	0
chr11	597462	597462	G	C	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon8:c.G786C:p.R262S,PHRF1:NM_001286582:exon8:c.G783C:p.R261S,PHRF1:NM_001286583:exon8:c.G774C:p.R258S,PHRF1:NM_020901:exon8:c.G786C:p.R262S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.19259054285	.	.	6.397e-05	0.0001	0	0	0	6.515e-05	0	0.0001	4.53e-05	7	154602	rs779928956	2.876e-05	2.941e-05	2.18e-05	3.579e-05	8.141e-05	2.153e-05	1.909e-05	3.776e-05	2.669e-05	0	0	0	0	0	0	3.059e-05	1.657e-05	8.141e-05	1.971e-05	1.97e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.88582	D	0.001465	0.38917	N	0.000000	0.962924	0.41169	D	1.965	0.53209	M	-1.62	0.82625	D	-4.16	0.75375	D	0.643	0.67995	0.089	0.83969	D	0.615	0.86405	D	10	0.6567189	0.69916	D	0.192591	0.86253	D	0.465	0.76089	0.307	0.27806	0.379902899194	0.37607	0.7216881233613675	0.72112	0.113901460295	0.12851	0.683348894119	0.64750	T	0.428778	0.77780	T	-0.0919847	0.37749	T	-0.110227	0.62593	T	0.257669261357316	0.23213	T	0.915408	0.71908	D	0.48766685	0.66363	0.5167423	0.72078	0.48766685	0.66364	0.5167423	0.72079	-7.519	0.57744	D	.	.	0.422	0.64459	A	.;.;.;.	.;.;.;.	2.784387	0.36587	20.3	0.9966650918380584	0.78266	0.75053	0.36732	D	AEFBHCI	0.428915	0.49225	N	0.18121408961939	0.50298	3.221105	0.038070910305765	0.41500	2.494188	0.261925140677017	0.18799	0.712529	0.81865	0	0.702456	0.74545	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.23	0.027	0.13473	0.284000	0.18624	1.659000	0.27889	0.667000	0.69007	0.996000	0.39380	1.000000	0.68203	0.901000	0.43729	0.47:0.0:0.53:0.0	9.156	0.36158	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1241.33	38	chr11	597462	.	G	C	1241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.259;DP=745;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.616;SOR=0.767	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1255,0,1290	18	0	1	0
chr11	617383	617383	C	T	exonic	CDHR5	.	nonsynonymous SNV	CDHR5:NM_031264:exon14:c.G1924A:p.D642N,CDHR5:NM_001171968:exon15:c.G2488A:p.D830N,CDHR5:NM_021924:exon15:c.G2506A:p.D836N	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0270366704995	0.0015	0.000399361	0.0010	0.0006	0.0003	0.0001	0	0.0012	0.0026	0.0019	0.0008473	131	154602	rs143800672	0.0012	0.0012	0.0011	0.0012	0.0016	0.0011	0.0011	0.0012	0.0012	0.0002	0.0006	0.0022	0	5.775e-05	0.0016	0.0012	0.0020	0.0014	0.0008	0.0008	0.0009	0.0007	0.0015	0.0007	0.0007	0.0011	0.0010	0.0001	0	0.0007	0.0017	0.0002	0	0	0.0013	0.0019	0.0015	0.0	0.91255	D	0.029	0.92824	D	0.312	0.32836	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.28	0.59176	T	-1.58	0.38151	N	0.092	0.32148	-0.9729	0.36583	T	0.109	0.39415	T	9	0.005690515	0.00126	T	0.027037	0.49893	D	0.065	0.18881	.	.	0.0762999501168	0.06990	0.13509580357194745	0.13433	0.0416331187083	0.04473	0.610970854759	0.54453	T	0.004843	0.04259	T	-0.536351	0.00352	T	-0.578585	0.14671	T	0.0469407673683733	0.04955	T	0.611339	0.23205	T	0.085289896	0.19778	0.09230769	0.21749	0.085289896	0.19778	0.09230769	0.21748	-5.65	0.51923	T	.	.	0.108	0.20547	B	.;.;.	.;.;.	0.908889	0.12830	9.346	0.97403093798631135	0.33785	0.01042	0.03892	N	AEFDBI	0.084658	0.17158	N	-1.19521819997786	0.05072	0.2303675	-1.33495100838831	0.03986	0.1870936	0.999927960126912	0.46280	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.14	-1.14	0.09241	-3.209000	0.00615	-2.004000	0.04359	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2354:0.3725:0.2316:0.1605	0.850	0.01095	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002941	0.000000	0.000000	0.003049	0.003788	0.02632	1751.33	33	chr11	617383	.	C	T	1751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.357;DP=1055;ExcessHet=0;FS=3.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.581;SOR=1.034	GT:AD:DP:GQ:PL	0/1:65,67:132:99:1765,0,1644	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	0/1:197,31:259:0:.:.:709,0,8179:.	5	0	14	0
chr11	1191075	1191146	AACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT	-	exonic	MUC5AC	.	nonframeshift deletion	MUC5AC:NM_001304359:exon31:c.12930_13001del:p.T4319_G4342del	.	444	1059	3	0	16	19	0.00141443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.02e-05	0.0038	2.593e-05	3.374e-05	0.0002	1.887e-05	1.556e-05	8.261e-05	5.007e-05	0.0002	0	0	5.705e-05	2.702e-05	0	1.76e-05	6.279e-05	4.44e-05	0.0020	0.0043	0.0020	0.0019	0.0025	0.0018	0.0017	0.0022	0.0021	0.0014	0.0011	0.0013	0.0017	0.0012	0.0031	0.0034	0.0025	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	391.29	356	chr11	1191074	.	CAACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT	C	391.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.162;DP=10308;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.01;MQRankSum=-23.68;QD=0.28;ReadPosRankSum=-0.966;SOR=0.787	GT:AD:DP:GQ:PL	0/1:1241,162:1403:99:405,0,44821	18	0	1	0
chr11	1248818	1248818	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G11938A:p.A3980T	.	.	.	.	.	.	.	.	.	.	.	2777963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00110425500288	.	.	0.0002	0	0	0	0	0.0003	0	0.0002	3.84e-05	1	26028	rs778338583	0.0001	0.0001	9.744e-05	0.0001	0.0003	9.535e-05	9.043e-05	0.0002	0.0002	0	0.0003	0.0006	5.598e-05	2.042e-05	0.0002	9.832e-05	0.0003	1.26e-05	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	2.527e-05	0	0.0007	0.0003	0	0	0	0.0002	0.0005	0	0.915	0.02338	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.085	0.27262	L	2.04	0.20808	T	-0.13	0.08971	N	0.148	0.15046	-1.0118	0.26353	T	0.030	0.13067	T	9	0.032455593	0.01397	T	0.001104	0.01312	T	0.006	0.00375	.	.	0.0675242888579	0.06100	0.26313167976076296	0.26226	.	.	0.219269186258	0.01268	T	0.014869	0.12575	T	-0.547455	0.00302	T	-0.722437	0.04678	T	0.00801134276213882	0.00095	T	0.370463	0.08742	T	0.022459261	0.00911	0.048602387	0.07254	0.022459261	0.00911	0.048602387	0.07254	-6.258	0.48389	T	.	.	0.070	0.03407	B	.	.	0.624265	0.09926	6.685	0.72067592741283737	0.09844	0.00236	0.01316	N	AEFI	0.030379	0.03048	N	-1.41769574718472	0.02483	0.1097217	-1.55270359353336	0.01957	0.08936465	9.97345952297202E-5	0.04910	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.35	-4.01	0.03775	0.082000	0.14697	-2.506000	0.03671	0.485000	0.22221	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.514:0.3007:0.1853:0.0	5.080	0.13989	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1526.33	49	chr11	1248818	.	G	A	1526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.372;DP=920;ExcessHet=0;FS=1.561;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.29;MQRankSum=-1.518;QD=12.94;ReadPosRankSum=1.13;SOR=0.908	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1540,0,1425	18	0	1	0
chr11	1250829	1250829	G	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13949C:p.R4650T	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0022	0.00998403	0.0078	0.0013	0.0019	0.0008	0.0003	0.0046	0.0076	0.0333	0.0063453	981	154602	rs199704716	0.0072	0.0081	0.0063	0.0081	0.0330	0.0071	0.0070	0.0319	0.0315	0.0013	0.0025	0.0089	0.0013	0.0011	0.0084	0.0059	0.0083	0.0330	0.0050	0.0050	0.0047	0.0052	0.0340	0.0047	0.0045	0.0297	0.0281	0.0018	0.0011	0.0038	0.0084	0.0014	0.0007	0.0071	0.0059	0.0044	0.0340	0.431	0.09514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.175	0.00131	N	2.35	0.16217	T	0.04	0.06488	N	0.026	0.00527	-0.9827	0.34375	T	0.015	0.06042	T	8	0.0036625862	0.00067	T	.	.	.	0.011	0.01250	.	.	0.043077524339	0.03247	0.2217473112674907	0.22089	.	.	0.260108709335	0.04903	T	0.015076	0.12713	T	-0.76032	0.00015	T	-0.841238	0.01080	T	0.00187877007298295	0.00019	T	0.210079	0.02530	T	0.060935345	0.12560	0.072975256	0.15807	0.060935345	0.12560	0.072975256	0.15806	0.131	0.00306	T	.	.	0.045	0.00051	B	.	.	-0.635716	0.01477	0.091	0.487978647465171	0.04102	0.00039	0.00329	N	AEFBI	.	.	.	-1.63730307468543	0.01090	0.04729457	-1.6896799995214	0.01183	0.05326659	9.02248078799318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.418	0.418	0.15647	-1.258000	0.02973	-2.843000	0.03305	-1.908000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008529	0.000000	0.001362	0.008403	0.000000	0.008621	0.018405	0.022727	0.02632	2770.33	49	chr11	1250829	.	G	C	2770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.646;DP=2525;ExcessHet=0;FS=14.739;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.57;MQRankSum=-5.188;QD=13.58;ReadPosRankSum=0.735;SOR=1.48	GT:AD:DP:GQ:PL	0/1:110,94:204:99:2784,0,3059	18	0	1	0
chr11	1608169	1608169	A	G	exonic	KRTAP5-3	.	nonsynonymous SNV	KRTAP5-3:NM_001012708:exon1:c.T217C:p.C73R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00398991130227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.14945	T	0.001	0.83351	D	0.064	0.23455	B	0.038	0.23361	B	.	.	.	.	0.99809	0.44502	D	3.145	0.88303	M	5.17	0.01185	T	-3.93	0.73267	D	0.192	0.21056	-1.0524	0.13736	T	0.008	0.02884	T	9	0.10965103	0.20463	T	0.00399	0.09462	T	0.068	0.19811	0.283	0.23961	0.0611884634855	0.05136	0.030609208806422303	0.03009	0.0256098080643	0.02620	.	.	.	0.117809	0.43816	T	-0.253625	0.13658	T	-0.602091	0.12636	T	0.194155272071474	0.20086	T	.	.	.	0.26731068	0.49803	0.3029296	0.56324	0.26731068	0.49803	0.3029296	0.56323	-5.777	0.44373	T	.	.	0.216	0.44540	B	.	.	1.976573	0.25106	16.64	0.58904718013482538	0.06100	0.05913	0.11866	N	AEFDBI	0.052107	0.09267	N	-0.53861688898373	0.20842	1.101762	-0.631305157762432	0.18691	0.9995884	0.0128094378282517	0.12377	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.562822	0.20929	0	.	.	3.57	2.29	0.27658	1.546000	0.35787	1.098000	0.24042	0.503000	0.22915	0.048000	0.21332	0.000000	0.08366	0.003000	0.05239	0.7968:0.0:0.0:0.2032	7.03	0.24142	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	1880.71	53	chr11	1608169	.	A	G	1880.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.72;DP=1430;ExcessHet=0;FS=0.655;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.62;SOR=0.788	GT:AD:DP:GQ:PL	0/1:52,83:135:99:1894,0,1119	17	0	1	1
chr11	2415956	2415956	G	A	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon8:c.C1078T:p.R360C	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.40596968915	0.0002	0.000399361	0.0004	0.0005	0	0	0	0.0006	0	0.0001	0.0001294	20	154602	rs141384348	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	6.059e-05	5.03e-05	7.854e-05	0	0	0	0.0003	0.0003	9.81e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.694e-05	0.0002	0.0001	0.0001	0	6.533e-05	0	0	0	0	0.0003	0	0	0.0	0.91255	D	0.0	0.92824	D	0.925	0.51395	P	0.588	0.50402	P	0.000034	0.55875	D	0.065697	0.996426	0.43196	D	2.52	0.73523	M	-0.5	0.70480	T	-6.28	0.91609	D	0.475	0.52918	-0.2788	0.75574	T	0.383	0.73936	T	10	0.25140476	0.42480	T	0.40597	0.93497	D	0.360	0.68052	.	.	0.484182897458	0.48051	0.8546160769170664	0.85424	0.138095241347	0.15570	0.272666931152	0.06491	T	0.84806	0.96515	D	-0.177496	0.24109	T	-0.197903	0.54845	T	0.781267642974854	0.45129	D	0.926607	0.73215	D	0.6613996	0.75974	0.5756452	0.75415	0.6613996	0.75975	0.5756452	0.75416	-11.632	0.83012	D	.	.	0.162	0.42563	B	.;.;.;.	.;.;.;.	4.573298	0.72174	25.8	0.99439661307324412	0.64720	0.70941	0.34801	D	AEFBCI	0.519371	0.54468	D	0.262647787944669	0.54269	3.592732	0.199805873095162	0.49835	3.182229	0.0161814493112688	0.12801	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.92	2.98	0.33575	1.825000	0.38720	6.382000	0.55543	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0969:0.0:0.7259:0.1772	7.259	0.25366	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	0.002035	0.000000	0.002732	0.000000	0.000000	0.000000	0.003125	0.000000	0.02632	1080.33	34	chr11	2415956	.	G	A	1080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.734;DP=713;ExcessHet=0;FS=0.864;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.565;SOR=0.638	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1094,0,732	18	0	1	0
chr11	4605296	4605296	C	T	exonic	TRIM68	.	nonsynonymous SNV	TRIM68:NM_018073:exon2:c.G209A:p.R70Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	3935672	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.362	0.231833780828	.	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs750120044	4.583e-05	4.583e-05	3.811e-05	5.363e-05	9.275e-05	3.661e-05	3.347e-05	4.578e-05	3.272e-05	0	0	0	0	3.744e-05	0	4.317e-05	0.0001	9.275e-05	3.942e-05	3.94e-05	5.138e-05	2.69e-05	8.818e-05	1.715e-05	1.129e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.818e-05	0	0	0.0	0.91255	D	0.006	0.70582	D	0.627	0.90584	P	0.087	0.86255	B	0.025920	0.26008	N	0.182208	1	0.08975	N	2.265	0.64440	M	-1.88	0.84487	D	-3.42	0.67241	D	0.334	0.37509	-0.1336	0.79317	T	0.690	0.89290	D	10	0.24407592	0.41633	T	0.231834	0.88294	D	0.362	0.68230	.	.	0.852539150488	0.85112	0.355579484717085	0.35471	0.48101912929	0.47108	0.600559592247	0.52983	T	0.250293	0.62037	T	-0.139573	0.29959	T	-0.235609	0.51227	T	0.570689141750336	0.35261	D	0.884312	0.68110	D	0.51695347	0.68084	0.46155044	0.68732	0.51695347	0.68085	0.46155044	0.68732	-5.204	0.38982	T	.	.	0.221	0.45605	B	.;.	.;.	2.814739	0.37065	20.4	0.99934239429048266	0.99535	0.12307	0.17188	N	AEFDBI	0.071779	0.14302	N	0.0308383457331289	0.43262	2.622584	-0.061358014127814	0.37003	2.160772	0.498691919029974	0.20924	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.7	3.78	0.42629	1.609000	0.36469	.	.	0.513000	0.23382	0.002000	0.15269	0.079000	0.22353	0.932000	0.46971	0.0:0.9012:0.0:0.0988	10.228	0.42415	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2843.33	33	chr11	4605296	.	C	T	2843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=812;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-1.316;SOR=0.688	GT:AD:DP:GQ:PL	0/1:81,111:192:99:2857,0,1844	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|1:132,27:159:79:0|1:5351789_C_G:79,0,4504:5351789	5	0	9	5
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|1:141,22:163:38:0|1:6200107_C_G:38,0,5547:6200107	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|1:141,22:163:38:0|1:6200107_C_G:38,0,5547:6200107	10	0	9	0
chr11	7000143	7000143	G	A	exonic	ZNF214	.	nonsynonymous SNV	ZNF214:NM_001354832:exon3:c.C1540T:p.L514F,ZNF214:NM_001354833:exon3:c.C1498T:p.L500F,ZNF214:NM_013249:exon3:c.C1540T:p.L514F,ZNF214:NM_001354830:exon4:c.C1573T:p.L525F,ZNF214:NM_001354831:exon4:c.C1540T:p.L514F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0021	0.0145767	0.0185	0.0026	0.1870	0	0	0.0011	0.0011	0.0003	0.0173866	2688	154602	rs143981854	0.0062	0.0062	0.0071	0.0053	0.1599	0.0061	0.0061	0.1568	0.1555	0.0016	0.1599	0	2.52e-05	0	0.0002	0.0015	0.0039	0.0002	0.0094	0.0094	0.0082	0.0105	0.0795	0.0089	0.0088	0.0758	0.0743	0.0022	0	0.0795	0	0	0	0	0.0013	0.0114	0.0008	0.03	0.45393	D	0.705	0.05622	T	0.977	0.58535	D	0.796	0.58006	P	0.001113	0.40219	N	0.000000	0.993727	0.23659	N	1.34	0.33385	L	0.55	0.54728	T	-1.23	0.31170	N	0.044	0.01658	-1.1420	0.01285	T	0.015	0.06186	T	10	0.0015434623	0.00017	T	.	.	.	0.099	0.28413	.	.	.	.	0.028192323402939395	0.02769	0.182118499786	0.20472	0.472878575325	0.35075	T	0.003274	0.02677	T	-0.597841	0.00150	T	-0.487714	0.23630	T	0.0311852882325793	0.02175	T	0.150185	0.01264	T	0.12383201	0.29069	0.1112637	0.26837	0.12383201	0.29069	0.1112637	0.26836	-6.504	0.50317	T	.	.	0.392	0.59898	A	.;.	.;.	3.190740	0.43354	21.7	0.99593181939471376	0.73748	0.21658	0.21479	N	AEFBI	0.282900	0.39612	N	0.167717525912113	0.49653	3.163369	0.0904108378893597	0.44065	2.695508	0.991302073351833	0.32442	0.638212	0.43195	0	0.486142	0.07564	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	3.74	3.74	0.42108	-0.026000	0.12340	2.271000	0.31831	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.2152:0.7848:0.0	9.537	0.38394	809	0.43032	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1488.33	34	chr11	7000143	.	G	A	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.747;DP=725;ExcessHet=0;FS=4.672;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.613;SOR=0.363	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1502,0,1564	18	0	1	0
chr11	7038843	7038843	A	T	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon2:c.A257T:p.D86V	.	414	1102	6	0	0	6	0.00271493	.	.	.	967232	Spermatogenic_Failure	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.214	.	.	0.00359425	0.0019	0	8.697e-05	0.0001	0	1.511e-05	0.0022	0.0136	0.0016106	249	154602	rs199735773	0.0008	0.0008	0.0004	0.0013	0.0135	0.0008	0.0008	0.0129	0.0126	0	2.239e-05	0	0	0	0.0005	5.396e-06	0.0008	0.0135	0.0005	0.0005	0.0002	0.0009	0.0162	0.0004	0.0004	0.0133	0.0122	4.813e-05	0	0	0	0	0	0	1.47e-05	0	0.0162	0.01	0.56456	D	0.007	0.69154	D	0.077	0.24313	B	0.166	0.35067	B	0.624348	0.10747	N	0.800601	0.962829	0.26050	N	2.4	0.69460	M	0.58	0.54149	T	-4.8	0.80682	D	0.478	0.51315	-0.8146	0.54269	T	0.145	0.46823	T	10	0.014527857	0.00305	T	.	.	.	0.214	0.50650	0.847	0.95025	0.473695954338	0.46998	0.49120252611449466	0.49041	0.0990005738812	0.11188	0.283036649227	0.07919	T	0.13774	0.47085	T	-0.321095	0.06809	T	-0.222976	0.52448	T	0.0908244387535409	0.11315	T	0.609739	0.23084	T	0.37028205	0.58606	0.2824636	0.54234	0.37028205	0.58606	0.2824636	0.54233	-6.95	0.53668	T	.	.	0.102	0.17995	B	.	.	2.456450	0.31638	18.80	0.97928934410400159	0.36942	0.04623	0.10286	N	AEFI	0.088502	0.17942	N	-1.04170025797449	0.07751	0.3611228	-1.21391304428005	0.05686	0.2716073	2.00643768064026E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.08	-4.67	0.03080	1.442000	0.34656	1.438000	0.26503	-0.050000	0.17177	0.002000	0.15269	0.003000	0.18671	0.254000	0.23365	0.2693:0.1568:0.4206:0.1533	2.302	0.03911	687	0.59234	DAPIN domain|DAPIN domain|DAPIN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1428.33	40	chr11	7038843	.	A	T	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=1000;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-0.671;SOR=0.583	GT:AD:DP:GQ:PL	0/1:102,63:165:99:1442,0,2556	18	0	1	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	21836.4	77	chr11	12294842	.	A	*	21836.4	.	AC=2;AF=0.059;AN=34;BaseQRankSum=2.54;DP=1679;ExcessHet=0.0541;FS=3.862;InbreedingCoeff=0.2629;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=1.31;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,7:73:76:1|0:12294839_CCTA_C:3082,2221,2465:12294839	15	0	2	2
chr11	14259441	14259443	GAG	-	exonic	SPON1	.	nonframeshift deletion	SPON1:NM_006108:exon12:c.1654_1656del:p.E553del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1946.29	35	chr11	14259440	.	CGAG	C	1946.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=762;ExcessHet=0;FS=8.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-2.332;SOR=1.26	GT:AD:DP:GQ:PL	0/1:78,53:131:99:1960,0,3097	18	0	1	0
chr11	18718722	18718722	G	A	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon8:c.C703T:p.R235W	.	429	1092	1	0	0	1	0.000457666	.	.	.	3274616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0363159490856	0.0006	0.000599042	0.0007	0	0.0004	0	0	0.0011	0	6.693e-05	0.0007827	121	154602	rs201466035	0.0014	0.0014	0.0015	0.0013	0.0017	0.0013	0.0013	0.0017	0.0016	0.0002	0.0005	0	0	7.492e-05	0.0007	0.0017	0.0008	0.0001	0.0008	0.0008	0.0010	0.0005	0.0015	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0005	0	0	0	0	0.0015	0.0005	0	0.066	0.36113	T	0.114	0.36765	T	.	.	.	.	.	.	0.073144	0.21364	U	0.237042	1	0.08975	N	.	.	.	0.61	0.53516	T	-3.63	0.69714	D	0.287	0.32481	-0.9177	0.45864	T	0.191	0.54286	T	10	0.023154378	0.00598	T	0.036316	0.56913	D	0.146	0.38789	.	.	0.502443086328	0.49881	0.3024133076887293	0.30154	0.706987716141	0.61471	0.276000022888	0.06940	T	.	.	.	-0.443526	0.01233	T	-0.407536	0.32509	T	0.0720281867255551	0.08934	T	0.824218	0.48580	T	.	.	.	.	.	.	.	.	-9.231	0.69172	D	.	.	0.547	0.66670	A	.	.	2.958436	0.39386	21.0	0.997923491844244	0.87839	0.06633	0.12650	N	AEFBI	0.270426	0.38649	N	-0.172799429620857	0.34271	1.954081	-0.323767700222561	0.27334	1.51595	1.23087977154814E-5	0.02871	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.16	-0.237	0.12417	0.232000	0.17670	0.823000	0.21872	-0.244000	0.07312	0.230000	0.24643	0.671000	0.26067	0.995000	0.73285	0.2457:0.0:0.3295:0.4248	3.840	0.08422	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	792.33	35	chr11	18718722	.	G	A	792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=704;ExcessHet=0;FS=2.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.578;SOR=0.968	GT:AD:DP:GQ:PL	0/1:34,32:66:99:806,0,746	18	0	1	0
chr11	20392933	20392933	C	G	exonic	PRMT3	.	nonsynonymous SNV	PRMT3:NM_001145166:exon3:c.C148G:p.P50A,PRMT3:NM_001145167:exon4:c.C103G:p.P35A,PRMT3:NM_005788:exon5:c.C334G:p.P112A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0119585477478	.	0.000998403	0.0006	9.612e-05	0	0.0001	0	0	0	0.0043	0.0005239	81	154602	rs534730953	0.0003	0.0003	0.0001	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	2.524e-05	0	0	0	0.0001	0.0044	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	0.0001	0.0034	0.0029	0	0	0	0	0	0	0	1.471e-05	0.0005	0.0050	0.291	0.37118	T	0.32	0.25987	T	0.2	0.56768	B	0.129	0.58006	B	0.002693	0.36102	N	0.265651	1	0.81001	D	1.605	0.40863	L	1.03	0.40469	T	-2.45	0.53577	N	0.317	0.37717	-0.9779	0.35481	T	0.182	0.52980	T	10	0.007519841	0.00171	T	0.011959	0.30096	T	0.147	0.38986	0.353	0.35246	0.748258088811	0.74598	0.24752628842280425	0.24666	0.112548950937	0.12707	0.517473816872	0.41271	T	0.233448	0.60025	T	-0.293803	0.09258	T	-0.1944	0.55176	T	0.0813290418041614	0.10157	T	0.835916	0.54393	T	0.09702844	0.22865	0.16534849	0.38257	0.09702844	0.22865	0.16534849	0.38256	-3.174	0.12250	T	.	.	0.078	0.14568	B	.;.	.;.	3.415879	0.47403	22.5	0.994104423857608	0.63263	0.98292	0.81328	D	AEFBI	0.377445	0.46121	N	0.276713306121948	0.54969	3.661563	0.37533442780586	0.60048	4.18824	0.999858960114573	0.44174	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.59	5.59	0.84677	2.814000	0.47709	4.900000	0.45850	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.542	0.95271	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	856.33	33	chr11	20392933	.	C	G	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.112;DP=675;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.528;SOR=0.85	GT:AD:DP:GQ:PL	0/1:26,39:65:99:870,0,646	18	0	1	0
chr11	32616005	32616005	T	G	exonic	CCDC73	.	nonsynonymous SNV	CCDC73:NM_001008391:exon15:c.A1310C:p.D437A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0052681080442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.731	0.05146	T	0.728	0.42542	P	0.297	0.40924	B	0.216093	0.16249	N	0.607040	1	0.08975	N	2.175	0.60977	M	.	.	.	-1.58	0.38151	N	0.357	0.39861	-0.9969	0.30783	T	0.111	0.39959	T	9	0.10093087	0.18411	T	0.005268	0.13464	T	0.063	0.18251	0.14	0.04369	0.0986583533028	0.09354	0.19678037070137502	0.19595	0.53341979916	0.50776	0.347976446152	0.17624	T	0.016255	0.13471	T	-0.101719	0.36141	T	-0.383889	0.35267	T	0.585413098335266	0.35827	D	0.561544	0.19673	T	0.1300184	0.30350	0.108368926	0.26103	0.1300184	0.30350	0.108368926	0.26102	-3.994	0.23714	T	.	.	0.112	0.21803	B	.	.	2.875723	0.38040	20.6	0.98817840577052063	0.46736	0.07056	0.13083	N	AEFI	0.103492	0.20733	N	-0.21873479536692	0.32365	1.824492	-0.302326071848357	0.28025	1.559297	0.035452718335309	0.14201	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.14	3.93	0.44666	1.100000	0.30637	1.516000	0.27058	0.609000	0.47794	0.006000	0.17386	0.023000	0.20922	0.765000	0.36330	0.0:0.0:0.1946:0.8054	8.578	0.32772	372	0.84213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	478.33	33	chr11	32616005	.	T	G	478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.184;DP=666;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-1.571;SOR=0.483	GT:AD:DP:GQ:PL	0/1:32,23:55:99:492,0,748	18	0	1	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	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	.	.	.	.	.	.	.	.	0.02778	306.71	34	chr11	33085948	.	G	A	306.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.662;DP=1060;ExcessHet=0;FS=62.787;InbreedingCoeff=-0.0413;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=1.92;SOR=5.13	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,12:56:99:0|1:33085948_G_A:320,0,1675:33085948	17	0	1	1
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|1:46,13:59:99:0|1:33085948_G_A:322,0,1722:33085948	4	0	5	10
chr11	43443462	43443462	A	G	exonic	TTC17	.	nonsynonymous SNV	TTC17:NM_001376528:exon13:c.A1891G:p.M631V,TTC17:NM_001376527:exon14:c.A1975G:p.M659V,TTC17:NM_001376526:exon16:c.A2299G:p.M767V,TTC17:NM_018259:exon17:c.A2389G:p.M797V,TTC17:NM_001307943:exon18:c.A2560G:p.M854V,TTC17:NM_001376525:exon18:c.A2560G:p.M854V	.	430	1091	1	0	0	1	0.000458085	.	.	.	2380660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00439346053492	7.7e-05	.	6.594e-05	0	8.663e-05	0	0	0.0001	0	0	5.17e-05	8	154602	rs146876466	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	9.833e-05	0.0007	0.0005	0	0.0002	0.0004	0	3.744e-05	0.0014	0.0001	9.935e-05	0	0.0001	0.0001	0.0002	0.0001	0.0002	9.748e-05	8.262e-05	0.0002	0.0001	2.414e-05	0	0	0.0009	0	0	0	0.0002	0	0.0002	0.405	0.12754	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000457	0.44317	N	0.258210	0.757955	0.29569	N	-0.55	0.02420	N	1.9	0.23688	T	-0.75	0.21003	N	0.201	0.22228	-0.9948	0.31352	T	0.018	0.07706	T	10	0.024306387	0.00664	T	0.004393	0.10718	T	0.065	0.18881	.	.	0.102598925029	0.09809	0.3714246848491878	0.37056	0.20180106585	0.22587	0.509101271629	0.40096	T	0.012883	0.11245	T	-0.484535	0.00696	T	-0.627801	0.10582	T	0.0500682194826158	0.05513	T	0.831917	0.51841	T	0.039969068	0.05618	0.056206163	0.09999	0.039969068	0.05618	0.056206163	0.09999	-2.481	0.06443	T	.	.	0.170	0.37388	B	.;.	.;.	1.553914	0.19911	14.50	0.89924637808238295	0.19223	0.67041	0.33290	D	AEFBI	0.077570	0.15632	N	-0.561957155001568	0.20110	1.057743	-0.313918421248762	0.27649	1.535694	7.00006841664874E-4	0.07645	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	3.3	0.36912	3.354000	0.51970	5.440000	0.48617	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.4177:0.2582:0.3241:0.0	2.822	0.05138	356	0.85138	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	994.33	37	chr11	43443462	.	A	G	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.901;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.43;SOR=0.622	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1008,0,1176	18	0	1	0
chr11	47582437	47582437	G	A	exonic	NDUFS3	.	nonsynonymous SNV	NDUFS3:NM_004551:exon6:c.G596A:p.R199Q	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1517	5	0	0	5	0.00164528	.	.	YES	513602	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.898	0.321702672537	.	.	4.118e-05	0	8.637e-05	0.0001	0	0	0	0.0002	3.23e-05	5	154602	rs771783839	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0004	4.059e-05	3.734e-05	0.0003	0.0002	2.987e-05	6.708e-05	0	5.038e-05	0	0.0002	2.518e-05	8.28e-05	0.0004	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	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.745	0.99558	H	-3.25	0.93532	D	-3.74	0.71042	D	0.979	0.98929	1.082	0.98934	D	0.947	0.98280	D	10	0.9873537	0.99097	D	0.321703	0.91493	D	0.898	0.97135	0.942	0.99232	0.999745636659	0.99974	0.898359588866317	0.89806	1.09733963927	0.77622	0.80695271492	0.83024	D	0.766605	0.93720	D	0.323241	0.84702	D	0.486216	0.94316	D	0.94035416841507	0.61262	D	.	.	.	0.85096586	0.87407	0.75389916	0.85455	0.8621162	0.88249	0.77287805	0.86595	-12.259	0.86089	D	.	.	0.956	0.87520	P	.	.	6.096395	0.94551	34	0.99953904631919543	0.99963	0.97640	0.76089	D	AEFDBCI	0.951533	0.96618	D	1.16896347268934	0.99214	21.26115	1.08148840886981	0.99675	25.09818	1.0	0.98316	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	9.585000	0.97377	11.859000	0.98275	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.206	0.98279	10	0.99061	NADH:ubiquinone oxidoreductase, 30kDa subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1855.33	33	chr11	47582437	.	G	A	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.45;DP=793;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.477;SOR=0.765	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1869,0,1892	18	0	1	0
chr11	56094047	56094047	T	C	exonic	OR8I2	.	nonsynonymous SNV	OR8I2:NM_001003750:exon1:c.T740C:p.V247A	.	434	1073	14	1	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00231502443141	0.0041	0.00219649	0.0043	0.0007	0.0026	0	0.0009	0.0055	0.0066	0.0065	0.0042561	658	154602	rs151296695	0.0047	0.0047	0.0046	0.0047	0.0097	0.0046	0.0046	0.0077	0.0069	0.0008	0.0031	0.0018	2.519e-05	0.0009	0.0097	0.0051	0.0042	0.0076	0.0033	0.0033	0.0034	0.0031	0.0052	0.0030	0.0029	0.0048	0.0046	0.0012	0	0.0025	0.0017	0.0002	0.0008	0.0068	0.0052	0.0047	0.0050	0.0	0.91255	D	0.007	0.69154	D	0.643	0.40492	P	0.245	0.38823	B	0.002581	0.36316	U	0.000000	1	0.08975	N	2.805	0.81760	M	7.84	0.00333	T	-3.87	0.72594	D	0.434	0.47301	-1.0072	0.27789	T	0.001	0.00348	T	10	0.007757008	0.00176	T	0.002315	0.04452	T	0.106	0.30130	.	.	0.274366138417	0.27033	0.13537815109154866	0.13461	0.0517617221717	0.05696	0.271994501352	0.06403	T	0.007475	0.06883	T	-0.436324	0.01359	T	-0.392987	0.34203	T	0.0818030910219607	0.10217	T	0.553945	0.19167	T	0.5244278	0.68513	0.5248171	0.72546	0.5244278	0.68514	0.5248171	0.72546	-8.431	0.63971	D	.	.	0.202	0.42678	B	.	.	3.226413	0.43984	21.8	0.98384828810045222	0.40894	0.37013	0.25665	N	AEFGI	0.074436	0.14919	N	-0.181636130068989	0.33899	1.929	-0.332902842527322	0.27043	1.497869	2.20811583155592E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	3.16	0.35406	3.717000	0.54640	.	.	0.574000	0.29054	0.938000	0.32564	0.433000	0.24865	0.004000	0.06068	0.0:0.0:0.1633:0.8367	10.495	0.43959	152	0.94023	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	0.011078	0.000000	0.006793	0.026316	0.000000	0.017241	0.018293	0.007576	0.02632	1778.33	45	chr11	56094047	.	T	C	1778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.42;DP=1177;ExcessHet=0;FS=6.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.637;SOR=0.36	GT:AD:DP:GQ:PL	0/1:75,63:138:99:1792,0,2091	18	0	1	0
chr11	56413175	56413175	T	C	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3370.33	246	chr11	56413175	.	T	C	3370.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=3762;ExcessHet=0;FS=2.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=2.71;SOR=0.53	GT:AD:DP:GQ:PL	0/1:111,123:234:99:3384,0,2874	18	0	1	0
chr11	56470428	56470428	G	A	exonic	OR5M3	.	nonsynonymous SNV	OR5M3:NM_001004742:exon1:c.C70T:p.L24F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0118011635204	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868139264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.759	0.04652	T	0.006	0.13644	B	0.019	0.18783	B	0.041067	0.23989	N	0.207538	1	0.08975	N	0.41	0.12415	N	6.05	0.00594	T	-1.67	0.39887	N	0.028	0.00618	-0.9154	0.46168	T	0.002	0.00646	T	10	0.08831209	0.15195	T	0.011801	0.29782	T	0.024	0.04979	0.291	0.25241	0.0401082797425	0.02173	0.3697946212708004	0.36893	0.0585039543478	0.06489	0.234922707081	0.02352	T	0.014428	0.12283	T	-0.359469	0.04159	T	-0.754129	0.03327	T	0.0992590303133529	0.12276	T	0.0547945	0.00535	T	0.087944575	0.20498	0.08438664	0.19409	0.087944575	0.20498	0.08438664	0.19409	-5.113	0.38044	T	.	.	0.111	0.30660	B	.;.;.;.	.;.;.;.	0.306283	0.06816	3.341	0.95697264956466888	0.27585	0.02522	0.07026	N	AEFI	0.050993	0.08966	N	-1.07631083131315	0.07082	0.3279417	-1.14680333401713	0.06825	0.3298722	1.54720348038492E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	-3.38	0.04577	-1.952000	0.01618	.	.	0.465000	0.21702	0.000000	0.06391	0.000000	0.08366	0.265000	0.23644	0.0683:0.5731:0.2614:0.0972	10.216	0.42347	247	0.90334	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	184.21	38	chr11	56470428	.	G	A	184.21	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.587;DP=1761;ExcessHet=0;FS=140.283;InbreedingCoeff=-0.0615;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.99;SOR=7.923	GT:AD:DP:GQ:PL	0/1:93,25:118:99:197,0,2013	16	0	1	2
chr11	57476823	57476823	C	T	exonic	RTN4RL2	.	nonsynonymous SNV	RTN4RL2:NM_178570:exon3:c.C1175T:p.A392V	.	396	1108	17	1	0	19	0.00850112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0031	0.00479233	0.0086	0.0014	0.0142	0	0.0255	0.0072	0.02	0.0127	0.0002305	6	26028	rs141304388	0.0063	0.0064	0.0060	0.0065	0.0114	0.0061	0.0061	0.0107	0.0105	0.0007	0.0114	0.0026	0	0.0231	0.0058	0.0054	0.0071	0.0113	0.0066	0.0066	0.0054	0.0078	0.0104	0.0063	0.0061	0.0091	0.0086	0.0013	0.0329	0.0104	0.0037	0.0006	0.0274	0.0068	0.0058	0.0038	0.0097	0.011	0.55530	D	0.328	0.18675	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	0.25	0.59449	T	-1.28	0.32185	N	0.125	0.11769	-1.0431	0.16383	T	0.071	0.29034	T	9	0.0023450553	0.00035	T	.	.	.	0.014	0.01968	.	.	0.416446257289	0.41261	0.26049700544724286	0.25963	1.06338473455	0.76549	0.735802829266	0.72355	T	0.098477	0.40233	T	-0.495055	0.00609	T	-0.472858	0.25209	T	0.0094299413240383	0.00121	T	0.580242	0.20999	T	0.150981	0.34345	0.21442443	0.45992	0.150981	0.34345	0.21442443	0.45991	-4.629	0.32534	T	.	.	0.066	0.02065	B	.	.	1.751098	0.22276	15.55	0.97470050534828734	0.34131	0.01686	0.05377	N	ALL	0.040239	0.05956	N	-0.862290915450808	0.11748	0.5687231	-0.821535014336905	0.13974	0.7277858	0.999999998838283	0.74766	0.766844	0.99359	0	0.218748	0.04544	0	0.851219	0.99655	0	0.56751	0.32155	0	.	.	2.73	1.8	0.24069	0.032000	0.13620	0.301000	0.16978	0.446000	0.21189	0.000000	0.06391	0.917000	0.28245	0.911000	0.44643	0.0:0.8737:0.0:0.1263	8.397	0.31727	71	0.96981	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.001359	0.002924	0.000000	0.008621	0.021341	0.007576	0.05263	2488.83	37	chr11	57476823	.	C	T	2488.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.601;DP=872;ExcessHet=0.119;FS=2.573;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.652;SOR=0.515	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1245,0,886	17	0	2	0
chr11	57796896	57796896	G	A	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon3:c.G557A:p.R186H,CTNND1:NM_001085463:exon4:c.G557A:p.R186H,CTNND1:NM_001085464:exon4:c.G557A:p.R186H,CTNND1:NM_001085465:exon4:c.G557A:p.R186H,CTNND1:NM_001085466:exon4:c.G557A:p.R186H,CTNND1:NM_001085467:exon4:c.G557A:p.R186H,CTNND1:NM_001085468:exon4:c.G557A:p.R186H,CTNND1:NM_001206890:exon4:c.G557A:p.R186H,CTNND1:NM_001085462:exon5:c.G860A:p.R287H,CTNND1:NM_001206883:exon5:c.G698A:p.R233H,CTNND1:NM_001206884:exon5:c.G698A:p.R233H,CTNND1:NM_001206886:exon5:c.G698A:p.R233H,CTNND1:NM_001206887:exon5:c.G698A:p.R233H,CTNND1:NM_001206888:exon5:c.G698A:p.R233H,CTNND1:NM_001085458:exon6:c.G860A:p.R287H,CTNND1:NM_001085459:exon6:c.G860A:p.R287H,CTNND1:NM_001085460:exon6:c.G860A:p.R287H,CTNND1:NM_001085461:exon6:c.G860A:p.R287H,CTNND1:NM_001206885:exon6:c.G860A:p.R287H,CTNND1:NM_001206889:exon6:c.G698A:p.R233H,CTNND1:NM_001206891:exon6:c.G698A:p.R233H,CTNND1:NM_001331:exon6:c.G860A:p.R287H	.	421	1072	28	1	0	30	0.0137994	.	.	.	3207144	CTNND1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.526	.	0.0002	0.00239617	0.0016	0.0001	0.0007	0.0001	0	0.0005	0.0024	0.0109	0.0013583	210	154602	rs200914456	0.0009	0.0010	0.0006	0.0013	0.0105	0.0009	0.0009	0.0099	0.0097	6.005e-05	0.0005	0.0042	0	0	0.0056	0.0002	0.0014	0.0105	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	9.621e-05	0	6.537e-05	0.0023	0.0002	0	0	0.0002	0.0005	0.0120	0.001	0.91255	D	0.127	0.92824	T	0.997	0.90584	D	0.884	0.88582	P	0.000000	0.84330	D	0.049271	0.999999	0.81001	D	2.305	0.65957	M	-1.36	0.83327	T	-2.12	0.71882	N	0.652	0.77601	0.450	0.89840	D	0.705	0.89849	D	10	0.008713067	0.00197	T	.	.	.	0.526	0.79947	.	.	0.893469137683	0.89241	0.7538686209710876	0.75333	1.21594706112	0.80967	0.727611362934	0.71158	T	0.036562	0.73026	T	0.0189001	0.54234	T	0.262334	0.86201	D	0.0432667433749685	0.04286	T	0.963804	0.88413	D	0.3429911	0.56517	0.32258293	0.58197	0.3187861	0.54537	0.37006184	0.62263	-3.71	0.26795	T	.	.	0.500	0.64763	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.411063	0.90574	31	0.99957276297572628	0.99981	0.99859	0.99866	D	AEFDBI	0.953844	0.97048	D	0.895609814481584	0.91543	10.93695	0.903831306916432	0.95736	13.91645	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.099000	0.93565	8.635000	0.77869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.928	0.97108	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.007576	0.07895	4635.79	37	chr11	57796896	.	G	A	4635.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.504;DP=989;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.731;SOR=0.7	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1451,0,1646	16	0	3	0
chr11	58267476	58267476	G	A	exonic	OR10W1	.	nonsynonymous SNV	OR10W1:NM_207374:exon1:c.C383T:p.T128I	.	427	1079	13	3	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0002	0.0183706	0.0107	0.0002	0.0008	0.0004	0	3.025e-05	0.0101	0.0769	0.0091719	1418	154602	rs200833145	0.0047	0.0047	0.0024	0.0069	0.0751	0.0046	0.0045	0.0736	0.0729	0.0002	6.712e-05	0	5.045e-05	0	0.0035	2.608e-05	0.0046	0.0751	0.0026	0.0026	0.0013	0.0039	0.0766	0.0023	0.0023	0.0701	0.0676	0.0003	0	6.532e-05	0	0.0004	0	0	4.409e-05	0.0009	0.0766	0.005	0.63226	D	0.016	0.60972	D	0.981	0.59675	D	0.708	0.54437	P	0.002641	0.36208	N	0.125321	0.917861	0.27362	N	2.945	0.84822	M	6.78	0.00490	T	-4.25	0.76094	D	0.297	0.33578	-1.0559	0.12803	T	0.004	0.01400	T	10	0.002395302	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.49150466261061965	0.49071	0.174593514633	0.19662	0.302266150713	0.10739	T	0.028591	0.20678	T	-0.501515	0.00561	T	-0.435641	0.29297	T	0.0913901125791992	0.11382	T	0.732227	0.34774	T	0.5716251	0.71150	0.54522276	0.73712	0.5716251	0.71151	0.54522276	0.73713	-8.308	0.63149	D	.	.	0.296	0.52696	B	.	.	3.101195	0.41791	21.4	0.99827754227103138	0.91026	0.90528	0.51778	D	AEFGI	0.273053	0.38855	N	0.286629345381957	0.55468	3.711056	0.159904920510697	0.47669	2.993664	1.71151944038902E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	3.81	0.43020	1.637000	0.36769	3.840000	0.40037	0.676000	0.76740	0.556000	0.27393	1.000000	0.68203	0.533000	0.29776	0.0:0.1371:0.5803:0.2827	9.591	0.38708	285	0.88719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.037879	0.02632	1749.33	43	chr11	58267476	.	G	A	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.2;DP=894;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-1.228;SOR=0.627	GT:AD:DP:GQ:PL	0/1:90,65:155:99:1763,0,2401	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	0/1:63,17:80:99:.:.:135,0,1419:.	2	0	17	0
chr11	62518099	62518099	C	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G16318A:p.V5440M,AHNAK:NM_001346446:exon5:c.G16318A:p.V5440M,AHNAK:NM_001620:exon5:c.G16318A:p.V5440M	.	429	1090	3	0	0	3	0.00137426	.	.	.	701836	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	0.189730404579	0.0044	0.00159744	0.0042	0.0006	0.0024	0	0.0020	0.0061	0.0033	0.0034	0.0045601	705	154602	rs112663036	0.0067	0.0067	0.0070	0.0064	0.0081	0.0066	0.0065	0.0079	0.0079	0.0010	0.0028	0.0008	0	0.0014	0.0007	0.0081	0.0055	0.0028	0.0041	0.0041	0.0046	0.0037	0.0075	0.0039	0.0038	0.0070	0.0068	0.0012	0	0.0025	0.0003	0	0.0009	0.0034	0.0075	0.0043	0.0019	0.143	0.25355	T	0.009	0.66756	D	0.849	0.46879	P	0.455	0.46267	P	0.002803	0.35900	U	0.000000	0.973987	0.81001	D	0.365	0.12025	N	6.37	0.00546	T	-1.08	0.28084	N	0.2	0.22098	-0.0719	0.80737	T	0.002	0.00526	T	10	0.004359871	0.00089	T	0.18973	0.86081	D	0.122	0.33800	.	.	0.0846915920261	0.08053	0.06784116973590433	0.06722	0.0305201724853	0.03155	0.372590154409	0.21203	T	0.126861	0.45352	T	-0.536967	0.00349	T	-0.537412	0.18551	T	0.0213561442317111	0.00838	T	0.633437	0.24778	T	0.09994601	0.23594	0.07327373	0.15904	0.09994601	0.23594	0.07327373	0.15904	-5.933	0.45716	T	.	.	0.138	0.30264	B	.	.	1.190171	0.15813	12.12	0.99328261477905277	0.59661	0.49611	0.28473	N	AEFBI	.	.	.	-0.27926495474594	0.29950	1.665504	-0.315401114011253	0.27600	1.532709	0.99992931829438	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.63	3.71	0.41733	0.060000	0.14220	.	.	0.479000	0.22080	0.002000	0.15269	0.000000	0.08366	0.661000	0.32996	0.1743:0.8257:0.0:0.0	11.979	0.52398	217	0.91564	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2021.33	34	chr11	62518099	.	C	T	2021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.044;DP=1121;ExcessHet=0;FS=9.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-2.376;SOR=1.288	GT:AD:DP:GQ:PL	0/1:95,77:172:99:2035,0,2513	18	0	1	0
chr11	63290374	63290374	A	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.A209T:p.D70V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.022262148399	.	.	2.477e-05	0	8.717e-05	0	0	0	0.0011	6.065e-05	1.94e-05	3	154602	rs75844061	9.579e-06	9.577e-06	2.723e-06	1.65e-05	0.0002	5.56e-06	4.35e-06	9.793e-05	7.84e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.987	0.61912	D	0.795	0.57940	P	0.535371	0.11593	U	0.712094	1	0.18198	N	3.35	0.91085	M	1.22	0.68474	T	-8.29	0.96961	D	0.401	0.58543	-0.6218	0.63914	T	0.421	0.76630	T	10	0.43139446	0.57514	T	0.022262	0.45130	T	0.160	0.41473	0.581	0.70733	0.533567079455	0.53006	0.5757976190046665	0.57508	0.0805659542644	0.09068	0.418315649033	0.27606	T	0.03203	0.22308	T	-0.134669	0.30744	T	-0.22762	0.52001	T	0.559951167276869	0.34853	D	0.944805	0.85148	D	0.5577485	0.70385	0.41507375	0.65632	0.5577485	0.70386	0.41507375	0.65632	-10.009	0.73966	D	.	.	0.147	0.36633	B	.;.	.;.	2.438722	0.31384	18.73	0.97710931736628392	0.35495	0.08138	0.14103	N	AEFBCI	0.207733	0.33388	N	-0.0813972034827392	0.38209	2.234348	-0.350105473922973	0.26505	1.464484	0.780996786943291	0.23842	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	1.6	0.22686	1.562000	0.35961	3.381000	0.38003	0.518000	0.23583	0.052000	0.21487	0.463000	0.25012	0.129000	0.19529	0.7773:0.2227:0.0:0.0	7.248	0.25310	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2631.33	97	chr11	63290374	.	A	T	2631.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.739;DP=1658;ExcessHet=0;FS=2.338;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.31;SOR=0.547	GT:AD:DP:GQ:PL	0/1:117,106:223:99:2645,0,3013	18	0	1	0
chr11	65110595	65110595	T	A	exonic	VPS51	.	stopgain	VPS51:NM_013265:exon8:c.T1992A:p.Y664X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	.	.	2.473e-05	0	8.64e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs779385045	8.209e-06	8.209e-06	1.361e-06	1.513e-05	0.0001	4.38e-06	3.46e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.062106	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.392	0.43320	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418859	0.90961	D	0.566539	0.96104	D	0.996747374534607	0.89989	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.181941	0.96238	35	0.99337241637852836	0.60012	0.27888	0.23402	N	AEFDGBHCI	0.492994	0.52940	N	0.261526853019907	0.54212	3.587339	0.0206866601607622	0.40677	2.431415	0.999999999999999	0.74766	0.741868	0.97996	0	0.67197	0.64623	0	0.774882	0.98623	0	0.636	0.56748	0	.	.	4.67	-3.06	0.05053	0.350000	0.19818	-1.526000	0.05242	-0.194000	0.09177	0.992000	0.37556	0.000000	0.08366	0.933000	0.47100	0.0:0.8308:0.0:0.1692	15.926	0.79402	371	0.84287	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1824.33	36	chr11	65110595	.	T	A	1824.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.422;DP=791;ExcessHet=0;FS=2.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.842;SOR=0.677	GT:AD:DP:GQ:PL	0/1:80,78:158:99:1838,0,1911	18	0	1	0
chr11	65320962	65320962	C	T	exonic	CDC42EP2	.	nonsynonymous SNV	CDC42EP2:NM_006779:exon2:c.C64T:p.R22W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	.	0.0014	0.000798722	0.0029	0.0003	0.0003	0	0.0163	0.0035	0.0034	0.0004	0.0025614	396	154602	rs148229585	0.0022	0.0022	0.0023	0.0020	0.0020	0.0021	0.0021	0.0019	0.0019	0.0003	0.0007	7.653e-05	2.521e-05	0.0146	0	0.0020	0.0018	0.0003	0.0023	0.0023	0.0017	0.0030	0.0023	0.0021	0.0021	0.0020	0.0019	0.0004	0	0.0004	0	0	0.0162	0	0.0023	0.0005	0.0008	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999944	0.51968	D	2.52	0.73523	M	0.87	0.46412	T	-6.58	0.91956	D	0.889	0.92784	-0.6078	0.64495	T	0.243	0.61177	T	10	0.0115062	0.00251	T	.	.	.	0.331	0.65325	.	.	0.778451135795	0.77641	0.7982432456587572	0.79777	.	.	0.850747466087	0.89727	D	0.472979	0.80503	T	-0.101174	0.36231	T	0.0775913	0.75417	D	0.068069720559718	0.08378	T	0.992101	0.97494	D	0.7310667	0.79783	0.5527528	0.74137	0.7310667	0.79785	0.5527528	0.74137	-9.771	0.72528	D	.	.	0.848	0.79631	P	.;.	.;.	4.113737	0.61430	24.3	0.99924197937817694	0.98980	0.43868	0.27193	N	AEFGBI	0.552184	0.56395	D	0.42403112433526	0.62746	4.495739	0.318290604162541	0.56613	3.825031	0.999988461762415	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	4.12	0.47504	0.030000	0.13576	2.191000	0.31208	0.549000	0.26987	0.003000	0.16062	0.976000	0.30059	0.997000	0.79791	0.3038:0.6962:0.0:0.0	10.955	0.46564	283	0.88803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1299.33	38	chr11	65320962	.	C	T	1299.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.056;DP=731;ExcessHet=0;FS=0.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.144;SOR=0.781	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1313,0,1634	18	0	1	0
chr11	65794103	65794103	C	T	exonic	OVOL1	.	nonsynonymous SNV	OVOL1:NM_004561:exon2:c.C173T:p.P58L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0072	0.00299521	0.0070	0.0019	0.0015	0	0.0209	0.0095	0.0044	0.0024	0.0069469	1074	154602	rs138566993	0.0087	0.0087	0.0089	0.0085	0.0097	0.0086	0.0085	0.0095	0.0095	0.0016	0.0020	0.0070	0	0.0187	0.0012	0.0097	0.0073	0.0022	0.0071	0.0071	0.0068	0.0075	0.0095	0.0068	0.0066	0.0089	0.0086	0.0021	0.0175	0.0039	0.0092	0	0.0210	0	0.0095	0.0033	0.0031	0.23	0.18308	T	0.612	0.07642	T	0.688	0.41582	P	0.06	0.26717	B	0.774250	0.09522	N	0.889866	0.997695	0.81001	D	1.12	0.28775	L	3.05	0.08721	T	-1.76	0.41618	N	0.357	0.39861	-0.8067	0.54748	T	0.009	0.03011	T	10	0.0062689483	0.00141	T	.	.	.	0.086	0.25016	.	.	0.268702046668	0.26493	0.2964091917468648	0.29553	0.723791739799	0.62348	0.475216776133	0.35399	T	0.250052	0.62010	T	-0.537676	0.00346	T	-0.535716	0.18720	T	0.0205320315047869	0.00753	T	0.809319	0.45944	T	0.1111093	0.26259	0.076571114	0.16973	0.1111093	0.26259	0.076571114	0.16973	-5.38	0.40726	T	.	.	0.195	0.41602	B	.	.	2.909202	0.38583	20.8	0.98599190064023634	0.43480	0.34389	0.25055	N	AEFDBI	0.189468	0.31672	N	-0.147318238223708	0.35349	2.029263	-0.0220238939359916	0.38722	2.285467	0.99999150197498	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	4.95	0.64894	1.045000	0.29951	7.653000	0.63809	0.599000	0.40250	0.003000	0.16062	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	13.714	0.62163	248	0.90287	.	.	.	.	.	rs138566993	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1825.33	43	chr11	65794103	.	C	T	1825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.546;DP=862;ExcessHet=0;FS=5.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.582;SOR=0.378	GT:AD:DP:GQ:PL	0/1:55,77:132:99:1839,0,1315	18	0	1	0
chr11	67240254	67240254	C	G	exonic	KDM2A	.	nonsynonymous SNV	KDM2A:NM_001256405:exon1:c.C47G:p.P16R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0901957120249	.	.	9.309e-05	0	0	0	.	0.0004	0	0	6.5e-06	1	154602	rs761347077	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.949e-05	0.0001	0.0001	0	8.404e-05	3.971e-05	0	0	0	0.0001	6.909e-05	1.262e-05	0.0002	0.0002	0.0002	9.421e-05	0.0004	0.0001	8.724e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0.0002	0	0	0.049	0.39820	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.11	0.19860	T	-1.25	0.31576	N	0.25	0.28264	-1.0384	0.17802	T	0.072	0.29130	T	6	0.086135805	0.14613	T	0.090196	0.75472	D	0.033	0.08068	0.367	0.37524	0.165150595986	0.16160	.	.	.	.	.	.	.	.	.	.	-0.475892	0.00782	T	-0.615385	0.11551	T	0.10634433478117	0.13041	T	0.30177	0.05696	T	.	.	.	.	.	.	.	.	-3.362	0.14550	T	.	.	0.092	0.13783	B	.	.	1.243542	0.16394	12.51	0.7053647724602895	0.09328	0.60685	0.31266	D	AEFGBHCIJ	0.068263	0.13457	N	-0.456108381712157	0.23534	1.264443	-0.489045154672409	0.22455	1.219701	0.999999999999404	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.07	-1.21	0.09033	-0.082000	0.11268	0.038000	0.13828	-1.081000	0.01566	0.663000	0.28286	0.456000	0.24978	0.925000	0.46118	0.0:0.481:0.0:0.519	7.619	0.27340	253	0.90069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1084.33	33	chr11	67240254	.	C	G	1084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.986;DP=728;ExcessHet=0;FS=2.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.151;SOR=0.994	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1098,0,1059	18	0	1	0
chr11	74085833	74085833	T	C	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon21:c.A3695G:p.N1232S,C2CD3:NM_015531:exon21:c.A3695G:p.N1232S	.	425	1069	26	2	0	30	0.0138376	.	.	.	237381	C2CD3-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.260	.	0.0062	0.00359425	0.0074	0.0018	0.0025	0.0002	0.0018	0.0090	0.0078	0.0138	0.0071668	1108	154602	rs140307393	0.0081	0.0081	0.0078	0.0084	0.0136	0.0080	0.0079	0.0130	0.0127	0.0013	0.0036	0.0036	5.04e-05	0.0022	0.0133	0.0087	0.0078	0.0136	0.0056	0.0055	0.0057	0.0054	0.0112	0.0052	0.0051	0.0088	0.0082	0.0015	0	0.0054	0.0023	0.0002	0.0016	0.0034	0.0090	0.0038	0.0112	0.065	0.91255	T	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.047690	0.998178	0.44592	D	2.275	0.64647	M	2.1	0.22474	T	-3.73	0.70920	D	0.618	0.67822	-1.0898	0.05565	T	0.087	0.33774	T	9	0.008733511	0.00198	T	.	.	.	0.260	0.57221	.	.	0.730538620245	0.72814	0.6667703258334168	0.66615	0.450404353452	0.44807	0.605244636536	0.53645	T	0.566117	0.85558	D	-0.443432	0.01235	T	-0.398059	0.33611	T	0.00854146172025429	0.00104	T	0.928907	0.75503	D	0.16323857	0.36452	0.28754643	0.54767	0.13781822	0.31896	0.2813219	0.54112	-6.251	0.48333	T	0.8860313117378174	0.94227	0.290	0.52144	B	.;.;.	.;.;.	4.933726	0.81364	27.5	0.99834264341119572	0.91542	0.96462	0.69259	D	AEFBHCI	0.847817	0.76465	D	0.709629925426277	0.80264	7.255832	0.723519105273188	0.84165	8.216543	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.453000	0.79758	7.851000	0.70967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.798	0.78201	381	0.83684	C2 domain|C2 domain|C2CD3, C2 domain;.;C2 domain|C2 domain|C2CD3, 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	0.009567	0.010101	0.005435	0.020468	0.000000	0.000000	0.006098	0.015152	0.05263	2557.83	36	chr11	74085833	.	T	C	2557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.135;DP=953;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.446;SOR=0.68	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1363,0,1329	17	0	2	0
chr11	77172767	77172767	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon16:c.G1817A:p.R606H,MYO7A:NM_001127180:exon16:c.G1817A:p.R606H,MYO7A:NM_001369365:exon17:c.G1784A:p.R595H	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	508743	not_provided|Usher_syndrome_type_1B|Autosomal_recessive_nonsyndromic_hearing_loss_2|Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1|Nonsyndromic_genetic_hearing_loss|not_specified	MedGen:C3661900|MONDO:MONDO:0700087,MedGen:C2931206|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MedGen:CN169374	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.832	0.396682205298	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	4.53e-05	7	154602	rs782311929	5.12e-05	5.883e-05	4.776e-05	5.472e-05	0.0004	4.15e-05	3.814e-05	0.0003	0.0002	3.14e-05	0	0	2.767e-05	0	0	3.69e-05	1.716e-05	0.0004	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.003	0.68238	D	0.008	0.72224	D	0.998	0.73220	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.155	0.60227	M	-2.29	0.87591	D	-4.03	0.74348	D	0.812	0.81360	0.755	0.93859	D	0.790	0.92885	D	10	0.85794395	0.84999	D	0.396682	0.93308	D	0.832	0.94691	.	.	0.941670389387	0.94105	0.47679168939002115	0.47599	0.515447153205	0.49457	0.831562280655	0.86801	D	0.823947	0.95725	D	0.0505843	0.58419	T	0.143752	0.79787	D	0.866811037063599	0.51685	D	0.974103	0.90741	D	0.570296	0.71077	0.51357126	0.71893	0.570296	0.71078	0.51357126	0.71893	-11.805	0.84557	D	0.3375507325813594	0.43543	0.787	0.76682	P	.;.;.;.	.;.;.;.	5.018151	0.83384	28.0	0.99950952319509201	0.99944	0.96950	0.71831	D	AEFDBIJ	0.932388	0.92266	D	0.790501381230454	0.85508	8.596777	0.740435023077106	0.85442	8.581499	0.999999999999775	0.74766	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.526803	0.08958	0	.	.	4.77	4.77	0.60425	7.657000	0.82733	8.606000	0.77748	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.157	0.89625	585	0.69300	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001045	0.000000	0.002786	0.003145	0.000000	0.000000	0.000000	0.000000	0.02632	841.33	35	chr11	77172767	.	G	A	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=716;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.17;SOR=0.578	GT:AD:DP:GQ:PL	0/1:52,34:86:99:855,0,1189	18	0	1	0
chr11	78250373	78250373	C	A	exonic	GAB2	.	nonsynonymous SNV	GAB2:NM_012296:exon3:c.G290T:p.G97V,GAB2:NM_080491:exon3:c.G404T:p.G135V	.	413	1108	1	0	0	1	0.00045106	.	.	.	701996	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.059	.	0.0003	0.0119808	0.0094	0.0013	0.0914	0.0029	0	0.0002	0.0044	0.0014	0.0090749	1403	154602	rs76853537	0.0030	0.0030	0.0034	0.0026	0.0843	0.0029	0.0029	0.0820	0.0811	0.0009	0.0843	0	0.0059	0	0.0005	6.657e-05	0.0026	0.0010	0.0059	0.0059	0.0049	0.0069	0.0516	0.0056	0.0054	0.0486	0.0474	0.0011	0	0.0516	0	0.0019	0	0.0034	0.0003	0.0100	0.0019	0.534	0.23721	T	0.338	0.18449	T	0.003	0.11197	B	0.006	0.12133	B	0.903612	0.07371	U	1.054650	1	0.08975	N	0.69	0.16971	N	2.59	0.42502	T	-0.01	0.07155	N	0.117	0.11912	-1.0525	0.13709	T	0.009	0.03096	T	10	0.001594156	0.00018	T	.	.	.	0.059	0.16972	.	.	.	.	0.3709873581077365	0.37012	0.0638212480089	0.07108	0.333248972893	0.15425	T	0.28367	0.65643	T	-0.531286	0.00377	T	-0.469125	0.25611	T	0.00416542744042744	0.00044	T	0.484552	0.21519	T	0.056113906	0.10997	0.0598107	0.11287	0.056113906	0.10997	0.0598107	0.11286	-3.424	0.15381	T	.	.	0.073	0.05231	B	.;.;.;.	.;.;.;.	1.326356	0.17311	13.09	0.44350623594494926	0.03403	0.40641	0.26481	N	AEFBI	0.179119	0.30640	N	-1.00896676693882	0.08417	0.3945756	-0.988502767996414	0.10043	0.5033652	0.991397552498631	0.32474	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.46	1.28	0.20656	0.784000	0.26477	0.457000	0.18579	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.643000	0.32503	0.0:0.468:0.463:0.069	11.952	0.52245	649	0.63102	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1746.33	34	chr11	78250373	.	C	A	1746.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.071;DP=764;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.825;SOR=0.546	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1760,0,1642	18	0	1	0
chr11	89875824	89875824	T	-	exonic	TRIM64B	.	frameshift deletion	TRIM64B:NM_001164397:exon1:c.194delA:p.N65Tfs*12	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0121805	0.0065	0	0.0135	0.0303	0.0577	0.0014	0.0369	0.0008	0.0024205	63	26028	rs202171686	0.0033	0.0033	0.0034	0.0032	0.0413	0.0033	0.0032	0.0396	0.0389	6.339e-05	0.0117	3.972e-05	0.0413	0.0459	0	0.0003	0.0032	0.0004	0.0054	0.0063	0.0034	0.0074	0.0401	0.0050	0.0049	0.0355	0.0337	0.0002	0	0.0045	0	0.0401	0.0467	0	0.0007	0.0048	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003641	0.000000	0.000000	0.000000	0.000000	0.000000	0.014493	0.009804	0.02632	4018.29	47	chr11	89875823	.	GT	G	4018.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.434;DP=1019;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.4;MQRankSum=-0.744;QD=23.09;ReadPosRankSum=0.991;SOR=0.669	GT:AD:DP:GQ:PL	0/1:52,122:174:99:4032,0,1403	18	0	1	0
chr11	90086557	90086557	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G608C:p.R203T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.46632	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.06643045	0.09110	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.21323195079400067	0.21239	.	.	0.453380286694	0.32406	T	0.09006	0.38505	T	-0.213133	0.18940	T	-0.543927	0.17914	T	.	.	.	0.268673	0.04486	T	0.058495175	0.11776	0.07780641	0.17369	0.058495175	0.11776	0.07780641	0.17368	-2.736	0.07610	T	.	.	0.089	0.12132	B	.	.	0.095003	0.04978	1.540	0.40076986978530127	0.02806	0.04361	0.09932	N	AEFI	.	.	.	.	.	.	.	.	.	3.05911429590198E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	-2.13	0.06745	0.266000	0.18300	0.115000	0.14837	-3.554000	0.00076	0.039000	0.20931	0.000000	0.08366	0.017000	0.10941	0.2442:0.249:0.5067:0.0	3.692	0.07881	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	293.79	41	chr11	90086557	.	G	C	293.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.677;DP=682;ExcessHet=0.3672;FS=67.377;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=33.9;MQRankSum=-0.793;QD=3.19;ReadPosRankSum=1.79;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,7:37:48:0|1:90086557_G_C:48,0,1186:90086557	16	0	3	0
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	633.1	51	chr11	90086558	.	G	C	633.1	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.591;DP=741;ExcessHet=1.3;FS=178.578;InbreedingCoeff=-0.305;MLEAC=7;MLEAF=0.292;MQ=33.5;MQRankSum=-1.725;QD=3.88;ReadPosRankSum=1.32;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,12:37:99:0|1:90086557_G_C:178,0,611:90086557	7	0	5	7
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	305.57	36	chr11	90086559	.	T	C	305.57	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.422;DP=738;ExcessHet=0.3672;FS=79.824;InbreedingCoeff=-0.1128;MLEAC=3;MLEAF=0.083;MQ=34.27;MQRankSum=-0.793;QD=3.15;ReadPosRankSum=1.77;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,7:37:48:0|1:90086557_G_C:48,0,1186:90086557	15	0	3	1
chr11	92981635	92981635	C	T	exonic	MTNR1B	.	nonsynonymous SNV	MTNR1B:NM_005959:exon2:c.C412T:p.R138C	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.709	0.356317699531	0.0009	0.000798722	0.0011	0.0003	0.0011	0	0	0.0013	0.0011	0.0017	0.0010931	169	154602	rs61746674	0.0013	0.0013	0.0013	0.0014	0.0023	0.0013	0.0013	0.0017	0.0016	0.0001	0.0005	0.0008	2.519e-05	5.616e-05	0.0023	0.0015	0.0011	0.0019	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0012	0.0011	0.0002	0	0.0001	0.0009	0	9.413e-05	0.0034	0.0014	0.0014	0.0012	0.008	0.58626	D	0.01	0.65728	D	0.997	0.70673	D	0.924	0.65913	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.51	0.99008	H	-4.28	0.97126	D	-6.48	0.91522	D	0.596	0.61511	0.981	0.96870	D	0.945	0.98184	D	10	0.16388956	0.30675	T	0.356318	0.92399	D	0.709	0.89605	.	.	0.946344207893	0.94577	0.7976175587079167	0.79714	0.558204459078	0.52405	0.421830534935	0.28089	T	0.647007	0.89242	D	-0.117516	0.33531	T	0.0519437	0.73712	D	0.138522330492092	0.16147	T	0.966703	0.87848	D	0.68874824	0.77444	0.5614439	0.74624	0.68874824	0.77445	0.5614439	0.74625	-12.606	0.87677	D	.	.	0.763	0.75635	P	.	.	2.437495	0.31368	18.72	0.99705016991771578	0.80936	0.54765	0.29696	D	AEFBI	0.225995	0.35000	N	0.233489888325489	0.52827	3.454623	0.0689594197965708	0.42997	2.610748	8.89694901614827E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.97	2.09	0.26154	0.445000	0.21392	-1.392000	0.05547	-0.267000	0.06790	0.995000	0.38783	0.001000	0.17328	0.073000	0.16832	0.2071:0.6298:0.0:0.1631	6.225	0.19915	824	0.40336	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	0.003021	0.000000	0.002717	0.000000	0.050000	0.000000	0.006098	0.003788	0.05263	4216.83	36	chr11	92981635	.	C	T	4216.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.986;DP=1019;ExcessHet=0.119;FS=2.316;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.129;SOR=0.579	GT:AD:DP:GQ:PL	0/1:90,86:176:99:2250,0,2367	17	0	2	0
chr11	102715411	102715411	A	G	exonic	MMP8	.	nonsynonymous SNV	MMP8:NM_002424:exon7:c.T929C:p.L310P,MMP8:NM_001304441:exon8:c.T860C:p.L287P,MMP8:NM_001304442:exon8:c.T860C:p.L287P	.	423	1095	4	0	0	4	0.00182315	.	.	.	2809800	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0111510159455	0.0005	0.00159744	0.0018	0	0.0009	0	0	0.0007	0.0056	0.0093	0.001533	237	154602	rs61753779	0.0011	0.0011	0.0008	0.0015	0.0101	0.0011	0.0011	0.0096	0.0093	5.979e-05	0.0004	0.0049	2.522e-05	5.619e-05	0.0036	0.0005	0.0014	0.0101	0.0006	0.0006	0.0006	0.0007	0.0064	0.0005	0.0005	0.0046	0.0040	7.217e-05	0	0.0004	0.0029	0	0	0	0.0006	0.0028	0.0064	0.175	0.22400	T	0.191	0.28391	T	0.496	0.37079	P	0.722	0.54942	P	0.645376	0.10561	N	0.794265	0.999988	0.18198	N	2.815	0.81989	M	4.24	0.02590	T	-2.59	0.55821	D	0.55	0.57604	-1.0321	0.19777	T	0.024	0.10058	T	10	0.006801486	0.00154	T	0.011151	0.28477	T	0.140	0.37593	.	.	0.65604970179	0.65317	0.6067632084119647	0.60607	0.312383775488	0.33544	0.418269306421	0.27600	T	0.119774	0.44155	T	-0.483414	0.00707	T	-0.459205	0.26686	T	0.0941938403619504	0.11705	T	0.231377	0.03133	T	0.35558328	0.57498	0.3585015	0.61325	0.35558328	0.57498	0.3585015	0.61324	-9.605	0.71510	D	.	.	0.613	0.69403	P	.	.	2.116028	0.26930	17.29	0.98748744524801779	0.45618	0.08775	0.14654	N	AEFGBI	0.136410	0.25707	N	-0.210869398859929	0.32688	1.846145	-0.391234213462376	0.25256	1.387895	8.96620670391953E-4	0.07974	0.569682	0.32691	0	0.59043	0.45803	0	0.657636	0.52715	0	0.530356	0.10902	0	.	.	5.47	2.99	0.33673	0.659000	0.24677	2.949000	0.35703	0.756000	0.94297	0.000000	0.06391	0.005000	0.19230	0.463000	0.28185	0.5081:0.0:0.0:0.4919	9.654	0.39078	723	0.55174	Hemopexin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	918.33	34	chr11	102715411	.	A	G	918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.411;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.761;SOR=0.632	GT:AD:DP:GQ:PL	0/1:50,42:92:99:932,0,1195	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|1:131,33:164:99:0|1:106010659_C_T:129,0,4054:106010659	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,33:164:99:0|1:106010659_C_T:129,0,4054:106010659	1	0	10	8
chr11	118210600	118210600	T	C	exonic	JAML	.	nonsynonymous SNV	JAML:NM_001286570:exon3:c.A194G:p.Q65R,JAML:NM_001286571:exon3:c.A194G:p.Q65R,JAML:NM_153206:exon3:c.A281G:p.Q94R,JAML:NM_001098526:exon4:c.A311G:p.Q104R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0183037468435	7.7e-05	.	0.0001	0	8.643e-05	0	0	0.0002	0	0	0.0001035	16	154602	rs138252230	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.987e-05	6.708e-05	0	0	0	0	0.0004	4.967e-05	0	0.0001	0.0001	0.0001	9.413e-05	0.0002	7.576e-05	6.281e-05	0.0001	0.0001	4.825e-05	0	6.541e-05	0	0	0	0	0.0002	0	0	0.3	0.22833	T	0.254	0.52727	T	0.984	0.60733	D	0.957	0.69900	D	0.000137	0.49741	D	0.000000	0.906577	0.36302	D	.	.	.	-0.24	0.66834	T	-1.32	0.40850	N	0.139	0.17278	-0.5444	0.66997	T	0.317	0.68655	T	10	0.31640843	0.49062	T	0.018304	0.40317	T	0.410	0.72176	.	.	0.829592899632	0.82797	0.20123444654611852	0.20040	0.201076596185	0.22511	0.37213203311	0.21138	T	0.00367	0.28431	T	-0.22085	0.17877	T	-0.249036	0.49912	T	0.393158167600632	0.28684	T	0.616838	0.24084	T	0.13139562	0.30629	0.12688021	0.30551	0.13139562	0.30629	0.12688021	0.30551	-5.116	0.38346	T	.	.	0.091	0.14201	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.877498	0.38066	20.6	0.99833593408679	0.91456	0.74689	0.36543	D	AEFBI	0.467075	0.51445	N	0.31260316002089	0.56796	3.844871	0.30417145158018	0.55784	3.741275	0.999976853297696	0.50053	0.549168	0.22868	0	0.588066	0.40923	0	0.468601	0.07175	0	0.616125	0.45549	0	.	.	5.14	4.02	0.45968	0.904000	0.28114	0.382000	0.17791	0.665000	0.62972	1.000000	0.71638	0.553000	0.25478	0.997000	0.79791	0.0:0.0955:0.0:0.9045	7.478	0.26559	416	0.81733	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1428.33	34	chr11	118210600	.	T	C	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=758;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.106;SOR=0.803	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1442,0,1340	18	0	1	0
chr11	123728190	123728190	T	C	exonic	ZNF202	.	nonsynonymous SNV	ZNF202:NM_001301819:exon4:c.A103G:p.K35E,ZNF202:NM_001301780:exon5:c.A775G:p.K259E,ZNF202:NM_001301779:exon6:c.A775G:p.K259E,ZNF202:NM_003455:exon7:c.A775G:p.K259E	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0058	0.00359425	0.0043	0.0016	0.0007	0	0.0009	0.0071	0	0.0010	0.0048124	744	154602	rs61767139	0.0081	0.0081	0.0083	0.0078	0.0100	0.0079	0.0079	0.0099	0.0098	0.0012	0.0014	0.0002	0	0.0009	0.0009	0.0100	0.0057	0.0013	0.0052	0.0052	0.0060	0.0043	0.0096	0.0049	0.0048	0.0090	0.0087	0.0019	0.0066	0.0020	0	0	0.0006	0	0.0096	0.0043	0.0010	0.195	0.20759	T	0.172	0.30241	T	0.262	0.31549	B	0.285	0.40506	B	0.000092	0.51296	D	0.000000	0.903171	0.36221	D	2.94	0.84723	M	4.13	0.02865	T	-1.93	0.44852	N	0.588	0.61002	-1.1272	0.01921	T	0.011	0.04274	T	10	0.009696603	0.00218	T	.	.	.	0.141	0.37795	.	.	0.384752662912	0.38087	0.40315398828575216	0.40231	0.570378327537	0.53198	0.613236248493	0.54774	T	0.11034	0.42496	T	-0.45885	0.00999	T	-0.422487	0.30791	T	0.0921440124511719	0.11469	T	0.712729	0.32446	T	0.21344644	0.43724	0.23858613	0.49185	0.21344644	0.43723	0.23858613	0.49184	-8.298	0.63082	D	.	.	0.731	0.74807	P	.;.;.	.;.;.	3.973103	0.58349	24.0	0.99904504618880852	0.97576	0.96851	0.71283	D	AEFBI	0.301374	0.40992	N	0.210482075387066	0.51706	3.349831	0.277496391296268	0.54230	3.588469	0.999466758165409	0.39843	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	1.766000	0.38121	3.394000	0.38086	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.845	0.57208	800	0.44535	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	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	0.003049	0.007576	0.02632	1743.33	35	chr11	123728190	.	T	C	1743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=757;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.154;SOR=0.585	GT:AD:DP:GQ:PL	0/1:52,72:124:99:1757,0,1239	18	0	1	0
chr11	124122974	124122974	G	T	exonic	VWA5A	.	nonsynonymous SNV	VWA5A:NM_014622:exon7:c.G775T:p.D259Y,VWA5A:NM_198315:exon7:c.G775T:p.D259Y,VWA5A:NM_001130142:exon8:c.G775T:p.D259Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0292116005188	.	.	4.167e-05	0	8.654e-05	0	0	0	0	0.0003	3.23e-05	5	154602	rs763678720	1.574e-05	1.573e-05	8.171e-06	2.339e-05	0.0002	1.048e-05	8.76e-06	0.0002	0.0001	0	0	0	0	0	0	8.994e-07	1.657e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.63226	D	0.003	0.76473	D	0.999	0.77913	D	0.95	0.68788	D	0.015291	0.28288	N	0.420672	0.99933	0.46701	D	2.935	0.84639	M	3.64	0.19020	T	-5.7	0.88963	D	0.534	0.56748	-0.9525	0.40538	T	0.137	0.45299	T	10	0.52292174	0.62745	D	0.029212	0.51759	D	0.213	0.50496	0.414	0.45216	0.177238962908	0.17366	0.40715699389665	0.40631	0.267502293353	0.29292	0.319076061249	0.13281	T	0.154001	0.51496	T	-0.283006	0.10352	T	-0.343971	0.39895	T	0.812065720558167	0.47195	D	0.962304	0.85835	D	0.10104251	0.23864	0.1391794	0.33216	0.10104251	0.23864	0.1391794	0.33216	-9.213	0.69057	D	.	.	0.116	0.38587	B	.;.;.;.;.	.;.;.;.;.	3.411584	0.47324	22.4	0.97884446136792769	0.36628	0.92721	0.56383	D	AEFDBCI	0.385211	0.46604	N	-0.0306393556702856	0.40470	2.404009	-0.152214584995687	0.33324	1.904968	0.997055043738393	0.35233	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.96	4.09	0.47038	4.853000	0.62610	.	.	-0.785000	0.03297	1.000000	0.71638	0.999000	0.35428	0.055000	0.15596	0.0754:0.139:0.7857:0.0	10.004	0.41118	768	0.49510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	962.33	33	chr11	124122974	.	G	T	962.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.622;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.834;SOR=0.693	GT:AD:DP:GQ:PL	0/1:26,40:66:99:976,0,625	18	0	1	0
chr11	130126702	130126702	C	T	exonic	APLP2	.	nonsynonymous SNV	APLP2:NM_001142278:exon4:c.C406T:p.P136S,APLP2:NM_001382546:exon4:c.C406T:p.P136S,APLP2:NM_001382539:exon6:c.C751T:p.P251S,APLP2:NM_001382540:exon6:c.C751T:p.P251S,APLP2:NM_001382541:exon6:c.C637T:p.P213S,APLP2:NM_001382542:exon6:c.C625T:p.P209S,APLP2:NM_001382543:exon6:c.C637T:p.P213S,APLP2:NM_001382545:exon6:c.C637T:p.P213S,APLP2:NM_001142277:exon7:c.C925T:p.P309S,APLP2:NM_001328682:exon7:c.C925T:p.P309S,APLP2:NM_001328685:exon7:c.C925T:p.P309S,APLP2:NM_001382533:exon7:c.C919T:p.P307S,APLP2:NM_001382534:exon7:c.C925T:p.P309S,APLP2:NM_001382535:exon7:c.C940T:p.P314S,APLP2:NM_001382536:exon7:c.C919T:p.P307S,APLP2:NM_001382537:exon7:c.C925T:p.P309S,APLP2:NM_001382538:exon7:c.C805T:p.P269S,APLP2:NM_001142276:exon8:c.C1093T:p.P365S,APLP2:NM_001243299:exon8:c.C1123T:p.P375S,APLP2:NM_001328684:exon8:c.C1093T:p.P365S,APLP2:NM_001328686:exon8:c.C994T:p.P332S,APLP2:NM_001382526:exon8:c.C1093T:p.P365S,APLP2:NM_001382527:exon8:c.C1093T:p.P365S,APLP2:NM_001382528:exon8:c.C1108T:p.P370S,APLP2:NM_001382529:exon8:c.C1093T:p.P365S,APLP2:NM_001382530:exon8:c.C1093T:p.P365S,APLP2:NM_001382531:exon8:c.C961T:p.P321S,APLP2:NM_001382532:exon8:c.C994T:p.P332S,APLP2:NM_001642:exon8:c.C1093T:p.P365S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0115906020185	.	.	0.0001	0	8.637e-05	0	0	0	0	0.0010	0.00011	17	154602	rs778062553	5.953e-05	6.02e-05	3.404e-05	8.529e-05	0.0010	4.884e-05	4.563e-05	0.0008	0.0007	0	0	0	0	0	0.0002	0	6.625e-05	0.0010	3.94e-05	3.937e-05	1.285e-05	6.714e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.192	0.30375	T	0.315	0.43344	T	0.001	0.90584	B	0.003	0.88582	B	0.087360	0.20538	N	0.511755	0.999985	0.54805	D	0.77	0.19370	N	1.0	0.41392	T	-0.54	0.29933	N	0.408	0.46742	-0.9876	0.33200	T	0.173	0.51642	T	10	0.05820909	0.09042	T	0.011591	0.29367	T	0.095	0.27398	0.422	0.46529	0.358461578395	0.35455	0.40433860021235485	0.40349	0.132944001821	0.14976	0.540994048119	0.44585	T	0.235407	0.60266	T	-0.326286	0.06397	T	-0.319451	0.42635	T	0.0725948422033297	0.09010	T	0.752925	0.45525	T	0.07659995	0.17335	0.07274518	0.15728	0.07659995	0.17334	0.07274518	0.15727	-4.753	0.34121	T	.	.	0.082	0.21766	B	.;.;.;.;.;.	.;.;.;.;.;.	4.417895	0.68405	25.2	0.99402387675574755	0.62887	0.97357	0.74238	D	AEFDBI	0.788189	0.71775	D	-0.0448248269368289	0.39833	2.355575	0.136865290672568	0.46451	2.89077	0.999999637253601	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	2.906000	0.48432	5.952000	0.51667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.306	0.82678	586	0.69252	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2312.33	33	chr11	130126702	.	C	T	2312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=817;ExcessHet=0;FS=1.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.23;SOR=0.804	GT:AD:DP:GQ:PL	0/1:86,91:177:99:2326,0,1985	18	0	1	0
chr12	865117	865117	G	A	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_213655:exon9:c.G2147A:p.R716H	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	9	1510	3	0	0	3	0.000992392	.	.	.	840310	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0059427455754	.	0.000199681	0.0002	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs150330647	4.171e-05	4.173e-05	3.311e-05	5.06e-05	0.0012	3.259e-05	2.977e-05	0.0006	0.0004	3.202e-05	0	0	0	3.001e-05	0.0012	2.247e-05	5.245e-05	0.0003	5.343e-05	5.257e-05	2.611e-05	8.206e-05	0.0004	2.594e-05	1.857e-05	7.468e-05	3.095e-05	0	0	6.673e-05	0	0	0	0	7.453e-05	0	0.0004	.	.	.	0.146	0.32891	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.4	0.44090	-1.0915	0.05286	T	0.044	0.18742	T	6	0.13973081	0.26565	T	0.005943	0.15490	T	.	.	.	.	0.43774664317	0.43397	0.021617356769467348	0.02113	.	.	.	.	.	.	.	.	-0.00280149	0.51268	T	0.0226278	0.71800	D	0.894748508930206	0.54618	D	0.669433	0.27806	T	.	.	.	.	.	.	.	.	-4.43	0.29961	T	.	.	0.267	0.50147	B	.	.	2.922823	0.38803	20.8	0.99942576558236929	0.99824	0.98875	0.88021	D	AEFGBI	0.879496	0.80549	D	0.307492050094947	0.56532	3.818103	0.394165919741863	0.61204	4.317329	0.999948612145258	0.47345	0.160855	0.03482	2	0.546412	0.12157	0	0.408882	0.06424	0	0.491896	0.07777	0	.	.	5.67	4.78	0.60666	7.687000	0.83428	4.534000	0.43737	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0693:0.0:0.9307:0.0	14.791	0.69466	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003927	0.000000	0.000000	0.005814	0.000000	0.071429	0.000000	0.000000	0.02632	1997.33	95	chr12	865117	.	G	A	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.228;DP=841;ExcessHet=0;FS=4.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.441;SOR=0.398	GT:AD:DP:GQ:PL	0/1:62,76:138:99:2011,0,1464	18	0	1	0
chr12	6062968	6062968	T	C	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon13:c.A1519G:p.R507G	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1152521	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.155155990288	.	0.00179712	0.0006	0	0	0.0075	0	1.58e-05	0.0012	0.0003	0.0005692	88	154602	rs189409574	0.0003	0.0003	0.0003	0.0003	0.0081	0.0002	0.0002	0.0074	0.0071	0	2.237e-05	0	0.0081	0	0	4.497e-06	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	6.534e-05	0	0.0083	0	0	0	0	0.0004	0.068	0.35726	T	0.084	0.41239	T	0.994	0.66517	D	0.985	0.76457	D	0.010987	0.29704	N	0.156443	0.938811	0.37239	D	1.8	0.47472	L	0.12	0.61089	T	-3.63	0.69714	D	0.388	0.42931	-0.6148	0.64205	T	0.235	0.60209	T	10	0.015665859	0.00329	T	0.155156	0.83615	D	0.270	0.58507	.	.	0.735289592754	0.73292	0.8434810525576213	0.84309	0.716724519433	0.62011	0.253543376923	0.04150	T	0.488385	0.81405	T	-0.373158	0.03438	T	-0.300831	0.44637	T	0.0722369363090276	0.08961	T	0.80142	0.44736	T	0.41904154	0.62028	0.3204465	0.57999	0.41904154	0.62028	0.3204465	0.57999	-7.26	0.55911	T	0.17828101851359965	0.22841	0.136	0.29533	B	.	.	3.677896	0.52339	23.2	0.99774909156149305	0.86260	0.40343	0.26415	N	AEFDGBCI	0.548730	0.56190	D	-0.0430544594344607	0.39914	2.361569	-0.0737879825207751	0.36477	2.123379	0.999999032925301	0.74766	0.722319	0.85440	0	0.615948	0.52940	0	0.600433	0.31921	0	0.735409	0.98432	0	.	.	5.18	4.02	0.45968	0.519000	0.22570	0.671000	0.20594	0.665000	0.62972	0.026000	0.20160	0.787000	0.26830	0.931000	0.46843	0.0:0.0915:0.1765:0.732	5.972	0.18590	900	0.24599	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1047.33	41	chr12	6062968	.	T	C	1047.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.123;DP=723;ExcessHet=0;FS=1.718;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.456;SOR=0.848	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1061,0,1077	18	0	1	0
chr12	6850587	6850587	A	G	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon3:c.T130C:p.S44P,CDCA3:NM_001297603:exon3:c.T130C:p.S44P,CDCA3:NM_001297604:exon3:c.T130C:p.S44P,CDCA3:NM_031299:exon3:c.T130C:p.S44P	.	416	1046	57	3	0	63	0.0292343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	0.0011	0.00239617	0.0042	0.0004	0.0040	0.0001	0	0.0011	0.0066	0.0231	0.003564	551	154602	rs150858074	0.0018	0.0019	0.0012	0.0025	0.0224	0.0018	0.0018	0.0216	0.0212	8.961e-05	0.0018	0.0013	2.519e-05	3.744e-05	0.0097	0.0004	0.0022	0.0224	0.0012	0.0012	0.0009	0.0015	0.0208	0.0010	0.0010	0.0175	0.0163	7.249e-05	0	0.0004	0.0020	0	9.468e-05	0.0034	0.0008	0.0009	0.0208	0.003	0.68238	D	0.005	0.72224	D	0.335	0.33330	B	0.114	0.31755	B	0.004789	0.33389	N	0.293987	0.986275	0.45182	D	2.455	0.71248	M	.	.	.	-1.81	0.57762	N	0.459	0.54496	-0.7274	0.59094	T	0.186	0.53586	T	9	0.006612748	0.00150	T	.	.	.	0.154	0.40340	.	.	0.431952752558	0.42816	0.45802854476548793	0.45720	0.78041944085	0.65269	0.532909572124	0.43444	T	0.193662	0.54920	T	-0.18533	0.22947	T	-0.021404	0.68936	D	0.0810008470602898	0.10115	T	0.793221	0.43505	T	0.46215984	0.64805	0.5441816	0.73653	0.46215984	0.64806	0.5441816	0.73653	-3.572	0.17453	T	.	.	0.448	0.62097	A	.;.;.;.;.	.;.;.;.;.	4.573058	0.72174	25.8	0.99826152259785705	0.90852	0.90070	0.50964	D	AEFDGBCI	0.816385	0.73813	D	0.245040344701089	0.53393	3.508432	0.361695448431946	0.59215	4.097542	0.999999923949678	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.7	5.7	0.88690	4.046000	0.57088	9.183000	0.79090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9142:0.0:0.0858:0.0	8.525	0.32460	564	0.70960	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008560	0.000000	0.008152	0.002924	0.000000	0.017241	0.009146	0.022727	0.05263	1940.83	34	chr12	6850587	.	A	G	1940.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.189;DP=760;ExcessHet=0.119;FS=4.078;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.319;SOR=1.057	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1142,0,865	17	0	2	0
chr12	9080114	9080114	C	T	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon22:c.G2384A:p.R795Q,A2M:NM_000014:exon23:c.G2834A:p.R945Q,A2M:NM_001347424:exon23:c.G2534A:p.R845Q,A2M:NM_001347423:exon24:c.G2834A:p.R945Q	Alpha-2-macroglobulin deficiency, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0508808568681	8.4e-05	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs377622666	1.114e-05	1.437e-05	9.663e-06	1.265e-05	2.401e-05	6.6e-06	5.34e-06	6.6e-06	5.09e-06	0	2.401e-05	0	0	0	0	1.183e-05	1.682e-05	1.223e-05	3.288e-05	3.284e-05	3.857e-05	2.692e-05	7.247e-05	1.262e-05	7.98e-06	1.922e-05	1.033e-05	7.247e-05	0	0	0	0	0	0	2.941e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.962	0.70672	D	0.000012	0.62929	D	0.000000	0.620258	0.30786	N	3.715	0.94732	H	1.4	0.33630	T	-3.61	0.69477	D	0.436	0.47487	-0.0262	0.81711	T	0.354	0.71735	T	10	0.6405486	0.69032	D	0.050881	0.64430	D	0.253	0.56294	.	.	0.850733277146	0.84930	0.4689189817818303	0.46810	0.781368027646	0.65310	0.302126467228	0.10718	T	0.47837	0.80822	T	-0.0366182	0.46451	T	-0.290376	0.45734	T	0.996048152446747	0.88560	D	0.906209	0.66975	D	0.6634026	0.76081	0.40789735	0.65122	0.6634026	0.76082	0.40789735	0.65122	-7.809	0.59761	D	.	.	0.102	0.17995	B	.	.	4.068595	0.60437	24.2	0.99935782011893781	0.99579	0.96657	0.70249	D	AEFBI	0.699679	0.65695	D	0.719872131029138	0.80935	7.406	0.584939735069769	0.73861	6.040016	0.999990866352636	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.66	5.66	0.87293	2.827000	0.47813	1.033000	0.23495	0.549000	0.26987	0.999000	0.42656	0.175000	0.23375	0.107000	0.18608	0.0:1.0:0.0:0.0	19.335	0.94297	532	0.73501	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	563.33	20	chr12	9080114	.	C	T	563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.392;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-1.454;SOR=0.936	GT:AD:DP:GQ:PL	0/1:14,24:38:99:577,0,293	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	0/1:76,10:86:99:128,0,2222	11	0	8	0
chr12	16194393	16194393	G	A	exonic	SLC15A5	.	nonsynonymous SNV	SLC15A5:NM_001170798:exon8:c.C1544T:p.A515V	.	434	1077	6	1	4	12	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	.	0.00998403	0.0058	0.0010	0.0032	0.0359	0	0	0	0.0128	0.0012872	199	154602	rs117728539	0.0012	0.0012	0.0009	0.0016	0.0132	0.0012	0.0012	0.0125	0.0122	0.0009	5.608e-05	0	0.0132	0	0.0007	1.856e-05	0.0024	0.0132	0.0016	0.0016	0.0014	0.0018	0.0263	0.0014	0.0014	0.0227	0.0213	0.0005	0	0.0004	0	0.0263	0	0	4.414e-05	0.0033	0.0139	0.006	0.61437	D	0.01	0.65728	D	.	.	.	.	.	.	0.002176	0.37095	N	0.265230	0.998761	0.45406	D	2.685	0.78553	M	0.03	0.62183	T	-3.28	0.65627	D	0.727	0.72835	-0.5103	0.68275	T	0.208	0.56662	T	8	0.008880258	0.00201	T	.	.	.	0.376	0.69443	.	.	0.173771789658	0.16945	0.7045948681468894	0.70401	.	.	0.51724845171	0.41238	T	0.088683	0.38210	T	-0.143459	0.29340	T	0.0434675	0.73155	D	0.0497381734880187	0.05455	T	0.881012	0.60027	D	0.26617223	0.49686	0.2662318	0.52466	0.26617223	0.49686	0.2662318	0.52465	-7.565	0.58066	D	.	.	0.346	0.56304	A	.	.	4.527601	0.71041	25.6	0.99885163396292032	0.96049	0.89528	0.50050	D	AEFI	0.380515	0.46313	N	0.350029813116638	0.58741	4.048306	0.381525753252716	0.60427	4.230082	0.00424373443881038	0.10472	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	4.46	0.53567	3.812000	0.55333	9.777000	0.81580	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0788:0.0:0.9212:0.0	12.245	0.53880	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1469.33	40	chr12	16194393	.	G	A	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.411;DP=863;ExcessHet=0;FS=0.613;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.986;SOR=0.787	GT:AD:DP:GQ:PL	0/1:82,65:147:99:1483,0,1983	18	0	1	0
chr12	16224413	16224413	C	T	splicing	SLC15A5	NM_001170798:exon6:c.1351+1G>A	.	.	.	430	1087	4	1	0	6	0.00275229	1.0000	0.9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00958466	0.0063	0.0006	0.0039	0.04	0	0	0	0.0133	0.0012742	197	154602	rs117974895	0.0013	0.0013	0.0010	0.0017	0.0135	0.0013	0.0013	0.0126	0.0124	0.0010	0.0002	0	0.0135	0	0.0005	0.0001	0.0025	0.0133	0.0017	0.0017	0.0016	0.0019	0.0268	0.0016	0.0015	0.0232	0.0218	0.0006	0	0.0009	0	0.0268	0	0	0.0001	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0909434	0.37919	T	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.552988	0.71668	25.7	0.98738716528017478	0.45467	0.97643	0.76109	D	AEFDI	.	.	.	0.937030324084066	0.93452	12.049	0.711580622138072	0.83260	7.974844	0.999950991673883	0.48110	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.978	0.81628	4.7	4.7	0.58776	6.755000	0.74710	3.832000	0.40000	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.024000	0.12247	0.0:1.0:0.0:0.0	17.820	0.88558	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	775.33	35	chr12	16224413	.	C	T	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.334;DP=663;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=0.872;SOR=0.73	GT:AD:DP:GQ:PL	0/1:20,27:47:99:789,0,485	18	0	1	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	0/1:22,22:48:99:.:.:137,0,275:.	2	0	16	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:898,27:927:99:.:.:2977,0,37222:.	8	0	11	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:871,27:900:99:.:.:3278,0,35409:.	11	0	8	0
chr12	47973495	47973495	C	T	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon53:c.G4169A:p.R1390H,COL2A1:NM_001844:exon54:c.G4376A:p.R1459H	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	.	.	.	.	.	.	.	.	.	.	1198378	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.799	0.208023939335	.	.	3.295e-05	0.0002	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs777416478	1.094e-05	1.094e-05	9.529e-06	1.238e-05	0.0001	6.48e-06	5.24e-06	7.123e-05	5.481e-05	5.974e-05	0	0	0	0	0	2.698e-06	0	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	0.001	0.78490	D	0.014	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-0.99	0.75911	T	-4.49	0.78046	D	0.62	0.89800	0.549	0.91226	D	0.659	0.88159	D	10	0.84235394	0.83393	D	0.208024	0.87124	D	0.799	0.93425	0.804	0.92230	0.757324575301	0.75511	0.7060950846413222	0.70551	0.388330317616	0.40095	0.671713173389	0.63082	T	0.814506	0.95399	D	0.0799662	0.62037	D	0.113758	0.77821	D	0.94150573015213	0.61482	D	0.990434	0.97165	D	0.6083384	0.73139	0.53460103	0.73107	0.6083384	0.73140	0.53460103	0.73108	-11.608	0.82889	D	0.40487822326443895	0.49614	0.858	0.80194	P	.;.	.;.	4.922325	0.81085	27.5	0.99836040162667372	0.91714	0.98985	0.89557	D	AEFDGBI	0.928361	0.91246	D	0.877374356717802	0.90609	10.48188	0.792136062516755	0.89240	9.895026	0.999999999962267	0.74766	0.648238	0.45900	0	0.588066	0.40923	0	0.693144	0.63139	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	7.902000	0.86082	7.729000	0.67687	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.483	0.87572	635	0.64580	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;.	.	.	.	.	.	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	2087.33	33	chr12	47973495	.	C	T	2087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.008;DP=817;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-2.052;SOR=0.751	GT:AD:DP:GQ:PL	0/1:74,86:160:99:2101,0,1695	18	0	1	0
chr12	49330370	49330370	T	A	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.T1525A:p.C509S	.	413	1090	18	1	0	20	0.00909091	.	.	.	3185208	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00367319463979	0.0049	0.00219649	0.0066	0.0012	0.0022	0	0.0038	0.0092	0.0055	0.0071	0.0063971	989	154602	rs143183472	0.0064	0.0064	0.0063	0.0065	0.0070	0.0063	0.0063	0.0069	0.0068	0.0011	0.0028	0.0076	0	0.0050	0.0061	0.0070	0.0062	0.0068	0.0047	0.0047	0.0046	0.0048	0.0074	0.0044	0.0043	0.0069	0.0067	0.0007	0.0055	0.0034	0.0078	0.0004	0.0039	0.0102	0.0074	0.0076	0.0066	0.206	0.19927	T	0.672	0.08419	T	0.103	0.25884	B	0.058	0.26451	B	0.061803	0.02148	N	1.798600	1	0.08975	N	1.83	0.48079	L	.	.	.	-3.45	0.67589	D	0.274	0.33250	-1.0260	0.21756	T	0.051	0.21883	T	9	0.0038397908	0.00072	T	0.003673	0.08464	T	0.031	0.07369	0.196	0.10839	0.0884992946249	0.08302	0.16855422563779376	0.16775	0.40177712188	0.41149	0.30153298378	0.10629	T	0.033212	0.22818	T	-0.512008	0.00489	T	-0.497852	0.22571	T	0.0104049088942349	0.00143	T	0.620638	0.23835	T	0.11874252	0.27970	0.112878084	0.27239	0.11874252	0.27970	0.112878084	0.27238	0.29	0.00261	T	.	.	0.155	0.34405	B	.;.;.	.;.;.	-0.283965	0.02689	0.348	0.63729231830076694	0.07301	0.10349	0.15880	N	AEFDGBI	0.149105	0.27313	N	-1.28127558798654	0.03900	0.1751053	-1.38590147664022	0.03401	0.1585979	0.999961794418099	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.14	-5.91	0.02080	-0.633000	0.05581	-3.972000	0.02419	0.651000	0.53179	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.4188:0.3947:0.1865	7.711	0.27843	202	0.92131	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.005051	0.008152	0.000000	0.000000	0.008621	0.006098	0.011364	0.02632	1561.33	39	chr12	49330370	.	T	A	1561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.97;DP=1201;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.76;SOR=0.58	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1575,0,1173	18	0	1	0
chr12	50992929	50992929	C	G	exonic	SLC11A2	.	nonsynonymous SNV	SLC11A2:NM_001174130:exon11:c.G1066C:p.G356R,SLC11A2:NM_001379448:exon11:c.G1066C:p.G356R,SLC11A2:NM_000617:exon12:c.G1078C:p.G360R,SLC11A2:NM_001174125:exon12:c.G1165C:p.G389R,SLC11A2:NM_001174126:exon12:c.G1078C:p.G360R,SLC11A2:NM_001174127:exon12:c.G1078C:p.G360R,SLC11A2:NM_001174128:exon12:c.G1078C:p.G360R,SLC11A2:NM_001174129:exon12:c.G1078C:p.G360R,SLC11A2:NM_001379446:exon12:c.G1165C:p.G389R,SLC11A2:NM_001379447:exon12:c.G1078C:p.G360R,SLC11A2:NM_001379455:exon13:c.G1165C:p.G389R	Anemia, hypochromic microcytic, with iron overload 1, Autosomal recessive	.	.	.	.	.	.	.	0.9997	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.998	0.90584	D	0.991	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.715	0.94732	H	-0.48	0.70249	T	-7.85	0.96058	D	0.955	0.97095	0.578	0.91612	D	0.682	0.89003	D	10	0.8964438	0.88998	D	0.107652	0.78383	D	0.776	0.92501	0.681	0.81885	0.951542468893	0.95103	0.9644569325081326	0.96432	1.48017979023	0.86691	0.697722792625	0.66815	T	0.869328	0.97164	D	0.397124	0.89746	D	0.332664	0.89617	D	0.998587489128113	0.94563	D	0.997672	0.99143	D	0.9444972	0.95706	0.9321987	0.97246	0.9444972	0.95706	0.9321987	0.97246	-13.543	0.91942	D	0.8484490429988305	0.91527	0.994	0.95886	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.981431	0.94252	34	0.9992380840021825	0.98917	0.99698	0.98764	D	AEFDGBI	0.963005	0.98477	D	0.950995294932152	0.94025	12.44663	0.850598384972568	0.93051	11.79359	0.999999999999875	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.520000	0.80737	7.630000	0.62690	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.454000	0.27984	0.0:1.0:0.0:0.0	19.053	0.93035	218	0.91525	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	914.33	42	chr12	50992929	.	C	G	914.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.184;DP=791;ExcessHet=0;FS=2.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.936;SOR=0.465	GT:AD:DP:GQ:PL	0/1:32,35:67:99:928,0,879	18	0	1	0
chr12	51364221	51364221	C	T	exonic	GALNT6	.	nonsynonymous SNV	GALNT6:NM_007210:exon6:c.G949A:p.V317I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00856975828326	.	.	2.471e-05	0	8.64e-05	0	0	1.499e-05	0	6.056e-05	2.59e-05	4	154602	rs539279424	4.72e-05	4.72e-05	4.356e-05	5.088e-05	0.0001	3.794e-05	3.476e-05	7.124e-05	5.482e-05	2.987e-05	0	0	5.038e-05	0	0	4.676e-05	4.968e-05	0.0001	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.494	0.07895	T	0.305	0.20037	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.395	0.12235	N	0.33	0.58323	T	0.01	0.06868	N	0.17	0.18376	-1.0393	0.17526	T	0.088	0.34133	T	9	0.037210256	0.02062	T	0.00857	0.22655	T	0.031	0.07369	.	.	0.214338557667	0.21045	0.20112000924972842	0.20028	0.150839345589	0.17018	0.314584076405	0.12600	T	0.00532	0.04771	T	-0.445612	0.01199	T	-0.641199	0.09581	T	0.0350067581286933	0.02809	T	0.180982	0.01814	T	0.018777031	0.00400	0.026151756	0.00689	0.018777031	0.00400	0.026151756	0.00689	-3.435	0.15532	T	.	.	0.07	0.03479	B	.;.	.;.	1.261124	0.16590	12.64	0.96209416544094961	0.29050	0.07495	0.13510	N	AEFBI	0.081817	0.16559	N	-0.738135486789624	0.14957	0.7496244	-0.643745705252778	0.18375	0.981301	0.993186582254135	0.33117	0.732398	0.92422	0	0.702456	0.74545	0	0.80507	0.99327	0	0.727631	0.95156	0	.	.	4.59	1.81	0.24139	-1.360000	0.02706	0.362000	0.17587	0.599000	0.40250	0.000000	0.06391	0.976000	0.30059	0.870000	0.41412	0.0:0.4925:0.1598:0.3477	4.319	0.10450	262	0.89730	Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1613.33	34	chr12	51364221	.	C	T	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.029;DP=763;ExcessHet=0;FS=3.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=2.76;SOR=0.975	GT:AD:DP:GQ:PL	0/1:69,63:132:99:1627,0,1872	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	0/1:53,23:76:29:29,0,911	7	0	10	2
chr12	54362857	54362857	T	C	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.A995G:p.Y332C	.	428	1066	26	2	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.677	0.106184820731	0.0013	0.000199681	0.0011	0	0.0005	0	0	0.0017	0.0022	0.0007	0.0009832	152	154602	rs150704324	0.0008	0.0008	0.0008	0.0008	0.0068	0.0008	0.0007	0.0051	0.0045	0	0.0006	0.0200	0	0	0.0068	0.0004	0.0022	0.0006	0.0008	0.0008	0.0009	0.0007	0.0007	0.0007	0.0007	0.0004	0.0003	9.62e-05	0	0.0007	0.0179	0	0	0.0068	0.0005	0.0033	0.0006	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.983	0.75793	D	0.000293	0.46274	D	0.089663	0.999761	0.48888	D	2.67	0.78151	M	-0.65	0.72237	T	-7.26	0.94377	D	0.538	0.56576	-0.0261	0.81713	T	0.469	0.79524	T	10	0.014356315	0.00302	T	0.106185	0.78167	D	0.677	0.88109	.	.	0.931720955166	0.93101	0.5538825875542404	0.55314	0.737078601177	0.63034	0.608478248119	0.54101	T	0.124844	0.45015	T	-0.110071	0.34755	T	-0.0224351	0.68869	D	0.172152265906334	0.18725	T	0.860314	0.55333	D	0.7123625	0.78737	0.6253901	0.78164	0.7123625	0.78739	0.6253901	0.78165	-7.925	0.60558	D	.	.	0.563	0.67348	A	.;.	.;.	4.784643	0.77582	26.7	0.99797690209349965	0.88283	0.91930	0.54572	D	AEFBI	0.733640	0.68002	D	0.597249857674267	0.73002	5.895525	0.555956366379404	0.71813	5.712343	0.999999233979371	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.75	4.75	0.59954	4.409000	0.59524	7.837000	0.70361	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	12.528	0.55446	681	0.59854	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	0.004028	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.011364	0.02632	1523.33	34	chr12	54362857	.	T	C	1523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=761;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.118;SOR=0.644	GT:AD:DP:GQ:PL	0/1:65,59:124:99:1537,0,1583	18	0	1	0
chr12	54962733	54962733	G	A	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.C538T:p.P180S,TESPA1:NM_001351148:exon7:c.C751T:p.P251S,TESPA1:NM_001351151:exon7:c.C406T:p.P136S,TESPA1:NM_001351152:exon7:c.C406T:p.P136S,TESPA1:NM_001351153:exon7:c.C406T:p.P136S,TESPA1:NM_001351154:exon7:c.C406T:p.P136S,TESPA1:NM_001351155:exon7:c.C406T:p.P136S,TESPA1:NM_014796:exon7:c.C751T:p.P251S,TESPA1:NM_001261844:exon8:c.C751T:p.P251S,TESPA1:NM_001098815:exon9:c.C1165T:p.P389S,TESPA1:NM_001136030:exon9:c.C1165T:p.P389S,TESPA1:NM_001351149:exon10:c.C1165T:p.P389S	.	435	1023	60	4	0	68	0.0321665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.00479233	0.0060	0.0008	0.0034	0.0001	0.0006	0.0064	0.0056	0.0143	0.0054204	838	154602	rs79969168	0.0050	0.0050	0.0047	0.0054	0.0206	0.0049	0.0049	0.0176	0.0165	0.0005	0.0056	0.0219	5.038e-05	0.0005	0.0206	0.0043	0.0062	0.0139	0.0041	0.0041	0.0040	0.0042	0.0130	0.0038	0.0037	0.0105	0.0095	0.0008	0	0.0088	0.0205	0.0002	0.0002	0.0514	0.0042	0.0076	0.0130	0.108	0.29420	T	0.115	0.39040	T	0.009	0.15093	B	0.007	0.12992	B	0.884550	0.08731	N	0.941133	1	0.08975	N	1.3	0.32576	L	1.01	0.41058	T	-0.43	0.14390	N	0.089	0.08786	-1.0110	0.26604	T	0.047	0.20195	T	10	0.005149156	0.00112	T	.	.	.	0.057	0.16321	.	.	0.134241683229	0.13084	0.11741497963002354	0.11669	0.156741707563	0.17697	0.22092320025	0.01364	T	0.00258	0.01974	T	-0.646041	0.00077	T	-0.689738	0.06404	T	0.00151438580155197	0.00015	T	0.512349	0.16405	T	0.017450266	0.00273	0.025835352	0.00643	0.017450266	0.00273	0.025835352	0.00643	-3.329	0.14113	T	.	.	0.081	0.11893	B	.;.;.;.;.	.;.;.;.;.	-0.185425	0.03167	0.516	0.71880267870492953	0.09780	0.02568	0.07109	N	AEFBI	0.073802	0.14774	N	-0.917725297604605	0.10427	0.498243	-0.956001895449828	0.10783	0.5453844	0.126746297919489	0.17006	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.37	1.32	0.20897	-0.500000	0.06487	0.844000	0.22071	0.676000	0.76740	0.000000	0.06391	0.031000	0.21272	0.012000	0.09680	0.2879:0.0:0.4565:0.2556	2.444	0.04227	783	0.47268	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005051	0.016304	0.011696	0.000000	0.017241	0.027439	0.026515	0.07895	5584.79	35	chr12	54962733	.	G	A	5584.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.971;DP=1038;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.193;SOR=0.706	GT:AD:DP:GQ:PL	0/1:79,82:161:99:2111,0,1967	16	0	3	0
chr12	55130037	55130037	A	G	exonic	OR9K2	.	nonsynonymous SNV	OR9K2:NM_001005243:exon1:c.A269G:p.N90S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.00431344909494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771600693	1.376e-06	1.301e-05	1.369e-06	1.382e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	1.916e-05	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.178	0.29639	T	0.985	0.61118	D	0.86	0.61233	P	0.000042	0.53742	D	0.000000	0.504326	0.31767	D	1.62	0.41497	L	2.65	0.12676	T	-3.15	0.64132	D	0.176	0.18920	-0.9843	0.33998	T	0.076	0.30645	T	10	0.28129894	0.45706	T	0.004313	0.10467	T	0.144	0.38394	0.467	0.53891	0.454145904683	0.45038	0.395301661808567	0.39445	0.0199640575762	0.01959	0.255974888802	0.04423	T	0.013731	0.11823	T	-0.242355	0.15051	T	-0.585903	0.14022	T	0.806055068969727	0.46770	D	0.713029	0.32487	T	0.20844452	0.43081	0.3065049	0.56675	0.20844452	0.43081	0.3065049	0.56675	-5.812	0.44679	T	.	.	0.110	0.24532	B	.;.;.	.;.;.	3.261191	0.44598	22.0	0.99814947840031498	0.89885	0.92047	0.54827	D	AEFBI	0.357541	0.44853	N	0.512638152296228	0.67835	5.135115	0.487860843091837	0.67183	5.050222	0.0100889562602125	0.11964	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	3.250000	0.51146	.	.	0.754000	0.88378	0.058000	0.21700	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.810	0.69612	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	590.71	105	chr12	55130037	.	A	G	590.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.046;DP=2301;ExcessHet=0;FS=150.839;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=2.98;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,42:179:99:0|1:55130037_A_G:604,0,4685:55130037	17	0	1	1
chr12	55130039	55130039	C	G	exonic	OR9K2	.	nonsynonymous SNV	OR9K2:NM_001005243:exon1:c.C271G:p.L91V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.00235805217404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.75e-05	0.0007	2.6e-05	2.901e-05	6.004e-05	2.073e-05	1.825e-05	2.467e-05	2.154e-05	6.004e-05	0	0	0	0	0	3.344e-05	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000420	0.44736	D	0.000000	0.975331	0.39180	D	4.085	0.97236	H	6.92	0.00469	T	-2.78	0.58896	D	0.63	0.64393	-1.0043	0.28666	T	0.009	0.03011	T	10	0.3121304	0.48676	T	0.002358	0.04590	T	0.283	0.60100	0.361	0.36548	0.616060826097	0.61296	0.30525128378403127	0.30438	0.0537722388586	0.05938	0.276238977909	0.06973	T	0.109156	0.42279	T	0.171627	0.71273	D	0.0087536	0.70902	D	0.997965693473816	0.92874	D	0.981335	0.93623	D	0.8984238	0.91242	0.870756	0.92918	0.8984238	0.91243	0.870756	0.92918	-8.965	0.67471	D	.	.	0.200	0.45446	B	.;.;.	.;.;.	4.194490	0.63243	24.6	0.9984402775315363	0.92403	0.71179	0.34902	D	AEFBI	0.412549	0.48258	N	0.561495608912438	0.70784	5.552713	0.432776426690039	0.63619	4.599258	0.144675334062335	0.17336	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	0.473000	0.21843	.	.	0.597000	0.34315	0.050000	0.21411	0.000000	0.08366	0.998000	0.85391	0.0:1.0:0.0:0.0	18.425	0.90553	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	590.33	105	chr12	55130039	.	C	G	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.006;DP=2162;ExcessHet=0;FS=150.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=3.08;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,42:179:99:0|1:55130037_A_G:604,0,4685:55130037	18	0	1	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L	Vitamin D-dependent rickets, type I, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	870243	Vitamin_D-dependent_rickets,_type_1A|not_provided|Vitamin_D-dependent_rickets,_type_1	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	Likely benign	0	0	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	0.008577	0.005102	0.000000	0.005882	0.000000	0.000000	0.006135	0.034091	0.05263	4197.83	34	chr12	57765390	.	C	G	4197.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.13;DP=945;ExcessHet=0.119;FS=1.321;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.36;SOR=0.787	GT:AD:DP:GQ:PL	0/1:82,75:157:99:1988,0,2128	17	0	2	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	247.04	57	chr12	70635944	.	G	A	247.04	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.741;DP=1270;ExcessHet=1.3;FS=174.484;InbreedingCoeff=-0.3061;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.39;SOR=10.364	GT:AD:DP:GQ:PL	0/1:45,18:75:53:53,0,914	7	0	5	7
chr12	80358283	80358283	C	A	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon50:c.C6028A:p.H2010N,OTOGL:NM_173591:exon50:c.C6028A:p.H2010N,OTOGL:NM_001378610:exon53:c.C6028A:p.H2010N,OTOGL:NM_001368062:exon54:c.C5893A:p.H1965N	Deafness, autosomal recessive 84B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	230415	not_provided|not_specified|OTOGL-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.015	.	.	0.00279553	0.0012	0	0.0002	0.0001	0	3.569e-05	0	0.0084	0.0008926	138	154602	rs201869161	0.0004	0.0004	0.0002	0.0005	0.0059	0.0004	0.0003	0.0055	0.0053	2.99e-05	0	0	5.048e-05	0	0.0003	6.301e-06	0.0006	0.0059	0.0002	0.0002	7.711e-05	0.0004	0.0070	0.0002	0.0001	0.0052	0.0045	0	0	0	0	0	0	0	0	0	0.0070	0.275	0.15770	T	0.583	0.08419	T	.	.	.	.	.	.	0.191862	0.03256	N	1.661690	1	0.08975	N	.	.	.	1.5	0.31205	T	0.43	0.03297	N	0.147	0.14905	-1.0583	0.12184	T	0.021	0.08732	T	10	0.0061320662	0.00138	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.11681029350673967	0.11609	0.0228688274236	0.02315	0.261166632175	0.05030	T	.	.	.	-0.644082	0.00079	T	-0.694509	0.06130	T	0.00923485272037904	0.00117	T	0.0420958	0.00294	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00382	B	.;.;.	.;.;.	-1.061620	0.00688	0.020	0.39261825532679812	0.02698	0.01590	0.05170	N	AEFBI	0.032314	0.03624	N	-1.52165847136751	0.01707	0.07473768	-1.48000621202805	0.02508	0.1154846	0.00632736120366501	0.11188	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.39	-3.52	0.04383	0.826000	0.27061	0.397000	0.17956	-1.590000	0.00907	0.170000	0.23934	0.000000	0.08366	0.001000	0.02609	0.4261:0.2309:0.1273:0.2157	1.020	0.01421	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	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1553.33	36	chr12	80358283	.	C	A	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.272;DP=774;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.189;SOR=0.629	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1567,0,1572	18	0	1	0
chr12	80717106	80717106	T	C	exonic	MYF5	.	nonsynonymous SNV	MYF5:NM_005593:exon1:c.T43C:p.F15L	.	391	1130	0	1	0	2	0.000884173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.0817507142033	.	.	3.339e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs759444857	2.329e-05	2.326e-05	8.181e-06	3.856e-05	0.0004	1.677e-05	1.48e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0004	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.338	0.18125	T	0.997	0.70673	D	0.989	0.78396	D	0.000001	0.84330	D	0.095260	0.999814	0.49394	D	1.46	0.36832	L	-1.27	0.79277	T	-3.33	0.66206	D	0.532	0.56058	0.079	0.83785	D	0.566	0.84262	D	10	0.6273556	0.68319	D	0.081751	0.73751	D	0.678	0.88157	0.803	0.92160	0.947272906053	0.94672	0.43982633568774876	0.43899	0.767352288769	0.64580	0.725998520851	0.70922	T	0.79494	0.94711	D	-0.117021	0.33611	T	-0.101321	0.63297	T	0.72959566116333	0.42189	D	0.793221	0.43505	T	0.43625405	0.63160	0.36961377	0.62228	0.43625405	0.63161	0.36961377	0.62228	-3.323	0.14035	T	.	.	0.793	0.76956	P	.	.	3.986496	0.58638	24.0	0.99809182636192773	0.89353	0.99172	0.92291	D	AEFDBIJ	0.680089	0.64390	D	0.615483550140484	0.74153	6.084608	0.604958291507379	0.75300	6.286075	0.999999999263643	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.563428	0.18855	0	0.564101	0.26826	0	.	.	6.17	5.0	0.66209	4.789000	0.62139	6.149000	0.54167	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.1358:0.8641	12.876	0.57377	854	0.34840	Myogenic basic muscle-specific protein|Myogenic basic muscle-specific protein	.	.	.	.	.	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	1514.33	34	chr12	80717106	.	T	C	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.445;DP=793;ExcessHet=0;FS=6.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.085;SOR=0.352	GT:AD:DP:GQ:PL	0/1:77,66:143:99:1528,0,2075	18	0	1	0
chr12	96533807	96533807	C	T	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon10:c.C1373T:p.A458V,CFAP54:NM_001367885:exon10:c.C1373T:p.A458V	.	452	1069	1	0	0	1	0.000467508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0032930191929	.	0.000399361	0.0029	0	0.0086	0	0	0	0.0063	0.0053	0.0002523	39	154602	rs536361309	0.0002	0.0002	0.0001	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	3.251e-05	0	0	0	0	0	1.861e-06	0.0002	0.0041	7.227e-05	7.876e-05	3.856e-05	0.0001	0.0023	3.971e-05	3.127e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.464	0.08634	T	0.037	0.51737	D	.	.	.	.	.	.	0.874414	0.07196	N	1.056810	1	0.08975	N	.	.	.	.	.	.	-1.33	0.33197	N	0.134	0.13055	-0.9999	0.29945	T	0.063	0.26029	T	10	0.0047896206	0.00101	T	0.003293	0.07298	T	0.011	0.01250	0.322	0.30226	0.0297737177859	0.01360	0.0404062119153435	0.03986	0.0466183345428	0.05070	.	.	.	0.015873	0.13230	T	-0.553625	0.00277	T	-0.569494	0.15496	T	0.00947546204702073	0.00122	T	0.628437	0.24364	T	0.028896956	0.02298	0.039330557	0.04000	0.028896956	0.02298	0.039330557	0.04000	-3.284	0.13532	T	.	.	0.082	0.08512	B	.	.	1.161103	0.15498	11.90	0.65375454161823721	0.07755	0.02915	0.07720	N	AEFBI	0.037882	0.05277	N	-1.01051102498122	0.08385	0.3929562	-1.04374945077543	0.08837	0.4365128	0.0858566637835767	0.15993	0.651	0.46895	0	0.588015	0.36545	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	5.1	1.12	0.19700	0.109000	0.15252	-0.446000	0.09129	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.397000	0.26714	0.287:0.5543:0.0:0.1587	5.258	0.14874	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	717.33	30	chr12	96533807	.	C	T	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.787;DP=643;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-1.21;SOR=0.454	GT:AD:DP:GQ:PL	0/1:14,30:44:99:731,0,390	18	0	1	0
chr12	98727282	98727282	G	A	exonic	APAF1	.	nonsynonymous SNV	APAF1:NM_001160:exon25:c.G3404A:p.G1135D,APAF1:NM_181868:exon25:c.G3437A:p.G1146D,APAF1:NM_013229:exon26:c.G3533A:p.G1178D,APAF1:NM_181861:exon26:c.G3566A:p.G1189D	.	.	.	.	.	.	.	.	.	.	.	3562661	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0392164994622	.	.	2.472e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs765405502	1.163e-05	1.163e-05	1.225e-05	1.1e-05	2.319e-05	7.08e-06	5.79e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	2.319e-05	6.576e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.063	0.36709	T	0.551	0.09393	T	0.006	0.31978	B	0.018	0.22909	B	0.002435	0.36574	N	0.347401	1	0.81001	D	2.535	0.73915	M	-0.17	0.65563	T	-2.25	0.50337	N	0.327	0.48872	-0.6351	0.63354	T	0.234	0.60075	T	10	0.18430236	0.33798	T	0.039216	0.58681	D	0.157	0.40909	.	.	0.790118591363	0.78817	0.39469467592252777	0.39384	0.845957717966	0.68299	0.303241878748	0.10886	T	0.271068	0.64337	T	-0.153747	0.27726	T	-0.328172	0.41672	T	0.755026698112488	0.43568	D	0.863014	0.55989	D	0.29807246	0.52731	0.1475759	0.34919	0.29807246	0.52731	0.1475759	0.34918	-7.979	0.60927	D	.	.	0.154	0.46308	B	.;.;.;.;.;.	.;.;.;.;.;.	2.551951	0.33031	19.22	0.95156393557010854	0.26296	0.90867	0.52411	D	AEFBCI	0.196268	0.32325	N	0.038932373083772	0.43635	2.65256	0.13444933163276	0.46322	2.880174	0.992563170258761	0.32885	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	4.89	0.63387	1.631000	0.36704	5.579000	0.48964	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.964000	0.52637	0.1395:0.1406:0.7199:0.0	7.523	0.26806	878	0.29785	WD40-repeat-containing domain;.;.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1020.33	36	chr12	98727282	.	G	A	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.743;DP=714;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.419;SOR=0.598	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1034,0,1357	18	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	15440.0	33	chr12	111598993	.	C	*	15440.0	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.703;DP=844;ExcessHet=7.7183;FS=1.872;InbreedingCoeff=-0.3571;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=0;QD=21.9;ReadPosRankSum=0.258;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:38:63:1|0:111598949_GGCT_G:2054,1405,1436:111598949	17	0	2	0
chr12	112987143	112987143	C	T	exonic	OAS2	.	nonsynonymous SNV	OAS2:NM_001032731:exon2:c.C283T:p.R95C,OAS2:NM_002535:exon2:c.C283T:p.R95C,OAS2:NM_016817:exon2:c.C283T:p.R95C	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0231806798123	7.7e-05	.	4.119e-05	0.0002	0	0	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs371487128	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0003	1.456e-05	1.264e-05	6.092e-05	2.662e-05	0.0001	2.236e-05	0	0	0	0.0003	8.993e-06	9.934e-05	8.115e-05	3.286e-05	3.283e-05	2.569e-05	4.036e-05	0.0004	1.261e-05	7.98e-06	7.299e-05	3.032e-05	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.054	0.40068	T	0.093	0.44702	T	0.9	0.51285	P	0.2	0.44752	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	3.09	0.08371	T	-0.74	0.35194	N	0.198	0.24010	-0.9985	0.30339	T	0.014	0.05417	T	9	0.05977595	0.07239	T	0.023181	0.46126	T	0.050	0.13987	.	.	0.300110245524	0.29617	0.17804423107542441	0.17723	0.377942332906	0.39216	0.235299155116	0.02383	T	0.039786	0.25308	T	-0.481047	0.00729	T	-0.692098	0.06268	T	0.0386309996247292	0.03444	T	0.667533	0.42156	T	0.14893086	0.33977	0.04725113	0.06766	0.14893086	0.33976	0.04725113	0.06765	-4.531	0.41989	T	.	.	0.139	0.31431	B	.;.;.;.	.;.;.;.	0.333745	0.07076	3.646	0.99649306447089536	0.77192	0.03453	0.08599	N	AEFGBI	0.052818	0.09463	N	-0.78084680591607	0.13810	0.6830345	-0.944924840361482	0.11041	0.5600496	0.997750775963546	0.35989	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	3.85	-0.637	0.10926	-1.564000	0.02256	-6.737000	0.01319	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1767:0.3719:0.3453:0.1061	2.679	0.04774	182	0.92924	2-5-oligoadenylate synthetase, N-terminal;.;.;2-5-oligoadenylate synthetase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1357.33	35	chr12	112987143	.	C	T	1357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.321;DP=1229;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.14;SOR=0.644	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1371,0,1789	18	0	1	0
chr12	113358755	113358755	A	G	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_001159727:exon1:c.A155G:p.D52G,PLBD2:NM_173542:exon1:c.A155G:p.D52G	.	438	1059	22	3	0	28	0.0130475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0021	0.00459265	0.0177	0	0	0	0	0.0264	0	0.0206	0.0018564	287	154602	rs200189038	0.0058	0.0055	0.0056	0.0061	0.0157	0.0057	0.0057	0.0149	0.0145	0.0004	0.0031	0.0129	0	0.0028	0.0105	0.0056	0.0058	0.0157	0.0045	0.0045	0.0043	0.0047	0.0162	0.0042	0.0041	0.0133	0.0122	0.0010	0	0.0039	0.0130	0.0004	0.0018	0.0137	0.0062	0.0047	0.0162	0.283	0.17069	T	0.496	0.12704	T	0.0	0.02946	B	0.001	0.04355	B	0.047936	0.01979	N	2.507700	1	0.08975	N	0.29	0.10111	N	2.23	0.18083	T	-0.01	0.07155	N	0.058	0.02964	-1.0125	0.26133	T	0.021	0.08686	T	10	0.0035566092	0.00064	T	.	.	.	0.052	0.14661	.	.	0.0920862733494	0.08535	0.33637053039387116	0.33550	0.470108560931	0.46299	0.632033109665	0.57433	T	0.004557	0.03968	T	-0.713791	0.00030	T	-0.792961	0.02084	T	0.00700592945269222	0.00080	T	0.272373	0.04609	T	0.11113813	0.26266	0.05130903	0.08232	0.11113813	0.26266	0.05130903	0.08232	-2.822	0.08388	T	.	.	0.059	0.00820	B	.;.	.;.	0.241555	0.06217	2.669	0.8070310520174433	0.13328	0.03588	0.08809	N	ALL	0.035199	0.04490	N	-1.25460861235835	0.04239	0.190929	-1.27970032880337	0.04705	0.2225803	0.999999999999881	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	3.28	-0.459	0.11571	-0.179000	0.09761	-0.178000	0.11160	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5822:0.0:0.4178:0.0	5.786	0.17597	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005624	0.012195	0.000000	0.003125	0.000000	0.030000	0.027778	0.000000	0.02632	831.33	38	chr12	113358755	.	A	G	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.632;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.449;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,34:57:99:0|1:113358755_A_G:845,0,562:113358755	18	0	1	0
chr12	121781000	121781000	G	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon4:c.C343A:p.P115T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.765	0.165254391313	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336727204	3.421e-06	3.42e-06	4.085e-06	2.751e-06	0.0001	1e-06	7.3e-07	4.907e-05	3.165e-05	0	0	0	0.0001	0	0	0	0	0	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	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	2.12	0.58754	M	-0.99	0.75911	T	-4.84	0.81030	D	0.804	0.85979	0.332	0.88062	D	0.615	0.86393	D	10	0.8051459	0.79863	D	0.165254	0.84417	D	0.765	0.92046	0.565	0.68633	0.961065167615	0.96064	0.7379060640832885	0.73735	0.96573607382	0.73167	0.613409638405	0.54798	T	0.489663	0.84056	T	0.129556	0.67317	D	0.11745	0.78066	D	0.995060384273529	0.86768	D	0.983202	0.94289	D	0.750148	0.80877	0.6523802	0.79656	0.750148	0.80878	0.6523802	0.79657	-9.451	0.70554	D	.	.	0.719	0.79954	P	.;.;.;.;.	.;.;.;.;.	5.181505	0.86881	29.1	0.99762829126402486	0.85172	0.96916	0.71642	D	AEFDGBCI	0.892745	0.82998	D	0.918028604366899	0.92614	11.52593	0.879665455336744	0.94623	12.90823	0.999999999999999	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	9.602000	0.97623	11.615000	0.93574	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.605	0.91218	662	0.61715	Small GTP-binding protein 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	1718.33	34	chr12	121781000	.	G	T	1718.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.575;DP=755;ExcessHet=0;FS=3.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.134;SOR=0.891	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1732,0,1559	18	0	1	0
chr12	123881722	123881722	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon50:c.G8378A:p.R2793H,DNAH10:NM_001372106:exon51:c.G8732A:p.R2911H	.	441	1078	2	0	1	3	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	.	.	0.00379393	0.0005	0	0	0.0114	0	0	0	0.0004	0.0003169	49	154602	rs148844278	0.0005	0.0005	0.0005	0.0005	0.0163	0.0004	0.0004	0.0152	0.0148	3.186e-05	0	0	0.0163	0	0.0002	1.392e-05	0.0004	0.0005	0.0005	0.0005	0.0003	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	0	0	6.539e-05	0	0.0122	0	0	0	0	0.0017	.	.	.	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	U	0.000000	1	0.81001	D	3.47	0.92451	M	.	.	.	.	.	.	.	.	-0.3469	0.73643	T	0.223	0.58716	T	10	0.009575784	0.00216	T	.	.	.	0.507	0.78786	.	.	0.454518106513	0.45074	0.5752456759433772	0.57453	0.711114697105	0.61715	0.750028073788	0.74451	T	0.114717	0.43276	T	-0.14283	0.29441	T	0.0324467	0.72436	D	0.150729462494159	0.17162	T	0.978502	0.92407	D	0.4999333	0.67092	0.34389186	0.60094	0.4999333	0.67093	0.34389186	0.60093	-9.08	0.68210	D	.	.	0.311	0.53853	B	.;.	.;.	4.448065	0.69123	25.3	0.99941352769204594	0.99797	0.99032	0.90231	D	AEFDBI	0.883927	0.81321	D	0.813170060852348	0.86922	9.043726	0.695086003888413	0.82003	7.661236	0.999999999217189	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.68	5.68	0.88021	10.003000	0.99689	9.758000	0.81499	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.0:0.0:1.0:0.0	19.859	0.96774	667	0.61242	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	0.001784	0.000000	0.005300	0.000000	0.000000	0.000000	0.003571	0.000000	0.02632	1286.33	42	chr12	123881722	.	G	A	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.896;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.51;SOR=0.749	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1300,0,1199	18	0	1	0
chr12	124012566	124012566	A	G	exonic	ZNF664	.	nonsynonymous SNV	ZNF664:NM_001204298:exon5:c.A422G:p.K141R,ZNF664:NM_152437:exon5:c.A422G:p.K141R	.	410	1021	91	0	0	91	0.0426629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0055	0.0109824	0.0125	0.0008	0.0078	0	0.0011	0.0108	0.0188	0.0410	0.0112547	1740	154602	rs150362388	0.0088	0.0090	0.0078	0.0098	0.0396	0.0087	0.0086	0.0385	0.0380	0.0010	0.0061	0.0409	2.519e-05	0.0022	0.0243	0.0063	0.0130	0.0396	0.0067	0.0070	0.0060	0.0074	0.0446	0.0064	0.0062	0.0397	0.0378	0.0010	0.0618	0.0057	0.0414	0	0.0010	0.0204	0.0066	0.0066	0.0446	0.048	0.40068	D	0.05	0.48080	T	0.998	0.73220	D	0.956	0.69739	D	0.000711	0.42254	D	0.000000	0.995453	0.42699	D	0.47	0.13106	N	1.83	0.24841	T	-2.33	0.51646	N	0.019	0.00279	-1.0759	0.08164	T	0.069	0.28147	T	10	0.004956186	0.00106	T	.	.	.	0.164	0.42212	.	.	.	.	0.0231800799893291	0.02270	1.82181212601	0.91961	0.833988547325	0.87174	D	0.030176	0.21449	T	-0.433228	0.01418	T	-0.389105	0.34655	T	0.0161618254466552	0.00392	T	0.773923	0.40554	T	0.10536492	0.24911	0.120088995	0.28984	0.10536492	0.24911	0.120088995	0.28983	-6.775	0.52373	T	.	.	0.224	0.46458	B	.;.;.;.	.;.;.;.	3.907745	0.56965	23.8	0.99852841245123192	0.93191	0.97984	0.78636	D	AEFBI	0.688240	0.64931	D	0.467145638787452	0.65182	4.790512	0.456292471123958	0.65122	4.784035	0.999996081217093	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.148000	0.41859	8.602000	0.77731	0.658000	0.54486	0.927000	0.32177	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.974	0.52370	749	0.51929	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	0.017623	0.005051	0.010870	0.014620	0.000000	0.008621	0.024390	0.045455	0.05263	1810.83	37	chr12	124012566	.	A	G	1810.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.251;DP=886;ExcessHet=0.119;FS=0.997;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-0.703;SOR=0.775	GT:AD:DP:GQ:PL	0/1:96,37:133:99:773,0,2846	17	0	2	0
chr12	128927120	128927120	A	C	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366888:exon4:c.A173C:p.E58A,GLT1D1:NM_001366887:exon7:c.A455C:p.E152A,GLT1D1:NM_001366886:exon8:c.A581C:p.E194A,GLT1D1:NM_001366889:exon9:c.A629C:p.E210A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	.	.	0.00778754	0.0003	0	0.0106	0	0	0	0.0076	0.0001	0.0008926	138	154602	rs139447877	0.0014	0.0013	0.0015	0.0012	0.0392	0.0013	0.0013	0.0375	0.0368	0.0003	0.0392	0	0.0086	2.952e-05	0.0004	5.748e-05	0.0012	0.0002	0.0025	0.0025	0.0022	0.0028	0.0210	0.0023	0.0022	0.0191	0.0184	0.0004	0	0.0210	0	0.0052	9.438e-05	0	0.0001	0.0038	0.0004	0.039	0.46513	D	0.022	0.57587	D	0.452	0.36118	B	0.108	0.31289	B	.	.	.	.	1	0.81001	D	1.165	0.29723	L	-1.03	0.76430	T	-2.99	0.62151	D	0.271	0.31253	-1.0135	0.25816	T	0.093	0.35336	T	8	0.008359253	0.00190	T	.	.	.	0.389	0.70521	.	.	0.534140917371	0.53064	.	.	.	.	.	.	.	0.432564	0.78029	T	-0.344643	0.05073	T	-0.237845	0.51009	T	0.0168371689370141	0.00437	T	0.90371	0.66210	D	0.12503606	0.29321	0.14630333	0.34666	0.12503606	0.29321	0.14630333	0.34665	-6.791	0.52492	T	.	.	0.112	0.28550	B	.;.	.;.	2.597075	0.33703	19.42	0.98407296399350919	0.41137	0.72431	0.35452	D	AEFBI	0.292905	0.40366	N	-0.291633536655326	0.29470	1.634559	-0.251079824583766	0.29735	1.668296	0.00106912330657544	0.08183	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.89	3.72	0.41857	2.566000	0.45611	5.438000	0.48612	0.756000	0.94297	0.980000	0.35271	1.000000	0.68203	0.189000	0.21571	0.792:0.208:0.0:0.0	8.435	0.31945	994	0.00715	Glycosyl transferase, family 1;Glycosyl transferase, family 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	1026.33	33	chr12	128927120	.	A	C	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.624;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.215;SOR=0.686	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1040,0,1090	18	0	1	0
chr12	132677403	132677403	G	A	exonic	POLE	.	nonsynonymous SNV	POLE:NM_006231:exon8:c.C761T:p.P254L	FILS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	462233	Hereditary_cancer-predisposing_syndrome|POLE-related_disorder|not_specified|Polymerase_proofreading-related_adenomatous_polyposis|Familial_colorectal_cancer_type_X|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374|MONDO:MONDO:0018653,MedGen:C0130294,Orphanet:447877|MONDO:MONDO:0018604,MedGen:C3896578,Orphanet:440437|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.297	0.0128787333386	.	0.000399361	0.0002	9.61e-05	8.639e-05	0.0001	0	0	0	0.0016	0.000207	32	154602	rs200211438	9.577e-05	9.645e-05	7.351e-05	0.0001	0.0013	8.242e-05	7.783e-05	0.0011	0.0011	2.987e-05	0	0	2.519e-05	0	0	3.597e-06	0.0003	0.0013	8.545e-05	8.533e-05	2.572e-05	0.0001	0.0025	4.959e-05	3.964e-05	0.0014	0.0011	0	0	6.543e-05	0	0	0	0	0	0	0.0025	0.082	0.33254	T	0.251	0.23776	T	0.589	0.39027	P	0.099	0.30579	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.725	0.44537	L	3.02	0.08986	T	-6.19	0.90332	D	0.87	0.86725	-1.0425	0.16562	T	0.026	0.11220	T	10	0.15959802	0.29983	T	0.012879	0.31834	T	0.297	0.61730	.	.	0.510872562601	0.50726	0.5469154218592532	0.54617	0.252944212438	0.27862	0.665792942047	0.62238	T	0.377036	0.74030	T	-0.211641	0.19148	T	-0.0957982	0.63721	T	0.156351227009973	0.17598	T	0.827017	0.49049	T	0.20831336	0.43064	0.29710004	0.55743	0.19223946	0.40885	0.27367914	0.53288	-9.087	0.68254	D	.	.	0.127	0.27100	B	.;.	.;.	3.959428	0.58061	23.9	0.91686288816630956	0.20978	0.99661	0.98441	D	AEFDGBI	0.846045	0.76294	D	0.234728798985761	0.52888	3.460346	0.314929910575516	0.56418	3.804931	0.999999999999955	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.953000	0.98977	8.599000	0.77719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	19.707	0.96071	906	0.23090	DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2159.33	33	chr12	132677403	.	G	A	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=791;ExcessHet=0;FS=4.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.254;SOR=1.075	GT:AD:DP:GQ:PL	0/1:77,86:163:99:2173,0,1738	18	0	1	0
chr13	20703626	20703626	G	C	exonic	IL17D	.	nonsynonymous SNV	IL17D:NM_001385222:exon1:c.G14C:p.G5A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350039667	0	5.155e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	87.58	.	chr13	20703626	.	G	C	87.58	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.834;DP=88;ExcessHet=0;FS=0;InbreedingCoeff=-0.0623;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.341;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,4:6:64:100,0,64	17	0	1	1
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|1:201,30:231:99:0|1:25097005_A_G:655,0,8350:25097005	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,30:231:99:0|1:25097005_A_G:655,0,8350:25097005	7	0	12	0
chr13	25257198	25257198	T	C	exonic	MTMR6	.	nonsynonymous SNV	MTMR6:NM_001385233:exon8:c.A964G:p.M322V,MTMR6:NM_001385234:exon8:c.A958G:p.M320V,MTMR6:NM_001385237:exon8:c.A958G:p.M320V,MTMR6:NM_001385238:exon8:c.A685G:p.M229V,MTMR6:NM_001385231:exon9:c.A1039G:p.M347V,MTMR6:NM_001385235:exon9:c.A1093G:p.M365V,MTMR6:NM_001385236:exon9:c.A1093G:p.M365V,MTMR6:NM_004685:exon9:c.A1093G:p.M365V,MTMR6:NM_001385230:exon10:c.A1207G:p.M403V	.	431	1090	1	0	0	1	0.000458505	0.2467	0.388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.666	.	0.0002	0.00259585	0.0013	0.0004	0	0.0173	0	0	0.0012	0.0007	0.001119	173	154602	rs75005059	0.0005	0.0005	0.0005	0.0005	0.0144	0.0005	0.0005	0.0134	0.0130	0.0001	2.243e-05	0	0.0144	0	0	4.499e-06	0.0013	0.0011	0.0007	0.0007	0.0006	0.0008	0.0154	0.0006	0.0005	0.0127	0.0117	0.0003	0	6.537e-05	0	0.0154	0	0	5.88e-05	0	0.0014	0.035	0.43708	D	0.214	0.26386	T	0.94	0.52768	P	0.706	0.54345	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-2.59	0.89822	D	-2.97	0.61865	D	0.619	0.63459	0.359	0.88482	D	0.628	0.86956	D	10	0.01262942	0.00271	T	.	.	.	0.666	0.87576	.	.	0.913267921431	0.91239	0.6286672643479237	0.62799	0.504501105802	0.48728	0.602451682091	0.53251	T	0.51677	0.83024	D	-0.134019	0.30846	T	0.0470392	0.73389	D	0.0602313799553728	0.07206	T	0.967203	0.88094	D	0.8078908	0.84415	0.59647226	0.76569	0.8078908	0.84416	0.59647226	0.76570	-7.466	0.57371	T	.	.	0.208	0.43489	B	.	.	4.121999	0.61622	24.4	0.9877719739399593	0.46065	0.98000	0.78766	D	AEFBI	0.665255	0.63414	D	0.461232186652282	0.64842	4.748233	0.467593775014284	0.65855	4.876705	0.999949707609077	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.49	4.29	0.50359	5.006000	0.63731	2.917000	0.35542	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0709:0.0:0.9291	11.627	0.50410	793	0.45818	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	803.33	34	chr13	25257198	.	T	C	803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=724;ExcessHet=0;FS=0.809;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-1.551;SOR=0.803	GT:AD:DP:GQ:PL	0/1:60,35:95:99:817,0,1479	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	0/1:96,54:160:99:112,0,1636	6	0	12	1
chr13	38880461	38880461	G	T	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon24:c.G9184T:p.A3062S	Fraser syndrome, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	336394	not_provided|Fraser_syndrome_2|FREM2-related_disorder	MedGen:C3661900|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.065	.	7.7e-05	0.00219649	0.0018	0.0003	0.0002	0	0.0002	4.496e-05	0.0033	0.0128	0.0015588	241	154602	rs140456319	0.0008	0.0008	0.0005	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	5.974e-05	0	0	0	3.744e-05	0.0003	4.496e-05	0.0009	0.0119	0.0004	0.0004	0.0002	0.0005	0.0115	0.0003	0.0003	0.0090	0.0082	0	0	0	0	0	0	0	1.471e-05	0	0.0115	0.003	0.68238	D	0.055	0.46862	T	.	.	.	.	.	.	0.000102	0.50451	D	0.174967	0.925975	0.36821	D	.	.	.	2.07	0.20387	T	-1.52	0.36980	N	0.183	0.19861	-1.0423	0.16621	T	0.069	0.28247	T	10	0.0035012364	0.00062	T	.	.	.	0.065	0.18881	.	.	0.277730125212	0.27379	0.39627853768029075	0.39542	0.113228077382	0.12776	0.267387449741	0.05803	T	.	.	.	-0.455217	0.01052	T	-0.416276	0.31502	T	0.0568825764688426	0.06669	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13550	B	.	.	1.406927	0.18215	13.61	0.99161152948250986	0.54099	0.84311	0.43393	D	AEFBHI	0.358037	0.44885	N	-0.30993620807796	0.28770	1.589653	-0.302232783971219	0.28026	1.559482	0.974616401599033	0.29558	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.663205	0.64265	0	.	.	6.04	5.2	0.71720	3.486000	0.52979	5.036000	0.46868	0.676000	0.76740	0.506000	0.27002	0.999000	0.35428	0.380000	0.26335	0.1392:0.0:0.8608:0.0	11.139	0.47616	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2712.33	33	chr13	38880461	.	G	T	2712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.301;DP=812;ExcessHet=0;FS=1.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.936;SOR=0.726	GT:AD:DP:GQ:PL	0/1:80,106:186:99:2726,0,1878	18	0	1	0
chr13	40941252	40941252	C	T	exonic	ELF1	.	nonsynonymous SNV	ELF1:NM_001145353:exon7:c.G853A:p.E285K,ELF1:NM_001370330:exon8:c.G925A:p.E309K,ELF1:NM_001370331:exon8:c.G925A:p.E309K,ELF1:NM_172373:exon8:c.G925A:p.E309K,ELF1:NM_001370329:exon9:c.G748A:p.E250K,ELF1:NM_001370332:exon10:c.G925A:p.E309K	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0172996340668	.	0.000399361	0.0002	0	0	0	0	1.498e-05	0	0.0015	0.0001746	27	154602	rs532698900	5.404e-05	5.404e-05	3.539e-05	7.288e-05	0.0009	4.41e-05	4.082e-05	0.0007	0.0007	0	0	0	0	0	0	0	4.967e-05	0.0009	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0005	0.0008	0.017	0.51248	D	0.238	0.28764	T	0.952	0.54136	P	0.601	0.50808	P	0.000001	0.84330	D	0.053605	0.998846	0.51308	D	2.045	0.56016	M	0.57	0.54347	T	-1.52	0.36980	N	0.402	0.45426	-0.7669	0.57027	T	0.191	0.54345	T	10	0.03274399	0.01432	T	0.017	0.38942	T	0.106	0.30130	0.372	0.38340	0.332801854358	0.32887	0.4208882438413937	0.42004	0.306447022474	0.32941	0.554910063744	0.46549	T	0.151684	0.49174	T	-0.338768	0.05474	T	-0.304945	0.44201	T	0.149760110865348	0.17085	T	0.905309	0.67793	D	0.22403842	0.45037	0.26293185	0.52092	0.22403842	0.45037	0.26293185	0.52091	-5.101	0.37918	T	.	.	0.183	0.39697	B	.;.;.	.;.;.	3.712323	0.53000	23.3	0.9992695840723187	0.99163	0.99206	0.92796	D	AEFBI	0.648242	0.62313	D	0.497447420841467	0.66941	5.015755	0.555012876166892	0.71748	5.702166	0.999999951893904	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	3.782000	0.55107	6.005000	0.52551	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.689	0.95989	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	35	chr13	40941252	.	C	T	1755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.091;DP=775;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=1.15;SOR=0.477	GT:AD:DP:GQ:PL	0/1:44,61:105:99:1769,0,1123	18	0	1	0
chr13	41132492	41132492	G	A	exonic	KBTBD6	.	nonsynonymous SNV	KBTBD6:NM_152903:exon1:c.C20T:p.A7V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	0.0004	0.00319489	0.0015	0.0002	0.0002	0.0191	0	7.552e-05	0.0022	6.193e-05	0.001326	205	154602	rs200762614	0.0006	0.0006	0.0006	0.0006	0.0203	0.0006	0.0006	0.0191	0.0186	0.0003	8.944e-05	0	0.0203	0	0.0005	1.619e-05	0.0009	4.638e-05	0.0008	0.0008	0.0007	0.0008	0.0175	0.0006	0.0006	0.0146	0.0136	0.0004	0	0.0002	0	0.0175	0	0	4.411e-05	0	0.0002	0.131	0.26629	T	0.647	0.06812	T	0.001	0.07471	B	0.001	0.04355	B	0.017898	0.27612	N	0.167338	1	0.08975	N	0.55	0.14455	N	-1.0	0.76037	T	-0.51	0.15986	N	0.091	0.06990	-0.9367	0.43134	T	0.115	0.40875	T	10	0.002339065	0.00034	T	.	.	.	0.207	0.49555	.	.	0.292174397486	0.28832	0.5047263291960831	0.50394	0.965204057572	0.73154	0.413711667061	0.26969	T	0.018571	0.14948	T	-0.395255	0.02487	T	-0.325597	0.41957	T	0.010826278477565	0.00154	T	0.631737	0.24648	T	0.113632776	0.26835	0.2153217	0.46116	0.113632776	0.26835	0.2153217	0.46115	-4.156	0.26112	T	.	.	0.076	0.06024	B	.	.	2.573573	0.33351	19.32	0.9948626163197023	0.67180	0.01097	0.04030	N	ALL	0.046258	0.07661	N	-0.554986457393315	0.20327	1.070772	-0.427714288609832	0.24188	1.323142	0.999999999877399	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.86	3.86	0.43689	1.677000	0.37192	3.077000	0.36224	0.373000	0.20310	0.012000	0.18695	0.306000	0.24247	0.982000	0.59238	0.0:0.0:1.0:0.0	11.475	0.49536	592	0.68746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1317.33	38	chr13	41132492	.	G	A	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.109;DP=840;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.019;SOR=0.905	GT:AD:DP:GQ:PL	0/1:64,52:116:99:1331,0,1776	18	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:109,34:149:97:97,0,2000	6	0	13	0
chr13	98021002	98021002	A	G	exonic	IPO5	.	nonsynonymous SNV	IPO5:NM_002271:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00480462995933	.	0.000399361	0.0002	0	8.639e-05	0.0001	0	4.496e-05	0	0.0012	0.0001746	27	154602	rs566380360	8.928e-05	9.03e-05	5.603e-05	0.0001	0.0012	7.652e-05	7.195e-05	0.0010	0.0009	3.02e-05	2.289e-05	3.833e-05	2.545e-05	5.619e-05	0.0002	1.713e-05	8.311e-05	0.0012	7.881e-05	7.875e-05	8.997e-05	6.715e-05	0.0015	4.495e-05	3.511e-05	0.0007	0.0005	2.407e-05	0	0	0	0	0	0	4.411e-05	0.0005	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000001	0.84330	N	0.092240	0.990263	0.41739	D	-0.08	0.04796	N	3.02	0.08986	T	0.1	0.05810	N	0.178	0.19190	-0.9557	0.39970	T	0.011	0.04227	T	10	0.013035625	0.00278	T	0.004805	0.12004	T	0.163	0.42028	0.355	0.35571	0.171220215726	0.16700	0.12087714163340939	0.12014	0.292155956161	0.31621	0.369780659676	0.20800	T	0.049676	0.28376	T	-0.617259	0.00114	T	-0.709867	0.05302	T	0.012555805966258	0.00208	T	0.676832	0.28555	T	0.049838804	0.08912	0.040826984	0.04502	0.049838804	0.08912	0.040826984	0.04502	-4.254	0.27527	T	.	.	0.050	0.00127	B	.;.;.	.;.;.	1.704563	0.21711	15.32	0.46774431772074432	0.03772	0.91480	0.53620	D	AEFBI	0.523213	0.54690	D	-0.675153142165468	0.16730	0.8550176	-0.467337747591022	0.23060	1.255594	0.999795495801782	0.43153	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	1.75	0.23707	2.103000	0.41430	0.599000	0.19904	0.756000	0.94297	0.940000	0.32642	0.002000	0.18203	0.994000	0.71098	0.7442:0.0:0.2558:0.0	10.357	0.43154	549	0.72275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.007576	0.02632	1292.33	34	chr13	98021002	.	A	G	1292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.809;DP=797;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.996;SOR=0.748	GT:AD:DP:GQ:PL	0/1:97,63:160:99:1306,0,2366	18	0	1	0
chr13	113654922	113654922	C	T	exonic	ATP4B	.	nonsynonymous SNV	ATP4B:NM_000705:exon2:c.G133A:p.V45M	.	435	1052	35	0	0	35	0.0163628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	.	0.0018	0.00219649	0.0046	0.0002	0.0011	0	0.0005	0.0025	0.0110	0.0218	0.0039197	606	154602	rs142885298	0.0029	0.0029	0.0022	0.0035	0.0213	0.0028	0.0028	0.0205	0.0202	0.0003	0.0013	0.0172	5.038e-05	0.0004	0.0206	0.0013	0.0043	0.0213	0.0020	0.0020	0.0017	0.0023	0.0182	0.0018	0.0017	0.0151	0.0140	0.0002	0	0.0010	0.0144	0.0006	0.0004	0.0068	0.0017	0.0047	0.0182	0.026	0.46910	D	0.091	0.40110	T	0.991	0.64070	D	0.905	0.64260	P	0.024629	0.26229	N	0.288040	0.615678	0.32660	D	2.56	0.74772	M	1.17	0.37910	T	-0.29	0.11728	N	0.219	0.24510	-0.4967	0.68769	T	0.191	0.54286	T	10	0.00927794	0.00210	T	.	.	.	0.195	0.47612	.	.	0.564651752942	0.56128	0.5015984315122252	0.50081	0.428974533343	0.43203	0.620959222317	0.55864	T	0.121961	0.44530	T	-0.470027	0.00850	T	-0.431682	0.29744	T	0.0578959192080709	0.06833	T	0.856014	0.54441	D	0.11131314	0.26305	0.11781726	0.28442	0.11131314	0.26305	0.11781726	0.28441	-6.068	0.46844	T	.	.	0.123	0.25817	B	.	.	4.616775	0.73272	26.0	0.99884775725049157	0.96049	0.76793	0.37692	D	AEFDGBHCI	0.369389	0.45614	N	0.451620711280182	0.64295	4.680807	0.364439385245441	0.59383	4.115586	0.999998593535094	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.02	3.15	0.35301	2.926000	0.48587	4.576000	0.43900	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8322:0.1678:0.0	12.697	0.56378	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	0.010574	0.010101	0.006793	0.008772	0.000000	0.000000	0.021341	0.011364	0.05263	2804.83	34	chr13	113654922	.	C	T	2804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.201;DP=966;ExcessHet=0.119;FS=1.436;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.069;SOR=0.788	GT:AD:DP:GQ:PL	0/1:74,56:130:99:1232,0,1769	17	0	2	0
chr14	19921398	19921398	C	G	exonic	OR4K5	.	nonsynonymous SNV	OR4K5:NM_001005483:exon1:c.C792G:p.I264M	.	.	.	.	.	.	.	.	.	.	.	2297287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.0032385992054	.	.	8.238e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs753759911	1.026e-05	1.231e-05	4.084e-06	1.65e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	3.272e-05	0	0	0	0	0	0.0003	0	8.28e-05	9.275e-05	1.314e-05	1.313e-05	0	2.689e-05	6.547e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.547e-05	0	0	0	0	0	0	0	0.054	0.38633	T	0.02	0.58613	D	0.32	0.32998	B	0.069	0.27757	B	0.300805	0.14602	N	0.605017	1	0.08975	N	1.11	0.28643	L	1.11	0.38883	T	0.42	0.03352	N	0.114	0.10198	-1.0485	0.14818	T	0.062	0.25744	T	10	0.076812595	0.12047	T	0.003239	0.07147	T	0.026	0.05648	0.345	0.33950	0.372087925617	0.36815	0.04794117113228723	0.04737	0.00230504125883	0.00198	0.239634752274	0.02758	T	0.001923	0.01337	T	-0.398494	0.02369	T	-0.628658	0.10516	T	0.131872743368149	0.15554	T	0.442956	0.12306	T	0.067266166	0.14551	0.06679155	0.13731	0.067266166	0.14551	0.06679155	0.13730	-4.253	0.27513	T	.	.	0.098	0.16275	B	.	.	0.777658	0.11479	8.080	0.48381477633430409	0.04033	0.11191	0.16469	N	AEFGBI	0.066226	0.12958	N	-0.892608642708875	0.11017	0.5294549	-0.982559354212176	0.10177	0.5109119	0.928880584744281	0.26946	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.38	-0.469	0.11536	-0.287000	0.08423	-20.000000	0.00162	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.950000	0.49671	0.0:0.3959:0.0:0.6041	8.293	0.31125	988	0.01987	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1767.33	33	chr14	19921398	.	C	G	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=947;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.4;ReadPosRankSum=0.249;SOR=0.837	GT:AD:DP:GQ:PL	0/1:196,80:276:99:1781,0,5672	18	0	1	0
chr14	22875648	22875648	G	A	exonic	LRP10	.	nonsynonymous SNV	LRP10:NM_001329226:exon5:c.G700A:p.V234M,LRP10:NM_014045:exon5:c.G700A:p.V234M	.	418	1101	3	0	0	3	0.00136054	.	.	.	2378183	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00838133348697	0.0002	.	0.0003	0	0.0002	0.0001	0	0.0002	0.0022	0.0007	0.0002652	41	154602	rs371755191	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0003	0.0009	0.0008	0.0001	0.0002	7.652e-05	0.0002	0	0.0007	0.0003	0.0004	0.0011	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	0.0001	0	0	0	0.0002	0	0	0.0003	0	0.0010	0.005	0.65419	D	0.012	0.65728	D	0.999	0.77913	D	0.921	0.65636	D	0.000075	0.52346	D	0.130664	0.631194	0.30697	N	1.59	0.40313	L	2.24	0.17923	T	0.03	0.06612	N	0.41	0.45803	-0.9855	0.33711	T	0.078	0.31072	T	10	0.095564544	0.17078	T	0.008381	0.22181	T	0.152	0.39956	.	.	0.404453528171	0.40057	0.40637327055430866	0.40553	0.861056035107	0.68957	0.482477903366	0.36398	T	0.02444	0.18465	T	-0.397867	0.02391	T	-0.389836	0.34570	T	0.0995702296495438	0.12310	T	0.876912	0.58964	D	0.5594662	0.70481	0.5018372	0.71202	0.5594662	0.70482	0.5018372	0.71202	-6.515	0.50402	T	.	.	0.530	0.67195	A	.;.	.;.	4.915878	0.80924	27.4	0.9988294398179739	0.95892	0.83657	0.42760	D	AEFBCI	0.322722	0.42513	N	0.62681101258359	0.74877	6.207772	0.636322137877727	0.77595	6.709854	0.999996354944527	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	4.008000	0.56815	11.916000	0.99706	0.676000	0.76740	0.981000	0.35396	1.000000	0.68203	0.988000	0.63387	0.0809:0.1571:0.7619:0.0	8.408	0.31786	801	0.44448	CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1728.33	34	chr14	22875648	.	G	A	1728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.467;DP=744;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.308;SOR=0.618	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1742,0,1420	18	0	1	0
chr14	24210768	24210768	C	T	exonic	CHMP4A	.	nonsynonymous SNV	CHMP4A:NM_014169:exon4:c.G360A:p.M120I	.	.	.	.	.	.	.	.	0.9084	0.506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	.	.	.	1.648e-05	0	0	0	0	0	0.0022	0	1.29e-05	2	154602	rs766509120	8.234e-06	9.577e-06	1.366e-06	1.516e-05	0.0001	4.39e-06	3.47e-06	8.003e-05	6.241e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.095	0.44905	T	0.182	0.29148	B	0.241	0.38645	B	0.000014	0.62929	D	0.000000	0.99168	0.41448	D	1.505	0.38159	L	-0.81	0.73949	T	-0.06	0.56945	N	0.501	0.53357	-0.4153	0.71541	T	0.341	0.70648	T	10	0.2197038	0.38647	T	0.013161	0.32344	T	0.302	0.62290	0.623	0.75803	0.452928561435	0.44915	.	.	0.0479613458695	0.05229	0.446270495653	0.31435	T	0.49301	0.81674	T	-0.177364	0.24128	T	-0.232869	0.51493	T	0.315174923777864	0.25625	T	.	.	.	0.28712896	0.51725	0.33679247	0.59477	0.28712896	0.51725	0.33679247	0.59476	-5.844	0.44956	T	.	.	0.456	0.64943	A	.;.;.;.;.	.;.;.;.;.	3.827839	0.55313	23.6	0.99459546038036106	0.65736	0.96372	0.68816	D	AEFBI	0.748940	0.69053	D	0.0673841681497322	0.44945	2.75953	0.159336699449558	0.47640	2.99111	0.999999618190166	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	4.17	0.48303	3.339000	0.51853	3.551000	0.39048	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1768:0.8232:0.0:0.0	12.277	0.54063	895	0.25842	.;.;.;.;.	.	.	.	.	.	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	940.33	39	chr14	24210768	.	C	T	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.828;DP=963;ExcessHet=0;FS=1.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.506;SOR=0.855	GT:AD:DP:GQ:PL	0/1:69,43:112:99:954,0,1809	18	0	1	0
chr14	31337527	31337527	A	C	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon22:c.T3316G:p.S1106A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0120642023429	.	.	0.0001	0	0.0018	0	0	0	0	0.0002	1.94e-05	3	154602	rs778363643	1.133e-05	1.094e-05	6.996e-06	1.576e-05	0.0002	6.71e-06	5.43e-06	0.0001	9.294e-05	0	0	0	0	0	0	0	1.705e-05	0.0002	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.088	0.32296	T	0.121	0.35840	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999573	0.50061	D	.	.	.	3.1	0.08283	T	-0.42	0.14193	N	0.536	0.56403	-1.1360	0.01515	T	0.072	0.29130	T	10	0.11871934	0.22450	T	0.012064	0.30290	T	0.145	0.38592	.	.	0.128392430309	0.12331	0.1793666635149359	0.17855	.	.	0.602593064308	0.53271	T	0.026611	0.19659	T	-0.286281	0.10012	T	-0.384571	0.35186	T	0.43517142534256	0.30251	T	0.773923	0.40554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10691	B	.	.	4.352608	0.66871	25.0	0.99496927174605332	0.67801	0.98903	0.88402	D	AEFDBI	0.841794	0.75896	D	0.627738734274312	0.74937	6.218	0.642850663762288	0.78079	6.804702	0.999999997683112	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.3	5.3	0.74745	8.333000	0.89937	8.116000	0.76608	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.238	0.73136	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1049.33	35	chr14	31337527	.	A	C	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=731;ExcessHet=0;FS=2.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=2.41;SOR=1.029	GT:AD:DP:GQ:PL	0/1:60,46:106:99:1063,0,1390	18	0	1	0
chr14	31398782	31398782	C	G	splicing	HEATR5A	NM_015473:exon4:c.339-1G>C	.	.	.	450	1071	1	0	0	1	0.000466636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0052	0	0	0	0	0.0001	1.29e-05	2	154602	rs771745425	1.199e-05	1.095e-05	7.428e-06	1.665e-05	0.0002	7.1e-06	5.75e-06	0.0001	8.671e-05	0	0	0	0	0	0.0002	0	1.777e-05	0.0002	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.040692	0.45847	T	-0.0479187	0.67165	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.878470	0.93920	33	0.99523357403488599	0.69407	0.99821	0.99681	D	AEFBHI	.	.	.	0.485722656892933	0.66257	4.926709	0.587173106707337	0.74020	6.066516	0.999999999999994	0.74766	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.109871	0.03346	0	0.986153	0.94148	5.83	5.83	0.93059	7.712000	0.83637	5.858000	0.50403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.119	0.97954	447	0.79583	.	.	.	.	.	.	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	1881.33	37	chr14	31398782	.	C	G	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=836;ExcessHet=0;FS=2.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.605;SOR=0.884	GT:AD:DP:GQ:PL	0/1:127,75:202:99:1895,0,3147	18	0	1	0
chr14	36517708	36517708	A	T	exonic	NKX2-1	.	nonsynonymous SNV	NKX2-1:NM_003317:exon2:c.T686A:p.L229Q,NKX2-1:NM_001079668:exon3:c.T776A:p.L259Q	Chorea, hereditary benign, Autosomal dominant;Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3755010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.242	0.421438550448	.	.	0.0005	0	0	0	0	0	0	0.0018	0.0001229	19	154602	rs539786671	7.62e-05	7.662e-05	2.338e-05	0.0001	0.0013	6.463e-05	6.014e-05	0.0011	0.0010	0	0	0	0	0	0.0002	0	6.711e-05	0.0013	1.972e-05	1.97e-05	0	4.037e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.08	0.33585	T	0.322	0.19016	T	0.015	0.21998	B	0.007	0.19653	B	0.043117	0.23772	N	0.349316	0.984122	0.40103	D	-1.28	0.00734	N	-2.78	0.91134	D	0.26	0.04380	N	0.261	0.32812	-0.5196	0.67929	T	0.365	0.72590	T	10	0.03259194	0.01414	T	0.421439	0.93801	D	0.242	0.54781	0.279	0.23323	0.764771714973	0.76262	0.4255937099202649	0.42476	.	.	0.862810432911	0.91525	D	0.100246	0.40585	T	-0.272944	0.11430	T	-0.19492	0.55126	T	0.132536084148685	0.15614	T	0.849215	0.59357	T	0.3127061	0.54019	0.2794735	0.53916	0.3127061	0.54019	0.2794735	0.53915	-3.772	0.20387	T	0.053520498687400456	0.01087	0.106	0.19839	B	.;.;.;.	.;.;.;.	2.966849	0.39528	21.0	0.92016533159320812	0.21353	0.97480	0.75020	D	AEFDBCI	0.818408	0.73967	D	-0.49565732226145	0.22223	1.185079	-0.282520890854634	0.28674	1.600561	0.999990557716542	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.97	3.97	0.45241	7.200000	0.77358	9.026000	0.78582	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	1.0:0.0:0.0:0.0	12.840	0.57182	874	0.30607	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	1167.33	33	chr14	36517708	.	A	T	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.971;DP=768;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.22;SOR=0.572	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1181,0,1341	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	0/1:40,18:58:88:88,0,773	3	0	16	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	358.89	33	chr14	63599584	.	C	T	358.89	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.633;DP=1443;ExcessHet=0.3672;FS=10.016;InbreedingCoeff=-0.088;MLEAC=3;MLEAF=0.079;MQ=59.15;MQRankSum=-10.98;QD=0.62;ReadPosRankSum=-2.535;SOR=2.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,17:194:99:0|1:63599584_C_T:182,0,7301:63599584	16	0	3	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	449.76	33	chr14	63599585	.	T	G	449.76	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.539;DP=1456;ExcessHet=0.7564;FS=10.068;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=59.14;MQRankSum=-10.98;QD=0.6;ReadPosRankSum=-2.477;SOR=2.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,17:194:99:0|1:63599584_C_T:182,0,7301:63599584	15	0	4	0
chr14	65084272	65084272	T	C	exonic	MAX	.	nonsynonymous SNV	MAX:NM_001271068:exon3:c.A172G:p.T58A,MAX:NM_145114:exon4:c.A199G:p.T67A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0218959650397	.	.	0.0001	0	0.0002	0	0	2.999e-05	0.0022	0.0004	8.41e-05	13	154602	rs141542259	4.939e-05	4.925e-05	2.731e-05	7.168e-05	0.0007	4.004e-05	3.68e-05	0.0006	0.0005	0	0	0	0	0	0	7.219e-06	3.318e-05	0.0007	1.977e-05	1.972e-05	0	4.049e-05	0.0004	5.26e-06	2.46e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0004	0.266	0.16251	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950257	0.37687	D	.	.	.	-3.84	0.95826	D	0.81	0.01839	N	0.029	0.00666	-0.2704	0.75801	T	0.661	0.88212	D	8	0.034693718	0.01687	T	0.021896	0.44729	T	0.211	0.50185	0.503	0.59615	0.390292564088	0.38643	.	.	.	.	.	.	.	.	.	.	-0.364463	0.03884	T	-0.378085	0.35945	T	0.0149758049805285	0.00320	T	0.204979	0.02394	T	.	.	.	.	.	.	.	.	-3.673	0.18920	T	.	.	0.065	0.01960	B	.	.	0.338837	0.07123	3.703	0.81584564596339337	0.13758	0.00086	0.00577	N	AEFBI	0.016817	0.00402	N	-0.97472057563725	0.09146	0.4316578	-0.993028853536206	0.09941	0.4976008	0.999617574738714	0.40981	0.722319	0.85440	0	0.698795	0.70079	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	3.63	1.78	0.23918	0.043000	0.13855	0.084000	0.14428	-0.201000	0.08892	0.003000	0.16062	0.031000	0.21272	0.011000	0.09372	0.0:0.737:0.0:0.263	5.551	0.16380	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1454.33	36	chr14	65084272	.	T	C	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=801;ExcessHet=0;FS=4.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.23;SOR=1.137	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1468,0,1526	18	0	1	0
chr14	67302051	67302051	G	A	exonic	MPP5	.	nonsynonymous SNV	MPP5:NM_001256550:exon6:c.G632A:p.S211N,MPP5:NM_022474:exon6:c.G734A:p.S245N	.	.	.	.	.	.	.	.	.	.	.	3367833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.108	0.00211764164908	.	.	0.0002	0	0	0	0	1.5e-05	0.0011	0.0010	0.0001229	19	154602	rs764531201	7.754e-05	8.072e-05	4.37e-05	0.0001	0.0013	6.553e-05	6.154e-05	0.0011	0.0010	0	0	0	0	0	0	9.01e-07	0	0.0013	3.941e-05	3.937e-05	0	8.06e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.528	0.08458	T	0.576	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.84330	D	0.095855	0.96357	0.43655	D	-0.55	0.02420	N	3.07	0.08547	T	0.51	0.02898	N	0.107	0.14338	-0.9154	0.46168	T	0.012	0.04558	T	10	0.015995532	0.00336	T	0.002118	0.03935	T	0.108	0.30607	0.346	0.34112	0.15499578495	0.15088	0.2682006460653276	0.26733	0.300977631281	0.32447	0.598168969154	0.52646	T	0.033555	0.22959	T	-0.653273	0.00069	T	-0.773152	0.02666	T	0.049973333672007	0.05495	T	0.771423	0.40183	T	0.13307056	0.30963	0.088431865	0.20618	0.13307056	0.30963	0.088431865	0.20617	-2.917	0.10300	T	.	.	0.063	0.02894	B	.;.	.;.	2.759120	0.36189	20.2	0.83751950055979885	0.14900	0.78790	0.38927	D	AEFGBI	0.105644	0.21104	N	-0.214721970545302	0.32528	1.835489	0.0254972391746426	0.40901	2.448527	0.448381956679869	0.20518	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	2.135000	0.41735	8.551000	0.77529	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.998000	0.85391	0.2046:0.0:0.7954:0.0	7.218	0.25148	342	0.85871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1027.33	33	chr14	67302051	.	G	A	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.251;DP=711;ExcessHet=0;FS=1.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.497;SOR=0.883	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1041,0,1247	18	0	1	0
chr14	71588375	71588375	G	A	exonic	SIPA1L1	.	nonsynonymous SNV	SIPA1L1:NM_001284246:exon2:c.G503A:p.R168H,SIPA1L1:NM_001284247:exon4:c.G503A:p.R168H,SIPA1L1:NM_001354285:exon5:c.G503A:p.R168H,SIPA1L1:NM_001354287:exon5:c.G503A:p.R168H,SIPA1L1:NM_001354288:exon5:c.G503A:p.R168H,SIPA1L1:NM_001354286:exon6:c.G503A:p.R168H,SIPA1L1:NM_001284245:exon7:c.G503A:p.R168H,SIPA1L1:NM_015556:exon7:c.G503A:p.R168H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0191536938539	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs765649102	8.21e-06	8.209e-06	6.807e-06	9.627e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.08736	T	0.648	0.07150	T	0.336	0.77913	B	0.139	0.77487	B	0.000000	0.84330	D	0.045472	1	0.81001	D	0.985	0.24966	L	0.79	0.49068	T	-0.98	0.25986	N	0.563	0.62696	-0.9151	0.46207	T	0.196	0.54999	T	10	0.32314867	0.49656	T	0.019154	0.41433	T	0.259	0.57090	0.33	0.31519	0.690722937359	0.68806	0.5013866605442484	0.50060	0.658459894302	0.58751	0.856479227543	0.90588	D	0.032059	0.22321	T	0.0361176	0.56533	T	-0.185896	0.55973	T	0.346485063957195	0.26880	T	0.857714	0.54741	D	0.13098182	0.30546	0.12735882	0.30658	0.13098182	0.30546	0.12735882	0.30657	-3.485	0.16223	T	.	.	0.306	0.53425	B	.;.;.	.;.;.	3.950151	0.57866	23.9	0.71481795175395557	0.09644	0.95814	0.66267	D	AEFGBCI	0.896627	0.83790	D	0.335946573364463	0.58003	3.970098	0.396483481521129	0.61349	4.333614	0.999999999995736	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	10.003000	0.99689	8.724000	0.78169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.210000	0.22183	0.0:0.0:1.0:0.0	19.403	0.94627	410	0.82135	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1650.33	33	chr14	71588375	.	G	A	1650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.616;DP=800;ExcessHet=0;FS=4.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.109;SOR=0.428	GT:AD:DP:GQ:PL	0/1:72,64:136:99:1664,0,1838	18	0	1	0
chr14	73261255	73261255	G	A	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon17:c.G2206A:p.G736S,PAPLN:NM_173462:exon17:c.G2125A:p.G709S,PAPLN:NM_001365906:exon18:c.G2206A:p.G736S	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0432195865289	0.0025	0.000798722	0.0025	0.0004	0.0029	0	0.0008	0.0033	0.0044	0.0024	0.0024644	381	154602	rs145250622	0.0034	0.0034	0.0034	0.0034	0.0039	0.0033	0.0033	0.0038	0.0038	0.0006	0.0017	3.826e-05	2.519e-05	0.0013	0.0014	0.0039	0.0037	0.0031	0.0021	0.0021	0.0024	0.0019	0.0036	0.0019	0.0018	0.0032	0.0031	0.0006	0.0066	0.0012	0	0	0.0006	0.0102	0.0036	0.0024	0.0029	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.97372	D	.	.	.	.	0.997185	0.43692	D	3.385	0.91502	M	-0.14	0.65006	T	-4.14	0.75456	D	0.697	0.71942	0.093	0.84051	D	0.487	0.80486	T	9	0.033061773	0.01472	T	0.04322	0.60869	D	0.491	0.77783	.	.	0.568962582336	0.56561	0.5660381144225889	0.56531	0.73986025186	0.63191	0.646865725517	0.59541	T	0.271279	0.64359	T	-0.0838483	0.39086	T	0.105943	0.77303	D	0.0729112545882051	0.09054	T	0.922508	0.72041	D	0.34272504	0.56495	0.2492163	0.50488	0.34272504	0.56495	0.2492163	0.50487	-11.18	0.84013	D	.	.	0.419	0.65265	A	.;.;.;.	.;.;.;.	4.463355	0.69484	25.4	0.99782436310463241	0.86867	0.99329	0.94577	D	AEFDGBI	0.904416	0.85469	D	0.566377400131783	0.71084	5.597611	0.403593135130335	0.61787	4.383967	0.999999999997106	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.75	4.75	0.59954	8.567000	0.90529	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	17.942	0.88947	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	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	953.33	34	chr14	73261255	.	G	A	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.484;DP=754;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-1.307;SOR=0.751	GT:AD:DP:GQ:PL	0/1:54,45:99:99:967,0,1283	18	0	1	0
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E	.	419	1038	61	4	0	69	0.0321678	.	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.035247	0.010101	0.036685	0.032164	0.050000	0.034483	0.024390	0.045455	0.07895	3341.79	33	chr14	74358253	.	C	A	3341.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.542;DP=830;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.716;SOR=0.716	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1349,0,1235	16	0	3	0
chr14	77407535	77407535	C	T	exonic	NOXRED1	.	nonsynonymous SNV	NOXRED1:NM_001113475:exon3:c.G460A:p.V154I	.	435	1048	39	0	0	39	0.018267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0083	0.00419329	0.0066	0.0019	0.0041	0	0.0026	0.0097	0.0055	0.0043	0.0069663	1077	154602	rs141189280	0.0087	0.0088	0.0087	0.0088	0.0333	0.0086	0.0086	0.0294	0.0280	0.0016	0.0061	0.0110	0.0001	0.0020	0.0333	0.0098	0.0086	0.0053	0.0067	0.0067	0.0072	0.0061	0.0103	0.0063	0.0062	0.0096	0.0094	0.0018	0.0132	0.0076	0.0121	0.0002	0.0018	0.0476	0.0103	0.0099	0.0041	0.602	0.08787	T	0.248	0.23845	T	0.001	0.07471	B	0.001	0.04355	B	0.633464	0.05826	N	1.202330	1	0.08975	N	0.075	0.08292	N	0.99	0.41750	T	0.01	0.07736	N	0.111	0.09772	-1.0550	0.13040	T	0.034	0.14639	T	10	0.0045294464	0.00094	T	.	.	.	0.038	0.09825	.	.	0.21737058555	0.21362	0.2516836260169324	0.25082	0.118053165635	0.13290	0.226650893688	0.01729	T	0.020134	0.15906	T	-0.672006	0.00053	T	-0.727679	0.04433	T	0.00575182871688739	0.00063	T	0.424358	0.11346	T	0.030284833	0.02666	0.027110701	0.00840	0.030284833	0.02666	0.027110701	0.00840	-3.256	0.13176	T	.	.	0.081	0.08465	B	.;.	.;.	-1.197009	0.00533	0.012	0.77288193910196079	0.11814	0.03348	0.08433	N	AEFBHCI	0.028639	0.02560	N	-1.78900436564519	0.00572	0.02466229	-1.91754234181815	0.00452	0.01999623	0.999999999943413	0.74766	0.516011	0.20929	0	0.624146	0.53433	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.77	-11.5	0.00057	-1.268000	0.02944	-3.258000	0.02929	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.26:0.2926:0.1298:0.3176	0.813	0.01027	923	0.18507	Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, 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	0.020141	0.035354	0.021739	0.035088	0.050000	0.034483	0.006098	0.000000	0.02632	2679.33	34	chr14	77407535	.	C	T	2679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=781;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.196;SOR=0.522	GT:AD:DP:GQ:PL	0/1:59,101:160:99:2693,0,1318	18	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/1:111,47:167:93:93,0,1806	10	0	9	0
chr14	80831291	80831291	A	G	exonic	CEP128	.	nonsynonymous SNV	CEP128:NM_152446:exon13:c.T1061C:p.V354A	.	429	1061	30	2	0	34	0.0157699	.	.	.	3409323	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0080	0.00479233	0.0087	0.0019	0.0046	0.0005	0.0133	0.0108	0.0165	0.0093	0.0086868	1343	154602	rs116610923	0.0099	0.0099	0.0097	0.0101	0.0144	0.0098	0.0097	0.0119	0.0110	0.0014	0.0055	0.0427	0.0002	0.0136	0.0144	0.0097	0.0108	0.0098	0.0083	0.0084	0.0081	0.0086	0.0101	0.0080	0.0078	0.0095	0.0092	0.0019	0.0121	0.0064	0.0398	0.0010	0.0159	0.0034	0.0101	0.0161	0.0096	0.233	0.18122	T	0.694	0.15842	T	0.07	0.28604	B	0.033	0.28749	B	0.778391	0.06639	N	1.123640	1	0.08975	N	2.35	0.67516	M	-1.68	0.82897	D	-1.54	0.37759	N	0.136	0.13341	-0.8703	0.50506	T	0.221	0.58447	T	10	0.0028569698	0.00046	T	.	.	.	0.133	0.36157	.	.	0.431490205687	0.42766	0.1071860755672296	0.10648	0.0872170949531	0.09831	0.254053235054	0.04207	T	0.017587	0.14320	T	-0.385214	0.02887	T	-0.313785	0.43250	T	0.00628282384006659	0.00070	T	0.470053	0.13899	T	0.069137566	0.15121	0.040128335	0.04266	0.069137566	0.15121	0.040128335	0.04266	-2.893	0.09074	T	.	.	0.104	0.22464	B	.;.;.	.;.;.	0.471155	0.08407	5.163	0.92020508935990841	0.21358	0.00735	0.03077	N	AEFI	0.022660	0.01162	N	-0.868447548759972	0.11598	0.5606108	-0.862676048706051	0.12983	0.6709991	0.00159392376557499	0.08681	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.61	0.288	0.14969	0.795000	0.26632	1.054000	0.23662	-0.107000	0.15377	0.759000	0.29231	0.000000	0.08366	0.346000	0.25568	0.3749:0.0:0.4568:0.1684	4.797	0.12644	852	0.35056	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.005435	0.005848	0.050000	0.017241	0.012195	0.011364	0.07895	5477.77	35	chr14	80831291	.	A	G	5477.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.23;DP=897;ExcessHet=0;FS=4.061;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=-0.77;SOR=0.987	GT:AD:DP:GQ:PL	0/1:76,78:154:99:1979,0,1749	17	1	1	0
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	417.72	34	chr14	87947880	.	T	G	417.72	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-0.843;DP=647;ExcessHet=1.3;FS=151.533;InbreedingCoeff=-0.2114;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=2.84;SOR=8.318	GT:AD:DP:GQ:PL	0/1:24,17:41:99:133,0,338	11	0	5	3
chr14	88596758	88596758	C	T	exonic	ZC3H14	.	nonsynonymous SNV	ZC3H14:NM_207662:exon2:c.C410T:p.S137F,ZC3H14:NM_001326300:exon9:c.C839T:p.S280F,ZC3H14:NM_001326302:exon9:c.C839T:p.S280F,ZC3H14:NM_001326304:exon9:c.C839T:p.S280F,ZC3H14:NM_001326308:exon9:c.C839T:p.S280F,ZC3H14:NM_001160103:exon10:c.C1304T:p.S435F,ZC3H14:NM_001160104:exon10:c.C1304T:p.S435F,ZC3H14:NM_001326295:exon10:c.C1304T:p.S435F,ZC3H14:NM_001326297:exon10:c.C1202T:p.S401F,ZC3H14:NM_001326310:exon10:c.C1304T:p.S435F,ZC3H14:NM_001326315:exon10:c.C1202T:p.S401F,ZC3H14:NM_001326316:exon10:c.C1202T:p.S401F,ZC3H14:NM_024824:exon10:c.C1304T:p.S435F,ZC3H14:NM_207661:exon10:c.C1202T:p.S401F	Mental retardation, autosomal recessive 56, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	208135	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.204	.	0.0030	0.00159744	0.0044	0.0003	0.0003	0	0.0166	0.0057	0.0121	0.0015	0.0040103	620	154602	rs45518831	0.0032	0.0032	0.0032	0.0032	0.0031	0.0031	0.0031	0.0030	0.0029	0.0003	0.0007	0.0002	2.52e-05	0.0172	0.0002	0.0031	0.0031	0.0016	0.0037	0.0037	0.0030	0.0043	0.0044	0.0034	0.0033	0.0040	0.0039	0.0004	0	0.0018	0.0003	0	0.0184	0	0.0044	0.0028	0.0012	0.004	0.91255	D	0.007	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000254	0.46924	D	0.194491	0.998653	0.81001	D	1.955	0.52871	M	.	.	.	-2.95	0.61580	D	0.609	0.70351	-0.3008	0.74963	T	0.315	0.68477	T	9	0.0072610974	0.00165	T	.	.	.	0.502	0.78475	.	.	0.0934897674506	0.08844	0.6433847406967917	0.64273	1.52902459081	0.87555	0.476905703545	0.35630	T	0.330058	0.70030	T	-0.265999	0.12206	T	-0.148892	0.59342	T	0.0195768547671798	0.00660	T	0.959104	0.84591	D	0.2601642	0.49071	0.2638511	0.52196	0.2925791	0.52231	0.22468413	0.47388	-7.723	0.67948	D	.	.	0.286	0.73305	B	.;.;.;.;.;.	.;.;.;.;.;.	4.103373	0.61201	24.3	0.99743440193931765	0.83703	0.93663	0.58837	D	AEFDBI	0.335765	0.43410	N	0.233856914346047	0.52846	3.456332	0.208337265095919	0.50309	3.224359	0.998873005664723	0.37868	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.68	4.79	0.60909	1.644000	0.36844	4.876000	0.45617	-0.188000	0.09543	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.8475:0.1525:0.0	13.883	0.63192	819	0.41190	.;.;.;.;.;.	.	.	.	.	rs45518831	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	1389.33	33	chr14	88596758	.	C	T	1389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.3;DP=757;ExcessHet=0;FS=2.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.074;SOR=0.914	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1403,0,1720	18	0	1	0
chr14	90288683	90288683	C	T	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon11:c.G2692A:p.D898N	.	.	.	.	.	.	.	.	.	.	.	3362674	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00415753426454	.	0.000798722	0.0002	0	0	0.0023	0	0	0	0.0002	0.0001746	27	154602	rs183000861	8.414e-05	8.414e-05	8.031e-05	8.801e-05	0.0022	7.203e-05	6.75e-05	0.0018	0.0017	0	0	0	0.0022	0	0	9.892e-06	8.279e-05	0.0002	8.534e-05	8.53e-05	3.854e-05	0.0001	0.0021	4.953e-05	3.959e-05	0.0012	0.0009	0	0	0	0	0.0021	0	0	0	0	0.0004	0.53	0.07025	T	0.674	0.06225	T	0.001	0.07471	B	0.0	0.01387	B	0.007178	0.01157	N	2.422680	1	0.08975	N	0.755	0.19153	N	1.97	0.22067	T	-0.84	0.22944	N	0.092	0.07125	-1.0777	0.07801	T	0.027	0.11663	T	10	0.005444795	0.00120	T	0.004158	0.09995	T	0.011	0.01250	.	.	0.183819452728	0.17975	0.10374542391967542	0.10304	0.0634150338098	0.07060	0.251244008541	0.03900	T	7.87E-4	0.00376	T	-0.719478	0.00028	T	-0.810872	0.01645	T	0.0096957130025273	0.00127	T	0.606339	0.22814	T	0.012374784	0.00032	0.019084515	0.00076	0.012374784	0.00032	0.019084515	0.00076	-3.912	0.22482	T	.	.	0.072	0.04080	B	.	.	-0.188129	0.03153	0.510	0.77428582328573126	0.11872	0.08242	0.14196	N	AEFDBCI	0.039381	0.05711	N	-1.33683143858518	0.03263	0.1454772	-1.3607351481428	0.03681	0.1722032	0.940618821606372	0.27440	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.692231	0.68500	0	.	.	4.44	-1.36	0.08610	-0.718000	0.05083	-3.308000	0.02888	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1767:0.2081:0.3514:0.2637	0.830	0.01057	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1986.33	40	chr14	90288683	.	C	T	1986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=844;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.626;SOR=0.655	GT:AD:DP:GQ:PL	0/1:80,80:160:99:2000,0,1884	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	0/1:91,58:149:99:886,0,1756	1	0	17	1
chr14	95457196	95457196	T	A	exonic	SYNE3	.	nonsynonymous SNV	SYNE3:NM_001363692:exon5:c.A770T:p.Q257L,SYNE3:NM_001384281:exon5:c.A770T:p.Q257L,SYNE3:NM_001384282:exon5:c.A770T:p.Q257L,SYNE3:NM_001384284:exon5:c.A770T:p.Q257L,SYNE3:NM_152592:exon5:c.A770T:p.Q257L,SYNE3:NM_001384283:exon6:c.A794T:p.Q265L	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00373828091498	.	0.000399361	0.0002	0	8.639e-05	0	0	6.017e-05	0	0.0012	0.0001746	27	154602	rs572049296	5.268e-05	5.267e-05	3.539e-05	7.013e-05	0.0007	4.278e-05	3.953e-05	0.0005	0.0005	0	0	0	0	0	0	1.079e-05	9.936e-05	0.0007	4.603e-05	4.597e-05	1.286e-05	8.075e-05	0.0015	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.567	0.07797	T	0.227	0.25514	T	0.0	0.02946	B	0.002	0.06944	B	0.441815	0.04764	N	1.450400	1	0.08975	N	-0.92	0.01311	N	3.48	0.10386	T	-3.38	0.71639	D	0.16	0.16725	-0.9683	0.37551	T	0.016	0.06473	T	10	0.009282857	0.00210	T	0.003738	0.08682	T	0.020	0.03691	0.431	0.48007	0.110078149338	0.10416	0.07953082250835923	0.07888	0.108456008198	0.12232	0.253676563501	0.04165	T	0.061848	0.31762	T	-0.599816	0.00146	T	-0.690718	0.06348	T	0.0191438981736975	0.00621	T	0.281772	0.04941	T	0.0844535	0.19549	0.05716512	0.10342	0.0844535	0.19549	0.05716512	0.10341	-7.085	0.54652	T	.	.	0.087	0.11366	B	.;.;.	.;.;.	0.098266	0.05004	1.559	0.66048239734979919	0.07946	0.06684	0.12703	N	AEFDGBHIJ	0.081478	0.16486	N	-1.31171785271052	0.03540	0.1583146	-1.34663210700611	0.03845	0.1802211	0.999999848114797	0.74766	0.615465	0.37627	0	0.577304	0.33150	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.17	-2.35	0.06302	0.121000	0.15496	-2.027000	0.04324	-0.902000	0.02317	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1496:0.2224:0.1139:0.5141	1.384	0.02101	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	814.33	46	chr14	95457196	.	T	A	814.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.996;DP=883;ExcessHet=0;FS=7.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.06;SOR=0.27	GT:AD:DP:GQ:PL	0/1:47,41:88:99:828,0,1226	18	0	1	0
chr14	96420858	96420858	C	T	exonic	AK7	.	stopgain	AK7:NM_001350888:exon5:c.C535T:p.R179X,AK7:NM_001350890:exon5:c.C535T:p.R179X,AK7:NM_001350891:exon5:c.C535T:p.R179X,AK7:NM_001350892:exon5:c.C535T:p.R179X,AK7:NM_152327:exon5:c.C535T:p.R179X	.	.	.	.	.	.	.	.	.	.	.	2014649	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs752126253	1.163e-05	1.163e-05	1.226e-05	1.1e-05	0.0002	7.09e-06	5.79e-06	3.81e-06	2.76e-06	2.988e-05	0	0	2.52e-05	0	0.0002	8.097e-06	6.628e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002641	0.36173	N	0.222327	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.867	0.86404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457171	0.92802	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.107259	0.98474	39	0.99817543371143835	0.90061	0.77568	0.38153	D	AEFI	0.141268	0.26340	N	0.783759583996535	0.85078	8.470602	0.65772166355625	0.79189	7.029677	0.415071009235187	0.20245	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	2.922000	0.48557	5.702000	0.49384	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.181:0.819:0.0:0.0	11.374	0.48958	958	0.09170	.	.	.	.	.	.	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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1410.33	39	chr14	96420858	.	C	T	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.327;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.027;SOR=0.663	GT:AD:DP:GQ:PL	0/1:42,64:106:99:1424,0,792	18	0	1	0
chr14	102250899	102250899	C	T	exonic	MOK	.	nonsynonymous SNV	MOK:NM_001353829:exon5:c.G188A:p.R63Q,MOK:NM_001353830:exon5:c.G185A:p.R62Q,MOK:NM_001272011:exon6:c.G413A:p.R138Q,MOK:NM_001353827:exon6:c.G410A:p.R137Q,MOK:NM_001330234:exon7:c.G500A:p.R167Q,MOK:NM_014226:exon7:c.G503A:p.R168Q,MOK:NM_001353828:exon8:c.G311A:p.R104Q	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	.	0.0002	0.000599042	0.0025	0	0	0.0005	0.0237	0.0019	0.0133	0.0001	0.0019728	305	154602	rs181921234	0.0010	0.0010	0.0010	0.0010	0.0009	0.0009	0.0009	0.0007	0.0006	5.974e-05	0	0.0003	0.0009	0.0192	0	0.0002	0.0011	0.0003	0.0017	0.0017	0.0006	0.0028	0.0010	0.0015	0.0015	0.0004	0.0003	0	0	0	0.0003	0.0006	0.0213	0	0.0004	0.0005	0.0010	0.0	0.91255	D	0.035	0.52727	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.994586	0.81001	D	2	0.54354	M	0.71	0.51228	T	-3.92	0.73151	D	0.822	0.81758	-0.1651	0.78547	T	0.386	0.74165	T	10	0.018689334	0.00409	T	.	.	.	0.460	0.75755	.	.	0.802652082553	0.80081	0.8827370939035548	0.88241	0.638963966214	0.57584	0.615034520626	0.55027	T	0.04026	0.25466	T	-0.0265267	0.47920	T	0.138679	0.79459	D	0.117540342724011	0.14187	T	0.934307	0.85218	D	0.9062017	0.91943	0.8614962	0.92281	0.9062017	0.91945	0.8614962	0.92281	-11.069	0.80501	D	.	.	0.912	0.84445	P	.;.;.	.;.;.	4.913314	0.80858	27.4	0.99950702803408453	0.99944	0.94410	0.61076	D	AEFBI	0.823479	0.74358	D	0.868283291044592	0.90124	10.26292	0.811784021842417	0.90600	10.48193	0.999999999029787	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.69	5.69	0.88346	5.559000	0.67030	3.218000	0.36838	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.910000	0.44547	0.0:1.0:0.0:0.0	19.401	0.94620	793	0.45818	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1868.33	33	chr14	102250899	.	C	T	1868.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=775;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.446;SOR=0.799	GT:AD:DP:GQ:PL	0/1:67,79:146:99:1882,0,1488	18	0	1	0
chr14	104586509	104586509	G	A	exonic	C14orf180	.	nonsynonymous SNV	C14orf180:NM_001008404:exon2:c.G79A:p.A27T,C14orf180:NM_001286399:exon2:c.G79A:p.A27T,C14orf180:NM_001286400:exon2:c.G79A:p.A27T	.	399	1118	4	1	0	6	0.00267618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00314531702461	0.0014	0.000998403	0.0025	0.0004	0	0	0	0.0018	0	0.0043	0.0010026	155	154602	rs201836429	0.0018	0.0018	0.0018	0.0019	0.0044	0.0018	0.0018	0.0040	0.0039	0.0005	0.0003	0.0003	5.593e-05	0.0006	0.0009	0.0019	0.0017	0.0044	0.0013	0.0013	0.0013	0.0012	0.0029	0.0011	0.0011	0.0019	0.0018	0.0003	0	0.0003	0.0003	0	0.0006	0	0.0022	0.0028	0.0029	0.984	0.07670	T	0.561	0.18018	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.34	0.21003	N	0.054	0.04307	-1.0228	0.22802	T	0.026	0.11353	T	8	0.004038155	0.00078	T	0.003145	0.06845	T	0.002	0.00045	.	.	0.0138822411134	0.00435	0.046523677241875526	0.04596	0.0145856783889	0.01380	.	.	.	.	.	.	-0.690082	0.00042	T	-0.764552	0.02952	T	0.0046864148004773	0.00050	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.20663	B	.;.;.	.;.;.	-1.112875	0.00625	0.017	0.88072491133493624	0.17695	0.00829	0.03338	N	AEFDBIJ	0.033525	0.03996	N	-1.26190155005587	0.04145	0.1865084	-1.34331990447221	0.03885	0.1821512	0.122093404118098	0.16906	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.33	-1.53	0.08156	-1.596000	0.02194	-5.231000	0.01797	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6415:0.0:0.3585:0.0	5.905	0.18241	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002626	0.000000	0.002849	0.003030	0.000000	0.000000	0.000000	0.003817	0.02632	1277.33	36	chr14	104586509	.	G	A	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.094;DP=716;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.06;SOR=0.514	GT:AD:DP:GQ:PL	0/1:26,50:76:99:1291,0,633	18	0	1	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	0/1:42,10:52:99:.:.:324,0,1605:.	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	0/1:42,10:52:99:.:.:324,0,1605:.	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	0/1:42,10:52:99:.:.:324,0,1605:.	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	0/1:42,10:52:99:.:.:324,0,1605:.	4	0	15	0
chr15	23364400	23364400	C	G	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766G:p.Q256E	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113818	0.0138	0.0027	0.1229	0.0010	0.0005	0.0019	0.0023	0.0021	0.0113	1747	154602	rs190023905	0.0049	0.0049	0.0054	0.0043	0.1073	0.0048	0.0047	0.1047	0.1037	0.0009	0.1073	0.0015	0.0007	0.0004	0.0005	0.0016	0.0043	0.0019	0.0078	0.0079	0.0071	0.0085	0.0622	0.0074	0.0073	0.0589	0.0576	0.0018	0	0.0622	0.0020	0.0014	0.0005	0	0.0018	0.0057	0.0015	0.251	0.17069	T	0.805	0.04005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.56	0.89627	D	-0.46	0.14978	N	0.094	0.07398	.	.	.	.	.	.	.	0.0020659864	0.00029	T	.	.	.	.	.	.	.	.	.	0.24872049876042787	0.24786	0.649115808177	0.58234	.	.	.	.	.	.	-0.405389	0.02133	T	-0.258373	0.48987	T	.	.	.	0.470053	0.13899	T	0.049244054	0.08713	0.053658646	0.09079	0.049244054	0.08713	0.053658646	0.09079	-2.965	0.09809	T	.	.	0.069	0.02960	B	.	.	0.573830	0.09421	6.203	0.44916447368234352	0.03488	0.24773	0.22497	N	AEFCI	0.149989	0.27419	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	6640.54	73	chr15	23364400	.	C	G	6640.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=1243;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=57.73;MQRankSum=2.4;QD=13.69;ReadPosRankSum=0.104;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,96:166:99:.:.:2442,0,2522:.	18	0	1	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|1:32,5:37:74:0|1:23440319_CT_C:74,0,1165:23440319	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	1/0:1,61:139:99:.:.:4853,2507,3416:.	0	0	19	0
chr15	32393122	32393122	G	C	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon18:c.C1637G:p.A546G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0216559344746	.	.	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs879383152	0.0073	0.0087	0.0074	0.0073	0.0082	0.0072	0.0071	0.0080	0.0079	0.0010	0.0018	0.0028	0	0.0166	0.0023	0.0082	0.0067	0.0030	0.0089	0.0096	0.0093	0.0085	0.0141	0.0085	0.0084	0.0133	0.0130	0.0018	0	0.0054	0.0041	0	0.0195	0	0.0141	0.0067	0.0044	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.175	0.18784	-0.9435	0.42057	T	0.134	0.44681	T	6	0.007226914	0.00164	T	0.021656	0.44458	T	0.101	0.28911	.	.	.	.	0.078227242615028	0.07758	2.81491841806	0.98944	.	.	.	.	.	.	-0.451879	0.01101	T	-0.428036	0.30158	T	0.0307605207773281	0.02108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33249	B	.	.	2.112588	0.26887	17.27	0.83971478146517509	0.15024	0.36640	0.25579	N	AEFI	0.145436	0.26865	N	-0.437548910992265	0.24165	1.302847	-0.644985882073313	0.18343	0.9794797	1.40905294310266E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	1.66	0.714	0.17336	1.249000	0.32441	0.862000	0.22237	0.228000	0.18124	0.890000	0.31197	0.000000	0.08366	0.001000	0.02609	0.1932:0.0:0.5076:0.2992	2.277	0.03853	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	197.33	37	chr15	32393122	.	G	C	197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=638;ExcessHet=0;FS=1.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.05;MQRankSum=2.07;QD=6.58;ReadPosRankSum=-0.286;SOR=1.329	GT:AD:DP:GQ:PL	0/1:20,10:30:99:211,0,440	18	0	1	0
chr15	41518088	41518088	C	T	exonic	RPAP1	.	nonsynonymous SNV	RPAP1:NM_015540:exon23:c.G3890A:p.R1297H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0014	0.00299521	0.0014	0.0040	0.0101	0	0	5.998e-05	0.0011	6.079e-05	0.001313	203	154602	rs141055831	0.0005	0.0005	0.0005	0.0005	0.0090	0.0005	0.0005	0.0083	0.0080	0.0038	0.0090	0	0	0	0.0002	0.0001	0.0006	0.0002	0.0018	0.0018	0.0019	0.0017	0.0048	0.0016	0.0015	0.0040	0.0038	0.0045	0	0.0048	0	0	0	0.0034	7.35e-05	0.0024	0	0.042	0.41637	D	0.109	0.37449	T	0.02	0.18235	B	0.009	0.14300	B	0.050930	0.23027	N	0.494619	1	0.08975	N	2.05	0.56469	M	2.57	0.13552	T	-2.82	0.59545	D	0.156	0.16168	-1.0391	0.17587	T	0.027	0.11574	T	10	0.0042398274	0.00085	T	.	.	.	0.085	0.24743	.	.	0.253726318573	0.24972	0.25822084624494046	0.25736	0.25414597064	0.27982	0.235342130065	0.02386	T	0.041654	0.25929	T	-0.480232	0.00737	T	-0.455062	0.27139	T	0.0147124235638062	0.00306	T	0.836716	0.50835	T	0.069834225	0.15331	0.06969491	0.14717	0.069834225	0.15331	0.06969491	0.14717	-3.96	0.23203	T	.	.	0.079	0.07507	B	.	.	2.684778	0.35034	19.79	0.98923161495161283	0.48602	0.21220	0.21324	N	AEFDGBCI	0.093098	0.18841	N	-0.53179422527459	0.21059	1.114793	-0.526753549235973	0.21427	1.159116	0.9999939153098	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	2.32	0.27895	0.898000	0.28035	0.834000	0.21977	0.599000	0.40250	0.337000	0.25649	0.281000	0.24108	0.956000	0.50813	0.0:0.7241:0.0:0.2759	10.009	0.41147	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1701.33	35	chr15	41518088	.	C	T	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=840;ExcessHet=0;FS=0.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.385;SOR=0.619	GT:AD:DP:GQ:PL	0/1:102,78:180:99:1715,0,2387	18	0	1	0
chr15	41668915	41668915	T	G	exonic	MGA	.	nonsynonymous SNV	MGA:NM_001080541:exon2:c.T21G:p.I7M,MGA:NM_001164273:exon2:c.T21G:p.I7M	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	.	.	0.00319489	0.0021	0.0001	0.0021	0.0204	0	0.0002	0.005	0.0014	0.0017658	273	154602	rs138712718	0.0011	0.0011	0.0010	0.0011	0.0278	0.0010	0.0010	0.0264	0.0259	3.058e-05	0.0021	0.0016	0.0278	0	0	0.0001	0.0007	0.0014	0.0012	0.0012	0.0011	0.0013	0.0208	0.0010	0.0010	0.0176	0.0164	7.217e-05	0	0.0024	0.0020	0.0208	0	0.0034	0.0002	0	0.0014	0.001	0.78490	D	0.138	0.40267	T	.	.	.	.	.	.	0.003630	0.34687	N	0.127499	1	0.08975	N	0.205	0.09354	N	-2.25	0.87272	D	-1.4	0.34596	N	0.661	0.67045	-0.7478	0.58050	T	0.175	0.51816	T	10	0.0055910647	0.00124	T	.	.	.	0.359	0.67962	.	.	0.428492896387	0.42465	0.3378166267228631	0.33694	0.348634746703	0.36727	0.50332814455	0.39291	T	0.088837	0.38244	T	-0.308802	0.07854	T	-0.200754	0.54574	T	0.0460250514082537	0.04788	T	0.890911	0.62511	D	.	.	.	.	.	.	.	.	-4.885	0.35566	T	.	.	0.089	0.24260	B	.;.;.;.;.;.	.;.;.;.;.;.	2.354977	0.30199	18.36	0.94868921562570352	0.25687	0.44008	0.27224	N	AEGBI	0.055018	0.10052	N	-0.381287247278921	0.26136	1.42411	-0.279942680206718	0.28759	1.606025	0.999854452341961	0.44174	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.37	0.00603	0.13387	-0.042000	0.12016	1.467000	0.26725	0.665000	0.62972	0.941000	0.32681	1.000000	0.68203	1.000000	0.97212	0.1345:0.3002:0.1393:0.426	1.578	0.02470	125	0.94984	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.003067	0.000000	0.02632	2044.33	36	chr15	41668915	.	T	G	2044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.69;DP=770;ExcessHet=0;FS=3.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=0.98;QD=13.72;ReadPosRankSum=0.034;SOR=1.047	GT:AD:DP:GQ:PL	0/1:77,72:149:99:2058,0,1836	18	0	1	0
chr15	41847380	41847380	C	T	exonic	JMJD7-PLA2G4B;PLA2G4B	.	nonsynonymous SNV	PLA2G4B:NM_001114633:exon19:c.C1991T:p.P664L,JMJD7-PLA2G4B:NM_005090:exon24:c.C2684T:p.P895L	.	426	1094	2	0	0	2	0.000913242	.	.	.	3275547	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.321	0.0398425910531	7.7e-05	.	9.997e-05	0	0	0	0	4.555e-05	0	0.0006	7.76e-05	12	154602	rs145043086	6.991e-05	6.977e-05	5.728e-05	8.268e-05	0.0003	5.858e-05	5.468e-05	0.0002	0.0002	5.977e-05	0	0	2.521e-05	0	0.0002	5.67e-05	9.95e-05	0.0003	4.598e-05	5.249e-05	5.141e-05	4.03e-05	5.881e-05	2.109e-05	1.526e-05	1.972e-05	1.125e-05	4.816e-05	0	0	0	0	0	0.0034	5.881e-05	0	0	0.007	0.59928	D	0.017	0.60337	D	1.0	0.90584	D	0.951	0.68939	D	0.000551	0.43413	D	0.162448	1	0.81001	D	3.065	0.87014	M	2.2	0.18570	T	-8.72	0.97670	D	0.702	0.70615	-0.8738	0.50241	T	0.151	0.47839	T	9	0.674883	0.70931	D	0.039843	0.59042	D	0.321	0.64318	.	.	0.506250668499	0.50264	0.7433040204011816	0.74276	0.216757167542	0.24195	0.498891025782	0.38673	T	0.272242	0.64462	T	-0.231786	0.16414	T	-0.248755	0.49939	T	0.894309222698212	0.54567	D	0.849315	0.53201	T	0.11194796	0.26451	0.124207385	0.29940	0.11194796	0.26451	0.124207385	0.29939	-8.325	0.63264	D	.	.	0.125	0.26514	B	.;.;.	.;.;.	4.340799	0.66595	25.0	0.9991309726751082	0.98167	0.94822	0.62449	D	AEFGBCI	0.498533	0.53260	N	0.578323257262695	0.71821	5.70983	0.538487600049008	0.70601	5.529139	0.999999993666749	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	4.293000	0.58834	4.839000	0.45267	0.598000	0.34611	0.996000	0.39380	1.000000	0.68203	0.403000	0.26849	0.0:1.0:0.0:0.0	15.783	0.78043	237	0.90758	.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain|Lysophospholipase, 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	.	.	.	.	.	.	.	.	0.02632	1035.33	34	chr15	41847380	.	C	T	1035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.76;DP=702;ExcessHet=0;FS=7.747;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.314;SOR=0.165	GT:AD:DP:GQ:PL	0/1:21,42:63:99:1049,0,534	18	0	1	0
chr15	43235738	43235738	C	T	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_004245:exon9:c.G1199A:p.R400K,TGM5:NM_201631:exon10:c.G1445A:p.R482K	Peeling skin syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0222804418498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.899	0.03161	T	0.0	0.07471	B	0.001	0.06944	B	0.022920	0.01583	N	2.739120	1	0.08975	N	1.445	0.36358	L	-1.17	0.78199	T	-0.42	0.14193	N	0.047	0.06322	-0.9400	0.42616	T	0.248	0.61704	T	10	0.057530522	0.06623	T	0.02228	0.45152	T	0.108	0.30607	0.254	0.19378	0.332133492242	0.32818	0.285202158648211	0.28433	0.147450757284	0.16638	0.226781696081	0.01738	T	0.017169	0.15948	T	-0.203184	0.20346	T	-0.529636	0.19322	T	0.110395364463329	0.13463	T	0.586341	0.21412	T	0.05707829	0.11314	0.040563837	0.04412	0.05707829	0.11313	0.040563837	0.04412	-4.194	0.26665	T	.	.	0.076	0.06942	B	.;.;.;.;.	.;.;.;.;.	0.678104	0.10466	7.184	0.82789088625036433	0.14376	0.04237	0.09759	N	AEFDBI	0.044080	0.07050	N	-1.0407603837013	0.07770	0.3620799	-1.03855970076978	0.08947	0.4424818	0.998208038185634	0.36574	0.562547	0.31514	0	0.653731	0.59785	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.8	0.495	0.16098	0.140000	0.15877	1.155000	0.24510	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4288:0.2724:0.2988	5.265	0.14906	15	0.98792	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1271.33	35	chr15	43235738	.	C	T	1271.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.368;SOR=0.656	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1285,0,1349	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:94,41:135:86:86,0,2214	3	0	13	3
chr15	65928461	65928461	C	T	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon11:c.G1414A:p.V472I,MEGF11:NM_001385031:exon12:c.G1399A:p.V467I,MEGF11:NM_001385032:exon12:c.G1399A:p.V467I,MEGF11:NM_001385028:exon13:c.G1639A:p.V547I,MEGF11:NM_001385029:exon13:c.G1639A:p.V547I,MEGF11:NM_001385033:exon13:c.G1639A:p.V547I,MEGF11:NM_032445:exon13:c.G1639A:p.V547I	.	423	1080	19	0	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0057	0.0161741	0.0082	0.0110	0.0018	0.0005	0.0041	0.0023	0.0067	0.0405	0.0074708	1155	154602	rs137866207	0.0047	0.0048	0.0038	0.0057	0.0379	0.0046	0.0046	0.0368	0.0364	0.0104	0.0022	0.0023	0.0002	0.0042	0.0035	0.0023	0.0057	0.0379	0.0060	0.0060	0.0054	0.0067	0.0417	0.0057	0.0056	0.0370	0.0351	0.0107	0	0.0039	0.0017	0.0010	0.0042	0	0.0022	0.0024	0.0417	0.372	0.12148	T	0.459	0.16717	T	0.045	0.24734	B	0.017	0.21332	B	0.242038	0.15691	N	0.461218	0.999999	0.58761	D	1.61	0.41143	L	1.42	0.33189	T	-0.56	0.17003	N	0.233	0.29429	-1.0399	0.17343	T	0.021	0.08686	T	10	0.0032506585	0.00055	T	.	.	.	0.012	0.01476	.	.	0.132336055621	0.12781	0.10269579567288208	0.10199	0.0764374935664	0.08578	0.291206181049	0.09098	T	0.01175	0.10435	T	-0.67641	0.00050	T	-0.715116	0.05035	T	0.00637294836016821	0.00071	T	0.517348	0.18358	T	0.014421166	0.00092	0.026225425	0.00701	0.014421166	0.00092	0.026225425	0.00701	-5.082	0.37717	T	.	.	0.069	0.03849	B	.;.;.;.	.;.;.;.	0.318226	0.06928	3.473	0.92647063172426736	0.22123	0.20762	0.21159	N	AEFDHCI	0.080202	0.16213	N	-0.85728485817332	0.11871	0.5753459	-0.829400443736952	0.13783	0.7169121	0.999770147063817	0.42865	0.713056	0.82018	0	0.615948	0.52940	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	4.03	1.01	0.19044	-0.160000	0.10029	-4.029000	0.02384	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.314000	0.24830	0.0:0.6534:0.0:0.3466	8.568	0.32715	184	0.92813	Laminin EGF domain|Laminin EGF domain|EGF-like domain;.;Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006592	0.000000	0.005450	0.008772	0.000000	0.017241	0.000000	0.019231	0.07895	1938.77	35	chr15	65928461	.	C	T	1938.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.12;DP=695;ExcessHet=0;FS=0.836;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.2;ReadPosRankSum=-0.099;SOR=0.567	GT:AD:DP:GQ:PL	1/1:2,48:50:99:1434,101,0	17	1	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	0/1:27,12:39:27:27,0,713	9	0	10	0
chr15	78274284	78274284	G	C	exonic	DNAJA4	.	nonsynonymous SNV	DNAJA4:NM_001130182:exon4:c.G506C:p.G169A,DNAJA4:NM_001130183:exon4:c.G425C:p.G142A,DNAJA4:NM_018602:exon5:c.G593C:p.G198A	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	.	0.0002	0.00519169	0.0025	0.0002	8.678e-05	0.0001	0	0.0002	0.0022	0.0170	0.0021345	330	154602	rs149661275	0.0012	0.0012	0.0007	0.0017	0.0170	0.0011	0.0011	0.0163	0.0160	8.961e-05	0.0003	0.0001	5.038e-05	0	0.0033	0.0001	0.0014	0.0170	0.0008	0.0008	0.0005	0.0012	0.0201	0.0007	0.0007	0.0169	0.0157	9.623e-05	0	0.0005	0.0003	0.0006	0	0.0034	0.0002	0.0009	0.0201	0.001	0.78490	D	0.022	0.83351	D	0.999	0.77913	D	0.919	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	-0.16	0.69657	T	-5.51	0.86527	D	0.808	0.82862	0.569	0.91487	D	0.661	0.88235	D	10	0.014220059	0.00299	T	.	.	.	0.685	0.88490	.	.	0.921348960271	0.92055	0.5592713310500774	0.55854	0.944348631935	0.72353	0.623005867004	0.56154	T	0.168107	0.51499	T	-0.00535027	0.50913	T	0.232512	0.84791	D	0.178344698035607	0.19130	T	0.983602	0.94423	D	0.8629819	0.88313	0.82959324	0.90158	0.8629819	0.88315	0.82959324	0.90159	-9.519	0.73202	D	.	.	0.659	0.71281	P	.;.;.;.	.;.;.;.	5.040104	0.83879	28.2	0.99853672934908155	0.93279	0.99387	0.95371	D	AEFDBI	0.939978	0.94130	D	1.133867259664	0.98714	19.12637	1.06288667865194	0.99516	23.37584	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	9.790000	0.98212	11.653000	0.93904	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.287	0.94064	744	0.52588	.;Heat shock protein DnaJ, cysteine-rich domain|Chaperone DnaJ, C-terminal|Heat shock protein DnaJ, cysteine-rich domain|Heat shock protein DnaJ, cysteine-rich domain;Heat shock protein DnaJ, cysteine-rich domain|Chaperone DnaJ, C-terminal|Heat shock protein DnaJ, cysteine-rich domain|Heat shock protein DnaJ, cysteine-rich 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	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	1573.33	34	chr15	78274284	.	G	C	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.114;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.617;SOR=0.666	GT:AD:DP:GQ:PL	0/1:99,61:160:99:1587,0,2794	18	0	1	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	0/1:14,0:47:99:.:.:177,0,2296:.	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	0/1:14,0:47:99:.:.:177,0,2296:.	9	0	10	0
chr15	82830602	82830602	C	T	exonic	WHAMM	.	nonsynonymous SNV	WHAMM:NM_001080435:exon9:c.C1645T:p.R549C	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00532200466614	0.0013	0.000998403	0.0012	0.0002	0.0010	0	0	0.0015	0.0011	0.0017	0.0010737	166	154602	rs142422388	0.0011	0.0011	0.0011	0.0011	0.0017	0.0011	0.0010	0.0014	0.0014	0.0001	0.0009	0.0027	0	7.5e-05	0.0008	0.0012	0.0010	0.0017	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0002	0	0.0006	0.0032	0	9.438e-05	0	0.0012	0.0005	0.0010	0.228	0.18434	T	0.189	0.28575	T	0.0	0.02946	B	0.0	0.01387	B	0.765869	0.06568	N	1.116300	0.999999	0.08975	N	-1.275	0.00739	N	3.12	0.08106	T	3.15	0.00121	N	0.123	0.11483	-0.9080	0.47097	T	0.005	0.01506	T	10	0.0028557181	0.00046	T	0.005322	0.13618	T	0.069	0.20116	.	.	0.0297737177859	0.01360	0.16385699463753164	0.16305	0.0483182337376	0.05281	0.183945998549	0.00136	T	6.3E-4	0.00271	T	-0.636877	0.00087	T	-0.69487	0.06111	T	0.0131290138891474	0.00231	T	0.507849	0.16117	T	0.0561342	0.11004	0.035364404	0.02775	0.0561342	0.11003	0.035364404	0.02775	-6.606	0.51099	T	.	.	0.083	0.09336	B	.	.	-0.198355	0.03100	0.490	0.72740292430445108	0.10079	0.00515	0.02406	N	AEFDBHIJ	0.022586	0.01147	N	-1.46443680437737	0.02106	0.09263855	-1.46167721799125	0.02666	0.1230391	0.999878363887486	0.44625	0.729952	0.87565	0	0.585951	0.33947	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.5	-4.75	0.03003	-0.698000	0.05194	-7.106000	0.01230	-0.242000	0.07441	0.019000	0.19563	0.000000	0.08366	0.042000	0.14466	0.0:0.504:0.1433:0.3526	7.455	0.26429	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	536.33	31	chr15	82830602	.	C	T	536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.23;DP=574;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.24;SOR=0.693	GT:AD:DP:GQ:PL	0/1:19,19:38:99:550,0,564	18	0	1	0
chr15	88630167	88630167	G	A	exonic	AEN	.	nonsynonymous SNV	AEN:NM_022767:exon4:c.G851A:p.C284Y	.	415	1059	46	2	0	50	0.0230627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0057	0.00778754	0.0096	0.0011	0.0056	0	0.0060	0.0086	0.0121	0.0278	0.0083569	1292	154602	rs118097475	0.0084	0.0084	0.0078	0.0091	0.0266	0.0083	0.0083	0.0257	0.0253	0.0011	0.0057	0.0088	2.519e-05	0.0064	0.0101	0.0078	0.0072	0.0266	0.0069	0.0069	0.0070	0.0069	0.0249	0.0066	0.0064	0.0213	0.0199	0.0011	0.0165	0.0107	0.0081	0	0.0067	0.0102	0.0087	0.0095	0.0249	0.831	0.02876	T	1.0	0.01155	T	0.014	0.16867	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.27	0.17431	T	-0.1	0.08495	N	0.074	0.04790	-0.9803	0.34932	T	0.012	0.04605	T	9	0.002837807	0.00045	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.29859636252446525	0.29772	0.150128431297	0.16938	0.263610422611	0.05328	T	0.027685	0.20221	T	-0.692297	0.00041	T	-0.746263	0.03633	T	0.00270222386677056	0.00028	T	0.461754	0.13398	T	0.08648601	0.20104	0.081791975	0.18616	0.08648601	0.20104	0.081791975	0.18616	-5.119	0.38107	T	.	.	0.069	0.03231	B	.	.	-1.185169	0.00546	0.013	0.65711679914311028	0.07850	0.08236	0.14191	N	AEFGBCI	0.051128	0.09002	N	-1.79489216728866	0.00558	0.02402399	-1.89809837427172	0.00494	0.0218834	0.999999999999766	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.37	-10.7	0.00191	-1.813000	0.01819	-2.601000	0.03561	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2179:0.3231:0.459:0.0	10.604	0.44574	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.010870	0.000000	0.000000	0.000000	0.012195	0.022727	0.02632	2294.33	34	chr15	88630167	.	G	A	2294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.519;DP=831;ExcessHet=0;FS=0.524;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.574;SOR=0.651	GT:AD:DP:GQ:PL	0/1:95,97:192:99:2308,0,2221	18	0	1	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,46:46:99:.:.:2027,140,0:.	1	15	1	2
chr15	90231459	90231459	C	T	exonic	CIB1	.	nonsynonymous SNV	CIB1:NM_001277764:exon4:c.G364A:p.A122T,CIB1:NM_006384:exon4:c.G244A:p.A82T	.	421	1097	4	0	0	4	0.00181984	.	.	YES	1157572	not_provided|CIB1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	.	.	0.00519169	0.0035	0	0.0003	0.0002	0	0	0.0011	0.0250	0.0029624	458	154602	rs562237879	0.0015	0.0015	0.0008	0.0022	0.0240	0.0015	0.0014	0.0232	0.0228	2.987e-05	2.236e-05	0	0	0	0.0019	1.439e-05	0.0018	0.0240	0.0008	0.0008	0.0003	0.0013	0.0250	0.0007	0.0007	0.0214	0.0200	0	0	6.536e-05	0	0.0002	0	0	1.47e-05	0.0005	0.0250	0.748	0.03609	T	0.439	0.13365	T	0.0	0.02946	B	0.0	0.01387	B	0.139973	0.02877	N	1.677480	1	0.08975	N	0	0.06538	N	2.96	0.09542	T	-0.08	0.08187	N	0.13	0.16447	-0.9823	0.34468	T	0.018	0.07565	T	10	0.0018526614	0.00025	T	.	.	.	0.098	0.28162	0.27	0.21893	0.104622674875	0.10061	0.2278705604284973	0.22702	0.155556298816	0.17554	0.26748585701	0.05815	T	0.134338	0.46552	T	-0.773564	0.00012	T	-0.865694	0.00784	T	0.0076744546124589	0.00089	T	0.148285	0.01234	T	0.10853205	0.25661	0.092734426	0.21870	0.10853205	0.25661	0.092734426	0.21869	-3.041	0.11022	T	.	.	0.067	0.02488	B	.;.	.;.	0.042038	0.04581	1.258	0.84514030562110309	0.15336	0.03839	0.09189	N	ALL	0.106545	0.21255	N	-1.43471751007714	0.02340	0.1031962	-1.46088107625463	0.02673	0.1233793	0.999999960542485	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.63	-4.86	0.02902	-3.285000	0.00583	-0.717000	0.07722	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.0:0.5997:0.0:0.4003	15.273	0.73416	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	698.33	36	chr15	90231459	.	C	T	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=1.34;SOR=0.662	GT:AD:DP:GQ:PL	0/1:61,34:95:99:712,0,1492	18	0	1	0
chr15	92630239	92630239	A	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.T451C:p.S151P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0370127425349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.000000	0.971522	0.81001	D	2.25	0.63811	M	0.84	0.47477	T	-3.52	0.68412	D	0.836	0.83167	-0.6952	0.60666	T	0.243	0.61142	T	10	0.6516975	0.69640	D	0.037013	0.57355	D	0.189	0.46613	0.326	0.30873	0.203808441222	0.19973	0.4683697378432957	0.46755	1.28596125054	0.82662	0.607195258141	0.53919	T	0.103651	0.41249	T	-0.0193351	0.48948	T	-0.26555	0.48267	T	0.985782146453857	0.76677	D	0.772023	0.40277	T	0.5808712	0.71656	0.694429	0.82011	0.5808712	0.71657	0.694429	0.82012	-11.545	0.82564	D	.	.	0.913	0.83689	P	.	.	3.664272	0.52068	23.2	0.99805816475953246	0.88995	0.70514	0.34622	D	AEFGBHCI	0.303491	0.41145	N	0.415262786789674	0.62260	4.439111	0.350009233512953	0.58506	4.021693	0.9999999986463	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	2.88	0.32617	3.565000	0.53543	0.612000	0.20040	0.691000	0.84096	1.000000	0.71638	0.004000	0.18990	0.976000	0.56436	0.5445:0.4555:0.0:0.0	11.273	0.48384	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	415.99	37	chr15	92630239	.	A	G	415.99	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.793;DP=1519;ExcessHet=0.7564;FS=157.988;InbreedingCoeff=-0.2064;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.776;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:99:0|1:92630239_A_G:111,0,2621:92630239	10	0	4	5
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	2106.89	75	chr15	92630242	.	C	G	2106.89	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.614;DP=1407;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3775;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.07;ReadPosRankSum=-0.159;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:99:0|1:92630239_A_G:111,0,2622:92630239	3	0	5	11
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3125	2099.97	75	chr15	92630243	.	C	G	2099.97	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.828;DP=1406;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3798;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=-0.142;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:99:0|1:92630239_A_G:111,0,2622:92630239	3	0	5	11
chr16	271201	271201	C	T	splicing	RGS11	NM_003834:exon12:c.800+1G>A;NM_001286485:exon11:c.830+1G>A;NM_001286486:exon10:c.311+1G>A;NM_183337:exon12:c.863+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0013	0	9.141e-05	0.0177	0	1.618e-05	0	6.241e-05	0.0010155	157	154602	rs200760725	0.0005	0.0005	0.0005	0.0005	0.0178	0.0005	0.0005	0.0167	0.0163	2.988e-05	0.0001	3.83e-05	0.0178	0	0	8.999e-06	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0133	0.0004	0.0004	0.0108	0.0099	2.406e-05	0	6.533e-05	0	0.0133	0	0	4.411e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0809188	0.39565	T	0.124615	0.78539	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.176550	0.86786	29.0	0.99070841779932517	0.51715	0.98718	0.85968	D	AEFBI	.	.	.	0.899246542758443	0.91721	11.03006	0.703768055586047	0.82665	7.823582	0.999999743580594	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.074216	0.02223	0	0.092715	0.02821	0	0.967491	0.70063	4.78	4.78	0.60666	6.540000	0.73764	5.558000	0.48910	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.418000	0.27184	0.0:1.0:0.0:0.0	16.777	0.85416	737	0.53483	.;.;.	.	.	.	.	.	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	1695.33	33	chr16	271201	.	C	T	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.676;DP=800;ExcessHet=0;FS=3.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.718;SOR=0.857	GT:AD:DP:GQ:PL	0/1:56,69:125:99:1709,0,1397	18	0	1	0
chr16	667566	667566	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon41:c.G5224A:p.V1742M	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	.	0.00279553	0.0020	0	0.0002	0.0001	0	1.548e-05	0.0012	0.0143	0.0016753	259	154602	rs201597639	0.0008	0.0008	0.0004	0.0012	0.0133	0.0008	0.0008	0.0127	0.0124	2.987e-05	2.237e-05	0	2.519e-05	0	0.0003	4.497e-06	0.0008	0.0133	0.0004	0.0004	0.0003	0.0005	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0.0002	0	0	0	0	0.0120	0.009	0.57480	D	0.041	0.50514	D	0.93	0.56408	P	0.527	0.57058	P	0.000470	0.44119	U	0.093576	1	0.81001	D	2.19	0.61577	M	3.18	0.69777	T	-1.78	0.46673	N	0.242	0.32812	-0.4775	0.69458	T	0.329	0.69716	T	10	0.011935383	0.00259	T	.	.	.	0.158	0.41098	0.52	0.62217	0.316788114976	0.31282	0.271521310689603	0.27065	0.546399409518	0.51636	0.475173652172	0.35393	T	0.040457	0.25533	T	-0.290785	0.09557	T	-0.178793	0.56635	T	0.0647677809351308	0.07897	T	0.819918	0.48860	T	0.108039156	0.25547	0.14967738	0.35332	0.108039156	0.25547	0.14967738	0.35331	-5.391	0.40833	T	.	.	0.199	0.50073	B	.;.;.;.	.;.;.;.	3.443168	0.47909	22.5	0.99023980190399763	0.50634	0.51117	0.28821	D	AEFGBCI	0.115350	0.22684	N	-0.0311280158558632	0.40451	2.40233	-0.0510547452822444	0.37444	2.192505	0.999999475245188	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.26897	0.05253	2	0.592323	0.36904	0	.	.	4.9	2.93	0.33092	1.713000	0.37570	5.462000	0.48674	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.171:0.0:0.829:0.0	9.728	0.39508	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.02632	1260.33	82	chr16	667566	.	G	A	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.15;DP=1253;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.148;SOR=0.857	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1274,0,1028	18	0	1	0
chr16	1204250	1204250	C	T	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon10:c.C2243T:p.A748V,CACNA1H:NM_021098:exon10:c.C2243T:p.A748V	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1871358	Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.509	0.185598457647	.	.	7.811e-05	0	0	0.0008	0	3.541e-05	0	0	5.82e-05	9	154602	rs770371468	1.44e-05	1.573e-05	1.774e-05	1.103e-05	0.0003	9.26e-06	7.86e-06	0.0002	0.0001	0	0	3.84e-05	0.0003	0	0	5.402e-06	0	2.329e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.326	0.13306	T	0.392	0.15406	T	0.004	0.14655	B	0.001	0.10090	B	0.156111	0.17809	N	0.591999	1	0.08975	N	0.375	0.12094	N	-4.01	0.96370	D	-0.78	0.21644	N	0.12	0.11054	-0.2982	0.75035	T	0.537	0.82873	D	10	0.30545536	0.48063	T	0.185598	0.85822	D	0.509	0.78910	0.734	0.86719	0.996217624761	0.99617	0.23681888222551375	0.23596	.	.	0.518790125847	0.41456	T	0.158373	0.50136	T	-0.123742	0.32514	T	-0.043259	0.67482	D	0.016391337686497	0.00407	T	0.484852	0.14769	T	0.0328069	0.03377	0.030445065	0.01501	0.027638767	0.01983	0.029379534	0.01269	-5.676	0.43479	T	.	.	0.084	0.09820	B	.;.;.;.	.;.;.;.	0.300867	0.06766	3.282	0.94717965231948165	0.25387	0.04852	0.10586	N	AEFDBI	0.092816	0.18786	N	-1.57166520746831	0.01412	0.06156969	-1.64165903082377	0.01420	0.06418215	0.00780499735352428	0.11547	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.81	-4.33	0.03423	-0.426000	0.07076	-2.898000	0.03250	-0.927000	0.02165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3588:0.2748:0.0:0.3664	2.759	0.04975	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	1	0	0.001514	0.000000	0.001366	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1976.33	34	chr16	1204250	.	C	T	1976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.483;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.09;SOR=0.703	GT:AD:DP:GQ:PL	0/1:56,75:131:99:1990,0,1351	18	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,12:25:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:2247,562,419:1397263	4	5	5	5
chr16	2020112	2020112	G	A	exonic	NPW	.	nonsynonymous SNV	NPW:NM_001099456:exon1:c.G211A:p.G71R	.	431	1072	17	2	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0002	0.00539137	0.0081	0.0011	0.0028	0	0	0.0017	0.0041	0.0308	0.0024515	379	154602	rs375002657	0.0015	0.0016	0.0010	0.0020	0.0174	0.0015	0.0015	0.0166	0.0163	0.0001	0.0007	0.0011	2.778e-05	0	0.0062	0.0005	0.0021	0.0174	0.0012	0.0012	0.0009	0.0016	0.0191	0.0011	0.0010	0.0159	0.0148	0.0001	0	0.0031	0.0014	0	9.436e-05	0	0.0005	0.0024	0.0191	0.009	0.57480	D	0.167	0.30729	T	0.998	0.73220	D	0.823	0.59197	P	0.035863	0.24591	N	0.365843	1	0.08975	N	2.19	0.61577	M	0.53	0.55090	T	-3.07	0.63207	D	.	.	-0.9902	0.32551	T	0.135	0.45010	T	10	0.0048917234	0.00104	T	.	.	.	0.053	0.14996	0.381	0.39807	0.62298222662	0.61991	0.15304174746935897	0.15226	.	.	0.702227473259	0.67466	T	0.07337	0.34681	T	-0.456722	0.01030	T	-0.413889	0.31778	T	0.0339217840638893	0.02624	T	0.532447	0.17709	T	0.11730572	0.27657	0.06344589	0.12568	0.11730572	0.27657	0.06344589	0.12568	-4.097	0.25246	T	.	.	0.255	0.48978	B	.;.	.;.	1.890159	0.24007	16.23	0.99001124042822441	0.50148	0.03053	0.07952	N	AEFDBCI	0.037480	0.05162	N	-0.50431967601507	0.21940	1.168028	-0.74379208383424	0.15875	0.837091	0.999999941859873	0.74766	0.65757	0.49021	0	0.627178	0.54094	0	0.619478	0.44681	0	0.618803	0.45993	0	.	.	2.88	-0.254	0.12350	-0.061000	0.11650	2.431000	0.32730	-0.294000	0.06260	0.000000	0.06391	0.745000	0.26509	0.006000	0.07323	0.2787:0.2351:0.4862:0.0	3.058	0.05818	702	0.57624	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006674	0.000000	0.004167	0.002976	0.000000	0.000000	0.012422	0.011538	0.02632	720.33	34	chr16	2020112	.	G	A	720.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=701;ExcessHet=0;FS=1.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=2.3;SOR=0.494	GT:AD:DP:GQ:PL	0/1:27,28:55:99:734,0,595	18	0	1	0
chr16	2118223	2118223	-	GGCAGGAGGTGGC	exonic	PKD1	.	frameshift insertion	PKD1:NM_000296:exon5:c.768_769insGCCACCTCCTGCC:p.P257Afs*8,PKD1:NM_001009944:exon5:c.768_769insGCCACCTCCTGCC:p.P257Afs*8	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	687.29	39	chr16	2118223	.	G	GGGCAGGAGGTGGC	687.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.686;DP=751;ExcessHet=0;FS=2.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=-1.317;QD=19.09;ReadPosRankSum=-0.729;SOR=1.239	GT:AD:DP:GQ:PL	0/1:17,19:36:99:701,0,640	18	0	1	0
chr16	2181024	2181024	T	C	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.A2344G:p.K782E	.	417	1094	11	0	0	11	0.00500227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	0.0027	0.00359425	0.0063	0.0007	0.0011	0	0.0058	0.0073	0.0067	0.0165	0.0029819	461	154602	rs183093419	0.0052	0.0048	0.0049	0.0054	0.0097	0.0051	0.0050	0.0091	0.0088	0.0005	0.0009	0.0056	8.469e-05	0.0026	0.0039	0.0054	0.0043	0.0097	0.0034	0.0034	0.0034	0.0035	0.0110	0.0032	0.0031	0.0087	0.0078	0.0006	0	0.0020	0.0055	0.0004	0.0027	0	0.0053	0.0024	0.0110	0.005	0.63226	D	0.091	0.40110	T	0.997	0.70673	D	0.98	0.74843	D	.	.	.	.	0.997843	0.44246	D	1.955	0.52871	M	-0.89	0.74793	T	-1.99	0.45949	N	0.392	0.43320	-0.2133	0.77327	T	0.469	0.79556	T	9	0.0066529214	0.00151	T	.	.	.	0.323	0.64522	.	.	0.618427732164	0.61534	0.12256967062412229	0.12182	1.14369453892	0.79008	0.847276806831	0.89203	D	0.032	0.22383	T	-0.31767	0.07090	T	-0.222548	0.52490	T	0.0668162095816121	0.08196	T	0.782222	0.41780	T	0.27114758	0.50185	0.25164485	0.50779	0.27114758	0.50185	0.25164485	0.50778	-6.026	0.46497	T	.	.	0.327	0.55004	B	.	.	4.375281	0.67400	25.1	0.9968489404498786	0.79507	0.82774	0.41957	D	AEFBCI	0.621475	0.60615	D	0.324367891228629	0.57400	3.90736	0.238557677830413	0.52002	3.378056	0.150947528564716	0.17438	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.03	4.03	0.46115	5.828000	0.68999	6.099000	0.53531	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:0.0:1.0	11.920	0.52072	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	0.005092	0.000000	0.000000	0.000000	0.000000	0.000000	0.012270	0.018939	0.02632	582.33	33	chr16	2181024	.	T	C	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.764;DP=732;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.315;SOR=0.826	GT:AD:DP:GQ:PL	0/1:38,30:68:99:596,0,806	18	0	1	0
chr16	2246926	2246926	G	A	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon3:c.C227T:p.T76M,ECI1:NM_001919:exon3:c.C227T:p.T76M	.	429	1039	50	4	0	58	0.0271536	.	.	.	967234	Complex_I_deficiency|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.425	.	0.0028	0.00658946	0.0083	0.0006	0.0030	0	0.0017	0.0055	0.0089	0.0349	0.007432	1149	154602	rs112729404	0.0053	0.0053	0.0042	0.0064	0.0349	0.0052	0.0051	0.0338	0.0334	0.0010	0.0021	0.0174	7.557e-05	0.0016	0.0282	0.0031	0.0067	0.0349	0.0036	0.0036	0.0032	0.0041	0.0299	0.0034	0.0033	0.0259	0.0244	0.0007	0	0.0026	0.0135	0.0004	0.0012	0.0646	0.0037	0.0033	0.0299	0.072	0.34982	T	0.072	0.48336	T	0.943	0.55554	P	0.344	0.42549	B	0.000000	0.84330	N	0.050039	1	0.81001	D	2.23	0.63091	M	-0.37	0.68892	T	-3.35	0.66436	D	0.467	0.51851	-0.7118	0.59864	T	0.228	0.59372	T	10	0.0073796213	0.00168	T	.	.	.	0.425	0.73299	.	.	0.353125101423	0.34923	0.791210419671449	0.79073	0.23438854129	0.25976	0.49139213562	0.37632	T	0.400195	0.75784	T	-0.173626	0.24687	T	0.00358432	0.70568	D	0.0677868819702007	0.08337	T	0.89861	0.64536	D	0.44832537	0.63935	0.29479742	0.55511	0.44832537	0.63936	0.29479742	0.55510	-7.575	0.58136	D	.	.	0.157	0.46949	B	.;.;.;.	.;.;.;.	3.230173	0.44050	21.9	0.88066581068473471	0.17691	0.95841	0.66383	D	AEFBCI	0.818677	0.73988	D	-0.134269476967074	0.35905	2.068471	-0.218506891995213	0.30872	1.742091	0.605736620092496	0.21763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.22	0.36041	6.130000	0.71403	8.347000	0.77005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0817:0.1478:0.7705:0.0	9.082	0.35717	556	0.71678	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.025706	0.015152	0.010870	0.032164	0.050000	0.008621	0.036810	0.049242	0.02632	772.33	33	chr16	2246926	.	G	A	772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=669;ExcessHet=0;FS=2.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.387;SOR=1.022	GT:AD:DP:GQ:PL	0/1:22,33:55:99:786,0,421	18	0	1	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032753	0.005263	0.027624	0.044643	0.000000	0.051724	0.040625	0.046154	0.07895	3821.79	33	chr16	2770683	.	C	T	3821.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.357;DP=884;ExcessHet=0.3672;FS=13.505;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.009;SOR=0.969	GT:AD:DP:GQ:PL	0/1:40,29:69:99:778,0,1112	16	0	3	0
chr16	3356185	3356185	T	C	exonic	OR2C1	.	nonsynonymous SNV	OR2C1:NM_012368:exon1:c.T245C:p.L82P	.	425	1079	17	1	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.00996368830233	0.0003	0.000998403	0.0008	0	8.637e-05	0	0.0002	0.0004	0.0022	0.0039	0.0006404	99	154602	rs149625259	0.0004	0.0004	0.0003	0.0006	0.0055	0.0004	0.0004	0.0044	0.0042	5.974e-05	0.0002	0.0005	0	1.872e-05	0.0055	0.0001	0.0007	0.0047	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	7.216e-05	0	0.0003	0.0003	0	0	0.0034	0.0002	0.0005	0.0058	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.006932	0.31707	N	0.000000	0.999996	0.58761	D	3.935	0.96350	H	7.45	0.00391	T	-6.72	0.92561	D	0.918	0.92084	-1.1106	0.03019	T	0.007	0.02244	T	10	0.05266249	0.05334	T	0.009964	0.25923	T	0.362	0.68230	.	.	0.744465519958	0.74216	0.6316848835877995	0.63102	0.47767146227	0.46874	0.658551573753	0.61202	T	0.014473	0.12316	T	-0.224347	0.17404	T	-0.0946311	0.63810	T	0.230201423168182	0.21961	T	0.775622	0.40735	T	0.9833335	0.99353	0.95905834	0.98921	0.9833335	0.99353	0.95905834	0.98921	-11.41	0.81858	D	.	.	0.531	0.65959	A	.	.	4.165723	0.62598	24.5	0.99802440215782584	0.88728	0.92773	0.56510	D	AEFDBHCI	0.820796	0.74150	D	0.724313960735914	0.81226	7.472882	0.562388526199704	0.72263	5.782371	0.0830305240005124	0.15916	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.5	4.5	0.54382	5.995000	0.70302	.	.	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.0:1.0	11.802	0.51403	659	0.61982	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	2125.33	128	chr16	3356185	.	T	C	2125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.006;DP=2169;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.08;SOR=0.694	GT:AD:DP:GQ:PL	0/1:102,93:195:99:2139,0,2481	18	0	1	0
chr16	3770661	3770661	G	A	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon13:c.C2675T:p.P892L,CREBBP:NM_004380:exon14:c.C2789T:p.P930L	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0273671029145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25873	T	0.101	0.39040	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	-1.82	0.84047	D	-4.4	0.79482	D	0.709	0.71232	0.274	0.87139	D	0.673	0.88673	D	10	0.6226363	0.68065	D	0.027367	0.50187	D	0.444	0.74657	0.282	0.23801	0.799681602365	0.79781	0.20518052270054501	0.20435	0.0908813437941	0.10259	0.743765771389	0.73527	T	0.754536	0.93301	D	0.119654	0.66337	D	-0.0659016	0.65917	T	0.973892450332642	0.70283	D	0.812519	0.48098	T	0.17804207	0.38803	0.25774276	0.51496	0.17804207	0.38803	0.25774276	0.51495	-5.588	0.44048	T	0.28389580185625274	0.37961	0.117	0.38605	B	.;.;.	.;.;.	4.564680	0.71961	25.8	0.98710232539774889	0.45040	0.99343	0.94772	D	AEFDBI	0.884296	0.81386	D	0.720833382527548	0.80996	7.420364	0.742037008230753	0.85560	8.61741	0.999999999997661	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	8.934000	0.92434	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:1.0:0.0	20.181	0.98202	662	0.61715	.;.;.	.	.	.	.	.	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	1352.33	34	chr16	3770661	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.885;DP=711;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.207;SOR=0.569	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1366,0,1405	18	0	1	0
chr16	3983296	3983296	C	T	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon7:c.G2455A:p.A819T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.117482942069	.	.	4.604e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs764068928	2.342e-05	2.463e-05	2.945e-05	1.725e-05	5.007e-05	1.671e-05	1.47e-05	1.789e-05	1.54e-05	0	0	0	0	2.008e-05	0	2.581e-05	0	5.007e-05	6.565e-06	6.562e-06	0	1.343e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.112	0.28900	T	0.495	0.11371	T	0.004	0.12183	B	0.002	0.06944	B	0.002271	0.36887	N	0.299524	0.957708	0.38037	D	1.445	0.36358	L	-1.82	0.84047	D	-1.1	0.28497	N	0.126	0.11912	-0.5985	0.64879	T	0.358	0.72045	T	10	0.18393558	0.33744	T	0.117483	0.79727	D	0.241	0.54641	0.402	0.43245	0.646477510483	0.64355	0.41815367444387674	0.41731	0.408351417736	0.41678	0.335406631231	0.15750	T	0.258	0.62955	T	-0.152637	0.27900	T	-0.258712	0.48953	T	0.0957351252436638	0.11881	T	0.789321	0.42944	T	0.06302174	0.13225	0.09091528	0.21348	0.06302174	0.13224	0.09091528	0.21347	-4.901	0.35746	T	.	.	0.086	0.10883	B	.	.	1.941755	0.24664	16.48	0.96033942625046875	0.28512	0.46304	0.27730	N	ALL	0.187684	0.31498	N	-0.479484094281993	0.22754	1.217205	-0.355062701408912	0.26352	1.45505	0.99999999999953	0.74766	0.696267	0.57585	0	0.61073	0.52368	0	0.459711	0.06710	0	0.629945	0.49285	0	.	.	5.94	4.98	0.65679	2.519000	0.45206	.	.	0.585000	0.30472	0.963000	0.33788	0.975000	0.29991	0.011000	0.09372	0.0:0.8029:0.1285:0.0685	10.898	0.46243	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2018.33	40	chr16	3983296	.	C	T	2018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.553;DP=1038;ExcessHet=0;FS=3.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.094;SOR=1.003	GT:AD:DP:GQ:PL	0/1:76,79:155:99:2032,0,1821	18	0	1	0
chr16	12704921	12704921	C	T	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G418A:p.E140K	.	424	1053	44	1	0	46	0.0213755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0075	0.00539137	0.0065	0.0024	0.0080	0.0001	0.0061	0.0084	0.0144	0.0031	0.0064488	997	154602	rs149102231	0.0062	0.0062	0.0062	0.0063	0.0499	0.0061	0.0061	0.0452	0.0433	0.0036	0.0083	0.0356	5.038e-05	0.0050	0.0499	0.0057	0.0093	0.0026	0.0063	0.0063	0.0061	0.0064	0.0088	0.0059	0.0058	0.0076	0.0072	0.0024	0.0329	0.0088	0.0369	0	0.0057	0.0510	0.0065	0.0128	0.0033	0.856	0.02698	T	0.859	0.03418	T	0.003	0.11197	B	0.009	0.14300	B	0.182096	0.17075	N	0.643319	0.999965	0.19781	N	1.61	0.41143	L	-1.87	0.84415	D	-0.65	0.18877	N	0.133	0.12913	-0.8958	0.48408	T	0.210	0.56959	T	10	0.0033424199	0.00058	T	.	.	.	0.173	0.43840	.	.	0.334161072951	0.33023	0.5121376107525119	0.51135	0.0585219304848	0.06489	0.302525937557	0.10778	T	0.056636	0.30342	T	-0.411351	0.01947	T	-0.358245	0.38256	T	0.000492272297246034	0.00004	T	0.60384	0.22664	T	0.05335536	0.10085	0.048856646	0.07343	0.05335536	0.10084	0.048856646	0.07342	-6.533	0.50540	T	.	.	0.088	0.11461	B	.	.	0.915870	0.12904	9.415	0.77108861031554243	0.11740	0.19229	0.20579	N	AEFBI	0.140660	0.26262	N	-1.08559637687677	0.06908	0.3193624	-1.07588644487941	0.08177	0.4008957	3.89740331531611E-4	0.06781	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	2.26	0.27418	1.081000	0.30402	-0.311000	0.10039	-0.181000	0.10308	0.088000	0.22533	0.000000	0.08366	0.221000	0.22489	0.1582:0.5187:0.1534:0.1696	2.229	0.03747	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH 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	0.056395	0.050505	0.070652	0.073099	0.050000	0.043103	0.039634	0.026515	0.02632	2497.33	33	chr16	12704921	.	C	T	2497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.734;DP=788;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-1.414;SOR=0.566	GT:AD:DP:GQ:PL	0/1:63,96:159:99:2511,0,1399	18	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:141,47:188:69:69,0,2968	4	0	15	0
chr16	20032082	20032082	T	C	exonic	GPR139	.	nonsynonymous SNV	GPR139:NM_001002911:exon2:c.A715G:p.T239A,GPR139:NM_001318483:exon3:c.A436G:p.T146A	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00496538912371	0.0003	0.000599042	0.0007	0.0002	0.0003	0	0	0.0003	0.0011	0.0030	0.0005692	88	154602	rs143674735	0.0008	0.0008	0.0007	0.0009	0.0038	0.0008	0.0007	0.0035	0.0034	0.0001	0.0002	3.826e-05	0	0	0.0014	0.0007	0.0008	0.0038	0.0004	0.0004	0.0005	0.0003	0.0019	0.0003	0.0003	0.0010	0.0007	0.0002	0	0.0001	0.0003	0	0	0	0.0006	0.0005	0.0019	.	.	.	0.02	0.58613	D	0.001	0.07471	B	0.003	0.08700	B	0.000512	0.43753	N	0.236636	0.621927	0.32713	D	-0.69	0.01958	N	1.28	0.35960	T	.	.	.	0.07	0.04307	-0.9837	0.34140	T	0.082	0.32148	T	9	0.014321417	0.00301	T	0.004965	0.12504	T	.	.	.	.	0.698373489644	0.69576	0.549041339075561	0.54830	0.37326657118	0.38796	0.47767919302	0.35737	T	0.047132	0.27631	T	-0.56952	0.00223	T	-0.59453	0.13276	T	0.0124757559339403	0.00205	T	0.679032	0.28770	T	0.08369523	0.19338	0.108953565	0.26251	0.08369523	0.19338	0.108953565	0.26251	-2.541	0.06068	T	.	.	0.068	0.02927	B	.	.	2.167939	0.27628	17.53	0.97428426961868908	0.33916	0.86088	0.45304	D	AEFBI	0.279285	0.39337	N	-0.281707782003	0.29854	1.659355	-0.0661520958784801	0.36799	2.146227	0.0034972999322235	0.10145	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.62	4.53	0.55009	3.025000	0.49365	1.134000	0.24350	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0749:0.0:0.9251	10.643	0.44796	788	0.46569	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	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1857.33	41	chr16	20032082	.	T	C	1857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.959;DP=860;ExcessHet=0;FS=1.286;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.526;SOR=0.785	GT:AD:DP:GQ:PL	0/1:77,72:149:99:1871,0,1976	18	0	1	0
chr16	21402650	21402650	G	C	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	3.953e-05	0.0003	0.0011	0.0001	0.0001	0.0008	0.0007	0	0	0	0	0	0	0	0.0001	0.0011	0	1.816e-05	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	.	.	.	.	.	.	.	.	0.02778	129.95	24	chr16	21402650	.	G	C	129.95	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.515;DP=310;ExcessHet=0;FS=0;InbreedingCoeff=-0.0384;MLEAC=1;MLEAF=0.028;MQ=23.92;MQRankSum=-2.091;QD=6.84;ReadPosRankSum=-0.165;SOR=1.302	GT:AD:DP:GQ:PL	0/1:11,8:19:99:143,0,244	17	0	1	1
chr16	22266725	22266725	G	A	exonic	EEF2K	.	nonsynonymous SNV	EEF2K:NM_013302:exon15:c.G1613A:p.R538H	.	423	1098	1	0	0	1	0.000455166	.	.	.	3664083	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.504	0.0826325660749	7.7e-05	.	0.0001	0	0.0003	0	0	3.029e-05	0	0.0005	9.06e-05	14	154602	rs370102420	7.528e-05	7.593e-05	6.128e-05	8.942e-05	0.0005	6.384e-05	5.941e-05	0.0004	0.0003	0	0.0001	0	0	0	0.0002	4.947e-05	0.0001	0.0005	8.533e-05	8.529e-05	6.422e-05	0.0001	0.0006	4.952e-05	3.959e-05	0.0002	8.989e-05	2.404e-05	0	0.0002	0	0	0	0.0034	7.349e-05	0	0.0006	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	2.5	0.14408	T	-4.51	0.78222	D	0.89	0.88909	-1.0896	0.05599	T	0.117	0.41165	T	10	0.7832526	0.78031	D	0.082633	0.73942	D	0.504	0.78600	.	.	0.664167852428	0.66135	0.7906035301826511	0.79012	0.868651874649	0.69322	0.567491889	0.48323	T	0.547898	0.84638	D	0.00518938	0.52368	T	0.105937	0.77303	D	0.780802130699158	0.45101	D	0.986551	0.95418	D	0.7362548	0.80078	0.6869745	0.81590	0.7362548	0.80080	0.6869745	0.81591	-10.198	0.75088	D	.	.	0.418	0.60571	A	.	.	5.669226	0.92926	33	0.99959771122293051	0.99994	0.99403	0.95582	D	AEFDBI	0.873987	0.79664	D	0.968124009167871	0.94677	12.94829	0.970646573833372	0.97973	17.14813	0.999999999589363	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.602000	0.97623	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	20.879	0.99870	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	836.33	33	chr16	22266725	.	G	A	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.957;DP=721;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.403;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,32:59:99:850,0,714	18	0	1	0
chr16	23626394	23626394	G	A	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon7:c.C2590T:p.P864S	Fanconi anemia, complementation group N	0	1515	7	0	0	7	0.00230491	.	.	.	132179	Breast_and/or_ovarian_cancer|Pancreatic_cancer,_susceptibility_to,_3|Familial_cancer_of_breast|Fanconi_anemia_complementation_group_N|not_provided|Malignant_tumor_of_breast|Breast_carcinoma|not_specified|Breast-ovarian_cancer,_familial,_susceptibility_to,_5|Hereditary_cancer-predisposing_syndrome	MedGen:CN221562|MONDO:MONDO:0013236,MedGen:C3150547,OMIM:613348,Orphanet:1333|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0012565,MedGen:C1835817,OMIM:610832,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MedGen:CN169374|MONDO:MONDO:0957530,MedGen:C5830615,OMIM:620442|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	0.00776096203216	0.0024	0.00119808	0.0027	0.0006	0.0029	0	0.0002	0.0041	0.0055	0.0004	0.0027555	426	154602	rs45568339	0.0035	0.0035	0.0034	0.0035	0.0039	0.0034	0.0034	0.0038	0.0037	0.0007	0.0034	0.0122	0	0.0001	0.0028	0.0039	0.0037	0.0004	0.0028	0.0028	0.0032	0.0024	0.0045	0.0026	0.0025	0.0037	0.0033	0.0010	0	0.0045	0.0121	0	0	0.0034	0.0038	0.0071	0	0.116	0.31088	T	0.721	0.30436	T	0.578	0.38765	P	0.156	0.34472	B	0.011659	0.29451	N	0.294949	0.902823	0.27667	N	1.98	0.53716	M	1.29	0.35775	T	-3.55	0.76900	D	0.312	0.36989	-1.0567	0.12595	T	0.042	0.17994	T	10	0.00803414	0.00182	T	0.007761	0.20589	T	0.062	0.17934	.	.	0.546952355657	0.54350	0.3523105440982538	0.35145	0.120347762335	0.13553	0.30349957943	0.10924	T	0.008683	0.52133	T	-0.491797	0.00635	T	-0.477013	0.24766	T	0.0293721478485098	0.01894	T	0.749125	0.37025	T	0.25251874	0.48267	0.2777429	0.53729	0.30101725	0.52996	0.24160075	0.49560	-7.557	0.58010	D	0.5260667653086007	0.59761	0.140	0.30634	B	.;.	.;.	2.395732	0.30769	18.54	0.9776188538898315	0.35813	0.78914	0.39009	D	AEFBI	0.099298	0.19991	N	-0.162978979664241	0.34684	1.982725	-0.0706853707266134	0.36609	2.132622	0.00494393965160808	0.10771	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.93	2.82	0.32061	0.823000	0.27020	4.357000	0.43106	0.596000	0.33519	0.991000	0.37257	1.000000	0.68203	0.951000	0.49849	0.0:0.1657:0.5387:0.2956	8.502	0.32324	391	0.83213	Partner and localiser of BRCA2, WD40 domain;Partner and localiser of BRCA2, WD40 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.100000	0.000000	0.003049	0.000000	0.02632	1542.33	33	chr16	23626394	.	G	A	1542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.684;DP=768;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.846;SOR=0.839	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1556,0,1706	18	0	1	0
chr16	28866653	28866653	A	G	exonic	SH2B1	.	nonsynonymous SNV	SH2B1:NM_015503:exon1:c.A559G:p.T187A,SH2B1:NM_001145795:exon2:c.A559G:p.T187A,SH2B1:NM_001145796:exon2:c.A559G:p.T187A,SH2B1:NM_001145797:exon2:c.A559G:p.T187A,SH2B1:NM_001145812:exon2:c.A559G:p.T187A,SH2B1:NM_001308293:exon4:c.A559G:p.T187A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0118280547211	.	.	2.54e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs528079443	2.808e-05	2.805e-05	1.226e-05	4.407e-05	0.0005	2.089e-05	1.881e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.316e-05	0.0005	1.976e-05	1.972e-05	1.287e-05	2.699e-05	0.0006	5.25e-06	2.46e-06	0.0002	9.033e-05	0	0	0	0	0	0	0	0	0	0.0006	0.241	0.17643	T	0.844	0.03652	T	0.141	0.27581	B	0.039	0.23607	B	0.004898	0.33292	N	0.181068	0.720375	0.81001	D	0.235	0.09667	N	0.93	0.44065	T	-0.08	0.08187	N	0.288	0.32591	-1.0122	0.26228	T	0.045	0.19478	T	10	0.031230032	0.01256	T	0.011828	0.29841	T	0.044	0.11924	0.121	0.02793	0.143184338766	0.13958	0.2747921103980867	0.27392	0.253826429133	0.27951	0.645654082298	0.59367	T	0.057152	0.30487	T	-0.426052	0.01567	T	-0.54805	0.17513	T	0.033774943575768	0.02599	T	0.651335	0.26216	T	0.022074403	0.00847	0.030287609	0.01466	0.022074403	0.00846	0.030287609	0.01466	-2.313	0.04917	T	.	.	0.083	0.10931	B	.;.;.;.;.;.	.;.;.;.;.;.	2.076327	0.26409	17.11	0.81431444461302616	0.13682	0.73034	0.35731	D	AEFDBI	0.131814	0.25089	N	-0.865331437924862	0.11675	0.5647012	-0.722166465209726	0.16409	0.8679229	0.999691314371048	0.41870	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.48	2.23	0.27189	1.836000	0.38831	5.445000	0.48630	-0.051000	0.17024	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.8153:0.0:0.1847:0.0	7.679	0.27669	289	0.88525	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2187.33	33	chr16	28866653	.	A	G	2187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=807;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.444;SOR=0.752	GT:AD:DP:GQ:PL	0/1:87,83:170:99:2201,0,2202	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|1:110,40:150:99:0|1:29485610_ACACACTC_A:747,0,3967:29485610	5	0	12	2
chr16	29485823	29485823	G	A	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C653T:p.A218V	.	2	222	2	0	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.000773571985722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189817837	0.0006	0.0009	0.0006	0.0007	0.0038	0.0006	0.0005	0.0029	0.0026	0.0038	0.0019	0.0001	0.0002	0.0001	0.0016	0.0005	0.0008	0.0009	0.0013	0.0014	0.0013	0.0013	0.0033	0.0009	0.0008	0.0021	0.0018	0.0033	0	0.0032	0	0	0	0	0.0002	0.0055	0	0.123	0.27544	T	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	1.0	0.41392	T	-1.67	0.39887	N	0.093	0.07262	-1.0168	0.24755	T	0.060	0.25054	T	4	0.14982828	0.28348	T	7.74E-4	0.00568	T	0.080	0.23350	0.745	0.87654	0.0762999501168	0.06990	.	.	.	.	.	.	.	.	.	.	-0.238398	0.15554	T	-0.580218	0.14526	T	0.0120771141934273	0.00191	T	0.831417	0.49863	T	.	.	.	.	.	.	.	.	-3.85	0.21553	T	.	.	0.402	0.59683	A	.;.	.;.	0.206290	0.05902	2.344	0.98434448885483183	0.41431	0.00092	0.00608	N	AEFI	0.027924	0.02369	N	-0.911891008097902	0.10563	0.5053657	-1.15893758649099	0.06609	0.3186807	1.82063294692628E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	-1.036000	0.03671	-5.159000	0.01826	-1.036000	0.01678	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	91.12	11	chr16	29485823	.	G	A	91.12	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.751;DP=206;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0649;MLEAC=2;MLEAF=0.053;MQ=30.12;MQRankSum=0;QD=4.8;ReadPosRankSum=1.51;SOR=0.148	GT:AD:DP:GQ:PL	0/1:8,2:10:38:38,0,233	17	0	2	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7100.79	44	chr16	29810105	.	GGCAGCGGCA	G	7100.79	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.01;DP=1075;ExcessHet=1.3;FS=0.522;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.91;SOR=0.613	GT:AD:DP:GQ:PL	0/1:52,35:87:99:1254,0,2019	15	0	4	0
chr16	29810108	29810117	AGCGGCAGCG	0	exonic	MAZ	.	.	.	.	326	1004	17	0	175	192	0.00839506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1468.78	44	chr16	29810108	.	AGCGGCAGCG	*	1468.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.84;DP=1157;ExcessHet=2.0135;FS=0.52;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.673;SOR=0.654	GT:AD:DP:GQ:PL	0/1:52,35:87:99:1254,0,2019	14	0	5	0
chr16	30231760	30231760	G	T	exonic	NPIPB12;NPIPB13	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon4:c.C337A:p.R113S,NPIPB13:NM_001321892:exon5:c.C337A:p.R113S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00745545608796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.186	0.28860	T	0.06	0.23119	B	0.009	0.14300	B	.	.	.	.	.	.	.	.	.	.	1.0	0.41392	T	-2.4	0.52776	N	0.204	0.22742	-1.0359	0.18575	T	0.059	0.24686	T	6	0.15184423	0.28694	T	0.007455	0.19765	T	0.064	0.18567	0.602	0.73346	0.0716867268079	0.06686	0.006540373794900217	0.00622	.	.	.	.	.	0.018555	0.14935	T	-0.241122	0.15206	T	-0.584131	0.14177	T	0.0412370281216534	0.03914	T	0.631037	0.26618	T	0.25716707	0.48759	0.16959192	0.39004	0.25716707	0.48759	0.16959192	0.39004	-4.373	0.29188	T	.	.	0.736	0.74455	P	.;.	.;.	0.634508	0.10029	6.781	0.48327782686737081	0.04024	0.00252	0.01388	N	AEFI	0.045348	0.07407	N	-1.16663466792129	0.05511	0.2514522	-1.33062660413967	0.04039	0.1897123	1.36754740280715E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	0.532	-1.06	0.09491	-0.027000	0.12319	-2.858000	0.03289	0.219000	0.18061	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	265	0.89590	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	341.32	1	chr16	30231760	.	G	T	341.32	.	AC=1;AF=0.063;AN=16;BaseQRankSum=6.08;DP=153;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=22.78;MQRankSum=0.69;QD=6.83;ReadPosRankSum=-0.445;SOR=0.286	GT:AD:DP:GQ:PL	0/1:32,18:50:99:347,0,712	7	0	1	11
chr16	30534567	30534567	C	T	exonic	ZNF747	.	nonsynonymous SNV	ZNF747:NM_001305018:exon1:c.G113A:p.S38N,ZNF747:NM_001305019:exon1:c.G113A:p.S38N,ZNF747:NM_001305020:exon1:c.G113A:p.S38N,ZNF747:NM_023931:exon1:c.G113A:p.S38N	.	334	1183	3	2	0	7	0.00294985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.0105831	0.0098	0	0.0005	0.0002	0	0.0001	0.0043	0.0545	0.0053169	822	154602	rs372705822	0.0025	0.0026	0.0015	0.0035	0.0404	0.0024	0.0024	0.0393	0.0388	6.004e-05	9.096e-05	0	5.083e-05	0	0.0017	1.172e-05	0.0032	0.0404	0.0013	0.0013	0.0007	0.0020	0.0396	0.0012	0.0011	0.0350	0.0332	0.0001	0	0	0	0.0004	0	0	2.94e-05	0.0005	0.0396	0.019	0.50132	D	0.043	0.49942	D	0.026	0.19406	B	0.047	0.27757	B	.	.	.	.	0.998942	0.21775	N	1.98	0.53716	M	4.57	0.01917	T	-1.78	0.42001	N	0.11	0.11340	-1.0127	0.26070	T	0.012	0.04747	T	9	0.0042467117	0.00085	T	.	.	.	0.072	0.21020	.	.	0.126345400529	0.12197	0.29302030541785823	0.29215	0.234505343878	0.25988	0.659446716309	0.61329	T	0.025454	0.19032	T	-0.549018	0.00296	T	-0.529987	0.19287	T	0.0325358953936226	0.02394	T	0.466753	0.13720	T	0.16604364	0.36916	0.20168263	0.44161	0.16604364	0.36915	0.20168263	0.44160	-7.638	0.58771	D	.	.	0.380	0.60475	A	.;.;.	.;.;.	2.387315	0.30655	18.50	0.96777666632083759	0.31061	0.03478	0.08638	N	AEFDGBHCI	0.163597	0.28990	N	-0.588946057698609	0.19278	1.007766	-0.666951451628815	0.17789	0.9474677	0.999999999884014	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.5	1.48	0.21900	0.213000	0.17310	0.773000	0.21413	0.333000	0.19617	0.002000	0.15269	0.616000	0.25792	0.062000	0.16114	0.0:0.7126:0.2874:0.0	6.975	0.23850	214	0.91692	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	2689.33	37	chr16	30534567	.	C	T	2689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.397;DP=831;ExcessHet=0;FS=1.171;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.666;SOR=0.762	GT:AD:DP:GQ:PL	0/1:73,111:184:99:2703,0,1618	18	0	1	0
chr16	31081253	31081253	G	C	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G4929C:p.E1643D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00339754602589	.	.	8.583e-06	0	0	0	0	0	0	7.225e-05	6.5e-06	1	154602	rs558009960	3.448e-06	3.42e-06	1.37e-06	5.555e-06	4.696e-05	1.01e-06	7.3e-07	1.596e-05	9.39e-06	0	0	0	0	0	0	0	1.674e-05	4.696e-05	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.109	0.36912	T	0.043	0.49942	D	0.634	0.40281	P	0.167	0.35118	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	2.98	0.09356	T	-1.1	0.28497	N	0.043	0.02559	-0.9908	0.32398	T	0.017	0.06807	T	9	0.07988185	0.12903	T	0.003398	0.07633	T	0.044	0.11924	0.186	0.09517	0.448000600372	0.44423	0.13854412568569768	0.13777	0.178043713789	0.20030	0.279257982969	0.07389	T	0.017141	0.14038	T	-0.424227	0.01608	T	-0.663758	0.08015	T	0.0789898362714215	0.09857	T	0.686231	0.29475	T	0.09580425	0.22556	0.09317502	0.21994	0.09580425	0.22555	0.09317502	0.21993	-4.76	0.34121	T	.	.	0.127	0.27069	B	.;.	.;.	0.817983	0.11893	8.456	0.92962364793246899	0.22538	0.23870	0.22214	N	AEFDBCI	0.074613	0.14960	N	-0.398179931003507	0.25534	1.38679	-0.371618281148717	0.25847	1.423963	0.998641662617741	0.37371	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.54	2.05	0.25860	0.928000	0.28431	.	.	0.672000	0.70159	0.151000	0.23669	0.607000	0.25749	0.874000	0.41677	0.2953:0.0:0.7047:0.0	8.084	0.29924	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1040.33	42	chr16	31081253	.	G	C	1040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.058;DP=763;ExcessHet=0;FS=4.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.006;SOR=0.583	GT:AD:DP:GQ:PL	0/1:30,41:71:99:1054,0,974	18	0	1	0
chr16	31081270	31081270	C	G	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C4946G:p.P1649R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00574272071681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.46910	T	0.126	0.35205	T	0.513	0.37366	P	0.238	0.38539	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.84	0.10674	T	-1.23	0.31170	N	0.091	0.06990	-0.9795	0.35117	T	0.019	0.08173	T	9	0.10804215	0.20095	T	0.005743	0.14892	T	0.053	0.14996	0.264	0.20946	0.407901774203	0.40404	0.3210136649148717	0.32014	0.227428416323	0.25295	0.232673346996	0.02172	T	0.017635	0.14352	T	-0.280393	0.10627	T	-0.640541	0.09630	T	0.170776387823167	0.18632	T	0.70423	0.31438	T	0.04450847	0.07126	0.043195184	0.05317	0.04450847	0.07126	0.043195184	0.05317	-3.739	0.19895	T	.	.	0.096	0.15206	B	.;.	.;.	0.039862	0.04565	1.248	0.84449885596402519	0.15298	0.25984	0.22861	N	AEFDBCI	0.075761	0.15222	N	-0.608929570392151	0.18676	0.9714662	-0.630093189538726	0.18722	1.001373	0.999790158673374	0.43153	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.8	3.85	0.43556	-0.339000	0.07878	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.115000	0.18958	0.166:0.7497:0.0:0.0843	7.403	0.26150	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	42	chr16	31081270	.	C	G	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=761;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.523;SOR=0.599	GT:AD:DP:GQ:PL	0/1:40,29:69:99:808,0,1105	18	0	1	0
chr16	31416521	31416521	G	A	exonic	ITGAD	.	nonsynonymous SNV	ITGAD:NM_001318185:exon20:c.G2377A:p.V793M,ITGAD:NM_005353:exon20:c.G2374A:p.V792M	.	.	.	.	.	.	.	.	.	.	.	4158459	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.02589159295	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs770540502	1.37e-05	1.642e-05	6.812e-06	2.067e-05	5.799e-05	8.95e-06	7.27e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	1.081e-05	4.975e-05	5.799e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.981991	0.39840	D	3.205	0.89189	M	0.57	0.54347	T	-2.94	0.61435	D	0.622	0.63713	-0.1515	0.78879	T	0.371	0.73061	T	9	0.81472695	0.80722	D	0.025892	0.48835	D	0.366	0.68582	0.642	0.77903	0.837703744324	0.83615	0.6814951283726193	0.68088	0.734002323866	0.62873	0.463925629854	0.33848	T	0.224432	0.58886	T	-0.124633	0.32368	T	-0.235275	0.51259	T	0.957891583442688	0.65128	D	0.948305	0.80045	D	0.25332406	0.48354	0.31531087	0.57518	0.25332406	0.48354	0.31531087	0.57517	-7.838	0.59961	D	.	.	0.340	0.55896	B	.	.	3.703492	0.52832	23.3	0.99758797732851812	0.84851	0.96246	0.68209	D	AEFBI	0.204309	0.33076	N	0.479295670325852	0.65881	4.878755	0.329310983686722	0.57268	3.892021	0.375610211452569	0.19912	0.568482	0.32641	0	0.547309	0.14657	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.83	4.83	0.61880	2.896000	0.48355	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:1.0:0.0	15.447	0.74970	414	0.81871	Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	40	chr16	31416521	.	G	A	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.432;DP=753;ExcessHet=0;FS=2.063;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.694;SOR=1.074	GT:AD:DP:GQ:PL	0/1:37,30:67:99:704,0,875	18	0	1	0
chr16	50668038	50668038	G	A	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_001144972:exon4:c.C286T:p.P96S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00118327848243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	0.58	0.02598	N	0.113	0.10056	-1.0026	0.29168	T	0.064	0.26562	T	8	0.05747339	0.06607	T	0.001183	0.01509	T	0.042	0.11227	0.261	0.20473	0.225902525712	0.22197	.	.	.	.	.	.	.	.	.	.	-0.349074	0.04786	T	-0.739197	0.03924	T	0.0496708698005754	0.05443	T	0.385361	0.09439	T	.	.	.	.	.	.	.	.	-3.417	0.15286	T	.	.	0.100	0.17317	B	.	.	0.007636	0.04336	1.103	0.91860758756497141	0.21175	0.03472	0.08630	N	AEFBCI	0.029332	0.02749	N	-1.12027437158086	0.06283	0.2888141	-1.28357022357592	0.04652	0.2199369	0.999983512188597	0.51787	0.600919	0.35232	0	0.596877	0.49441	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.01	-4.61	0.03139	-0.917000	0.04134	-0.018000	0.12964	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4344:0.313:0.2526:0.0	4.586	0.11676	764	0.49969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1352.33	36	chr16	50668038	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=703;ExcessHet=0;FS=3.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.241;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,37:79:99:0|1:50668038_G_A:1366,0,1641:50668038	18	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	2171.83	33	chr16	57813723	.	T	*	2171.83	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.721;DP=861;ExcessHet=0.0107;FS=0.87;InbreedingCoeff=0.4747;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=5.84;ReadPosRankSum=-0.517;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:57813722_ATG_A:3489,238,0:57813722	16	2	1	0
chr16	70660114	70660114	C	A	exonic	IL34	.	nonsynonymous SNV	IL34:NM_001172771:exon7:c.C653A:p.S218Y,IL34:NM_001172772:exon7:c.C656A:p.S219Y,IL34:NM_152456:exon7:c.C656A:p.S219Y	.	.	.	.	.	.	.	.	.	.	.	3686548	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0206908979092	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749242332	4.792e-06	4.788e-06	4.087e-06	5.504e-06	4.641e-05	1.99e-06	1.28e-06	1.584e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	1.657e-05	4.641e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.336	0.18395	T	0.799	0.44910	P	0.195	0.36592	B	0.993509	0.08014	N	0.996321	1	0.08975	N	0	0.06538	N	1.45	0.32482	T	-0.65	0.18877	N	0.194	0.32148	-1.0568	0.12569	T	0.033	0.14247	T	10	0.08607489	0.14594	T	0.020691	0.43334	T	0.016	0.02506	0.216	0.13643	0.262662153117	0.25859	0.09559408697118849	0.09491	0.0640153949125	0.07131	0.344618737698	0.17126	T	0.002179	0.07427	T	-0.309064	0.07831	T	-0.581095	0.14447	T	0.0809416658670601	0.10107	T	0.412159	0.11436	T	0.04584277	0.07571	0.058617264	0.10860	0.04584277	0.07571	0.058617264	0.10860	-5.647	0.43219	T	.	.	0.084	0.09723	B	.;.;.	.;.;.	1.411968	0.18276	13.65	0.66964568479909614	0.08214	0.18078	0.20110	N	AEFDBCI	0.077369	0.15585	N	-0.670029836072713	0.16879	0.863861	-0.737257204763079	0.16036	0.8464119	0.838220270448992	0.24818	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.1	1.89	0.24700	0.406000	0.20754	1.833000	0.29130	0.594000	0.32500	0.000000	0.06391	0.004000	0.18990	0.006000	0.07323	0.0:0.6177:0.1826:0.1997	4.588	0.11689	285	0.88719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1931.33	39	chr16	70660114	.	C	A	1931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.063;DP=847;ExcessHet=0;FS=5.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.702;SOR=0.379	GT:AD:DP:GQ:PL	0/1:62,79:141:99:1945,0,1547	18	0	1	0
chr16	71432269	71432269	C	A	exonic	TLE7	.	nonsynonymous SNV	TLE7:NM_001367365:exon5:c.G450T:p.W150C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.023e-06	1.59e-06	0	7.941e-06	6.319e-06	0	0	.	.	0	0	0	0	0	0	6.319e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35035682	0.51909	T	.	.	.	.	.	.	.	.	.	0.3576483760796801	0.35678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560444	0.19591	T	0.22467335	0.45113	0.27915132	0.53881	0.22467335	0.45113	0.27915132	0.53880	-8.307	0.63142	D	.	.	0.491	0.64183	A	.	.	4.093473	0.60986	24.3	0.5630124354513395	0.05523	0.89514	0.50027	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0343553424479777	0.14150	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.062806	0.01542	0	0.151544	0.27487	4.41	2.38	0.28415	1.550000	0.35830	3.564000	0.39099	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.334000	0.25294	0.1641:0.6774:0.1585:0.0	9.263	0.36783	306	0.87689	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	38.36	.	chr16	71432269	.	C	A	38.36	.	AC=2;AF=0.111;AN=18;DP=22;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;QD=19.18;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	10
chr16	72788114	72788134	GCTGCTGCTGCTGTAGTTGCC	-	exonic	ZFHX3	.	nonframeshift deletion	ZFHX3:NM_001164766:exon9:c.7400_7420del:p.R2467_Q2473del,ZFHX3:NM_006885:exon10:c.10142_10162del:p.R3381_Q3387del	.	.	.	.	.	.	.	.	.	.	.	797385	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0079	.	0.0041	0.0008	0.0025	0.0005	0.0031	0.0057	0.0035	0.0030	0.0006916	18	26028	rs774837696	0.0044	0.0044	0.0045	0.0043	0.0047	0.0043	0.0042	0.0046	0.0046	0.0008	0.0023	0.0115	0.0004	0.0039	0.0010	0.0047	0.0041	0.0026	0.0030	0.0030	0.0032	0.0027	0.0045	0.0027	0.0027	0.0041	0.0039	0.0008	0	0.0024	0.0101	0.0002	0.0026	0.0069	0.0045	0.0033	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1994.29	35	chr16	72788113	.	TGCTGCTGCTGCTGTAGTTGCC	T	1994.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.567;DP=884;ExcessHet=0;FS=6.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=-0.252;SOR=0.99	GT:AD:DP:GQ:PL	0/1:44,51:95:99:2008,0,1685	18	0	1	0
chr16	75612364	75612364	C	T	exonic	ADAT1	.	nonsynonymous SNV	ADAT1:NM_001324452:exon5:c.G661A:p.V221I,ADAT1:NM_001324453:exon5:c.G661A:p.V221I,ADAT1:NM_001324445:exon6:c.G922A:p.V308I,ADAT1:NM_001324449:exon6:c.G922A:p.V308I,ADAT1:NM_001324451:exon6:c.G475A:p.V159I,ADAT1:NM_001324444:exon7:c.G475A:p.V159I,ADAT1:NM_001324446:exon7:c.G475A:p.V159I,ADAT1:NM_001324448:exon7:c.G922A:p.V308I,ADAT1:NM_001324450:exon7:c.G475A:p.V159I,ADAT1:NM_012091:exon7:c.G922A:p.V308I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0299778567587	.	0.000798722	0.0002	0	0	0.0022	0	1.499e-05	0.0011	0	0.000207	32	154602	rs151268456	0.0003	0.0003	0.0003	0.0003	0.0082	0.0002	0.0002	0.0075	0.0072	0	6.708e-05	0	0.0082	0	0	9.892e-06	0.0005	1.159e-05	0.0001	0.0001	0.0001	9.399e-05	0.0025	7.571e-05	6.276e-05	0.0015	0.0012	2.405e-05	0	6.533e-05	0	0.0025	0	0	0	0.0014	0	0.171	0.22746	T	0.317	0.19304	T	0.688	0.41582	P	0.307	0.41295	B	0.000817	0.41658	N	0.242242	0.999996	0.58761	D	2.24	0.63355	M	-3.62	0.95077	D	-0.21	0.10308	N	0.144	0.14480	0.341	0.88198	D	0.678	0.88874	D	10	0.022783935	0.00578	T	0.029978	0.52383	D	0.330	0.65226	.	.	0.762660517308	0.76049	0.30040524298535864	0.29953	0.0113215282385	0.01058	0.452038288116	0.32222	T	0.211169	0.57186	T	-0.191142	0.22089	T	-0.0878726	0.64322	T	0.0344903803626714	0.02721	T	0.889511	0.62170	D	0.04936929	0.08756	0.05399862	0.09204	0.04936929	0.08756	0.05399862	0.09204	-6.9	0.53299	T	.	.	0.086	0.10594	B	.	.	2.542449	0.32895	19.18	0.99583065401743398	0.73099	0.96932	0.71730	D	AEFBI	0.376553	0.46066	N	0.25029052940679	0.53653	3.533272	0.318598507468209	0.56633	3.826895	0.998732095683399	0.37559	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.49	0.54177	4.796000	0.62190	1.090000	0.23972	0.599000	0.40250	1.000000	0.71638	0.557000	0.25500	0.973000	0.55318	0.0:0.9215:0.0:0.0785	12.973	0.57926	550	0.72197	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	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	1845.33	34	chr16	75612364	.	C	T	1845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.623;DP=777;ExcessHet=0;FS=3.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.662;SOR=0.552	GT:AD:DP:GQ:PL	0/1:68,78:146:99:1859,0,1629	18	0	1	0
chr16	81044863	81044863	A	G	exonic	ATMIN	.	nonsynonymous SNV	ATMIN:NM_001300728:exon4:c.A1897G:p.M633V,ATMIN:NM_015251:exon4:c.A2365G:p.M789V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0118436730247	.	.	2.472e-05	0	0	0.0002	0	1.499e-05	0	0	4.53e-05	7	154602	rs761128611	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.038e-05	1.48e-06	9.7e-07	8.35e-06	3.12e-06	0	2.236e-05	0	5.038e-05	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.292	0.20877	T	0.024	0.19075	B	0.009	0.14300	B	0.000003	0.62929	N	0.159893	0.741314	0.33825	D	0.695	0.17993	N	1.42	0.33189	T	-0.92	0.25986	N	0.265	0.30004	-1.0089	0.27261	T	0.076	0.30645	T	10	0.1200569	0.22733	T	0.011844	0.29861	T	0.077	0.22490	0.598	0.72862	0.16115917748	0.15686	0.5238903073207397	0.52313	0.0381085968412	0.04051	0.589901268482	0.51480	T	0.156982	0.49938	T	-0.345787	0.04997	T	-0.508774	0.21441	T	0.0695265587545538	0.08584	T	0.790821	0.43180	T	0.15919913	0.35774	0.20226859	0.44247	0.15919913	0.35773	0.20226859	0.44246	-3.517	0.16671	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	1.862018	0.23653	16.10	0.91404014087027186	0.20671	0.94229	0.60507	D	AEFGBI	0.193071	0.32020	N	-0.12229710891516	0.36423	2.105107	0.0125284418010773	0.40295	2.402548	0.616912311621748	0.21851	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.02	3.67	0.41236	5.308000	0.65557	4.758000	0.44698	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.962000	0.52141	0.7418:0.2582:0.0:0.0	12.797	0.56946	686	0.59327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1695.33	36	chr16	81044863	.	A	G	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=843;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.911;SOR=0.724	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1709,0,1552	18	0	1	0
chr16	81159717	81159717	G	A	exonic	PKD1L2	.	unknown	UNKNOWN	.	420	1088	12	2	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0301518	0.0229	0.0019	0.1150	0.0767	0.0002	0.0006	0.0210	0.0471	0.0178329	2757	154602	rs75485939	0.0064	0.0065	0.0059	0.0070	0.0800	0.0063	0.0063	0.0778	0.0769	0.0017	0.0800	0.0002	0.0432	0.0004	0.0029	0.0004	0.0087	0.0366	0.0085	0.0085	0.0077	0.0093	0.0610	0.0081	0.0080	0.0554	0.0533	0.0020	0	0.0410	0.0006	0.0610	0	0	0.0003	0.0166	0.0431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.018939	0.02632	1467.33	37	chr16	81159717	.	G	A	1467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=899;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.097;SOR=0.467	GT:AD:DP:GQ:PL	0/1:48,57:105:99:1481,0,1069	18	0	1	0
chr16	83994659	83994659	G	A	exonic	NECAB2	.	nonsynonymous SNV	NECAB2:NM_001329749:exon7:c.G517A:p.A173T,NECAB2:NM_001329748:exon8:c.G766A:p.A256T,NECAB2:NM_019065:exon8:c.G766A:p.A256T	.	10	1503	9	0	0	9	0.00298507	.	.	.	2333199	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0135817766556	0.0005	0.000399361	0.0007	0.0004	0.0006	0	0.0006	0.0010	0.0022	0.0001	0.0007244	112	154602	rs148631295	0.0012	0.0012	0.0012	0.0012	0.0057	0.0011	0.0011	0.0042	0.0037	0.0005	0.0006	0.0010	0	0.0011	0.0057	0.0013	0.0014	0.0001	0.0010	0.0010	0.0011	0.0009	0.0018	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0018	0.0009	0.0002	0.0009	0.0102	0.0012	0.0024	0	0.08	0.42783	T	0.071	0.51737	T	0.132	0.27209	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	0.999769	0.51308	D	2.35	0.67516	M	2.11	0.23688	T	-1.73	0.41046	N	0.675	0.68255	-1.0743	0.08493	T	0.065	0.26843	T	10	0.028508276	0.00983	T	0.013582	0.33091	T	0.119	0.33137	.	.	0.0884992946249	0.08302	0.3164601622013032	0.31559	.	.	0.486569464207	0.36963	T	0.063387	0.32163	T	-0.33773	0.05547	T	-0.298435	0.44890	T	0.0432902498000795	0.04291	T	0.938506	0.76886	D	0.3126327	0.54013	0.20752403	0.45015	0.3126327	0.54013	0.20752403	0.45014	-9.482	0.70747	D	.	.	0.138	0.35013	B	.;.;.	.;.;.	4.340186	0.66583	25.0	0.99902837688219259	0.97426	0.97196	0.73256	D	AEFBI	0.863165	0.78163	D	0.171002137203808	0.49810	3.177389	0.274657892269287	0.54062	3.572574	0.999999999560153	0.74766	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.542086	0.14980	0	.	.	4.64	4.64	0.57399	7.211000	0.77438	11.622000	0.93628	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	14.654	0.68425	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.009511	0.017544	0.000000	0.000000	0.000000	0.000000	0.02632	826.33	37	chr16	83994659	.	G	A	826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.045;DP=716;ExcessHet=0;FS=1.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0.777;SOR=0.425	GT:AD:DP:GQ:PL	0/1:17,32:49:99:840,0,434	18	0	1	0
chr16	86532094	86532094	G	A	exonic	MTHFSD	.	stopgain	MTHFSD:NM_001159377:exon8:c.C1069T:p.Q357X,MTHFSD:NM_001159378:exon8:c.C1069T:p.Q357X,MTHFSD:NM_001159379:exon8:c.C1066T:p.Q356X,MTHFSD:NM_001159380:exon8:c.C1009T:p.Q337X,MTHFSD:NM_022764:exon8:c.C1066T:p.Q356X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.534e-05	0	0.0002	0	0	2.448e-05	0	0.0002	2.59e-05	4	154602	rs779136908	2.312e-05	2.599e-05	1.987e-05	2.65e-05	0.0002	1.673e-05	1.432e-05	9.074e-05	7.106e-05	0	0	4.492e-05	0	0	0	1.493e-05	5.282e-05	0.0002	1.977e-05	1.971e-05	1.288e-05	2.7e-05	0.0002	5.26e-06	2.46e-06	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.481206	0.12164	N	0.787677	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193028	0.73242	D	0.31893	0.89045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;Recessive	High;.;.;.;High	8.056781	0.97133	37	0.98109569961842824	0.38343	0.46686	0.27815	N	AEFDBCI	0.121847	0.23671	N	0.136483738834062	0.48172	3.032943	-0.140854434173286	0.33762	1.93471	0.0176145722183395	0.12970	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.528226	0.09195	0	.	.	4.98	0.86	0.18179	1.251000	0.32465	1.072000	0.23814	-0.179000	0.10443	0.238000	0.24727	0.004000	0.18990	0.003000	0.05239	0.0856:0.1837:0.4679:0.2627	3.655	0.07753	976	0.04745	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|MTHFSD, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|MTHFSD, RNA recognition motif;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	833.33	52	chr16	86532094	.	G	A	833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.061;DP=989;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.164;SOR=0.657	GT:AD:DP:GQ:PL	0/1:26,30:56:99:847,0,840	18	0	1	0
chr16	88713310	88713310	A	-	splicing	CTU2	NM_001012759:exon8:c.738-2A>-;NM_001318513:exon7:c.477-2A>-;NM_001012762:exon8:c.738-2A>-;NM_001318507:exon8:c.951-2A>-	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	934.29	33	chr16	88713309	.	TA	T	934.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.301;DP=718;ExcessHet=0;FS=4.012;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=2.02;SOR=0.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,28:60:99:0|1:88713309_TA_T:948,0,1104:88713309	18	0	1	0
chr16	88721207	88721207	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon39:c.G5627A:p.R1876K	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	398	1097	24	2	1	29	0.0126013	.	.	.	726889	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	.	.	0.00439297	0.0083	0	0.0088	0	0	0.0008	0.0143	0.0203	0.0012742	197	154602	rs201967733	0.0014	0.0013	0.0009	0.0019	0.0170	0.0013	0.0013	0.0162	0.0159	0.0002	0.0007	0	5.635e-05	5.486e-05	0.0046	0.0004	0.0019	0.0170	0.0012	0.0012	0.0008	0.0017	0.0220	0.0011	0.0010	0.0186	0.0173	0.0001	0.0088	0.0018	0	0	0	0	0.0005	0.0024	0.0220	0.39	0.10838	T	0.334	0.18340	T	0.005	0.12996	B	0.01	0.14941	B	0.355368	0.13752	N	0.639672	1	0.08975	N	0.46	0.12951	N	-0.59	0.71543	T	-0.11	0.08653	N	0.11	0.09631	-0.9628	0.38645	T	0.171	0.51181	T	10	0.0028022528	0.00044	T	.	.	.	0.051	0.14325	.	.	0.187035705434	0.18338	0.3578497636876715	0.35698	.	.	0.433200597763	0.29646	T	0.004706	0.04113	T	-0.482128	0.00719	T	-0.451694	0.27511	T	0.00300939526850538	0.00032	T	0.518348	0.16810	T	0.02860696	0.02224	0.02676825	0.00785	0.02860696	0.02224	0.02676825	0.00785	-3.423	0.15367	T	0.07969468372394607	0.03948	0.081	0.08129	B	.	.	-0.568638	0.01659	0.117	0.69857374410872997	0.09107	0.04711	0.10402	N	AEFBCI	0.043856	0.06984	N	-1.05770769683882	0.07436	0.3454741	-1.06897098041262	0.08316	0.4083712	0.0796209566764675	0.15823	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.63	1.82	0.24209	-1.595000	0.02196	-1.640000	0.05006	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4625:0.0:0.5375	4.553	0.11522	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004415	0.005376	0.000000	0.008621	0.000000	0.000000	0.000000	0.010870	0.05263	2935.83	118	chr16	88721207	.	C	T	2935.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.37;DP=1438;ExcessHet=0.119;FS=7.391;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.846;SOR=1.127	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1646,0,1461	17	0	2	0
chr16	89900636	89900636	C	G	exonic	TCF25	.	nonsynonymous SNV	TCF25:NM_014972:exon12:c.C1223G:p.A408G	.	425	1081	15	1	0	17	0.00780174	0.0001	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0038737488847	0.0037	0.00219649	0.0037	0.0006	0.0036	0.0001	0.0009	0.0047	0.0011	0.0052	0.0036287	561	154602	rs75719943	0.0046	0.0046	0.0046	0.0047	0.0050	0.0046	0.0045	0.0049	0.0048	0.0005	0.0023	0.0136	0	0.0008	0.0049	0.0050	0.0043	0.0050	0.0030	0.0030	0.0034	0.0025	0.0045	0.0028	0.0027	0.0040	0.0039	0.0008	0	0.0018	0.0153	0.0004	0.0010	0	0.0045	0.0028	0.0039	0.194	0.28520	T	0.261	0.22962	T	0.018	0.19075	B	0.026	0.23607	B	0.208935	0.16413	N	0.659388	0.922594	0.36722	D	0.975	0.24501	L	.	.	.	-1.65	0.39503	N	0.17	0.19055	-0.9063	0.47297	T	0.098	0.36574	T	9	0.008198619	0.00186	T	0.003874	0.09086	T	0.027	0.05988	.	.	0.314417295294	0.31040	0.10664353812247865	0.10594	0.154448843171	0.17448	0.322857230902	0.13853	T	0.032788	0.26786	T	-0.483383	0.00707	T	-0.464511	0.26109	T	0.00264271366004096	0.00028	T	0.794521	0.44963	T	0.12059963	0.28374	0.11749133	0.28364	0.12059963	0.28374	0.11749133	0.28363	-6.395	0.49471	T	.	.	0.084	0.09723	B	.;.	.;.	1.691293	0.21548	15.25	0.9789408958704614	0.36690	0.67411	0.33423	D	AEFGBCI	0.247582	0.36813	N	-0.520414616955509	0.21421	1.136666	-0.396363472616956	0.25105	1.378669	0.00958903472302979	0.11879	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.36	1.94	0.25058	0.747000	0.25956	1.148000	0.24458	-0.279000	0.06446	0.978000	0.35038	0.658000	0.26000	0.682000	0.33600	0.1134:0.515:0.3716:0.0	10.574	0.44406	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	1713.33	33	chr16	89900636	.	C	G	1713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.351;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.863;SOR=0.65	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1727,0,1843	18	0	1	0
chr17	4449297	4449297	G	C	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_001320449:exon6:c.G452C:p.G151A,SPNS3:NM_182538:exon7:c.G833C:p.G278A	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	7.7e-05	0.00279553	0.0021	0.0002	0.0002	0	0	0.0001	0.0022	0.0150	0.0018758	290	154602	rs201912448	0.0008	0.0008	0.0005	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	2.989e-05	6.725e-05	0.0001	0	0	0.0017	4.587e-05	0.0008	0.0129	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	7.22e-05	0	6.544e-05	0	0	0	0.0034	7.351e-05	0	0.0145	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.026	0.20792	B	0.000153	0.49130	D	0.178889	0.689164	0.33309	D	0.755	0.19153	N	0.37	0.57729	T	-0.09	0.08340	N	0.13	0.12484	-1.0081	0.27510	T	0.076	0.30522	T	10	0.0063791275	0.00144	T	.	.	.	0.094	0.27141	.	.	0.319970858106	0.31615	0.6738670218785657	0.67324	0.141389581085	0.15943	0.596584022045	0.52422	T	0.085738	0.37569	T	-0.423821	0.01618	T	-0.36989	0.36902	T	0.0358673044877379	0.02957	T	0.889011	0.61998	D	0.10377086	0.24529	0.16555831	0.38294	0.10377086	0.24529	0.16555831	0.38293	-5.956	0.45909	T	.	.	0.155	0.34205	B	.	.	3.074346	0.41339	21.3	0.27446281871379524	0.01363	0.73814	0.36105	D	AEFDBI	0.382196	0.46417	N	-0.286664669613745	0.29663	1.646946	-0.050988463508262	0.37448	2.192712	0.0920350723014115	0.16149	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	4.173000	0.58043	9.822000	0.81809	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.1736:0.8264:0.0	12.091	0.53028	716	0.55970	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	269.33	39	chr17	4449297	.	G	C	269.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.894;DP=810;ExcessHet=0;FS=3.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=-1.449;SOR=1.258	GT:AD:DP:GQ:PL	0/1:50,17:67:99:283,0,1379	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	1/1:2,128:130:99:.:.:4815,386,0:.	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	1/1:2,128:130:99:.:.:4815,386,0:.	1	11	5	2
chr17	7309625	7309625	A	G	exonic	EIF5A	.	nonsynonymous SNV	EIF5A:NM_001143760:exon2:c.A80G:p.K27R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0526174261351	.	.	0.0001	0	0	0.0015	0	0	0	0.0002	0.00011	17	154602	rs746429767	0.0001	0.0001	0.0001	9.763e-05	0.0023	8.915e-05	8.399e-05	0.0020	0.0018	0	0	0	0.0023	0	0.0003	1.709e-05	0.0001	0.0003	7.879e-05	7.874e-05	5.14e-05	0.0001	0.0012	4.493e-05	3.51e-05	0.0005	0.0003	0	0	0	0	0.0012	9.42e-05	0.0034	1.47e-05	0	0.0006	0.053	0.38863	T	0.032	0.53426	D	0.029	0.19866	B	0.031	0.21939	B	0.093281	0.20231	U	0.305292	1	0.81001	D	.	.	.	0.88	0.46028	T	-0.36	0.13035	N	0.109	0.09490	-1.0681	0.09836	T	0.080	0.31824	T	9	0.029262096	0.01053	T	0.052617	0.65141	D	0.057	0.16321	0.165	0.06955	0.476094503173	0.47238	0.3783851578214257	0.37753	0.00238928338445	0.00204	0.652685165405	0.60367	T	.	.	.	-0.503611	0.00546	T	-0.553954	0.16947	T	0.0844405940852373	0.10545	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	-3.19	0.12358	T	.	.	0.073	0.04681	B	.	.	2.637222	0.34303	19.59	0.99721329214629528	0.82054	0.95897	0.66626	D	AEFGBCI	0.902709	0.85090	D	-0.116004153232732	0.36696	2.124575	0.0189679040994113	0.40595	2.425291	0.99999999928651	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.13	4.13	0.47661	2.919000	0.48534	5.424000	0.48574	0.701000	0.85287	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.151	0.47685	550	0.72197	.	.	.	.	.	.	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	0.001058	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1608.33	34	chr17	7309625	.	A	G	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.491;DP=756;ExcessHet=0;FS=1.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.072;SOR=0.915	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1622,0,1671	18	0	1	0
chr17	7387124	7387124	G	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon9:c.G1382A:p.R461Q,TNK1:NM_003985:exon9:c.G1367A:p.R456Q	.	435	1084	3	0	0	3	0.00138185	.	.	.	3210618	TNK1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.088	0.0433254388713	0.0004	0.00219649	0.0011	0	0	0.0090	0.0010	0.0004	0.0038	0.0011	0.0009056	140	154602	rs117725656	0.0005	0.0005	0.0005	0.0006	0.0092	0.0005	0.0005	0.0085	0.0082	0.0002	9.366e-05	0.0009	0.0092	0.0012	0.0023	0.0002	0.0007	0.0011	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0005	0.0060	0.0053	2.428e-05	0	0.0005	0.0006	0.0079	0.0010	0	0.0003	0.0014	0.0017	.	.	.	0.457	0.13030	T	0.005	0.12996	B	0.002	0.06944	B	0.783791	0.06670	N	1.134030	1	0.08975	N	0.77	0.19370	N	-0.96	0.75553	T	.	.	.	0.16	0.16725	-1.0047	0.28547	T	0.119	0.41648	T	10	0.0052711964	0.00115	T	0.043325	0.60925	D	.	.	.	.	0.386234084001	0.38240	0.31638417363313465	0.31551	0.205651813161	0.22987	0.243927806616	0.03154	T	0.074936	0.35059	T	-0.515326	0.00468	T	-0.506892	0.21634	T	0.00813035949757539	0.00097	T	.	.	.	0.038573947	0.05166	0.05249558	0.08661	0.038573947	0.05166	0.05249558	0.08660	-3.823	0.21149	T	.	.	0.069	0.02960	B	.;.	.;.	0.733570	0.11029	7.685	0.93778345746620118	0.23734	0.00780	0.03203	N	AEFDBI	0.039673	0.05796	N	-1.37282017149591	0.02895	0.1285184	-1.35514634220426	0.03746	0.1753497	0.885995097100087	0.25731	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	4.82	-3.14	0.04928	-0.584000	0.05893	-0.263000	0.10410	-0.808000	0.03092	0.000000	0.06391	0.000000	0.08366	0.207000	0.22098	0.708:0.0:0.292:0.0	10.103	0.41687	192	0.92531	.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	643.33	34	chr17	7387124	.	G	A	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.616;SOR=0.752	GT:AD:DP:GQ:PL	0/1:24,22:46:99:657,0,687	18	0	1	0
chr17	7764030	7764030	-	AGTGC	exonic	DNAH2	.	frameshift insertion	DNAH2:NM_020877:exon19:c.3178_3179insAGTGC:p.I1061Cfs*23	.	405	1108	8	1	0	10	0.00449236	.	.	.	3210420	DNAH2-related_disorder|Spermatogenic_failure_45	.|MONDO:MONDO:0033671,MedGen:C5436791,OMIM:619094	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0018	0.00139776	0.0021	0.0005	0.0008	0	0.0015	0.0033	0.0022	0.0007	0.0019146	296	154602	rs538321530	0.0020	0.0020	0.0020	0.0019	0.0024	0.0019	0.0019	0.0020	0.0020	0.0003	0.0010	0.0058	2.519e-05	0.0024	0.0024	0.0021	0.0019	0.0010	0.0018	0.0018	0.0020	0.0017	0.0028	0.0017	0.0016	0.0023	0.0022	0.0003	0	0.0028	0.0043	0	0.0016	0.0034	0.0026	0.0033	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1239.29	33	chr17	7764030	.	A	AAGTGC	1239.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.096;DP=699;ExcessHet=0;FS=0.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.175;SOR=0.88	GT:AD:DP:GQ:PL	0/1:44,33:77:99:1253,0,1728	18	0	1	0
chr17	7794327	7794327	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon49:c.G7643A:p.R2548H	.	415	1100	7	0	0	7	0.00317173	.	.	.	2814858	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.402	0.0111905193113	0.0054	0.00399361	0.0046	0.0009	0.0024	0	0.0031	0.0067	0.0033	0.0029	0.004877	754	154602	rs11656500	0.0066	0.0066	0.0067	0.0064	0.0077	0.0064	0.0064	0.0076	0.0075	0.0012	0.0026	0.0023	2.559e-05	0.0027	0.0010	0.0077	0.0053	0.0039	0.0047	0.0047	0.0045	0.0049	0.0075	0.0045	0.0043	0.0069	0.0067	0.0014	0.0351	0.0048	0.0012	0	0.0020	0.0034	0.0075	0.0043	0.0031	0.065	0.36310	T	.	.	.	0.947	0.53479	P	0.708	0.54437	P	0.000013	0.62929	D	0.061409	0.999987	0.54805	D	-0.225	0.03956	N	-0.2	0.66113	T	-3.3	0.65858	D	0.4	0.44090	-0.9207	0.45458	T	0.129	0.43867	T	10	0.013890773	0.00293	T	0.011191	0.28559	T	0.402	0.71558	.	.	0.570543898189	0.56720	0.5127155948399713	0.51193	0.494379623259	0.47999	0.728341758251	0.71264	T	0.204485	0.56327	T	-0.101338	0.36203	T	0.0910532	0.76316	D	0.0292887383514319	0.01882	T	0.957304	0.83911	D	0.28714183	0.51726	0.23465924	0.48688	0.28714183	0.51726	0.23465924	0.48687	-8.041	0.61350	D	.	.	0.182	0.39562	B	.;.	.;.	4.981156	0.82510	27.8	0.99932708923725766	0.99439	0.96575	0.69827	D	AEFDBI	0.690709	0.65095	D	0.282876258352769	0.55279	3.692153	0.41244457907558	0.62339	4.447709	0.999075035344742	0.38370	0.616025	0.39624	0	0.59043	0.45803	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	5.83	5.83	0.93059	5.548000	0.66963	11.782000	0.96139	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.890	0.92366	343	0.85802	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1247.33	33	chr17	7794327	.	G	A	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.351;DP=774;ExcessHet=0;FS=7.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=0.388;SOR=0.788	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1261,0,1685	18	0	1	0
chr17	10523506	10523506	A	G	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon37:c.T5462C:p.L1821P,MYH2:NM_017534:exon37:c.T5462C:p.L1821P	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	937712	Myopathy,_proximal,_and_ophthalmoplegia	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.887	0.500181142683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.007846	0.31159	U	0.000000	1	0.81001	D	4.435	0.98769	H	-1.93	0.84842	D	-4.9	0.81514	D	0.935	0.94904	0.995	0.97104	D	0.855	0.95173	D	10	0.9611639	0.95528	D	0.500181	0.95139	D	0.887	0.96725	0.811	0.92719	0.957482142933	0.95703	0.6629248883988481	0.66229	1.18729455197	0.80180	0.8953820467	0.95912	D	0.694776	0.91158	D	0.465068	0.93140	D	0.430261	0.93055	D	0.998388409614563	0.93999	D	0.962304	0.85835	D	0.9210077	0.93346	0.9463505	0.98175	0.9210077	0.93346	0.9463505	0.98175	-16.118	0.97932	D	0.9705808519215402	0.99094	0.995	0.96107	P	.;.	.;.	5.594551	0.92407	32	0.99833041090007169	0.91456	0.99588	0.97739	D	AEFBI	0.959516	0.97989	D	1.0693637410323	0.97524	16.27729	0.972308118372528	0.98015	17.23907	0.999955009434609	0.48110	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	9.322000	0.95579	11.188000	0.88560	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.776	0.77985	419	0.81524	Myosin tail;Myosin tail	.	.	.	.	.	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	3512.33	39	chr17	10523506	.	A	G	3512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.925;DP=986;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:132,142:274:99:3526,0,3345	18	0	1	0
chr17	16772639	16772639	C	T	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_014695:exon17:c.C4181T:p.S1394L	.	430	1011	77	4	0	85	0.0403417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0003	.	0.0221	0.0015	0.0117	0	0	0.0057	0.0507	0.0858	0.0032535	503	154602	rs367741901	0.0034	0.0037	0.0023	0.0046	0.0363	0.0033	0.0033	0.0352	0.0348	0.0004	0.0016	0.0029	7.612e-05	0.0005	0.0229	0.0011	0.0046	0.0363	0.0022	0.0023	0.0016	0.0027	0.0376	0.0020	0.0019	0.0331	0.0314	0.0002	0	0.0010	0.0020	0.0002	0	0.0136	0.0017	0.0009	0.0376	0.941	0.02191	T	0.212	0.26549	T	0.007	0.14184	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.78	0.42001	N	0.051	0.02272	-0.9136	0.46403	T	0.004	0.01400	T	9	0.0036412776	0.00067	T	.	.	.	0.008	0.00669	.	.	0.0611884634855	0.05136	0.030174966776690806	0.02966	.	.	0.407027572393	0.26045	T	0.005443	0.04891	T	-0.701887	0.00036	T	-0.757303	0.03210	T	0.00600579891116739	0.00066	T	0.412159	0.10706	T	0.04079915	0.05892	0.038459543	0.03719	0.04079915	0.05892	0.038459543	0.03719	-3.464	0.15931	T	.	.	0.163	0.35931	B	.	.	0.381424	0.07531	4.182	0.97350647096782417	0.33520	0.00046	0.00367	N	AEFI	0.015492	0.00298	N	-1.38850593164188	0.02745	0.1216496	-1.48591277293548	0.02459	0.1131521	3.09531586246284E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.41	-2.81	0.05459	-0.322000	0.08049	-3.381000	0.02830	0.273000	0.18552	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2349:0.3117:0.4533	2.245	0.03782	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025524	0.000000	0.019231	0.048193	0.000000	0.037037	0.033333	0.021930	0.02632	917.33	34	chr17	16772639	.	C	T	917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=737;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.31;MQRankSum=-0.332;QD=9.97;ReadPosRankSum=0.657;SOR=0.73	GT:AD:DP:GQ:PL	0/1:48,44:92:99:931,0,990	18	0	1	0
chr17	16952474	16952474	C	G	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon2:c.G171C:p.Q57H	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	2	1517	3	0	0	3	0.000987817	.	.	.	844740	not_provided|Immunodeficiency,_common_variable,_2|TNFRSF13B-related_disorder	MedGen:C3661900|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.221	0.0617061990022	0.0002	.	0.0003	0	0	0.0001	0	0.0003	0.0011	0.0009	0.0002975	46	154602	rs149084717	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	2.987e-05	0.0001	0.0002	2.519e-05	0	0.0010	0.0002	0.0003	0.0011	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0.0003	0	0	0	0.0034	0.0003	0	0.0004	0.121	0.27783	T	0.14	0.33554	T	0.995	0.67487	D	0.848	0.60574	P	0.337444	0.14016	N	0.597735	1	0.08975	N	1.95	0.52479	M	-4.0	0.96339	D	-1.9	0.44284	N	0.285	0.32259	0.413	0.89294	D	0.880	0.96012	D	10	0.08330938	0.13844	T	0.061706	0.68417	D	0.221	0.51721	0.309	0.28128	0.77849948751	0.77646	0.22587528901614304	0.22502	0.0777884106708	0.08756	0.258597612381	0.04724	T	0.605257	0.87408	D	-0.182537	0.23358	T	-0.124133	0.61460	T	0.0252151817429217	0.01300	T	0.60094	0.22456	T	0.11089811	0.26208	0.07453472	0.16317	0.08547653	0.19830	0.07907799	0.17769	-4.844	0.35100	T	0.22690741608787626	0.30671	0.193	0.41280	B	.;.	.;.	1.687320	0.21502	15.23	0.48955271119825516	0.04128	0.03572	0.08784	N	AEFBCI	0.036534	0.04883	N	-0.227477237822579	0.32009	1.800758	-0.465836131590873	0.23101	1.258092	0.999922840096965	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.22	2.19	0.26890	0.737000	0.25812	1.962000	0.29942	0.419000	0.20781	0.015000	0.19116	0.981000	0.30433	0.283000	0.24091	0.0:0.7488:0.2512:0.0	8.080	0.29899	534	0.73357	TACI, cysteine-rich domain;TACI, cysteine-rich 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	0.003553	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	820.33	34	chr17	16952474	.	C	G	820.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.163;DP=715;ExcessHet=0;FS=5.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.551;SOR=0.292	GT:AD:DP:GQ:PL	0/1:29,33:62:99:834,0,705	18	0	1	0
chr17	17184886	17184886	A	G	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_015134:exon23:c.A3109G:p.K1037E,MPRIP:NM_001364716:exon24:c.A7270G:p.K2424E	.	.	.	.	.	.	.	.	.	.	.	3564161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.00902522936862	7.8e-05	.	0.0002	0	0	0	0	7.493e-05	0.0011	0.0010	0.0001552	24	154602	rs371569028	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0010	0.0009	0	0	0.0002	2.521e-05	0	0.0004	0.0001	0.0002	0.0012	0.0001	0.0001	0.0001	9.418e-05	0.0004	6.513e-05	5.324e-05	0.0001	8.293e-05	0	0	0.0003	0	0	0	0	0.0001	0	0.0004	0.006	0.61437	D	1.0	0.03438	T	0.417	0.35244	B	0.085	0.29395	B	0.000013	0.62929	D	0.110876	1	0.81001	D	.	.	.	2.05	0.26588	T	-0.64	0.18670	N	0.106	0.09066	-1.1140	0.02748	T	0.063	0.26279	T	10	0.03565997	0.01825	T	0.009025	0.23750	T	0.048	0.13305	.	.	0.147330786459	0.14319	0.06780886288905341	0.06718	0.714765047335	0.61905	0.404123485088	0.25642	T	.	.	.	-0.435184	0.01380	T	-0.46671	0.25872	T	0.14094452559948	0.16357	T	0.765423	0.39305	T	.	.	.	.	.	.	.	.	-4.431	0.29975	T	.	.	0.105	0.19438	B	.;.	.;.	4.025801	0.59491	24.1	0.99057076164401625	0.51390	0.92179	0.55121	D	AEFBI	0.365715	0.45379	N	0.0720111315665611	0.45161	2.777278	0.167949765379777	0.48101	3.030657	0.729605115607542	0.23028	0.722319	0.85440	0	0.724815	0.89359	0	0.644132	0.48003	0	0.735409	0.98432	0	.	.	5.26	4.18	0.48473	4.071000	0.57275	7.641000	0.63200	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.8527:0.1473:0.0:0.0	12.435	0.54933	568	0.70638	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1414.33	39	chr17	17184886	.	A	G	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.583;DP=747;ExcessHet=0;FS=2.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-1.155;SOR=0.994	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1428,0,1086	18	0	1	0
chr17	18727657	18727657	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon2:c.G100A:p.G34S,TRIM16L:NM_001353225:exon2:c.G100A:p.G34S,TRIM16L:NM_001353224:exon3:c.G100A:p.G34S,TRIM16L:NM_001353221:exon5:c.G406A:p.G136S,TRIM16L:NM_001353219:exon6:c.G262A:p.G88S,TRIM16L:NM_001353222:exon7:c.G100A:p.G34S,TRIM16L:NM_001353220:exon8:c.G100A:p.G34S,TRIM16L:NM_001353223:exon8:c.G100A:p.G34S	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0191105825696	0.0014	0.000599042	0.0016	9.61e-05	0.0009	0	0	0.0024	0.0011	0.0016	0.0013713	212	154602	rs145703700	0.0011	0.0011	0.0010	0.0012	0.0097	0.0011	0.0011	0.0077	0.0070	0.0004	0.0011	0.0081	0	3.744e-05	0.0097	0.0010	0.0021	0.0012	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0012	0.0011	0.0002	0	0.0018	0.0081	0	0	0.0034	0.0011	0.0014	0.0015	0.241	0.17643	T	0.512	0.10750	T	0.363	0.33965	B	0.071	0.27960	B	0.000064	0.52346	U	0.074077	0.99804	0.22380	N	0.975	0.24501	L	-0.25	0.67011	T	-2.11	0.48020	N	0.17	0.18103	-0.9863	0.33518	T	0.129	0.43747	T	10	0.008188307	0.00186	T	0.019111	0.41382	T	0.100	0.28662	.	.	0.365317461125	0.36143	0.2914576785952377	0.29058	.	.	0.622469604015	0.56078	T	0.128539	0.45626	T	-0.412395	0.01916	T	-0.378383	0.35912	T	0.0188325385854021	0.00594	T	0.809319	0.45944	T	0.062322527	0.13004	0.0869104	0.20166	0.062322527	0.13004	0.0869104	0.20166	-7.11	0.54832	T	.	.	0.146	0.32104	B	.	.	1.351926	0.17595	13.26	0.9716505428971336	0.32647	0.69389	0.34168	D	AEFDBHI	0.162815	0.28903	N	-0.514735915253303	0.21602	1.147684	-0.519597891989364	0.21622	1.170524	0.0396920521486324	0.14405	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	3.25	1.11	0.19640	1.737000	0.37821	0.688000	0.20738	0.217000	0.18040	0.981000	0.35396	0.110000	0.22784	0.035000	0.13729	0.246:0.0:0.754:0.0	7.425	0.26266	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010776	0.000000	0.013624	0.012500	0.000000	0.017241	0.012821	0.000000	0.07895	8272.79	35	chr17	18727657	.	G	A	8272.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.9;DP=1254;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.66;MQRankSum=-1.753;QD=12.53;ReadPosRankSum=0.432;SOR=0.703	GT:AD:DP:GQ:PL	0/1:88,98:186:99:2586,0,2183	16	0	3	0
chr17	19680020	19680020	C	T	exonic	SLC47A2	.	nonsynonymous SNV	SLC47A2:NM_001099646:exon16:c.G1412A:p.R471Q,SLC47A2:NM_152908:exon16:c.G1520A:p.R507Q,SLC47A2:NM_001256663:exon17:c.G1454A:p.R485Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00173780829235	.	0.000199681	3.339e-05	0.0002	8.746e-05	0	0	0	0	6.219e-05	3.23e-05	5	154602	rs563442400	2.258e-05	2.257e-05	2.723e-05	1.788e-05	0.0002	1.61e-05	1.416e-05	0.0001	7.817e-05	0.0001	0.0002	0	0	0	0	1.169e-05	1.656e-05	5.799e-05	7.885e-05	8.531e-05	7.714e-05	8.063e-05	0.0002	4.497e-05	3.512e-05	0.0001	9.922e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.614	0.05551	T	0.42	0.14116	T	0.0	0.02946	B	0.0	0.01387	B	0.959144	0.08235	N	0.978397	1	0.08975	N	0	0.06538	N	1.54	0.30133	T	0.44	0.03243	N	0.143	0.18376	-0.9782	0.35413	T	0.036	0.15683	T	10	0.022394866	0.00558	T	0.001738	0.02934	T	0.015	0.02232	0.32	0.29902	0.0138822411134	0.00435	0.08414570272253076	0.08348	0.120935417632	0.13625	0.318234145641	0.13154	T	0.017215	0.14083	T	-0.6114	0.00124	T	-0.761977	0.03042	T	0.00715039868322101	0.00082	T	0.444656	0.12411	T	0.027287785	0.01899	0.031684045	0.01792	0.027287785	0.01899	0.031684045	0.01792	-2.342	0.04790	T	.	.	0.061	0.01161	B	.;.	.;.	0.467071	0.08365	5.119	0.61279265587993559	0.06669	0.01204	0.04289	N	AEFGBCI	0.019885	0.00733	N	-1.66279889987187	0.00982	0.04257654	-1.63261336568447	0.01468	0.06642754	0.015079746485248	0.12671	0.554377	0.28877	0	0.588066	0.40923	0	0.564498	0.18976	0	0.613276	0.41899	0	.	.	4.04	1.74	0.23636	-1.688000	0.02027	-1.833000	0.04643	-1.257000	0.01296	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.6043:0.1908:0.0:0.2049	4.617	0.11817	453	0.79178	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	44	chr17	19680020	.	C	T	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.592;SOR=0.782	GT:AD:DP:GQ:PL	0/1:30,34:64:99:933,0,694	18	0	1	0
chr17	29572494	29572494	C	T	exonic	TP53I13	.	nonsynonymous SNV	TP53I13:NM_001346079:exon5:c.C737T:p.P246L,TP53I13:NM_001346081:exon5:c.C518T:p.P173L,TP53I13:NM_001346077:exon6:c.C791T:p.P264L,TP53I13:NM_001346078:exon6:c.C791T:p.P264L,TP53I13:NM_001346082:exon6:c.C518T:p.P173L,TP53I13:NM_138349:exon6:c.C866T:p.P289L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00542418049728	.	.	4.125e-05	0	0	0	0	3.685e-05	0	0.0002	3.84e-05	1	26028	rs768099091	2.552e-05	2.599e-05	3.015e-05	2.083e-05	2.356e-05	1.883e-05	1.644e-05	3.91e-06	1.46e-06	0	2.289e-05	0.0008	0	1.949e-05	0	2.712e-06	0.0002	2.356e-05	2.627e-05	2.626e-05	0	5.378e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0.0006	0	9.407e-05	0	1.47e-05	0	0	0.005	0.63226	D	0.0	0.92824	D	0.098	0.25584	B	0.011	0.15521	B	0.060163	0.22268	N	0.417832	0.999798	0.20333	N	2.36	0.67893	M	.	.	.	-4.19	0.75615	D	0.257	0.29081	-0.9654	0.38132	T	0.110	0.39627	T	9	0.05602026	0.06214	T	0.005424	0.13923	T	0.043	0.11576	0.128	0.03331	0.0551355673512	0.04727	0.31683450023111925	0.31596	0.107435418046	0.12125	0.542133629322	0.44747	T	0.228411	0.59395	T	-0.304743	0.08219	T	-0.492128	0.23168	T	0.154887735843658	0.17486	T	0.635136	0.25918	T	0.08007951	0.18330	0.14011258	0.33408	0.08007951	0.18329	0.14011258	0.33407	-4.471	0.30507	T	.	.	0.079	0.07083	B	.;.	.;.	1.883416	0.23925	16.20	0.87059721898140774	0.16960	0.14541	0.18457	N	AEFDBHCIJ	0.113593	0.22407	N	-0.699434764338372	0.16038	0.813623	-0.776473771230688	0.15072	0.79087	0.999999859777627	0.74766	0.766844	0.99359	0	0.606735	0.50208	0	0.851219	0.99655	0	0.691587	0.68394	0	.	.	4.38	-0.0138	0.13307	0.306000	0.19030	0.376000	0.17729	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.0:0.5125:0.1794:0.3081	3.932	0.08789	80	0.96670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	732.33	42	chr17	29572494	.	C	T	732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=0.838;SOR=0.839	GT:AD:DP:GQ:PL	0/1:21,25:46:99:746,0,537	18	0	1	0
chr17	29613563	29613563	T	G	exonic	ANKRD13B	.	nonsynonymous SNV	ANKRD13B:NM_152345:exon15:c.T1862G:p.L621R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.554577016455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.251e-06	2.052e-06	2.949e-06	1.528e-06	1.369e-05	6e-07	1.7e-07	3.2e-07	1.2e-07	0	0	0	0	0	0	1.906e-06	0	1.369e-05	6.573e-06	6.564e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.451	0.36091	B	0.169	0.35248	B	0.005962	0.32369	N	0.245812	0.999995	0.58761	D	3.29	0.90338	M	-0.62	0.71895	T	-4.36	0.76980	D	0.754	0.75283	-0.5169	0.68031	T	0.295	0.66650	T	10	0.752787	0.75760	D	0.554577	0.95908	D	0.358	0.67872	0.358	0.36060	0.84016665507	0.83863	0.879833016842829	0.87951	1.20472787136	0.80666	0.837296307087	0.87682	D	0.388447	0.74912	T	0.10284	0.64597	D	-0.0900536	0.64157	T	0.99480152130127	0.86326	D	0.865613	0.56501	D	0.63416845	0.74521	0.64362425	0.79170	0.63416845	0.74522	0.64362425	0.79171	-10.902	0.79118	D	.	.	0.686	0.72372	P	.;.	.;.	4.174413	0.62793	24.5	0.99010720224320381	0.50356	0.84894	0.43988	D	ALL	0.744699	0.68760	D	0.0474801884727228	0.44027	2.684296	0.0491362599193801	0.42030	2.535178	0.999999999999993	0.74766	0.789315	0.99827	0	0.468431	0.06638	2	0.768056	0.98339	0	0.765457	0.99879	0	.	.	5.0	2.7	0.31007	3.916000	0.56128	7.809000	0.69375	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1287:0.0722:0.0:0.7991	7.293	0.25550	82	0.96572	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	381.33	34	chr17	29613563	.	T	G	381.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.987;DP=648;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.322;SOR=0.976	GT:AD:DP:GQ:PL	0/1:20,18:38:99:395,0,402	18	0	1	0
chr17	30057685	30057685	C	T	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_001145053:exon13:c.C2207T:p.S736L,EFCAB5:NM_198529:exon13:c.C2375T:p.S792L	.	424	1092	4	2	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	8.4e-05	0.00998403	0.0066	0.0002	0.0003	0.0002	0	0.0001	0.0034	0.0473	0.0056403	872	154602	rs201339173	0.0028	0.0028	0.0015	0.0041	0.0452	0.0027	0.0027	0.0440	0.0435	5.98e-05	0.0001	0	2.522e-05	0	0.0017	2.431e-05	0.0028	0.0452	0.0015	0.0016	0.0008	0.0023	0.0459	0.0014	0.0013	0.0409	0.0390	9.626e-05	0	0.0001	0	0.0004	0	0	5.881e-05	0.0009	0.0459	0.287	0.16038	T	0.059	0.45961	T	0.949	0.53761	P	0.492	0.47401	P	.	.	.	.	1	0.28239	N	2.045	0.56016	M	1.85	0.24472	T	-1.77	0.41809	N	0.275	0.31140	-0.9755	0.36015	T	0.172	0.51452	T	9	0.0029473603	0.00048	T	.	.	.	0.024	0.04979	.	.	0.265010934533	0.26120	0.15888957594109943	0.15809	0.0956067096189	0.10801	0.337329655886	0.16038	T	0.003895	0.03302	T	-0.610246	0.00126	T	-0.616496	0.11462	T	0.0150041687778503	0.00322	T	0.723828	0.33737	T	0.10871488	0.25705	0.12541634	0.30219	0.10871488	0.25705	0.12541634	0.30218	-5.291	0.46588	T	.	.	0.119	0.24566	B	.;.	.;.	2.633597	0.34254	19.57	0.99564832329535147	0.72014	0.12950	0.17576	N	AEFBI	0.102232	0.20512	N	-0.219775241911185	0.32323	1.821654	-0.228833537186649	0.30509	1.718327	1.49411404941383E-4	0.05573	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.4	3.4	0.38031	1.268000	0.32665	1.044000	0.23581	0.599000	0.40250	0.113000	0.23048	0.000000	0.08366	0.886000	0.42526	0.0:0.8272:0.0:0.1728	9.425	0.37740	817	0.41665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	395.33	38	chr17	30057685	.	C	T	395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.02;DP=686;ExcessHet=0;FS=2.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=-1.616;SOR=0.368	GT:AD:DP:GQ:PL	0/1:28,19:47:99:409,0,774	18	0	1	0
chr17	32298112	32298112	A	G	exonic	RHBDL3	.	nonsynonymous SNV	RHBDL3:NM_001363834:exon4:c.A506G:p.N169S,RHBDL3:NM_001330181:exon5:c.A665G:p.N222S,RHBDL3:NM_001363835:exon6:c.A689G:p.N230S,RHBDL3:NM_001363836:exon6:c.A395G:p.N132S,RHBDL3:NM_138328:exon6:c.A689G:p.N230S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.0447127509306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.745	0.94976	H	0.82	0.48142	T	-4.53	0.78388	D	0.924	0.93018	-0.1166	0.79714	T	0.377	0.73498	T	10	0.88302743	0.87620	D	0.044713	0.61626	D	0.608	0.84613	0.735	0.86806	0.90478473441	0.90383	0.849686074121271	0.84930	0.78196987269	0.65341	0.676357984543	0.63747	T	0.246967	0.68992	T	0.0507462	0.58440	T	-0.164883	0.57910	T	0.996544595205984	0.89565	D	0.980402	0.93314	D	0.8987555	0.91271	0.8751377	0.93223	0.8987555	0.91273	0.8751377	0.93223	-10.294	0.78695	D	.	.	0.439	0.69456	A	.;.;.;.	.;.;.;.	4.239294	0.64256	24.7	0.99895967545441078	0.96895	0.95319	0.64259	D	AEFDBCI	0.934880	0.92890	D	0.92077709813772	0.92739	11.60026	0.870530038808442	0.94155	12.546	0.999999267614062	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	5.72	5.72	0.89380	8.591000	0.90611	11.092000	0.85948	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.009	0.80182	968	0.07033	Peptidase S54, rhomboid domain;Peptidase S54, rhomboid 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	1491.33	33	chr17	32298112	.	A	G	1491.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.719;DP=766;ExcessHet=0;FS=3.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.42;SOR=0.517	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1505,0,1597	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	0/1:81,46:127:99:268,0,1238	1	0	18	0
chr17	37744683	37744683	C	G	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon1:c.G202C:p.G68R,HNF1B:NM_001165923:exon1:c.G202C:p.G68R,HNF1B:NM_001304286:exon1:c.G202C:p.G68R	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	961108	Maturity_onset_diabetes_mellitus_in_young|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.931	0.877104371001	.	.	4.173e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs767576616	2.806e-05	2.805e-05	5.448e-06	5.09e-05	0.0004	2.088e-05	1.879e-05	0.0003	0.0003	0	0	0	0	0	0	2.698e-06	0	0.0004	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.009	0.74150	D	0.999	0.77913	D	0.982	0.75477	D	0.000000	0.84330	N	0.093169	1	0.81001	D	2.67	0.78151	M	.	.	.	.	.	.	0.841	0.92433	1.100	0.99649	D	0.972	0.99125	D	10	0.982064	0.98264	D	0.877104	0.99062	D	.	.	0.888	0.97226	0.890163816405	0.88907	0.8528664119043652	0.85248	.	.	0.783907949924	0.79519	T	0.970786	0.99680	D	0.15322	0.69569	D	0.30428	0.88393	D	0.651968727822185	0.38547	D	.	.	.	0.6263831	0.74105	0.51397586	0.71917	0.6263831	0.74106	0.51397586	0.71917	-9.369	0.70041	D	.	.	0.863	0.83824	P	.;.;.;.;.;.	.;.;.;.;.;.	5.693685	0.93073	33	0.99920259123044219	0.98721	0.98318	0.81579	D	ALL	0.908618	0.86416	D	0.767990054790617	0.84072	8.186342	0.735170731382176	0.85045	8.465036	0.999999999999847	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.13	5.13	0.69729	4.687000	0.61396	7.698000	0.66136	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.737	0.88304	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	.	.	.	.	.	.	.	.	0.02632	1829.33	39	chr17	37744683	.	C	G	1829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.241;DP=768;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.926;SOR=0.614	GT:AD:DP:GQ:PL	0/1:65,77:142:99:1843,0,1475	18	0	1	0
chr17	38479767	38479767	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon14:c.C2513T:p.P838L	.	402	898	221	1	0	223	0.110451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00849835012686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179139464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.43531	T	0.288	0.36312	B	0.122	0.33328	B	0.007798	0.31194	N	0.339007	0.999976	0.54805	D	1.39	0.34934	L	.	.	.	.	.	.	0.135	0.13198	-1.0637	0.10855	T	0.029	0.12585	T	10	0.114997685	0.21652	T	0.008498	0.22482	T	.	.	.	.	0.548654159409	0.54520	0.28172159854278217	0.28085	.	.	0.641096115112	0.58720	T	0.005151	0.04592	T	-0.0195816	0.48914	T	-0.265904	0.48233	T	0.528647541999817	0.33684	D	.	.	.	0.1456844	0.33383	0.13910079	0.33200	0.1456844	0.33383	0.13910079	0.33199	-9.479	0.70728	D	.	.	0.062	0.08176	B	.;.	.;.	4.028711	0.59562	24.1	0.98714625169202608	0.45113	0.96355	0.68733	D	AEFBI	0.398704	0.47428	N	0.0482024911508484	0.44059	2.686984	0.198608916344503	0.49770	3.17639	0.838475277280199	0.24822	0.67177	0.52595	0	0.588066	0.40923	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.88	4.88	0.63131	1.707000	0.37507	4.883000	0.45686	0.598000	0.34611	0.428000	0.26393	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.409	0.60378	127	0.94899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	40.46	34	chr17	38479767	.	C	T	40.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.066;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.0348;MLEAC=1;MLEAF=0.026;MQ=49.4;MQRankSum=-2.453;QD=0.84;ReadPosRankSum=-2.284;SOR=0.628	GT:AD:DP:GQ:PL	0/1:40,8:48:54:54,0,1117	18	0	1	0
chr17	39217966	39217966	G	A	exonic	STAC2	.	nonsynonymous SNV	STAC2:NM_198993:exon2:c.C298T:p.R100C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.063628044946	.	0.000599042	0.0015	0	0.0002	0	0	0	0	0.0079	0.0006339	98	154602	rs555370172	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0059	0	0	0	5.164e-05	0	0.0002	1.27e-05	0.0002	0.0065	0.0002	0.0002	2.571e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.058	0.37750	T	0.105	0.38016	T	0.009	0.15093	B	0.002	0.06944	B	0.022280	0.26667	N	0.338008	0.998152	0.22321	N	1.5	0.37844	L	-1.77	0.83660	D	-2.4	0.52776	N	0.296	0.33469	-0.7219	0.59369	T	0.296	0.66726	T	10	0.0058431625	0.00130	T	0.063628	0.69028	D	0.175	0.44197	.	.	0.823794105912	0.82213	0.33218259356116553	0.33131	0.165913380943	0.18718	0.69803237915	0.66861	T	0.074051	0.34845	T	-0.359954	0.04132	T	-0.287491	0.46033	T	0.0343337784271187	0.02694	T	0.761624	0.38671	T	0.08357313	0.19305	0.07155777	0.15336	0.08357313	0.19305	0.07155777	0.15336	-6.015	0.46406	T	0.25849390308799913	0.34925	0.087	0.11269	B	.	.	2.485045	0.32052	18.93	0.89927693436292078	0.19226	0.87424	0.46959	D	AEFDBI	0.553306	0.56461	D	-0.535337421554478	0.20945	1.107977	-0.4231933383439	0.24318	1.331012	0.999986637473194	0.51787	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.530356	0.10902	0	.	.	5.4	4.44	0.53164	3.374000	0.52132	2.307000	0.32053	0.610000	0.48991	0.831000	0.30147	0.093000	0.22564	0.006000	0.07323	0.079:0.0:0.921:0.0	13.096	0.58605	591	0.68823	.	.	.	.	.	.	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	0.002039	0.000000	0.001362	0.002941	0.000000	0.000000	0.003165	0.003788	0.02632	1349.33	33	chr17	39217966	.	G	A	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=745;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.099;SOR=0.815	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1363,0,1167	18	0	1	0
chr17	39868385	39868385	G	A	exonic	ZPBP2	.	nonsynonymous SNV	ZPBP2:NM_198844:exon1:c.G31A:p.V11M,ZPBP2:NM_199321:exon1:c.G31A:p.V11M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0554410582052	.	.	0.0004	0	0	0	0	1.502e-05	0	0.0026	0.0002846	44	154602	rs775450115	0.0001	0.0001	6.689e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	8.993e-07	8.282e-05	0.0022	8.537e-05	8.53e-05	0	0.0002	0.0027	4.954e-05	3.961e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	0.102	0.91255	T	0.0	0.92824	D	0.451	0.77913	B	0.086	0.88582	B	0.004215	0.33991	N	0.132059	0.932554	0.27018	N	1.83	0.48079	L	0.6	0.70365	T	-0.52	0.24898	N	0.309	0.40164	-0.7831	0.56127	T	0.270	0.64193	T	10	0.014801592	0.00311	T	0.055441	0.66237	D	0.057	0.16321	0.271	0.22052	0.184867976434	0.18130	0.31749326520674054	0.31662	0.265036984086	0.29058	0.553974330425	0.46417	T	0.063147	0.32101	T	-0.359888	0.04136	T	-0.295588	0.45189	T	0.158933799867347	0.17792	T	0.760524	0.38496	T	0.06535249	0.13958	0.1292258	0.31075	0.06535249	0.13957	0.1292258	0.31074	-5.789	0.44478	T	.	.	0.153	0.45918	B	.;.;.;.	.;.;.;.	3.364362	0.46465	22.3	0.89042284740204236	0.18463	0.70790	0.34737	D	ALL	0.280011	0.39393	N	0.149964543205879	0.48810	3.088763	0.0916645889324548	0.44129	2.700611	0.999999717600512	0.74766	0.446893	0.09132	0	0.405561	0.06353	1	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.03	3.06	0.34374	2.629000	0.46152	4.730000	0.44549	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.371000	0.26133	0.1146:0.0:0.8854:0.0	7.621	0.27353	666	0.61362	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	chr17	39868385	.	G	A	807.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=740;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.837;SOR=0.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,30:61:99:0|1:39868373_C_T:821,0,878:39868373	18	0	1	0
chr17	39944558	39944558	C	T	exonic	LRRC3C	.	nonsynonymous SNV	LRRC3C:NM_001195545:exon2:c.C652T:p.R218W	.	412	1102	8	0	0	8	0.00361664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	.	.	0.00119808	0.0135	0.0042	0.0132	0	0	0.0018	0.0172	0.0203	0.0005886	91	154602	rs532269168	0.0006	0.0006	0.0004	0.0009	0.0087	0.0006	0.0006	0.0082	0.0080	3.175e-05	0.0004	0	2.802e-05	0	0.0027	0.0001	0.0008	0.0087	0.0004	0.0004	0.0003	0.0006	0.0073	0.0004	0.0003	0.0054	0.0047	0.0002	0	0.0005	0	0.0002	0	0	0.0002	0.0010	0.0073	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	0.152015	0.17936	N	0.547535	0.992135	0.23930	N	1.735	0.44892	L	0.11	0.61208	T	-4.35	0.76900	D	0.244	0.27554	-0.7661	0.57071	T	0.231	0.59645	T	8	0.0099110305	0.00222	T	.	.	.	0.279	0.59619	.	.	0.587207757887	0.58394	0.47978731628785903	0.47898	.	.	0.275955766439	0.06934	T	0.186791	0.54019	T	-0.403318	0.02202	T	-0.346847	0.39567	T	0.0801751158628093	0.10009	T	0.80472	0.45238	T	0.21243206	0.43595	0.22894807	0.47951	0.21243206	0.43595	0.22894807	0.47950	-5.268	0.39625	T	.	.	0.089	0.12323	B	.	.	4.060583	0.60260	24.2	0.99667031453948318	0.78330	0.96888	0.71487	D	AEFDBI	0.745527	0.68817	D	0.217311846703359	0.52039	3.380619	0.213137149094698	0.50577	3.248157	0.0378191768548267	0.14316	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.65	4.65	0.57626	3.882000	0.55873	3.251000	0.37027	0.596000	0.33519	1.000000	0.71638	0.962000	0.29361	0.761000	0.36181	0.3241:0.6759:0.0:0.0	10.620	0.44666	486	0.77016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005703	0.000000	0.009804	0.004950	0.000000	0.000000	0.009804	0.007937	0.02632	1555.33	39	chr17	39944558	.	C	T	1555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=805;ExcessHet=0;FS=6.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.947;SOR=0.442	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1569,0,1120	18	0	1	0
chr17	40260575	40260575	G	A	exonic	WIPF2	.	nonsynonymous SNV	WIPF2:NM_133264:exon3:c.G104A:p.R35Q	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0110297606845	0.0046	0.00199681	0.0039	0.0009	0.0016	0	0.0047	0.0055	0.0055	0.0024	0.003965	613	154602	rs142659099	0.0059	0.0059	0.0061	0.0058	0.0070	0.0058	0.0058	0.0069	0.0068	0.0007	0.0024	0.0011	0	0.0045	0.0021	0.0070	0.0046	0.0023	0.0047	0.0047	0.0043	0.0052	0.0076	0.0044	0.0043	0.0066	0.0064	0.0013	0	0.0076	0.0017	0	0.0036	0	0.0071	0.0052	0.0021	0.036	0.43393	D	0.437	0.17372	T	0.985	0.61118	D	0.353	0.42910	B	0.000005	0.62929	D	0.065269	0.876926	0.81001	D	0.48	0.13178	N	1.6	0.42122	T	-0.89	0.24026	N	0.415	0.45898	-1.0545	0.13172	T	0.049	0.20711	T	10	0.006891489	0.00156	T	0.01103	0.28229	T	0.100	0.28662	.	.	0.606518698375	0.60336	0.12277854967486175	0.12203	0.180845980891	0.20341	0.568528354168	0.48469	T	0.093076	0.41034	T	-0.445648	0.01198	T	-0.409472	0.32285	T	0.0200212243466887	0.00703	T	0.855114	0.67884	D	0.14469379	0.33202	0.098769486	0.23560	0.14469379	0.33202	0.098769486	0.23559	-9.422	0.70373	D	.	.	0.120	0.34949	B	.;.;.;.;.	.;.;.;.;.	4.462703	0.69472	25.4	0.99919146978404716	0.98654	0.93898	0.59511	D	AEFDBI	0.669587	0.63697	D	0.334606572018892	0.57931	3.962755	0.46890795729196	0.65940	4.887692	0.985187444177392	0.30843	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.385000	0.65981	11.855000	0.98181	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0727:0.0:0.9273:0.0	13.160	0.58961	378	0.83833	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1490.33	33	chr17	40260575	.	G	A	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=734;ExcessHet=0;FS=2.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.774;SOR=0.434	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1504,0,1030	18	0	1	0
chr17	41123818	41123818	C	T	exonic	KRTAP4-12	.	nonsynonymous SNV	KRTAP4-12:NM_031854:exon1:c.G305A:p.R102H	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0034	0.00119808	0.0050	0.0004	0.0007	0	0.0208	0.0064	0.0079	0.0015	0.0040232	622	154602	rs200657918	0.0020	0.0020	0.0018	0.0021	0.0015	0.0019	0.0019	0.0014	0.0014	0	0.0008	0.0072	5.04e-05	0.0157	0	0.0015	0.0016	0.0010	0.0042	0.0046	0.0038	0.0047	0.0052	0.0039	0.0038	0.0048	0.0046	0.0005	0.0011	0.0024	0.0125	0	0.0165	0.0034	0.0052	0.0019	0.0011	0.08	0.33585	T	0.076	0.42614	T	0.001	0.07471	B	0.0	0.01387	B	0.645414	0.05891	U	1.263490	1	0.08975	N	2.995	0.85803	M	6.35	0.00549	T	-3.21	0.64826	D	0.067	0.03956	-0.9611	0.38974	T	0.003	0.00897	T	10	0.0074228644	0.00169	T	.	.	.	0.036	0.09122	.	.	0.465138348474	0.46142	0.07038911407437455	0.06975	0.0381829246423	0.04056	0.182914882898	0.00124	T	0.167722	0.51445	T	-0.65578	0.00067	T	-0.708644	0.05365	T	0.0619028380291112	0.07465	T	.	.	.	0.04194584	0.06271	0.08594223	0.19877	0.04194584	0.06271	0.08594223	0.19877	-10.749	0.78263	D	.	.	0.173	0.38025	B	.	.	-0.284855	0.02684	0.347	0.72841220925853634	0.10115	0.00856	0.03410	N	AEFBI	0.022926	0.01208	N	-1.35030861555699	0.03122	0.1389388	-1.53119175813612	0.02108	0.09646297	0.0211054300738595	0.13320	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.29	-4.59	0.03158	-2.124000	0.01405	-14.222000	0.00415	-2.740000	0.00200	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1645:0.4861:0.0:0.3494	3.848	0.08453	259	0.89842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	5473.83	35	chr17	41123818	.	C	T	5473.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.12;DP=1249;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.45;MQRankSum=0.754;QD=9.97;ReadPosRankSum=0.873;SOR=0.711	GT:AD:DP:GQ:PL	0/1:103,75:178:99:1758,0,2441	17	0	2	0
chr17	41308185	41308185	G	T	exonic	KRTAP16-1	.	nonsynonymous SNV	KRTAP16-1:NM_001146182:exon1:c.C1069A:p.L357I	.	425	986	104	6	1	117	0.0555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0050	0	0.0034	0	0.0172	0.0079	0.0097	0.0012	0.0007956	123	154602	rs72828116	0.0029	0.0028	0.0028	0.0030	0.0023	0.0028	0.0028	0.0023	0.0022	9.494e-05	0.0006	0.0110	0	0.0189	0.0002	0.0023	0.0023	0.0019	0.0043	0.0043	0.0038	0.0048	0.0043	0.0040	0.0039	0.0039	0.0037	0.0003	0.0813	0.0018	0.0104	0	0.0193	0	0.0043	0.0014	0.0015	0.473	0.08408	T	0.459	0.12632	T	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	1.455	0.36767	L	5.6	0.00825	T	-0.44	0.14588	N	0.184	0.19995	-0.8581	0.51398	T	0.003	0.00994	T	7	0.0025836527	0.00039	T	.	.	.	0.057	0.16321	.	.	0.0666544352282	0.05500	0.03178503481303741	0.03127	.	.	0.27059918642	0.06219	T	0.005546	0.05002	T	-0.67399	0.00052	T	-0.734235	0.04138	T	0.0225514295463408	0.00971	T	.	.	.	0.038495883	0.05140	0.038298864	0.03669	0.038495883	0.05140	0.038298864	0.03668	-2.846	0.08615	T	.	.	0.084	0.09772	B	.	.	0.804710	0.11755	8.330	0.76621386020564053	0.11542	0.75406	0.36918	D	AEFDGBIJ	0.125373	0.24185	N	-0.268960087564811	0.30354	1.691699	-0.275904001523394	0.28893	1.614572	0.999980917761901	0.51787	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.82	2.76	0.31527	0.947000	0.28680	2.594000	0.33484	0.618000	0.50648	0.050000	0.21411	0.210000	0.23636	0.334000	0.25294	0.0943:0.3648:0.5409:0.0	6.864	0.23264	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7317.7	169	chr17	41308185	.	G	T	7317.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.285;DP=1282;ExcessHet=0.7564;FS=3.232;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.042;SOR=0.492	GT:AD:DP:GQ:PL	0/1:79,77:156:99:1957,0,2174	18	0	1	0
chr17	41487406	41487406	T	A	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon5:c.A932T:p.E311V	.	411	1064	45	2	0	49	0.022508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs139865124	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0015	0.0038	2.519e-05	3.747e-05	0.0346	0.0006	0.0028	0.0115	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000097	0.51296	D	0.000000	0.999452	0.47118	D	3.995	0.96723	H	-2.83	0.91249	D	-6.56	0.91868	D	0.43	0.46928	1.054	0.98202	D	0.904	0.96822	D	10	0.012003839	0.00260	T	.	.	.	0.826	0.94466	.	.	0.922751822367	0.92196	0.5184686235104664	0.51769	0.841499628606	0.68094	0.47562456131	0.35455	T	0.584972	0.86467	D	0.123324	0.66705	D	0.413765	0.92547	D	0.155424858219359	0.17527	T	0.817618	0.47476	T	0.8597732	0.88068	0.89466405	0.94597	0.8597732	0.88069	0.89466405	0.94598	-11.675	0.83232	D	.	.	0.557	0.67081	A	.;.	.;.	4.570543	0.72107	25.8	0.99565129901665927	0.72014	0.94864	0.62595	D	AEFDGBCI	0.765615	0.70205	D	0.920670767402718	0.92734	11.59737	0.843328895874802	0.92620	11.53265	0.999899793254436	0.45129	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	3.203000	0.50777	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:0.0:1.0	16.407	0.83516	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.02632	4666.33	43	chr17	41487406	.	T	A	4666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.191;DP=919;ExcessHet=0;FS=1.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=-0.735;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,118:192:99:0|1:41487406_T_A:4680,0,2745:41487406	18	0	1	0
chr17	41487407	41487407	C	A	exonic	KRT36	.	stopgain	KRT36:NM_003771:exon5:c.G931T:p.E311X	.	411	1063	46	2	0	50	0.0229779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs145372311	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0016	0.0038	2.519e-05	3.748e-05	0.0346	0.0006	0.0028	0.0116	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.000097	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.136	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237408	0.77415	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.308796	0.99688	46	0.9978149732722128	0.86780	0.97345	0.74163	D	AEFDGBCI	0.278041	0.39242	N	1.22290231108648	0.99733	25.95499	1.09354310977779	0.99756	26.34876	0.999999598163311	0.74766	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	5.814000	0.68884	7.566000	0.60594	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.938000	0.47775	0.0:1.0:0.0:0.0	20.378	0.98924	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.02632	4666.33	43	chr17	41487407	.	C	A	4666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.497;DP=919;ExcessHet=0;FS=1.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=-0.392;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,118:192:99:0|1:41487406_T_A:4680,0,2745:41487406	18	0	1	0
chr17	42610492	42610492	C	T	exonic	TUBG1	.	nonsynonymous SNV	TUBG1:NM_001070:exon3:c.C232T:p.L78F	Cortical dysplasia, complex, with other brain malformations 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.037568502302	.	.	8.365e-06	0	0	0	0	0	0	6.065e-05	3.84e-05	1	26028	rs749432201	6.843e-07	6.841e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.032	0.53426	D	0.808	0.45299	P	0.237	0.38508	B	0.000482	0.43931	U	0.097095	1	0.81001	D	2.56	0.74772	M	-0.42	0.69536	T	-1.54	0.37375	N	0.495	0.52829	-0.3054	0.74834	T	0.323	0.69151	T	10	0.36737794	0.53208	T	0.037569	0.57695	D	0.361	0.68141	0.584	0.71118	0.591792501908	0.58856	0.9072224063103507	0.90695	1.92046280059	0.92997	0.767815828323	0.77097	T	0.452831	0.79301	T	0.0284256	0.55514	T	-0.196945	0.54936	T	0.556472301483154	0.34721	D	0.90081	0.65538	D	0.41765204	0.61935	0.3236232	0.58292	0.41765204	0.61936	0.3236232	0.58291	-7.948	0.60715	D	0.4444902347916471	0.52941	0.402	0.64201	A	.;.	.;.	4.662491	0.74439	26.2	0.99802418075158128	0.88728	0.87677	0.47297	D	AEFGBHCI	0.575169	0.57766	D	0.530394806728249	0.68895	5.280742	0.588104777748995	0.74085	6.077541	0.999999999995999	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.84	5.84	0.93373	3.343000	0.51884	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.203	0.98271	327	0.86637	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4099.33	37	chr17	42610492	.	C	T	4099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=1126;ExcessHet=0;FS=6.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.53;MQRankSum=0.315;QD=11.81;ReadPosRankSum=0.162;SOR=1.04	GT:AD:DP:GQ:PL	0/1:195,152:347:99:4113,0,5241	18	0	1	0
chr17	42955903	42955903	G	A	exonic	AARSD1;PTGES3L-AARSD1	.	nonsynonymous SNV	AARSD1:NM_001261434:exon7:c.C733T:p.R245W,PTGES3L-AARSD1:NM_001136042:exon12:c.C1255T:p.R419W,PTGES3L-AARSD1:NM_025267:exon12:c.C1072T:p.R358W	.	431	1084	4	3	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0375016706228	0.0002	0.00179712	0.0007	0	0.0003	0.0001	0	0.0002	0.0011	0.0044	0.0006921	107	154602	rs201941576	0.0004	0.0004	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0040	0	0.0002	0.0002	0.0001	0	0.0007	0.0001	0.0003	0.0045	0.0002	0.0003	0.0001	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	2.41e-05	0	6.555e-05	0	0.0004	0	0	7.352e-05	0.0005	0.0058	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	.	.	.	2.765	0.80766	M	0.61	0.53516	T	-7.9	0.96191	D	0.93	0.93487	-0.0788	0.80580	T	0.359	0.72085	T	9	0.013238043	0.00327	T	0.037502	0.57658	D	0.620	0.85249	.	.	0.609617904835	0.60648	0.8886518496027869	0.88834	0.560045054504	0.52543	0.676551043987	0.63775	T	0.456132	0.81514	T	-0.0255131	0.48064	T	0.191254	0.82641	D	0.240474779046427	0.22441	T	0.981802	0.93846	D	0.876221	0.89359	0.7562106	0.85593	0.876221	0.89360	0.7562106	0.85594	-12.969	0.89235	D	.	.	0.811	0.80930	P	.;.;.;.;.;.	.;.;.;.;.;.	5.813787	0.93668	33	0.99910077620948867	0.97949	0.96369	0.68801	D	AEFBI	0.716616	0.66840	D	0.787719075141611	0.85331	8.544284	0.728956460164553	0.84577	8.331002	0.0189072500312813	0.13108	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	2.446000	0.44566	9.652000	0.81173	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.7381:0.2619	13.473	0.60743	196	0.92420	Alanyl-tRNA synthetase, class IIc, core domain;.;.;.;Alanyl-tRNA synthetase, class IIc, core domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1767.33	42	chr17	42955903	.	G	A	1767.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.998;DP=773;ExcessHet=0;FS=3.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.803;SOR=0.604	GT:AD:DP:GQ:PL	0/1:56,75:131:99:1781,0,1287	18	0	1	0
chr17	47848309	47848309	C	T	exonic	SP6	.	nonsynonymous SNV	SP6:NM_001258248:exon2:c.G121A:p.G41R,SP6:NM_199262:exon2:c.G121A:p.G41R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0224931432112	.	.	1.109e-05	0	0	0	0	0	0	7.24e-05	6.5e-06	1	154602	rs780881543	1.302e-05	1.3e-05	1.091e-05	1.515e-05	0.0002	8.33e-06	6.71e-06	0.0001	0.0001	0	0	0	0	0	0	0	3.325e-05	0.0002	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.012	0.63918	D	0.29	0.32311	B	0.051	0.25434	B	0.000443	0.44317	D	0.000000	0.647544	0.32933	D	0.55	0.14455	N	2.99	0.09262	T	-2.15	0.48687	N	0.179	0.19325	-1.0097	0.27012	T	0.015	0.05849	T	10	0.08911851	0.15409	T	0.022493	0.45384	T	0.178	0.44724	0.092	0.01108	0.407901774203	0.40404	0.26820965232186667	0.26733	2.01184860429	0.93918	0.814235806465	0.84143	D	0.212142	0.57310	T	-0.0770696	0.40189	T	-0.111813	0.62467	T	0.659163475036621	0.38859	D	0.733627	0.34942	T	0.22244808	0.44844	0.54185677	0.73521	0.22244808	0.44844	0.54185677	0.73522	-4.415	0.29759	T	.	.	0.313	0.54004	B	.;.	.;.	5.000748	0.82969	27.9	0.99809649626080621	0.89353	0.62982	0.31948	D	AEFDBCI	0.125209	0.24161	N	-0.181597209101038	0.33901	1.928709	-0.00652089735995265	0.39420	2.336992	0.999918700928394	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	4.44	4.44	0.53164	-0.424000	0.07093	7.614000	0.62028	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.994000	0.71098	0.0:0.8238:0.1762:0.0	11.943	0.52196	324	0.86790	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	38	chr17	47848309	.	C	T	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.131;SOR=0.709	GT:AD:DP:GQ:PL	0/1:35,26:61:99:699,0,779	18	0	1	0
chr17	47974009	47974009	G	T	exonic	CDK5RAP3	.	nonsynonymous SNV	CDK5RAP3:NM_001278197:exon4:c.G338T:p.R113L,CDK5RAP3:NM_176096:exon4:c.G263T:p.R88L	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	.	0.0105831	0.0050	0.0002	0.0003	0	0	5.995e-05	0.0044	0.0360	0.0044631	690	154602	rs201973580	0.0021	0.0021	0.0012	0.0031	0.0339	0.0021	0.0020	0.0328	0.0324	0.0001	2.236e-05	0	2.519e-05	0	0.0021	2.519e-05	0.0021	0.0339	0.0013	0.0013	0.0007	0.0020	0.0414	0.0012	0.0011	0.0367	0.0349	7.215e-05	0	0	0	0	0	0	0	0	0.0414	0.004	0.65419	D	0.167	0.30729	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.335	0.90898	M	0.76	0.49919	T	-5.21	0.83763	D	0.919	0.92317	-0.3884	0.72392	T	0.332	0.69927	T	10	0.014095038	0.00297	T	.	.	.	0.536	0.80545	.	.	0.824481828275	0.82282	0.555698876831675	0.55496	0.533885050813	0.50818	0.693994045258	0.66279	T	0.148647	0.48729	T	-0.0271763	0.47826	T	0.213949	0.83868	D	0.182294480565301	0.19379	T	0.961004	0.92360	D	0.604937	0.72956	0.45090437	0.68049	0.604937	0.72957	0.45090437	0.68049	-6.093	0.51372	T	.	.	0.696	0.73696	P	.;.;.;.;.	.;.;.;.;.	5.428779	0.90793	31	0.99851110760734285	0.93013	0.99310	0.94309	D	AEFDBI	0.920314	0.89212	D	0.796813600121588	0.85907	8.718294	0.725394114312064	0.84305	8.255621	0.99999999227298	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	4.56	0.55644	9.389000	0.96610	9.923000	0.82520	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0786:0.0:0.9214:0.0	13.141	0.58851	706	0.57215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.015152	0.02632	883.33	33	chr17	47974009	.	G	T	883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.503;DP=713;ExcessHet=0;FS=0.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.884;SOR=0.859	GT:AD:DP:GQ:PL	0/1:43,40:83:99:897,0,999	18	0	1	0
chr17	50076612	50076614	ACA	-	exonic	ITGA3	.	nonframeshift deletion	ITGA3:NM_002204:exon14:c.1853_1855del:p.N619del	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.718e-05	0	0	0	0	0.0013	0.0001423	22	154602	rs748334676	6.569e-05	6.635e-05	2.587e-05	0.0001	0.0011	5.497e-05	5.109e-05	0.0009	0.0008	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0011	3.286e-05	3.283e-05	2.57e-05	4.035e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2052.29	41	chr17	50076611	.	GACA	G	2052.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.14;DP=816;ExcessHet=0;FS=5.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.026;SOR=1.064	GT:AD:DP:GQ:PL	0/1:67,54:121:99:2066,0,2649	18	0	1	0
chr17	54949592	54949597	GAGTCT	-	exonic	TOM1L1	.	nonframeshift deletion	TOM1L1:NM_001321174:exon11:c.1026_1031del:p.S343_L344del,TOM1L1:NM_005486:exon13:c.1257_1262del:p.S420_L421del,TOM1L1:NM_001321175:exon14:c.1026_1031del:p.S343_L344del,TOM1L1:NM_001321176:exon14:c.1026_1031del:p.S343_L344del	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00938498	0.0059	0	0.0002	0	0	1.502e-05	0.0022	0.0430	0.0001537	4	26028	rs574392654	0.0025	0.0025	0.0015	0.0035	0.0388	0.0024	0.0024	0.0377	0.0373	8.963e-05	4.472e-05	3.827e-05	0.0001	1.872e-05	0.0026	1.259e-05	0.0033	0.0388	0.0015	0.0015	0.0008	0.0022	0.0452	0.0013	0.0013	0.0403	0.0384	7.218e-05	0	6.534e-05	0	0	0	0	0	0.0009	0.0452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2736.29	35	chr17	54949591	.	AGAGTCT	A	2736.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.669;DP=841;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-0.252;SOR=0.6	GT:AD:DP:GQ:PL	0/1:91,72:163:99:2750,0,3604	18	0	1	0
chr17	58980672	58980672	G	A	exonic	PPM1E	.	nonsynonymous SNV	PPM1E:NM_014906:exon7:c.G1909A:p.E637K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00554851837144	7.7e-05	.	9.062e-05	0	0.0002	0	0	4.497e-05	0.0011	0.0003	7.76e-05	12	154602	rs377209500	7.593e-05	7.593e-05	7.078e-05	8.113e-05	0.0005	6.423e-05	6.004e-05	0.0004	0.0003	0	0.0002	0.0001	0	0	0.0002	4.137e-05	0.0001	0.0005	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.099	0.30656	T	1.0	0.01155	T	.	.	.	.	.	.	0.310133	0.14448	N	0.701721	0.997797	0.22503	N	.	.	.	2.3	0.16953	T	-0.06	0.07882	N	0.238	0.26837	-1.0096	0.27043	T	0.024	0.10148	T	10	0.048874974	0.04399	T	0.005549	0.14319	T	0.037	0.09474	.	.	0.043077524339	0.03247	0.2861528144703166	0.28528	0.0878000191581	0.09913	0.32395657897	0.14020	T	.	.	.	-0.489946	0.00650	T	-0.619583	0.11218	T	0.0231942180544138	0.01046	T	0.610139	0.23115	T	0.04711919	0.08001	0.06604532	0.13472	0.04711919	0.08001	0.06604532	0.13472	-3.6	0.17857	T	.	.	0.066	0.02285	B	.	.	2.238446	0.28578	17.84	0.98673580797824523	0.44512	0.61764	0.31580	D	AEFBCI	0.044968	0.07300	N	-0.546504967920779	0.20592	1.086753	-0.324077246156903	0.27323	1.515323	0.00825328097892678	0.11641	0.615465	0.37627	0	0.573078	0.20572	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.58	4.6	0.56512	2.004000	0.40474	3.390000	0.38061	-1.172000	0.01398	1.000000	0.71638	1.000000	0.68203	0.700000	0.34141	0.1386:0.7173:0.1441:0.0	11.196	0.47939	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1454.33	33	chr17	58980672	.	G	A	1454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.734;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.993;SOR=0.756	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1468,0,1297	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:46,26:72:58:58,0,537	8	0	11	0
chr17	63477132	63477132	-	GCTGCC	exonic	ACE	.	nonframeshift insertion	ACE:NM_000789:exon1:c.38_39insGCTGCC:p.L18_L19insPL	Renal tubular dysgenesis, Autosomal recessive	0	222	3	1	0	5	0.0111359	.	.	.	346691	not_provided|Renal_tubular_dysgenesis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0197684	0.0601	0.0116	0.0208	0	0	0.0012	0.0323	0.0777	0.002445	378	154602	rs532691783	0.0055	0.0055	0.0045	0.0066	0.0466	0.0054	0.0054	0.0452	0.0446	0.0233	0.0026	0	0.0010	0.0005	0.0097	0.0028	0.0066	0.0466	0.0097	0.0098	0.0091	0.0105	0.0597	0.0093	0.0092	0.0541	0.0518	0.0204	0	0.0077	0	0.0035	0.0002	0.0103	0.0024	0.0186	0.0597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	771.29	35	chr17	63477132	.	T	TGCTGCC	771.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.579;DP=676;ExcessHet=0;FS=2.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=0.623;SOR=0.327	GT:AD:DP:GQ:PL	0/1:19,21:40:99:785,0,710	18	0	1	0
chr17	74560754	74560754	C	T	exonic	CD300H	.	nonsynonymous SNV	CD300H:NM_001324073:exon4:c.G553A:p.G185S	.	899	608	12	3	0	18	0.0145867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0009508	147	154602	rs138914131	0.0078	0.0041	0.0080	0.0076	0.0236	0.0075	0.0074	0.0192	0.0176	0.0018	0.0032	0.0078	0.0005	0.0258	0.0062	0.0067	0.0068	0.0236	0.0064	0.0064	0.0050	0.0078	0.0212	0.0060	0.0059	0.0179	0.0166	0.0009	0	0.0025	0.0078	0.0006	0.0311	0.0068	0.0062	0.0052	0.0212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1313.33	39	chr17	74560754	.	C	T	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.906;DP=859;ExcessHet=0;FS=1.393;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.689;SOR=0.549	GT:AD:DP:GQ:PL	0/1:76,57:133:99:1327,0,1756	18	0	1	0
chr17	74855020	74855020	G	A	exonic	GRIN2C	.	stopgain	GRIN2C:NM_000835:exon2:c.C73T:p.Q25X,GRIN2C:NM_001278553:exon2:c.C73T:p.Q25X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404720563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.384309	0.13345	N	0.662793	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.095	0.07535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573376	0.96669	D	0.585839	0.96613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.255548	0.97350	37	0.99723836864653448	0.82266	0.90963	0.52594	D	AEFBI	0.139234	0.26077	N	0.532535007123857	0.69025	5.298865	0.316481543562482	0.56508	3.814211	0.00591358887280385	0.11077	0.59774	0.34471	0	0.626922	0.53725	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.02	4.02	0.45968	0.929000	0.28445	9.485000	0.80887	0.668000	0.69082	0.062000	0.21832	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	13.705	0.62113	906	0.23090	.;.	.	.	.	.	.	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	1125.33	36	chr17	74855020	.	G	A	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.008;DP=789;ExcessHet=0;FS=1.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=3.15;SOR=0.976	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1139,0,1040	18	0	1	0
chr17	75892350	75892350	G	A	exonic	TRIM65	.	nonsynonymous SNV	TRIM65:NM_001256124:exon3:c.C661T:p.R221W,TRIM65:NM_173547:exon3:c.C661T:p.R221W	.	427	1042	53	0	0	53	0.0248011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0024	0.00359425	0.0064	0.0001	0.0028	0.0002	0.0002	0.0032	0.0117	0.0311	0.005291	818	154602	rs61755877	0.0035	0.0035	0.0025	0.0045	0.0307	0.0034	0.0034	0.0297	0.0293	0.0004	0.0023	0.0229	0.0001	1.906e-05	0.0225	0.0011	0.0056	0.0307	0.0024	0.0024	0.0020	0.0029	0.0290	0.0022	0.0021	0.0251	0.0236	0.0004	0.0011	0.0026	0.0207	0.0002	0	0.0068	0.0013	0.0028	0.0290	0.016	0.51853	D	0.015	0.61642	D	0.998	0.73220	D	0.613	0.51171	P	0.173909	0.03132	N	1.724360	1	0.08975	N	1.87	0.49600	L	0.36	0.57880	T	-3.67	0.70191	D	0.259	0.29313	-0.8487	0.52058	T	0.138	0.45526	T	10	0.00396809	0.00076	T	.	.	.	0.155	0.40530	.	.	0.739974470535	0.73764	0.2111008556687348	0.21026	0.483196287518	0.47276	0.191761597991	0.00258	T	0.055148	0.29924	T	-0.455149	0.01053	T	-0.403569	0.32970	T	0.0366843157272724	0.03100	T	0.832017	0.49964	T	0.08446091	0.19549	0.06466375	0.12992	0.08446091	0.19549	0.06466375	0.12991	-7.779	0.59554	D	.	.	0.101	0.17742	B	.	.	2.832073	0.37339	20.5	0.99794347351836044	0.88017	0.17820	0.20001	N	AEFBCI	0.127836	0.24537	N	-0.449269725839586	0.23765	1.278494	-0.573457599988271	0.20186	1.086438	0.999962415006191	0.48965	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.23	3.23	0.36150	1.424000	0.34456	1.653000	0.27856	0.676000	0.76740	0.005000	0.17040	0.004000	0.18990	0.008000	0.08271	0.0:0.0:0.6719:0.3281	11.729	0.50995	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.010101	0.020380	0.011696	0.000000	0.017241	0.012195	0.034091	0.02632	1173.33	37	chr17	75892350	.	G	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.517;DP=827;ExcessHet=0;FS=3.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.337;SOR=1.086	GT:AD:DP:GQ:PL	0/1:30,42:72:99:1187,0,712	18	0	1	0
chr17	76279089	76279089	C	T	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon14:c.G4370A:p.R1457H	.	417	1098	7	0	0	7	0.00317749	.	.	.	2808412	not_provided|QRICH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.216	.	0.0002	0.00459265	0.0027	0.0006	0.0002	0.0008	0	0	0.0012	0.0183	0.0022186	343	154602	rs200114137	0.0012	0.0012	0.0006	0.0017	0.0183	0.0011	0.0011	0.0176	0.0173	0.0006	8.946e-05	0	0.0002	0	0.0009	2.608e-05	0.0014	0.0183	0.0008	0.0008	0.0004	0.0012	0.0217	0.0007	0.0007	0.0184	0.0171	0.0004	0	0	0	0.0006	0	0.0034	1.47e-05	0	0.0217	0.001	0.78490	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.960486	0.38183	D	2.625	0.76847	M	2.57	0.13552	T	-4.28	0.76334	D	0.444	0.48227	-0.9632	0.38567	T	0.120	0.41865	T	9	0.008320928	0.00189	T	.	.	.	0.216	0.50959	.	.	0.253726318573	0.24972	0.6005369794552415	0.59984	0.680876912155	0.60020	0.370040714741	0.20837	T	0.087359	0.37925	T	-0.292594	0.09376	T	-0.178787	0.56635	T	0.0866588075609747	0.10817	T	0.854015	0.53996	D	0.34820002	0.56926	0.40773153	0.65110	0.3414808	0.56397	0.37275136	0.62477	-8.45	0.64097	D	.	.	0.186	0.48978	B	.;.	.;.	4.362296	0.67097	25.0	0.9991172259955855	0.98095	0.64056	0.32284	D	AEFDBI	0.236402	0.35886	N	0.659316130212472	0.76972	6.586092	0.596060072539662	0.74656	6.174467	0.99999999993783	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.528226	0.09195	0	.	.	5.44	5.44	0.79348	3.516000	0.53194	.	.	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.483000	0.28633	0.0:1.0:0.0:0.0	18.203	0.89781	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004032	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.015152	0.02632	822.33	34	chr17	76279089	.	C	T	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.273;DP=736;ExcessHet=0;FS=4.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.883;SOR=0.637	GT:AD:DP:GQ:PL	0/1:36,37:73:99:836,0,839	18	0	1	0
chr17	76472823	76472823	C	T	exonic	RHBDF2	.	nonsynonymous SNV	RHBDF2:NM_001005498:exon18:c.G1927A:p.V643M,RHBDF2:NM_001376228:exon18:c.G1927A:p.V643M,RHBDF2:NM_001376229:exon18:c.G1927A:p.V643M,RHBDF2:NM_001376230:exon18:c.G1927A:p.V643M,RHBDF2:NM_024599:exon18:c.G2014A:p.V672M	Tylosis with esophageal cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0312831591121	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316430917	4.85e-06	4.788e-06	5.502e-06	4.188e-06	6.347e-06	2.02e-06	1.3e-06	2.64e-06	1.7e-06	0	0	0	0	0	0	6.347e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.037	0.51737	D	0.991	0.64070	D	0.782	0.57384	P	0.000005	0.62929	D	0.062033	0.999983	0.54805	D	0.8	0.19659	N	2.57	0.13552	T	-1.63	0.39119	N	0.719	0.72120	-1.1401	0.01354	T	0.079	0.31254	T	10	0.5912163	0.66391	D	0.031283	0.53406	D	0.290	0.60924	0.574	0.69826	0.6781604053	0.67542	0.7917269160900299	0.79124	1.00132167106	0.74418	0.649411439896	0.59902	T	0.02872	0.20742	T	0.014505	0.53637	T	-0.216941	0.53031	T	0.892173237317337	0.54323	D	0.962554	0.86792	D	0.33006328	0.55476	0.37887347	0.62955	0.33006328	0.55476	0.37887347	0.62955	-9.851	0.73148	D	.	.	0.420	0.60651	A	.;.;.	.;.;.	5.351748	0.89774	31	0.99822572631865747	0.90502	0.98721	0.86006	D	AEFDGBI	0.920417	0.89236	D	0.600639889200183	0.73216	5.929953	0.587013533812262	0.74008	6.064606	0.999999950566184	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	7.899000	0.85994	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.189	0.93643	940	0.13648	Peptidase S54, rhomboid domain;.;Peptidase S54, rhomboid 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	584.33	33	chr17	76472823	.	C	T	584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.822;SOR=0.646	GT:AD:DP:GQ:PL	0/1:31,22:53:99:598,0,791	18	0	1	0
chr17	76906030	76906030	A	G	exonic	MGAT5B	.	nonsynonymous SNV	MGAT5B:NM_198955:exon7:c.A901G:p.I301V,MGAT5B:NM_001199172:exon8:c.A868G:p.I290V,MGAT5B:NM_144677:exon8:c.A868G:p.I290V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	0.00259585	0.0012	0	0	0	0	0	0.0011	0.0091	0.0010284	159	154602	rs571777359	0.0005	0.0005	0.0003	0.0007	0.0075	0.0004	0.0004	0.0071	0.0069	0	2.29e-05	0	2.629e-05	0	0	9.027e-06	0.0004	0.0075	0.0003	0.0003	0.0001	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	4.812e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0079	0.273	0.15876	T	0.644	0.09175	T	0.018	0.17786	B	0.007	0.12992	B	0.000019	0.62929	D	0.117279	0.998097	0.44502	D	0.72	0.18721	N	0.92	0.44856	T	-0.42	0.14193	N	0.213	0.23758	-1.0555	0.12908	T	0.100	0.37290	T	10	0.011682868	0.00254	T	.	.	.	0.100	0.28662	0.267	0.21418	0.559773648941	0.55639	0.2615896819477685	0.26071	0.337056872299	0.35705	0.419393599033	0.27753	T	0.027298	0.20020	T	-0.520016	0.00440	T	-0.515038	0.20798	T	0.042270247647246	0.04105	T	0.794521	0.43681	T	0.10904436	0.25782	0.19265366	0.42792	0.10904436	0.25781	0.19265366	0.42791	-4.938	0.36840	T	.	.	0.079	0.15115	B	.;.;.	.;.;.	3.023320	0.40473	21.2	0.99793401603466247	0.87928	0.89561	0.50104	D	AEFDBI	0.520683	0.54544	D	-0.0133302052482191	0.41253	2.464129	0.170114458359675	0.48218	3.040701	0.105225434478483	0.16497	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	5.067000	0.64187	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.772	0.69310	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	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	104.33	34	chr17	76906030	.	A	G	104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=606;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.17;ReadPosRankSum=-0.728;SOR=1.302	GT:AD:DP:GQ:PL	0/1:18,7:25:99:118,0,393	18	0	1	0
chr17	78121043	78121043	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon12:c.C1505T:p.P502L,TMC6:NM_001321185:exon12:c.C1505T:p.P502L,TMC6:NM_001374593:exon12:c.C1505T:p.P502L,TMC6:NM_001374594:exon12:c.C1505T:p.P502L,TMC6:NM_001374596:exon12:c.C1505T:p.P502L,TMC6:NM_001375353:exon12:c.C1505T:p.P502L,TMC6:NM_001375354:exon12:c.C1505T:p.P502L,TMC6:NM_007267:exon12:c.C1505T:p.P502L	Epidermodysplasia verruciformis, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	468427	not_provided|Epidermodysplasia_verruciformis	MedGen:C3661900|MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.633	.	0.0049	0.00219649	0.0087	0.0014	0.0009	0	0.0359	0.0114	0.0114	0.0019	0.0081952	1267	154602	rs75400929	0.0084	0.0084	0.0087	0.0080	0.0085	0.0083	0.0082	0.0084	0.0083	0.0007	0.0014	0.0010	2.519e-05	0.0390	0.0003	0.0085	0.0067	0.0022	0.0072	0.0072	0.0064	0.0081	0.0091	0.0069	0.0067	0.0085	0.0082	0.0013	0	0.0007	0.0026	0	0.0371	0	0.0091	0.0047	0.0021	0.0	0.91255	D	0.002	0.92824	D	0.997	0.90584	D	0.841	0.97372	P	0.000002	0.62929	D	0.059438	0.999942	0.81001	D	2.9	0.83903	M	-0.02	0.76300	T	-9.62	0.98541	D	0.388	0.60495	0.270	0.87076	D	0.539	0.82965	D	10	0.0065681934	0.00149	T	.	.	.	0.633	0.85924	.	.	0.693245939766	0.69060	0.623021277928312	0.62235	0.680927145743	0.60024	0.5122859478	0.40542	T	0.34332	0.71198	T	-0.0871349	0.38547	T	0.110022	0.77574	D	0.0526360698193335	0.05956	T	0.906209	0.68297	D	0.79198456	0.83398	0.62299186	0.78032	0.805803	0.84280	0.62764555	0.78289	-9.352	0.69934	D	.	.	0.193	0.43297	B	.;.;.;.;.	.;.;.;.;.	4.533189	0.71188	25.6	0.99765800395900672	0.85417	0.98003	0.78791	D	AEFDGBCI	0.894373	0.83329	D	0.660535140647336	0.77054	6.601102	0.566720152622439	0.72569	5.830457	0.999999999999669	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.93	3.93	0.44666	4.461000	0.59851	11.358000	0.92584	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.633000	0.32236	0.0:0.0:1.0:0.0	15.725	0.77510	835	0.38313	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1903.33	33	chr17	78121043	.	G	A	1903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=786;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=2.2;SOR=0.797	GT:AD:DP:GQ:PL	0/1:52,71:123:99:1917,0,1226	18	0	1	0
chr17	80337683	80337683	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon24:c.A4625G:p.Q1542R	.	0	1518	4	0	0	4	0.00131579	.	.	.	756232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.00959435454053	.	.	0.0009	0	0.0066	0	0	0.0001	0.0060	0.0015	0.0001035	16	154602	rs781412586	0.0001	9.577e-05	5.132e-05	0.0002	0.0016	8.699e-05	8.215e-05	0.0014	0.0013	0	2.801e-05	0	0	0	0.0002	5.561e-06	0.0001	0.0016	2.628e-05	2.626e-05	2.569e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	2.939e-05	0	0.0004	0.08	0.33585	T	0.124	0.35455	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.93	0.22881	T	-1.33	0.33197	N	0.049	0.02088	-1.0081	0.27510	T	0.054	0.22693	T	6	0.00625214	0.00141	T	0.009594	0.25085	T	0.059	0.16972	.	.	0.319402600006	0.31557	.	.	0.352426095465	0.37077	0.270537734032	0.06211	T	0.024836	0.18689	T	-0.555682	0.00269	T	-0.606353	0.12284	T	0.0147499311876277	0.00308	T	0.578742	0.20864	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05756	B	.;.	.;.	-0.205944	0.03059	0.475	0.24925806892756242	0.01125	0.02640	0.07239	N	AEFBI	0.027673	0.02302	N	-0.939799336059804	0.09923	0.4718391	-1.06684509049179	0.08360	0.4106858	7.18112796508394E-5	0.04552	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.66	-1.18	0.09122	0.015000	0.13250	0.482000	0.18815	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.4542:0.127:0.4187:0.0	6.049	0.19003	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	1	0	.	.	.	.	.	.	.	.	0.05263	3226.83	55	chr17	80337683	.	A	G	3226.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.163;DP=978;ExcessHet=0.119;FS=2.933;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.175;SOR=0.895	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1397,0,1602	17	0	2	0
chr17	81868697	81868697	G	C	exonic	ARHGDIA	.	nonsynonymous SNV	ARHGDIA:NM_001301242:exon7:c.C682G:p.P228A	Nephrotic syndrome, type 8, Autosomal recessive	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0	0	.	0	0	0.0012	7.76e-05	12	154602	rs563157861	9.914e-05	9.645e-05	5.714e-05	0.0001	0.0012	8.56e-05	8.022e-05	0.0010	0.0009	0	0.0003	0.0009	0	0	0.0002	2.782e-06	0.0002	0.0012	5.913e-05	5.906e-05	7.712e-05	4.032e-05	0.0006	3.077e-05	2.21e-05	0.0002	8.992e-05	0	0	6.539e-05	0.0012	0	0	0	1.471e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999991	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011080116	0.00244	T	.	.	.	.	.	.	.	0.264728329957	0.26087	.	.	.	.	.	.	.	0.00533	0.04780	T	-0.50553	0.00532	T	-0.534314	0.18859	T	.	.	.	0.253275	0.03871	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00321	B	.	.	0.421013	0.07917	4.622	0.58777693081815685	0.06071	0.30059	0.23984	N	ALL	0.090433	0.18324	N	.	.	.	.	.	.	0.999999999983098	0.74766	0.741868	0.97996	0	0.696144	0.67643	0	0.774882	0.98623	0	0.711	0.71501	0	.	.	2.29	-0.0892	0.13005	-0.516000	0.06367	0.094000	0.14556	-0.113000	0.14837	0.000000	0.06391	0.791000	0.26863	0.003000	0.05239	0.1752:0.0:0.5494:0.2754	2.723	0.04883	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	726.33	35	chr17	81868697	.	G	C	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=697;ExcessHet=0;FS=2.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.24;SOR=0.878	GT:AD:DP:GQ:PL	0/1:33,27:60:99:740,0,898	18	0	1	0
chr17	82080431	82080431	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon40:c.C6986T:p.P2329L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00449159257396	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173622836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.302	0.20228	T	0.004	0.12183	B	0.003	0.08700	B	0.024510	0.26249	N	0.392341	0.969475	0.38730	D	0.695	0.17993	N	1.76	0.25996	T	-2.5	0.54382	D	0.529	0.55799	-1.0762	0.08104	T	0.033	0.14117	T	10	0.30888435	0.48381	T	0.004492	0.11031	T	0.077	0.22490	0.534	0.64293	0.358048530964	0.35414	0.44724167969934414	0.44642	.	.	0.387632161379	0.23336	T	0.320309	0.69151	T	-0.179817	0.23763	T	-0.496071	0.22755	T	0.124526243835809	0.14866	T	0.790821	0.43180	T	0.13812089	0.31956	0.13515916	0.32368	0.13812089	0.31956	0.13515916	0.32368	-4.789	0.34463	T	.	.	0.084	0.10014	B	.;.	.;.	1.785173	0.22693	15.72	0.93676513941104589	0.23575	0.97209	0.73334	D	AEFDBCI	0.405426	0.47832	N	-0.607189723263872	0.18727	0.9746026	-0.546642935208082	0.20895	1.12786	0.960514597896119	0.28494	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.02	2.96	0.33383	1.114000	0.30811	6.582000	0.56000	0.618000	0.50648	0.848000	0.30412	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.5413:0.4587	9.232	0.36607	.	.	Thioesterase;Thioesterase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	35	chr17	82080431	.	G	A	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.903;DP=739;ExcessHet=0;FS=5.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.019;SOR=0.402	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1273,0,1295	18	0	1	0
chr17	82831094	82831094	G	T	exonic	ZNF750	.	nonsynonymous SNV	ZNF750:NM_024702:exon2:c.C1361A:p.A454D	Seborrhea-like dermatitis with psoriasiform elements	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0219350687293	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs758913921	1.094e-05	1.094e-05	8.167e-06	1.375e-05	0.0002	6.48e-06	5.24e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	0	3.311e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.046	0.72224	D	0.996	0.68779	D	0.936	0.67150	D	0.004382	0.33795	N	0.204082	1	0.81001	D	2.415	0.69758	M	2.55	0.13795	T	-2.63	0.56466	D	0.463	0.74007	-1.1292	0.01821	T	0.076	0.30645	T	9	0.35896033	0.52575	T	0.021935	0.44774	T	0.156	0.40720	0.178	0.08503	0.102598925029	0.09809	0.5112865470516449	0.51050	0.948189309248	0.72500	0.414297580719	0.27051	T	0.140418	0.54840	T	-0.204223	0.20197	T	-0.29446	0.45307	T	0.958296239376068	0.65232	D	0.768323	0.39714	T	0.572042	0.71173	0.6609687	0.80135	0.572042	0.71174	0.6609687	0.80136	-5.311	0.40052	T	.	.	0.338	0.64658	B	.;.	.;.	3.110071	0.41948	21.4	0.99666181430123713	0.78266	0.92405	0.55636	D	AEFBI	0.214741	0.34018	N	0.381993864960781	0.60447	4.233652	0.294428342433876	0.55214	3.684603	0.108813057393237	0.16592	0.372202	0.05800	0	0.54472	0.11627	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	4.4	4.4	0.52402	1.593000	0.36297	2.410000	0.32637	0.676000	0.76740	0.976000	0.34826	1.000000	0.68203	0.055000	0.15596	0.0:0.1716:0.8284:0.0	12.250	0.53910	.	.	.;.	.	.	.	.	.	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	1421.33	41	chr17	82831094	.	G	T	1421.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.246;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=0.799;SOR=0.7	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1435,0,978	18	0	1	0
chr18	48112	48112	C	T	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.G613A:p.E205K	.	1	1514	7	0	0	7	0.00230643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	.	.	0.00159744	0.0026	0.0003	0.0003	0.0001	0	1.548e-05	0	0.0181	5.17e-05	8	154602	rs572018726	0.0001	0.0008	9.402e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	0.0002	0	0	0	0.0005	8.094e-06	0.0002	0.0020	4.598e-05	0.0004	5.142e-05	4.03e-05	0.0011	2.109e-05	1.527e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	0.000009	0.62929	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4504	0.70387	T	0.301	0.67176	T	6	0.0108805895	0.00240	T	.	.	.	0.308	0.62947	.	.	0.461495907335	0.45776	0.11374722985313494	0.11302	.	.	.	.	.	.	.	.	0.0190336	0.54251	T	-0.210436	0.53654	T	0.20010854591059	0.20422	T	0.981702	0.93821	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13362	B	.	.	2.227565	0.28431	17.80	0.96401335620662976	0.29689	0.54131	0.29540	D	AEFBI	0.233300	0.35625	N	-0.40537896516006	0.25280	1.371142	-0.605956594896981	0.19340	1.037168	9.97561248961988E-4	0.08103	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	5.591000	0.67229	3.916000	0.40440	0.314000	0.19222	1.000000	0.71638	0.999000	0.35428	0.005000	0.06747	0.0:0.9994:0.0:6.0E-4	5.991	0.18695	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	64.33	141	chr18	48112	.	C	T	64.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.216;DP=3000;ExcessHet=0;FS=4.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.37;MQRankSum=0.138;QD=0.31;ReadPosRankSum=0.486;SOR=1.185	GT:AD:DP:GQ:PL	0/1:181,25:206:78:78,0,5425	18	0	1	0
chr18	48220	48220	T	C	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.A505G:p.I169V	.	4	1514	4	0	0	4	0.00131926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	.	.	0.0031	0.0100	0.0003	0.0002	0	6.242e-05	0	0.0159	6.5e-06	1	154602	rs770734683	0.0001	0.0009	0.0001	0.0001	0.0020	9.779e-05	9.255e-05	0.0016	0.0015	0.0020	8.952e-05	0	0	0	0.0012	9.017e-07	0.0002	0.0009	0.0012	0.0030	0.0013	0.0012	0.0041	0.0011	0.0010	0.0036	0.0034	0.0041	0	0.0003	0	0.0002	0	0	4.41e-05	0.0019	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	0.013178	0.28928	N	0.210163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6597	0.62289	T	0.250	0.62004	T	6	0.008368224	0.00190	T	.	.	.	0.118	0.32913	.	.	0.186928172975	0.18263	0.017705818369474817	0.01725	.	.	.	.	.	.	.	.	-0.231047	0.16510	T	-0.569659	0.15480	T	0.0188464916297485	0.00595	T	0.622938	0.23989	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02428	B	.	.	-1.352301	0.00396	0.008	0.30944494373208264	0.01719	0.03010	0.07880	N	AEFBI	0.033394	0.03951	N	-0.901824552510466	0.10800	0.5178658	-1.09118620051859	0.07872	0.3847297	1.95029489271403E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	2.212000	0.42474	0.790000	0.21560	-2.887000	0.00165	1.000000	0.71638	0.223000	0.23728	0.003000	0.05239	0.0:0.6496:0.0:0.3504	4.690	0.12156	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	214.33	92	chr18	48220	.	T	C	214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.507;DP=1661;ExcessHet=0;FS=5.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.74;MQRankSum=-2.01;QD=1.5;ReadPosRankSum=-0.06;SOR=1.397	GT:AD:DP:GQ:PL	0/1:120,23:143:99:228,0,3632	18	0	1	0
chr18	2907026	2907026	T	C	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.T2603C:p.V868A	.	440	1078	4	0	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.00299521	0.0239	0	0	0	.	0	0	0.0288	0.0004851	75	154602	rs376232778	0.0006	0.0008	0.0004	0.0008	0.0164	0.0006	0.0006	0.0154	0.0149	8.465e-05	9.335e-05	0	0.0001	0	0.0010	1.14e-05	0.0012	0.0164	0.0006	0.0006	0.0003	0.0009	0.0188	0.0005	0.0005	0.0157	0.0145	2.409e-05	0	0.0001	0	0	0	0	1.472e-05	0	0.0188	0.324	0.13392	T	0.323	0.18959	T	0.004	0.12183	B	0.004	0.10090	B	0.022941	0.26535	N	0.318625	0.999919	0.51042	D	1.285	0.32305	L	1.67	0.27331	T	-0.89	0.24026	N	0.133	0.12913	-1.0819	0.06984	T	0.043	0.18535	T	10	0.0031603575	0.00053	T	.	.	.	0.035	0.08770	0.178	0.08503	0.171388866994	0.16791	0.11567556026696307	0.11495	0.103024876547	0.11653	0.482304692268	0.36374	T	0.011615	0.10339	T	-0.532242	0.00373	T	-0.524331	0.19857	T	0.0319539789783382	0.02299	T	0.538446	0.18153	T	0.10254853	0.24233	0.048059814	0.07059	0.10254853	0.24233	0.048059814	0.07058	-2.551	0.06139	T	.	.	0.068	0.02927	B	.	.	1.377201	0.17880	13.42	0.51367023056234795	0.04550	0.51833	0.28988	D	ALL	0.239278	0.36126	N	-0.726146657633592	0.15288	0.7692241	-0.627982805172646	0.18775	1.004479	0.999999999999402	0.74766	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.492483	0.08430	1	.	.	4.6	3.45	0.38602	0.187000	0.16806	1.183000	0.24710	0.591000	0.32079	0.220000	0.24536	1.000000	0.68203	0.004000	0.06068	0.0:0.0928:0.0:0.9072	8.027	0.29601	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	189.35	7	chr18	2907026	.	T	C	189.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=256;ExcessHet=0;FS=0;InbreedingCoeff=-0.0282;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-1.255;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,8:15:99:0|1:2907026_T_C:203,0,185:2907026	18	0	1	0
chr18	5891054	5891054	C	A	exonic	TMEM200C	.	nonsynonymous SNV	TMEM200C:NM_001080209:exon3:c.G1010T:p.R337L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	0.00259585	0.0625	.	0	0	.	0	0	0.0676	0.0006468	100	154602	rs577863972	0.0026	0.0021	0.0012	0.0038	0.0245	0.0025	0.0024	0.0232	0.0227	0	0	0	0.0018	0	0.0005	2.846e-05	0.0020	0.0245	0.0010	0.0010	0.0006	0.0014	0.0225	0.0009	0.0008	0.0190	0.0177	0.0003	0	6.561e-05	0	0.0059	0	0	0	0	0.0225	0.008	0.58626	D	0.119	0.36101	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	0.999476	0.21134	N	1.39	0.34934	L	.	.	.	-1.12	0.28906	N	0.062	0.21969	-1.0319	0.19841	T	0.041	0.17530	T	8	0.0026337802	0.00041	T	.	.	.	0.060	0.17295	0.279	0.23323	.	.	0.48039329688838245	0.47959	.	.	0.858114778996	0.90833	D	0.007577	0.06977	T	-0.496872	0.00595	T	-0.437032	0.29140	T	0.0980449051190483	0.12140	T	0.490351	0.15073	T	0.1420179	0.32700	0.15066446	0.35522	0.1420179	0.32699	0.15066446	0.35521	-4.286	0.27980	T	.	.	0.133	0.32685	B	.;.	.;.	2.683634	0.35018	19.78	0.99579120134917298	0.72861	0.45437	0.27538	N	AEFDBCIJ	0.097653	0.19691	N	-0.729800992905297	0.15188	0.7632302	-0.646230869962333	0.18311	0.9776579	0.99995004702617	0.48110	0.652421	0.48094	0	0.541168	0.11318	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.0	0.772	0.17655	-0.038000	0.12096	1.402000	0.26205	0.439000	0.21057	0.982000	0.35529	0.370000	0.24564	0.768000	0.36443	0.2463:0.5125:0.2412:0.0	4.838	0.12839	981	0.03995	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012270	0.009091	0.000000	0.000000	0.000000	0.000000	0.000000	0.037500	0.02632	850.33	31	chr18	5891054	.	C	A	850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.993;DP=641;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=0.126;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,22:42:99:0|1:5891054_C_A:864,0,774:5891054	18	0	1	0
chr18	5891055	5891055	G	A	exonic	TMEM200C	.	nonsynonymous SNV	TMEM200C:NM_001080209:exon3:c.C1009T:p.R337W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00259585	0.0595	.	0	0	.	0	0	0.0641	0.0006339	98	154602	rs559244640	0.0026	0.0021	0.0012	0.0038	0.0245	0.0025	0.0024	0.0232	0.0226	0	0	0	0.0018	0	0.0005	3.247e-05	0.0020	0.0245	0.0010	0.0010	0.0006	0.0014	0.0224	0.0009	0.0008	0.0190	0.0177	0.0003	0	6.552e-05	0	0.0059	0	0	0	0	0.0224	0.002	0.72154	D	0.018	0.59732	D	0.984	0.60733	D	0.264	0.39629	B	.	.	.	.	0.999704	0.20638	N	1.39	0.34934	L	.	.	.	-1.55	0.37566	N	0.083	0.24385	-1.0664	0.10223	T	0.033	0.14073	T	8	0.0035555065	0.00064	T	.	.	.	0.068	0.19811	0.267	0.21418	.	.	0.5032516992836831	0.50247	.	.	0.872203469276	0.92883	D	0.00925	0.08431	T	-0.427909	0.01526	T	-0.338759	0.40484	T	0.0734478054094691	0.09127	T	0.615438	0.23533	T	0.14074144	0.32460	0.15966734	0.37227	0.14074144	0.32459	0.15966734	0.37226	-5.799	0.44566	T	.	.	0.180	0.42185	B	.;.	.;.	4.517383	0.70792	25.6	0.99814745942130512	0.89797	0.47169	0.27923	N	AEFDBCIJ	0.296134	0.40606	N	-0.23989432611783	0.31509	1.767463	-0.24919397739901	0.29799	1.672486	0.999977032398014	0.50053	0.652421	0.48094	0	0.541168	0.11318	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.0	2.07	0.26004	2.191000	0.42272	5.009000	0.46655	0.491000	0.22372	0.998000	0.41325	1.000000	0.68203	0.778000	0.36829	0.0:0.0:0.7363:0.2637	7.269	0.25419	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007692	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.037500	0.02632	850.33	31	chr18	5891055	.	G	A	850.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=0.164;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,22:42:99:0|1:5891054_C_A:864,0,774:5891054	18	0	1	0
chr18	6890539	6890539	G	T	exonic	ARHGAP28	.	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1367T:p.R456L,ARHGAP28:NM_001366230:exon14:c.G1844T:p.R615L,ARHGAP28:NM_001366231:exon14:c.G1844T:p.R615L	.	435	1062	25	0	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	0.0013	0.00878594	0.0063	0.0004	0.0013	0.0189	0	0.0015	0.0012	0.0324	0.0053816	832	154602	rs74414891	0.0033	0.0034	0.0026	0.0041	0.0255	0.0032	0.0032	0.0246	0.0243	0.0004	0.0010	0.0038	0.0199	5.637e-05	0.0139	0.0013	0.0038	0.0255	0.0024	0.0024	0.0021	0.0026	0.0249	0.0022	0.0021	0.0213	0.0199	0.0004	0	0.0015	0.0035	0.0168	0	0.0068	0.0014	0.0014	0.0249	0.002	0.72154	D	0.009	0.74150	D	1.0	0.90584	D	0.977	0.80445	D	0.001276	0.39594	N	0.254470	0.999999	0.81001	D	2.845	0.82663	M	3.18	0.10482	T	-4.25	0.81910	D	0.603	0.65501	-1.0987	0.04252	T	0.094	0.35551	T	10	0.0055380464	0.00122	T	.	.	.	0.263	0.57612	.	.	0.511220899679	0.50763	0.4944415560464715	0.49365	0.768272729556	0.64638	0.456587791443	0.32844	T	0.198741	0.55581	T	-0.144411	0.29190	T	0.0393842	0.72888	D	0.0497714532028	0.05461	T	0.881612	0.60617	D	0.25142154	0.48151	0.20026965	0.43949	0.25142154	0.48150	0.20026965	0.43948	-5.582	0.47166	T	.	.	0.369	0.60693	A	.;.;.;.;.;.	.;.;.;.;.;.	4.280408	0.65203	24.8	0.99800484344759965	0.88550	0.92405	0.55636	D	AEFBI	0.458825	0.50969	N	0.597714771600917	0.73030	5.900242	0.510549642992938	0.68698	5.256236	0.999965057537545	0.48965	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	4.878000	0.62786	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:0.0:1.0:0.0	17.769	0.88395	776	0.48302	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1060.33	35	chr18	6890539	.	G	T	1060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.021;DP=766;ExcessHet=0;FS=2.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-0.17;SOR=0.377	GT:AD:DP:GQ:PL	0/1:15,40:55:99:1074,0,287	18	0	1	0
chr18	7231883	7231883	A	G	exonic	LRRC30	.	nonsynonymous SNV	LRRC30:NM_001105581:exon1:c.A745G:p.S249G	.	431	1046	43	2	0	47	0.0219729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00605197570349	0.0044	0.00239617	0.0049	0.0010	0.0042	0.0001	0.0005	0.0058	0.0089	0.0081	0.0047671	737	154602	rs144753731	0.0056	0.0056	0.0054	0.0058	0.0158	0.0055	0.0055	0.0132	0.0122	0.0007	0.0046	0.0108	0	0.0005	0.0158	0.0059	0.0062	0.0078	0.0043	0.0043	0.0044	0.0042	0.0073	0.0040	0.0039	0.0062	0.0058	0.0010	0	0.0073	0.0127	0	0.0002	0.0306	0.0059	0.0076	0.0067	0.339	0.12754	T	0.224	0.25591	T	0.0	0.02946	B	0.0	0.01387	B	0.624241	0.10748	N	0.851984	1	0.08975	N	0.55	0.14455	N	1.8	0.25344	T	-1.51	0.36787	N	0.189	0.20660	-0.9943	0.31485	T	0.029	0.12629	T	10	0.0066648424	0.00151	T	0.006052	0.15816	T	0.067	0.19503	.	.	0.187945064343	0.18414	0.1451803871935659	0.14441	0.0569548128432	0.06297	0.265670597553	0.05585	T	0.025623	0.19125	T	-0.686587	0.00044	T	-0.751762	0.03417	T	0.00909780993611221	0.00114	T	0.357364	0.08134	T	0.0578047	0.11550	0.06349847	0.12585	0.0578047	0.11549	0.06349847	0.12585	-5.375	0.40678	T	.	.	0.057	0.00524	B	.	.	0.762737	0.11325	7.946	0.83079038511904924	0.14531	0.01811	0.05641	N	AEFDBI	0.019787	0.00720	N	-0.820921435434659	0.12776	0.6249684	-0.740160181653627	0.15964	0.8422334	9.40402177696361E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	3.04	0.34171	3.211000	0.50839	4.388000	0.43204	-0.758000	0.03527	0.933000	0.32380	1.000000	0.68203	0.012000	0.09680	0.1416:0.1348:0.7236:0.0	8.463	0.32097	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.009511	0.005848	0.050000	0.025862	0.024390	0.011364	0.02632	2452.33	35	chr18	7231883	.	A	G	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.212;DP=821;ExcessHet=0;FS=3.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.984;SOR=1.002	GT:AD:DP:GQ:PL	0/1:65,93:158:99:2466,0,1808	18	0	1	0
chr18	9255083	9255083	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A1747G:p.S583G,ANKRD12:NM_001204056:exon8:c.A1747G:p.S583G,ANKRD12:NM_015208:exon9:c.A1816G:p.S606G	.	444	1063	15	0	0	15	0.00700607	.	.	.	2818199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.319	.	0.0006	0.00279553	0.0023	0	0.0007	0.0001	0	0.0016	0.0045	0.0096	0.002031	314	154602	rs141484109	0.0014	0.0014	0.0012	0.0017	0.0094	0.0014	0.0013	0.0088	0.0086	0.0001	0.0017	0.0122	2.549e-05	0.0002	0.0068	0.0007	0.0021	0.0094	0.0014	0.0014	0.0012	0.0016	0.0103	0.0012	0.0012	0.0081	0.0072	0.0001	0	0.0020	0.0139	0.0002	0	0.0034	0.0010	0.0028	0.0103	0.007	0.59928	D	0.122	0.35710	T	0.089	0.27697	B	0.049	0.31211	B	0.001220	0.39820	N	0.326549	0.999434	0.47043	D	2.045	0.56016	M	-3.05	0.92407	D	-2.17	0.49018	N	0.134	0.13055	0.283	0.87291	D	0.634	0.87175	D	10	0.006050378	0.00136	T	.	.	.	0.319	0.64112	.	.	0.850899483868	0.84947	0.008447744694275186	0.00808	.	.	0.323494970798	0.13951	T	0.118752	0.43978	T	-0.306687	0.08043	T	-0.206347	0.54044	T	0.0571900189164121	0.06720	T	0.889911	0.62289	D	0.11995505	0.28234	0.1270894	0.30598	0.11995505	0.28234	0.1270894	0.30598	-4.784	0.34452	T	.	.	0.080	0.07841	B	.;.	.;.	3.532567	0.49572	22.8	0.98680219501910782	0.44610	0.99222	0.93031	D	AEFGBI	0.831702	0.75020	D	0.163747247752914	0.49465	3.146559	0.289998215535079	0.54953	3.65911	0.999996349590426	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.7	4.55	0.55429	7.165000	0.77109	9.161000	0.78990	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.9281:0.0:0.0719:0.0	11.108	0.47436	356	0.85138	.;.	.	.	.	.	.	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	0.005045	0.000000	0.002717	0.002924	0.100000	0.000000	0.003067	0.015152	0.02632	1514.33	40	chr18	9255083	.	A	G	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.424;DP=774;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.502;SOR=0.83	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1528,0,1744	18	0	1	0
chr18	12127779	12127779	A	C	exonic	ANKRD62	.	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.A2594C:p.D865A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.00679817398095	.	.	0.0001	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs776030601	8.344e-06	7.524e-06	1.494e-06	1.541e-05	0.0002	4.48e-06	3.27e-06	9.351e-05	7.233e-05	0	0	0	0	0	0	0	0	0.0002	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.27	0.00744	N	.	.	.	.	.	.	0.084	0.06059	-0.9610	0.38993	T	0.121	0.42101	T	9	0.030057192	0.01132	T	0.006798	0.17982	T	.	.	0.155	0.05858	0.0138822411134	0.00435	0.031123102499489578	0.03061	0.500818857025	0.48483	0.667882144451	0.62536	T	0.00361	0.03020	T	-0.490772	0.00643	T	-0.706068	0.05500	T	0.0451664987765032	0.04632	T	0.0828917	0.00608	T	0.0365369	0.04512	0.047400944	0.06819	0.0365369	0.04512	0.047400944	0.06818	-5.827	0.44809	T	.	.	0.105	0.19357	B	.	.	0.310901	0.06862	3.392	0.1085738472034303	0.00148	0.00830	0.03341	N	AEFGBI	0.021146	0.00911	N	-1.50211981556193	0.01836	0.08050287	-1.46337014683872	0.02651	0.1223195	3.06470876330964E-4	0.06454	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.85	-1.59	0.08003	1.166000	0.31444	-1.009000	0.06620	-0.666000	0.04332	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.4433:0.3236:0.2331:0.0	4.092	0.09446	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	1078.33	33	chr18	12127779	.	A	C	1078.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.786;DP=710;ExcessHet=0;FS=0.909;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.183;SOR=0.553	GT:AD:DP:GQ:PL	0/1:33,43:76:99:1092,0,838	18	0	1	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	0/1:42,25:67:99:135,0,599	13	0	5	1
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	0/1:228,73:301:99:1352,0,5842	7	0	10	2
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:34,24:61:99:235,0,547	2	0	16	1
chr18	36174544	36174544	A	G	exonic	ELP2	.	nonsynonymous SNV	ELP2:NM_001242879:exon19:c.A2174G:p.E725G,ELP2:NM_001242878:exon20:c.A2174G:p.E725G,ELP2:NM_001242876:exon21:c.A2369G:p.E790G,ELP2:NM_001242877:exon21:c.A2306G:p.E769G,ELP2:NM_001324465:exon21:c.A2252G:p.E751G,ELP2:NM_001324467:exon21:c.A2234G:p.E745G,ELP2:NM_001324468:exon21:c.A1937G:p.E646G,ELP2:NM_001324466:exon22:c.A2501G:p.E834G,ELP2:NM_018255:exon22:c.A2384G:p.E795G,ELP2:NM_001242875:exon23:c.A2579G:p.E860G	Mental retardation, autosomal recessive 58, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0002	0.0295527	0.0118	0.0003	0.0078	0.1436	0.0009	0.0004	0.0156	0.0025	0.0110671	1711	154602	rs12607773	0.0046	0.0046	0.0047	0.0045	0.1345	0.0045	0.0045	0.1315	0.1303	0.0002	0.0059	0.0023	0.1345	0.0008	0.0005	0.0002	0.0090	0.0030	0.0055	0.0055	0.0049	0.0060	0.1310	0.0051	0.0050	0.1228	0.1196	0.0001	0	0.0043	0.0023	0.1310	0.0012	0	0.0003	0.0061	0.0056	0.402	0.10553	T	0.345	0.17750	T	0.001	0.09854	B	0.002	0.10090	B	0.012741	0.29068	N	0.398618	0.86919	0.28234	N	0.145	0.08828	N	0.25	0.59449	T	0.78	0.02404	N	0.075	0.07949	-1.1012	0.03949	T	0.001	0.00188	T	10	0.0016205311	0.00019	T	.	.	.	0.072	0.21020	.	.	.	.	0.29945366450394406	0.29858	0.0929261521054	0.10492	0.32894846797	0.14776	T	0.00497	0.04396	T	-0.547735	0.00301	T	-0.441428	0.28648	T	0.0226333583435455	0.00980	T	0.789121	0.42899	T	0.050401565	0.09101	0.038881287	0.03856	0.03925867	0.05385	0.038881287	0.03856	-4.247	0.32658	T	.	.	0.068	0.03128	B	.;.;.;.;.;.	.;.;.;.;.;.	0.841370	0.12131	8.681	0.70364481209777063	0.09271	0.69680	0.34284	D	AEFBI	0.254493	0.37380	N	-0.674554711475834	0.16748	0.856064	-0.499690574680858	0.22163	1.202426	0.999997760591399	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	4.7	0.58776	2.923000	0.48565	3.919000	0.40458	0.691000	0.84096	1.000000	0.71638	0.993000	0.31925	0.307000	0.24666	0.775:0.0:0.225:0.0	4.513	0.11327	848	0.35897	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	559.33	34	chr18	36174544	.	A	G	559.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=1.09;SOR=0.659	GT:AD:DP:GQ:PL	0/1:55,24:79:99:573,0,1326	18	0	1	0
chr18	55254522	55254522	A	G	exonic	TCF4	.	nonsynonymous SNV	TCF4:NM_001243234:exon8:c.T845C:p.L282P,TCF4:NM_001243235:exon8:c.T845C:p.L282P,TCF4:NM_001243236:exon8:c.T845C:p.L282P,TCF4:NM_001348214:exon8:c.T842C:p.L281P,TCF4:NM_001348215:exon8:c.T677C:p.L226P,TCF4:NM_001348216:exon8:c.T845C:p.L282P,TCF4:NM_001330605:exon10:c.T935C:p.L312P,TCF4:NM_001243232:exon11:c.T1112C:p.L371P,TCF4:NM_001243233:exon11:c.T935C:p.L312P,TCF4:NM_001306208:exon11:c.T1112C:p.L371P,TCF4:NM_001348212:exon11:c.T935C:p.L312P,TCF4:NM_001348213:exon11:c.T935C:p.L312P,TCF4:NM_001243231:exon13:c.T1199C:p.L400P,TCF4:NM_001348211:exon13:c.T1199C:p.L400P,TCF4:NM_001243227:exon14:c.T1253C:p.L418P,TCF4:NM_001243230:exon14:c.T1316C:p.L439P,TCF4:NM_001306207:exon14:c.T1253C:p.L418P,TCF4:NM_001348217:exon14:c.T1253C:p.L418P,TCF4:NM_001348218:exon14:c.T1253C:p.L418P,TCF4:NM_001348219:exon14:c.T1253C:p.L418P,TCF4:NM_001348220:exon14:c.T1250C:p.L417P,TCF4:NM_001369575:exon14:c.T1253C:p.L418P,TCF4:NM_001369576:exon14:c.T1250C:p.L417P,TCF4:NM_001369577:exon14:c.T1250C:p.L417P,TCF4:NM_001369578:exon14:c.T1250C:p.L417P,TCF4:NM_001369579:exon14:c.T1250C:p.L417P,TCF4:NM_001369580:exon14:c.T1250C:p.L417P,TCF4:NM_001369581:exon14:c.T1250C:p.L417P,TCF4:NM_001369582:exon14:c.T1253C:p.L418P,TCF4:NM_001369583:exon14:c.T1253C:p.L418P,TCF4:NM_001369584:exon14:c.T1250C:p.L417P,TCF4:NM_001369585:exon14:c.T1250C:p.L417P,TCF4:NM_001369586:exon14:c.T1256C:p.L419P,TCF4:NM_001083962:exon15:c.T1325C:p.L442P,TCF4:NM_001243228:exon15:c.T1343C:p.L448P,TCF4:NM_001330604:exon15:c.T1322C:p.L441P,TCF4:NM_001369567:exon15:c.T1325C:p.L442P,TCF4:NM_001369568:exon15:c.T1325C:p.L442P,TCF4:NM_001369569:exon15:c.T1322C:p.L441P,TCF4:NM_001369570:exon15:c.T1322C:p.L441P,TCF4:NM_001369571:exon15:c.T1325C:p.L442P,TCF4:NM_001369572:exon15:c.T1325C:p.L442P,TCF4:NM_001369573:exon15:c.T1322C:p.L441P,TCF4:NM_001369574:exon15:c.T1322C:p.L441P,TCF4:NM_003199:exon15:c.T1325C:p.L442P,TCF4:NM_001243226:exon16:c.T1631C:p.L544P	Corneal dystrophy, Fuchs endothelial, 3, Autosomal dominant;Pitt-Hopkins syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0380751440774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.23007	T	0.353	0.19539	T	0.995	0.67487	D	0.854	0.62825	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.985	0.24966	L	0.36	0.57880	T	-2.04	0.48850	N	0.889	0.91505	-0.8138	0.54319	T	0.205	0.56293	T	10	0.49267212	0.61084	T	0.038075	0.58005	D	0.393	0.70844	0.346	0.34112	0.742958707275	0.74065	0.7396614853883954	0.73911	1.83307485072	0.92076	0.701032102108	0.67292	T	0.024493	0.82395	T	0.285362	0.81769	D	0.172126	0.81535	D	0.725186109542847	0.41962	D	0.889011	0.61998	D	0.49477902	0.66787	0.4890818	0.70437	0.49477902	0.66788	0.4890818	0.70438	-2.976	0.21074	T	0.29667425779110584	0.39373	0.282	0.56690	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.166543	0.86585	29.0	0.99857338659879014	0.93639	0.98097	0.79572	D	AEFGBI	0.926190	0.90691	D	0.24383218665519	0.53334	3.502792	0.377261121183369	0.60165	4.201233	0.999999999999776	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	5.63	5.63	0.86108	7.454000	0.79769	11.267000	0.91274	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.817	0.69670	719	0.55657	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	838.33	39	chr18	55254522	.	A	G	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.192;SOR=0.779	GT:AD:DP:GQ:PL	0/1:45,33:78:99:852,0,1115	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	0/1:55,11:66:30:.:.:30,0,1331:.	1	0	18	0
chr18	75288031	75288031	C	T	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.C2624T:p.A875V,TSHZ1:NM_005786:exon2:c.C2489T:p.A830V	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3928673	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.0198251521381	.	.	6.616e-05	0	8.667e-05	0	0	7.52e-05	0.0011	6.066e-05	5.17e-05	8	154602	rs774528880	0.0001	0.0001	9.938e-05	0.0001	0.0002	8.713e-05	8.201e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0.0002	0.0001	3.311e-05	0.0002	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	0.585	0.05899	T	0.43	0.13713	T	0.988	0.62325	D	0.59	0.50460	P	0.000002	0.62929	D	0.057611	0.999281	0.21411	N	0.295	0.10161	N	2.75	0.14160	T	-0.56	0.17003	N	0.472	0.59053	-0.8988	0.48115	T	0.026	0.11043	T	10	0.100290775	0.18255	T	0.019825	0.42290	T	0.262	0.57482	0.077	0.00572	0.348454897831	0.34454	0.38984601862730717	0.38899	0.37558572423	0.39016	0.761021375656	0.76080	T	0.112045	0.42800	T	-0.364522	0.03881	T	-0.469238	0.25597	T	0.160368188430835	0.17899	T	0.862114	0.55677	D	0.2021271	0.42247	0.28629008	0.54637	0.2021271	0.42247	0.28629008	0.54636	-5.062	0.38012	T	.	.	0.095	0.14797	B	.;.	.;.	3.595108	0.50751	23.0	0.95076549866234961	0.26123	0.81164	0.40626	D	AEFBI	0.298293	0.40765	N	-0.753072895763648	0.14550	0.7257222	-0.726689178471856	0.16297	0.8614853	0.849559750391149	0.25018	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	4.618000	0.60914	6.016000	0.52721	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.408000	0.26961	0.0:1.0:0.0:0.0	16.756	0.85360	1000	0.00083	.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1441.33	39	chr18	75288031	.	C	T	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.812;DP=793;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=1.16;SOR=0.651	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1455,0,1374	18	0	1	0
chr19	815254	815254	G	A	exonic	PLPPR3	.	nonsynonymous SNV	PLPPR3:NM_001270366:exon4:c.C335T:p.A112V,PLPPR3:NM_024888:exon4:c.C335T:p.A112V	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	7.9e-05	0.00599042	0.0049	0	0.0007	0.0795	0	0.0009	0.0042	0.0030	0.0020828	322	154602	rs148299276	0.0018	0.0018	0.0017	0.0018	0.0537	0.0017	0.0017	0.0517	0.0509	6.246e-05	2.601e-05	0.0003	0.0537	0.0003	0.0009	0.0001	0.0019	0.0032	0.0015	0.0015	0.0012	0.0017	0.0332	0.0013	0.0012	0.0291	0.0276	0	0	0	0.0006	0.0332	0.0002	0	0.0002	0.0005	0.0066	0.277	0.15665	T	0.513	0.10714	T	0.003	0.14184	B	0.003	0.08700	B	0.001313	0.39449	N	0.168341	1	0.08975	N	.	.	.	0.76	0.49919	T	-1.23	0.31170	N	0.12	0.11054	-1.0629	0.11045	T	0.038	0.16548	T	10	0.0038315356	0.00072	T	.	.	.	0.066	0.19193	.	.	0.320256813643	0.31633	0.6039633367690228	0.60327	0.38731986894	0.40012	0.416379183531	0.27339	T	0.014386	0.12256	T	-0.568202	0.00227	T	-0.565275	0.15884	T	0.0115223211435003	0.00174	T	0.343166	0.09932	T	0.0318281	0.03093	0.034881465	0.02636	0.0318281	0.03093	0.034881465	0.02635	-5.629	0.43057	T	.	.	0.093	0.14155	B	.;.;.	.;.;.	2.205191	0.28130	17.69	0.98485630822496351	0.42037	0.30763	0.24166	N	AEFDBHCI	0.236743	0.35914	N	-0.690012755250025	0.16305	0.8295428	-0.700503380688525	0.16948	0.8989428	0.999846484721106	0.43971	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.664235	0.64389	0	.	.	4.33	3.28	0.36691	3.444000	0.52678	8.178000	0.76772	0.569000	0.28856	0.389000	0.26079	1.000000	0.68203	0.022000	0.11911	0.1137:0.0:0.8863:0.0	9.157	0.36162	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	0.005280	0.000000	0.005479	0.000000	0.000000	0.008929	0.012658	0.011538	0.02632	2372.33	40	chr19	815254	.	G	A	2372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.353;DP=989;ExcessHet=0;FS=9.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.114;SOR=0.547	GT:AD:DP:GQ:PL	0/1:65,98:163:99:2386,0,1340	18	0	1	0
chr19	856130	856130	C	T	exonic	ELANE	.	nonsynonymous SNV	ELANE:NM_001972:exon5:c.C770T:p.P257L	Neutropenia, cyclic, Autosomal dominant;Neutropenia, severe congenital 1, autosomal dominant, Autosomal dominant	0	1484	37	1	0	39	0.0129697	.	.	.	257299	Neutropenia,_severe_congenital,_1,_autosomal_dominant|Cyclical_neutropenia|Autoinflammatory_syndrome|not_provided|not_specified	MONDO:MONDO:0042490,MedGen:C1859966,OMIM:202700|Human_Phenotype_Ontology:HP:0040289,MONDO:MONDO:0008090,MedGen:C0221023,OMIM:162800,Orphanet:2686|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	.	0.0077	0.00519169	0.0060	0.0013	0.0064	0	0.0008	0.0081	0.0079	0.0057	0.0061448	950	154602	rs17216663	0.0076	0.0076	0.0075	0.0077	0.0107	0.0075	0.0074	0.0086	0.0082	0.0017	0.0083	0.0127	0	0.0012	0.0107	0.0084	0.0073	0.0056	0.0059	0.0059	0.0062	0.0055	0.0091	0.0055	0.0054	0.0085	0.0082	0.0013	0.0011	0.0088	0.0078	0	0.0008	0.0102	0.0091	0.0090	0.0064	0.008	0.58626	D	0.197	0.27855	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	0.979218	0.25197	N	1.385	0.34509	L	-2.47	0.88997	D	-0.97	0.25770	N	0.191	0.20925	-0.6932	0.60759	T	0.330	0.69792	T	9	0.0060737133	0.00136	T	.	.	.	0.122	0.33800	.	.	0.629560987919	0.62653	0.5437504112375167	0.54301	0.564959735949	0.52855	0.355158269405	0.18679	T	0.333962	0.70375	T	-0.329213	0.06171	T	-0.236273	0.51162	T	0.0222328351555962	0.00935	T	0.381362	0.09225	T	0.05828733	0.11709	0.09174262	0.21584	0.054917492	0.10601	0.0659258	0.13431	-4.083	0.25039	T	.	.	0.096	0.15206	B	.;.	.;.	1.513561	0.19439	14.26	0.90103442402545098	0.19385	0.10613	0.16070	N	AEFGBI	0.063733	0.12334	N	-0.993156792222934	0.08749	0.4114283	-1.01747891032933	0.09401	0.4675117	0.0713684615949456	0.15564	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.57	1.22	0.20300	0.526000	0.22680	1.601000	0.27583	0.473000	0.21965	0.001000	0.13787	0.016000	0.20520	0.027000	0.12703	0.0:0.6614:0.2123:0.1263	5.208	0.14623	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.005051	0.010870	0.011696	0.050000	0.008621	0.012195	0.007576	0.05263	3165.83	34	chr19	856130	.	C	T	3165.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.728;DP=839;ExcessHet=0.119;FS=2.316;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.167;SOR=0.854	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1415,0,1329	17	0	2	0
chr19	1783238	1783240	CTC	-	exonic	ATP8B3	.	nonframeshift deletion	ATP8B3:NM_001178002:exon29:c.3580_3582del:p.E1194del,ATP8B3:NM_138813:exon29:c.3691_3693del:p.E1231del	.	428	1093	1	0	0	1	0.000457247	.	.	.	728032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0033	0.00139776	0.0036	0.0007	0.0025	0	0.0016	0.0050	0.0025	0.0027	0.0001229	19	154602	rs530525816	0.0036	0.0036	0.0038	0.0034	0.0042	0.0035	0.0035	0.0041	0.0040	0.0005	0.0008	0.0018	0	0.0024	0.0009	0.0042	0.0028	0.0027	0.0031	0.0031	0.0035	0.0027	0.0054	0.0029	0.0028	0.0050	0.0048	0.0009	0.0055	0.0007	0.0026	0.0002	0.0013	0	0.0054	0.0019	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	844.29	34	chr19	1783237	.	TCTC	T	844.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.847;DP=716;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.928;SOR=0.96	GT:AD:DP:GQ:PL	0/1:34,23:57:99:858,0,1347	18	0	1	0
chr19	3586550	3586550	G	A	exonic	GIPC3	.	nonsynonymous SNV	GIPC3:NM_133261:exon2:c.G281A:p.G94D	Deafness, autosomal recessive 15, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0877042175025	.	.	8.294e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs763523474	4.789e-06	4.788e-06	0	9.627e-06	8.115e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.115e-05	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.928	0.66279	D	0.000001	0.62929	D	0.056535	1	0.81001	D	2.86	0.83026	M	1.09	0.39223	T	-6.06	0.89833	D	0.961	0.97095	-0.5492	0.66817	T	0.232	0.59769	T	10	0.84533453	0.83697	D	0.087704	0.74988	D	0.533	0.80367	0.488	0.57257	0.732692569738	0.73030	0.7609127667487245	0.76039	0.570962921086	0.53239	0.91954934597	0.98289	D	0.776253	0.94052	D	0.0925699	0.63476	D	0.0978477	0.76765	D	0.968733251094818	0.68345	D	0.979335	0.92822	D	0.7620805	0.81576	0.7554823	0.85549	0.8253348	0.85583	0.72306436	0.83646	-10.213	0.75176	D	0.5710614096716197	0.63824	0.991	0.93890	P	.;.;.	.;.;.	4.901981	0.80576	27.4	0.99842433930026941	0.92229	0.93448	0.58244	D	AEFDBCI	0.930975	0.91910	D	0.629642374605049	0.75056	6.239253	0.52264091410095	0.69518	5.371598	0.999999872149322	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	3.49	3.49	0.39065	7.422000	0.79413	11.504000	0.92975	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.085000	0.17524	0.0:0.0:1.0:0.0	13.763	0.62462	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	1732.33	39	chr19	3586550	.	G	A	1732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.77;DP=801;ExcessHet=0;FS=1.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.237;SOR=0.559	GT:AD:DP:GQ:PL	0/1:57,71:128:99:1746,0,2103	18	0	1	0
chr19	4504629	4504629	C	T	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon8:c.G3946A:p.V1316M	.	.	.	.	.	.	.	.	.	.	.	3572962	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.0935477666845	.	.	7.998e-05	0.0002	0.0002	0	0	4.07e-05	0	0.0002	4.53e-05	7	154602	rs776352514	2.893e-05	3.489e-05	2.467e-05	3.324e-05	0.0002	2.167e-05	1.921e-05	4.616e-05	3.399e-05	2.998e-05	6.781e-05	0	0	0	0.0002	2.432e-05	3.327e-05	9.362e-05	5.251e-05	5.249e-05	6.423e-05	4.027e-05	7.35e-05	2.555e-05	1.829e-05	2.846e-05	1.858e-05	2.405e-05	0	6.533e-05	0	0	0	0.0034	7.35e-05	0	0	0.022	0.48642	D	0.014	0.62352	D	0.994	0.66517	D	0.721	0.54900	P	0.047135	0.23373	U	0.206162	1	0.08975	N	2.4	0.69460	M	3.46	0.05249	T	-1.13	0.29114	N	0.152	0.15609	-1.0676	0.09948	T	0.023	0.09832	T	10	0.12052107	0.22829	T	0.093548	0.76093	D	0.077	0.22490	0.433	0.48336	0.126345400529	0.12197	0.14935576484284097	0.14857	.	.	0.479379832745	0.35971	T	0.011211	0.10028	T	-0.320239	0.06877	T	-0.442732	0.28504	T	0.310141682624817	0.25420	T	0.673733	0.28234	T	0.06854926	0.14943	0.07405836	0.16159	0.06854926	0.14943	0.07405836	0.16159	-4.579	0.31907	T	.	.	0.239	0.47338	B	.;.	.;.	0.735298	0.11045	7.700	0.99704919121124314	0.80936	0.06840	0.12865	N	AEFDBIJ	0.078525	0.15844	N	-0.189572106772311	0.33568	1.905866	-0.339620412258624	0.26832	1.484683	0.990648518426896	0.32222	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.714379	0.83352	0	.	.	4.45	3.36	0.37579	0.216000	0.17370	-3.401000	0.02815	0.549000	0.26987	0.006000	0.17386	0.000000	0.08366	0.005000	0.06747	0.1766:0.546:0.2775:0.0	6.180	0.19680	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	0.001013	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	779.33	33	chr19	4504629	.	C	T	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=2.8;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,32:72:99:793,0,969	18	0	1	0
chr19	5831623	5831623	G	T	exonic	FUT6	.	stopgain	FUT6:NM_001040701:exon2:c.C945A:p.Y315X,FUT6:NM_001381957:exon2:c.C945A:p.Y315X,FUT6:NM_000150:exon3:c.C945A:p.Y315X,FUT6:NM_001381955:exon3:c.C945A:p.Y315X,FUT6:NM_001381959:exon3:c.C945A:p.Y315X,FUT6:NM_001369502:exon4:c.C945A:p.Y315X,FUT6:NM_001369504:exon4:c.C945A:p.Y315X,FUT6:NM_001369505:exon4:c.C945A:p.Y315X,FUT6:NM_001381956:exon4:c.C945A:p.Y315X,FUT6:NM_001381958:exon5:c.C945A:p.Y315X	Fucosyltransferase 6 deficiency	2	1482	36	2	0	40	0.0133156	.	.	.	227409	not_provided|Fucosyltransferase_6_deficiency	MedGen:C3661900|MONDO:MONDO:0013462,MedGen:C3151219,OMIM:613852	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0056	0.0289537	0.0177	0.0033	0.0047	0.0690	0.0009	0.0068	0.0191	0.0595	0.0157566	2436	154602	rs145035679	0.0100	0.0100	0.0084	0.0115	0.0561	0.0098	0.0098	0.0548	0.0543	0.0022	0.0054	0.0253	0.0488	0.0011	0.0148	0.0050	0.0178	0.0561	0.0085	0.0085	0.0079	0.0090	0.0620	0.0081	0.0079	0.0565	0.0543	0.0031	0.0055	0.0063	0.0268	0.0620	0.0011	0	0.0052	0.0095	0.0531	.	.	.	.	.	.	.	.	.	.	.	.	0.000060	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.712	0.71498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23637	0.77319	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive|Recessive	.;.;.;.;High|High	7.770720	0.96845	36	0.99036869004821815	0.50939	0.95893	0.66609	D	AEFBI	0.105420	0.21064	N	0.295419678082104	0.55916	3.755734	-0.0017376384826292	0.39638	2.35322	0.891894201422631	0.25870	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	3.11	0.34883	2.739000	0.47083	1.247000	0.25145	0.595000	0.32841	0.997000	0.40164	0.999000	0.35428	0.086000	0.17578	0.0:0.0:1.0:0.0	12.435	0.54931	970	0.06235	.;.;.;.;.	.	.	.	.	.	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	0.015625	0.010101	0.020380	0.005848	0.000000	0.025862	0.003067	0.026515	0.07895	7924.79	34	chr19	5831623	.	G	T	7924.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1346;ExcessHet=0.3672;FS=1.108;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.19;MQRankSum=0.874;QD=13.3;ReadPosRankSum=0.378;SOR=0.609	GT:AD:DP:GQ:PL	0/1:94,67:161:99:1772,0,2699	16	0	3	0
chr19	7870949	7870954	CGGGGC	-	exonic	PRR36	.	nonframeshift deletion	PRR36:NM_001190467:exon5:c.2290_2295del:p.A764_P765del	.	430	1040	39	2	11	54	0.0202544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0	0	0	0	0.0072	0	0.05	0.0002689	7	26028	rs765354740	0.0024	0.0023	0.0019	0.0030	0.0194	0.0024	0.0023	0.0184	0.0180	0.0002	0.0014	0.0156	6.244e-05	0.0078	0.0037	0.0013	0.0039	0.0194	0.0033	0.0033	0.0033	0.0033	0.0150	0.0031	0.0030	0.0119	0.0108	0.0004	0.0025	0.0007	0.0207	0	0.0067	0.0043	0.0038	0.0027	0.0150	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3971.79	52	chr19	7870948	.	GCGGGGC	G	3971.79	.	AC=2;AF=0.053;AN=38;DP=1149;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.4;QD=26.3;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,63:73:69:0|1:7870948_GCGGGGC_G:2019,0,69:7870948	17	0	2	0
chr19	7870956	7871018	AGAGAAGGTAGGTTCTCCAGAGGGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGC	-	exonic	PRR36	.	nonframeshift deletion	PRR36:NM_001190467:exon5:c.2226_2288del:p.P743_L763del	.	429	1041	39	2	11	54	0.0202353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122	0	0	0	0.1429	0.0118	0	0.0588	0.0002689	7	26028	.	0.0025	0.0021	0.0019	0.0030	0.0190	0.0024	0.0024	0.0181	0.0177	0.0002	0.0012	0.0159	0	0.0078	0.0037	0.0013	0.0039	0.0190	0.0032	0.0032	0.0032	0.0033	0.0146	0.0030	0.0029	0.0116	0.0105	0.0004	0.0024	0.0006	0.0202	0	0.0059	0.0040	0.0038	0.0026	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3127.02	52	chr19	7870955	.	TAGAGAAGGTAGGTTCTCCAGAGGGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGC	T	3127.02	.	AC=2;AF=0.053;AN=38;DP=1165;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.46;QD=30.96;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,48:71:99:0|1:7870948_GCGGGGC_G:2001,0,265:7870948	17	0	2	0
chr19	8256251	8256251	G	C	exonic	CERS4	.	nonsynonymous SNV	CERS4:NM_024552:exon7:c.G484C:p.A162P	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00929333527146	.	0.000199681	0.0002	0	0.0001	0	0	1.721e-05	0	0.0015	0.0001552	24	154602	rs565095092	9.309e-05	9.371e-05	4.766e-05	0.0001	0.0014	8.03e-05	7.523e-05	0.0012	0.0011	0	0	0	0	0	0.0005	8.995e-07	0.0001	0.0014	7.226e-05	7.217e-05	6.426e-05	8.061e-05	0.0023	3.97e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.015	0.63226	D	0.019	0.60337	D	0.769	0.43848	P	0.359	0.43123	B	0.522822	0.11722	N	0.779605	0.999955	0.19072	N	0.205	0.09354	N	3.31	0.17271	T	-0.02	0.12283	N	0.273	0.32148	-0.9539	0.40292	T	0.012	0.04416	T	10	0.015107334	0.00317	T	0.009293	0.24389	T	0.116	0.32463	0.556	0.67409	0.0884992946249	0.08302	0.7357406102270367	0.73519	0.142740533334	0.16104	0.287986606359	0.08630	T	0.304788	0.68569	T	-0.478641	0.00753	T	-0.479325	0.24519	T	0.0401961919646046	0.03725	T	0.339666	0.09103	T	0.13597536	0.31539	0.17135295	0.39312	0.13597536	0.31539	0.17135295	0.39312	-2.685	0.07178	T	.	.	0.316	0.59589	B	.;.;.;.;.	.;.;.;.;.	1.520046	0.19514	14.30	0.86725493467557446	0.16730	0.52441	0.29132	D	AEFDGBI	0.301834	0.41025	N	-0.87128147114548	0.11529	0.5568806	-0.898567027845598	0.12128	0.6220548	0.117825502303009	0.16810	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.33	-0.334	0.12038	1.481000	0.35083	.	.	-0.124000	0.13482	0.935000	0.32453	0.175000	0.23375	0.071000	0.16709	0.5706:0.0:0.4294:0.0	7.634	0.27423	958	0.09170	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	723.33	34	chr19	8256251	.	G	C	723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.094;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.044;SOR=0.649	GT:AD:DP:GQ:PL	0/1:35,32:67:99:737,0,898	18	0	1	0
chr19	8858668	8858668	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon79:c.T43000C:p.Y14334H	.	430	1090	2	0	0	2	0.00091659	.	.	.	2815381	MUC16-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.331	0.0226019362404	0.0051	0.00199681	0.0046	0.0012	0.0012	0	0.0091	0.0066	0.0044	0.0013	0.0046248	715	154602	rs62118938	0.0074	0.0074	0.0075	0.0072	0.0088	0.0073	0.0072	0.0087	0.0086	0.0011	0.0018	7.652e-05	0	0.0090	0.0005	0.0088	0.0048	0.0014	0.0047	0.0047	0.0048	0.0045	0.0078	0.0044	0.0043	0.0073	0.0071	0.0015	0	0.0013	0	0	0.0085	0	0.0078	0.0010	0.0019	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.003961	0.34294	N	0.000000	0.999944	0.19238	N	.	.	.	0.62	0.53302	T	-3.1	0.63554	D	0.323	0.36359	-0.2345	0.76769	T	0.243	0.61142	T	8	0.011470199	0.00250	T	0.022602	0.45504	T	0.331	0.65325	.	.	0.367803931526	0.36392	0.6965198915845016	0.69592	.	.	0.568241715431	0.48428	T	.	.	.	-0.226214	0.17153	T	-0.0883222	0.64288	T	0.065587077198323	0.08017	T	0.625537	0.24174	T	.	.	.	.	.	.	.	.	-7.486	0.57512	T	.	.	0.401	0.59639	A	.	.	2.425733	0.31199	18.67	0.99715760319018154	0.81703	0.93448	0.58244	D	AEBI	0.375048	0.45972	N	0.336027040640786	0.58005	3.970544	0.172871590129873	0.48365	3.053489	0.0115656998357642	0.12204	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.3	4.3	0.50540	5.183000	0.64902	.	.	0.740000	0.86194	0.901000	0.31451	1.000000	0.68203	0.211000	0.22211	1.0:0.0:0.0:0.0	10.021	0.41216	958	0.09170	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.006793	0.005882	0.000000	0.000000	0.000000	0.007576	0.02632	1918.33	35	chr19	8858668	.	A	G	1918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.251;SOR=0.736	GT:AD:DP:GQ:PL	0/1:64,76:140:99:1932,0,1348	18	0	1	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	496.18	232	chr19	8882357	.	T	G	496.18	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.964;DP=3108;ExcessHet=0.119;FS=3.351;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.25;MQ=58.84;MQRankSum=-8.775;QD=1.52;ReadPosRankSum=0.557;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,20:198:99:0|1:8882357_T_G:305,0,7248:8882357	6	0	2	11
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	487.18	237	chr19	8882360	.	G	T	487.18	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-1.557;DP=3111;ExcessHet=0.119;FS=3.348;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.25;MQ=58.85;MQRankSum=-8.848;QD=1.48;ReadPosRankSum=1.04;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,20:199:99:0|1:8882357_T_G:302,0,7290:8882357	6	0	2	11
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|1:304,62:416:99:0|1:8888826_T_*:1690,0,12577:8888826	2	0	17	0
chr19	8888861	8888861	T	0	exonic	MUC16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	1385.08	336	chr19	8888861	.	T	*	1385.08	.	AC=2;AF=0.067;AN=30;BaseQRankSum=4.45;DP=5953;ExcessHet=1.3;FS=10.041;InbreedingCoeff=-0.2246;MLEAC=2;MLEAF=0.067;MQ=57.6;MQRankSum=-1.673;QD=0.89;ReadPosRankSum=4.75;SOR=2.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,24:320:99:0|1:8888745_G_C:117,0,12357:8888745	13	0	2	4
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|1:233,27:260:99:0|1:8900009_C_T:432,0,9671:8900009	5	0	14	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	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	0/1:130,16:146:99:281,0,5405	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	0/1:126,17:143:99:320,0,5232	11	0	8	0
chr19	9528504	9528504	G	A	exonic	ZNF426	.	nonsynonymous SNV	ZNF426:NM_001300883:exon6:c.C1427T:p.T476M,ZNF426:NM_001318055:exon7:c.C1208T:p.T403M,ZNF426:NM_024106:exon8:c.C1541T:p.T514M	.	.	.	.	.	.	.	.	.	.	.	2348594	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00114034923298	0.0002	0.000199681	0.0002	0.0005	0.0002	0.0003	0.0005	0.0002	0	6.058e-05	0.0002264	35	154602	rs200716581	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0004	0.0001	0	0.0003	0.0003	0.0005	0.0003	0.0002	0.0001	0.0003	0.0003	0.0004	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	0	0	0	0.0002	0.0005	0	0.0003	0	0	0.072	0.34982	T	0.046	0.49120	D	0.133	0.27236	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.935	0.23595	L	3.19	0.07353	T	-2.13	0.48354	N	0.115	0.10483	-1.0739	0.08577	T	0.017	0.06759	T	9	0.012172103	0.00263	T	0.00114	0.01410	T	0.030	0.07022	.	.	0.136095386433	0.13204	0.017866319776144675	0.01741	0.0935882458747	0.10573	0.286728322506	0.08448	T	0.222339	0.58616	T	-0.594683	0.00157	T	-0.737963	0.03977	T	0.00732710459435456	0.00084	T	0.0345215	0.00232	T	0.017885698	0.00312	0.051987767	0.08476	0.017885698	0.00312	0.051987767	0.08475	-6.432	0.49759	T	.	.	0.446	0.64559	A	.;.;.	.;.;.	0.226547	0.06082	2.526	0.8259042784037659	0.14271	0.00002	0.00064	N	AEFBHCI	0.029742	0.02864	N	-1.7917616591177	0.00565	0.02435963	-1.97596380803787	0.00344	0.01519354	0.181872071779767	0.17883	0.732398	0.92422	0	0.743671	0.97443	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	1.51	-3.01	0.05132	-14.778000	0.00000	.	.	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.2418:0.5253:0.2329:0.0	6.151	0.19527	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1911.33	38	chr19	9528504	.	G	A	1911.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.174;DP=800;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.71;SOR=0.701	GT:AD:DP:GQ:PL	0/1:89,75:164:99:1925,0,2265	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	0/1:63,23:86:23:23,0,1330	13	0	5	1
chr19	10351092	10351092	C	T	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385198:exon23:c.G3239A:p.R1080Q,TYK2:NM_001385199:exon23:c.G3203A:p.R1068Q,TYK2:NM_001385201:exon23:c.G3191A:p.R1064Q,TYK2:NM_001385200:exon24:c.G3386A:p.R1129Q,TYK2:NM_001385204:exon24:c.G3599A:p.R1200Q,TYK2:NM_001385205:exon24:c.G3299A:p.R1100Q,TYK2:NM_001385206:exon24:c.G3263A:p.R1088Q,TYK2:NM_001385207:exon24:c.G3371A:p.R1124Q,TYK2:NM_003331:exon24:c.G3389A:p.R1130Q,TYK2:NM_001385202:exon25:c.G3305A:p.R1102Q,TYK2:NM_001385203:exon25:c.G3470A:p.R1157Q	Immunodeficiency 35, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1952325	Immunodeficiency_35	MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.04087414089	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291092209	4.788e-06	4.788e-06	5.445e-06	4.125e-06	2.987e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.496e-06	1.656e-05	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	0.188	0.21304	T	0.32	0.19131	T	0.092	0.25296	B	0.017	0.18140	B	0.000288	0.46274	D	0.000000	0.576069	0.32334	D	0.57	0.15267	N	-1.63	0.82440	D	-0.52	0.16187	N	0.24	0.27077	-0.8388	0.52726	T	0.254	0.62383	T	10	0.1790511	0.33020	T	0.040874	0.59619	D	0.125	0.34456	0.35	0.34760	0.528561964389	0.52502	0.30397886774169053	0.30310	0.262614350035	0.28824	0.292206287384	0.09245	T	0.184575	0.53728	T	-0.117292	0.33568	T	-0.406259	0.32657	T	0.281880468130112	0.24250	T	0.882012	0.60217	D	0.20590441	0.42746	0.13614535	0.32578	0.20590441	0.42746	0.13614535	0.32577	-4.746	0.33956	T	.	.	0.067	0.02548	B	.;.;.	.;.;.	1.569874	0.20101	14.59	0.99569271378290214	0.72258	0.12503	0.17308	N	AEFDBI	0.089008	0.18043	N	-0.665240008371037	0.17017	0.8721537	-0.562790453667867	0.20466	1.10281	1.4815321410974E-5	0.02871	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.78	1.26	0.20534	-0.189000	0.09625	-0.011000	0.13060	0.526000	0.24426	0.000000	0.06391	0.001000	0.17328	0.972000	0.54974	0.1455:0.6189:0.0:0.2356	5.183	0.14497	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1450.33	35	chr19	10351092	.	C	T	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.6;DP=774;ExcessHet=0;FS=0.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.673;SOR=0.591	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1464,0,1274	18	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15365.4	34	chr19	12430730	.	A	*	15365.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.331;DP=3014;ExcessHet=1.1637;FS=3.239;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=58.32;MQRankSum=-4.846;QD=12.05;ReadPosRankSum=0.056;SOR=0.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,83:176:99:0|1:12430718_C_A:3149,0,3615:12430718	15	0	4	0
chr19	12526874	12526874	C	T	exonic	ZNF564	.	nonsynonymous SNV	ZNF564:NM_144976:exon4:c.G1234A:p.E412K	.	.	.	.	.	.	.	.	.	.	.	3361263	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00161903100458	.	.	0.0002	0	0.0014	0	0	1.498e-05	0	0.0002	0.0001358	21	154602	rs763823431	5.541e-05	5.541e-05	5.445e-05	5.638e-05	0.0008	4.543e-05	4.155e-05	0.0006	0.0005	2.987e-05	0.0008	0	0	0	0	1.169e-05	0	0.0003	6.573e-06	1.314e-05	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.338	0.12796	T	0.366	0.16668	T	0.854	0.47077	P	0.495	0.47504	P	.	.	.	.	0.991056	0.24088	N	0.12	0.08593	N	3.2	0.07236	T	-2.37	0.52289	N	0.081	0.05670	-0.9468	0.41515	T	0.018	0.07612	T	9	0.031281024	0.01262	T	0.001619	0.02625	T	0.069	0.20116	0.464	0.53404	0.261217442401	0.25729	0.09323893711520459	0.09255	0.504584776832	0.48730	.	.	.	0.206212	0.56549	T	-0.599776	0.00146	T	-0.697693	0.05953	T	0.105217287139781	0.12921	T	0.294771	0.05441	T	0.09496981	0.22339	0.11366093	0.27432	0.09496981	0.22339	0.11366093	0.27432	-6.6	0.51053	T	.	.	0.185	0.40098	B	.	.	2.333417	0.29897	18.27	0.99775161892799025	0.86260	0.00000	0.00017	N	AEFGBHCI	0.026130	0.01909	N	-0.397724000424994	0.25550	1.387776	-0.528310138579138	0.21386	1.156646	0.0122038908266278	0.12293	0.706548	0.73137	0	0.724815	0.89359	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	1.96	1.96	0.25203	0.001000	0.12940	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.5422:0.4577:0.0	7.614	0.27312	878	0.29785	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3044.33	35	chr19	12526874	.	C	T	3044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.982;DP=904;ExcessHet=0;FS=0.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.513;SOR=0.641	GT:AD:DP:GQ:PL	0/1:133,127:260:99:3058,0,3068	18	0	1	0
chr19	12954282	12954282	T	C	exonic	GADD45GIP1	.	nonsynonymous SNV	GADD45GIP1:NM_052850:exon2:c.A595G:p.K199E	.	418	1093	9	2	0	13	0.00591178	.	.	.	727913	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0009	0.00419329	0.0028	0.0003	0.0006	0	0	0.0015	0.0033	0.0137	0.0024903	385	154602	rs145414355	0.0018	0.0018	0.0015	0.0022	0.0140	0.0018	0.0018	0.0133	0.0130	0.0003	0.0009	0.0011	7.558e-05	1.872e-05	0.0047	0.0011	0.0021	0.0140	0.0016	0.0016	0.0013	0.0018	0.0172	0.0014	0.0013	0.0142	0.0131	0.0003	0	0.0030	0.0009	0	0	0.0034	0.0013	0.0019	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.013123	0.28942	N	0.341183	0.881393	0.28043	N	0.575	0.15311	N	.	.	.	1.05	0.01314	N	0.077	0.05162	-1.0044	0.28636	T	0.020	0.08453	T	9	0.0039177537	0.00075	T	.	.	.	0.047	0.12962	.	.	0.454518106513	0.45074	0.14724556037685593	0.14646	1.02440607633	0.75223	0.419444918633	0.27760	T	0.04082	0.25655	T	-0.583305	0.00184	T	-0.598977	0.12897	T	0.00895723556516004	0.00112	T	0.485951	0.14839	T	0.056462005	0.11112	0.05716752	0.10345	0.056462005	0.11112	0.05716752	0.10345	-3.856	0.21644	T	.	.	0.129	0.27553	B	.	.	1.445358	0.18657	13.85	0.82917178372435363	0.14444	0.66124	0.32970	D	AEFDGBHCI	0.098126	0.19779	N	-0.924937207054408	0.10261	0.4895015	-0.738075026482141	0.16016	0.8452361	0.999998625437814	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.04	1.37	0.21200	1.486000	0.35138	.	.	-0.114000	0.14653	1.000000	0.71638	0.997000	0.33255	0.197000	0.21808	0.0:0.193:0.4469:0.3601	3.733	0.08026	506	0.75555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006552	0.000000	0.000000	0.000000	0.000000	0.008621	0.015337	0.011364	0.02632	266.33	33	chr19	12954282	.	T	C	266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=664;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-0.416;SOR=0.728	GT:AD:DP:GQ:PL	0/1:26,11:37:99:280,0,762	18	0	1	0
chr19	13135796	13135796	G	A	exonic	NACC1	.	nonsynonymous SNV	NACC1:NM_052876:exon2:c.G589A:p.G197S	.	420	1093	9	0	0	9	0.00410023	.	.	.	1651871	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.025	.	.	0.00738818	0.0193	0	0.0086	0	0	0	0	0.0400	0.0032988	510	154602	rs544132868	0.0022	0.0023	0.0012	0.0033	0.0366	0.0022	0.0021	0.0355	0.0350	0.0003	8.346e-05	3.972e-05	5.398e-05	0	0.0009	4.984e-05	0.0022	0.0366	0.0013	0.0013	0.0007	0.0020	0.0370	0.0012	0.0011	0.0326	0.0309	0.0004	0	0.0002	0	0	0	0	0	0	0.0370	0.563	0.06322	T	0.522	0.10391	T	0.002	0.09854	B	0.002	0.06944	B	0.970501	0.07775	N	1.013450	1	0.08975	N	0.55	0.14455	N	0.5	0.55608	T	-0.33	0.12472	N	0.107	0.09207	-0.9918	0.32141	T	0.062	0.25958	T	10	0.002429098	0.00036	T	.	.	.	0.025	0.05312	.	.	0.387475297304	0.38358	0.33872555631054485	0.33785	1.2172405034	0.81004	0.627360582352	0.56771	T	0.263764	0.63547	T	-0.608695	0.00129	T	-0.620665	0.11133	T	0.0148212602182175	0.00312	T	0.565643	0.19997	T	0.016871793	0.00228	0.035768565	0.02892	0.017642083	0.00290	0.035768565	0.02892	-3.941	0.22918	T	0.1760955156202523	0.22453	0.071	0.03887	B	.	.	-0.244243	0.02871	0.408	0.61029627525546448	0.06608	0.07540	0.13553	N	AEFBCI	0.063737	0.12337	N	-1.70913904861472	0.00810	0.03501118	-1.71789821543319	0.01060	0.04759748	0.967613190125758	0.28990	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.77	-5.03	0.02751	-0.330000	0.07968	0.283000	0.16788	-0.128000	0.13240	0.002000	0.15269	0.014000	0.20376	0.153000	0.20410	0.6761:0.0:0.3239:0.0	12.193	0.53594	755	0.51144	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004654	0.000000	0.002817	0.002941	0.000000	0.000000	0.003205	0.015267	0.02632	496.33	33	chr19	13135796	.	G	A	496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.389;DP=739;ExcessHet=0;FS=3.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.503;SOR=0.68	GT:AD:DP:GQ:PL	0/1:39,24:63:99:510,0,953	18	0	1	0
chr19	14089318	14089318	A	T	exonic	SAMD1	.	nonsynonymous SNV	SAMD1:NM_138352:exon3:c.T681A:p.D227E	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0003	0.00459265	0.0065	0.0004	0	0	0.0015	0.0009	0.0045	0.0165	0.0013971	216	154602	rs369660618	0.0016	0.0015	0.0011	0.0021	0.0184	0.0015	0.0015	0.0176	0.0173	0.0002	0.0003	0.0001	0.0002	0.0002	0.0005	0.0005	0.0018	0.0184	0.0010	0.0010	0.0007	0.0013	0.0175	0.0009	0.0008	0.0145	0.0133	0.0002	0	0.0005	0.0003	0.0004	0.0002	0	0.0007	0.0009	0.0175	0.597	0.05686	T	0.201	0.27503	T	0.0	0.02946	B	0.0	0.01387	B	0.154552	0.02990	N	1.811230	1	0.08975	N	.	.	.	0.99	0.41750	T	0.05	0.06369	N	0.145	0.14622	-1.0320	0.19809	T	0.031	0.13286	T	10	0.0026105046	0.00040	T	.	.	.	0.065	0.18881	0.137	0.04097	0.32053947749	0.31673	0.03406583485395391	0.03354	0.061667197177	0.06870	0.627045929432	0.56726	T	0.002252	0.01652	T	-0.606021	0.00134	T	-0.627689	0.10591	T	0.00146727011949763	0.00015	T	0.316968	0.06317	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02861	B	.	.	-1.769472	0.00168	0.002	0.67428741069162867	0.08352	0.00501	0.02358	N	AEFDGBI	0.039665	0.05794	N	-1.85456986108748	0.00425	0.01827626	-1.92910683814722	0.00428	0.01894802	0.99999999982022	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.651492	0.60203	0	.	.	3.0	-5.99	0.02028	-2.109000	0.01422	.	.	-0.555000	0.04881	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.4119:0.3026:0.1188:0.1668	1.422	0.02176	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004745	0.000000	0.005245	0.003185	0.000000	0.011364	0.000000	0.009009	0.02632	1009.33	33	chr19	14089318	.	A	T	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.48;DP=753;ExcessHet=0;FS=0.9;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.926;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,35:71:99:0|1:14089297_T_C:1023,0,849:14089297	18	0	1	0
chr19	14482811	14482811	G	A	exonic	GIPC1	.	nonsynonymous SNV	GIPC1:NM_202470:exon2:c.C166T:p.P56S,GIPC1:NM_202468:exon3:c.C166T:p.P56S,GIPC1:NM_005716:exon4:c.C166T:p.P56S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.201137548556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.387e-06	2.052e-06	0	2.792e-06	2.371e-05	2.3e-07	9e-08	3.94e-06	1.47e-06	0	0	0	0	0	0	0	0	2.371e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.1	0.38742	T	0.993	0.65571	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.69	0.43327	L	-1.57	0.81900	D	-4.22	0.75854	D	0.422	0.46180	0.399	0.89080	D	0.685	0.89107	D	10	0.53529	0.63412	D	0.201138	0.86747	D	0.483	0.77271	0.275	0.22687	0.945584690558	0.94501	0.5893846311344416	0.58868	0.741965471771	0.63314	0.872856259346	0.92974	D	0.523922	0.83402	D	0.164577	0.70624	D	-0.00137364	0.70247	D	0.992032766342163	0.82423	D	0.889211	0.62120	D	0.29329553	0.52298	0.33484784	0.59305	0.29329553	0.52298	0.33484784	0.59305	-11.846	0.84092	D	.	.	0.812	0.77859	P	.;.;.	.;.;.	5.121155	0.85661	28.7	0.9991995041674836	0.98654	0.98701	0.85758	D	AEFBI	0.801952	0.72752	D	0.712495326209224	0.80450	7.297235	0.66885049860225	0.80021	7.207316	0.999991531692891	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	6.920000	0.75619	.	.	0.571000	0.28931	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.330	0.73907	964	0.07719	.;.;.	.	.	.	.	.	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	1285.33	34	chr19	14482811	.	G	A	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.362;DP=717;ExcessHet=0;FS=0.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0.063;SOR=0.838	GT:AD:DP:GQ:PL	0/1:27,51:78:99:1299,0,630	18	0	1	0
chr19	15113646	15113646	C	T	exonic	SYDE1	.	nonsynonymous SNV	SYDE1:NM_001300910:exon8:c.C1690T:p.P564S,SYDE1:NM_033025:exon8:c.C1891T:p.P631S	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0162308620455	.	0.000199681	0.0005	0	8.678e-05	0	0	0	0.0011	0.0035	0.0003752	58	154602	rs562227676	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0	5.399e-06	0.0001	0.0033	7.22e-05	7.217e-05	5.138e-05	9.395e-05	0.0021	3.967e-05	3.124e-05	0.0011	0.0009	0	0	0	0	0	9.409e-05	0	0	0	0.0021	0.355	0.12109	T	0.769	0.04492	T	0.264	0.35330	B	0.119	0.32162	B	0.074926	0.21254	N	0.445339	0.824424	0.28841	N	1.5	0.37844	L	1.12	0.38718	T	0.14	0.05405	N	0.051	0.02559	-1.0653	0.10479	T	0.063	0.26029	T	10	0.004817724	0.00102	T	0.016231	0.37384	T	0.057	0.16321	0.121	0.02793	0.082315109003	0.07666	0.4865272323721326	0.48572	0.467273448873	0.46111	0.493016570807	0.37857	T	0.00119	0.03897	T	-0.532009	0.00374	T	-0.539707	0.18325	T	0.036257646411959	0.03025	T	0.684232	0.29249	T	0.0542301	0.10375	0.06812593	0.14186	0.0542301	0.10375	0.06812593	0.14186	-4.794	0.34521	T	.	.	0.086	0.12465	B	.;.;.	.;.;.	1.613202	0.20610	14.83	0.97430068564943484	0.33921	0.45507	0.27554	N	AEFDBHCI	0.280223	0.39409	N	-0.447378893715291	0.23828	1.282433	-0.368026960017951	0.25956	1.430679	0.999998635112124	0.74766	0.460665	0.09802	0	0.514364	0.08380	0	0.465395	0.07113	1	0.636168	0.56350	0	.	.	5.52	4.49	0.54177	0.536000	0.22838	.	.	0.549000	0.26987	0.000000	0.06391	0.972000	0.29809	0.122000	0.19250	0.0:0.9041:0.0:0.0959	9.289	0.36936	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1830.33	34	chr19	15113646	.	C	T	1830.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.376;DP=781;ExcessHet=0;FS=1.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.074;SOR=0.569	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1844,0,1640	18	0	1	0
chr19	15439120	15439125	TCCTCC	-	exonic	WIZ	.	nonframeshift deletion	WIZ:NM_001371589:exon4:c.1869_1874del:p.E623_E624del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0	0	0	0	0	0	0.0031	3.84e-05	1	26028	rs760088889	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0023	0.0003	6.418e-05	0	0	0	0	4.698e-05	0.0001	0.0028	0.0001	0.0001	0.0001	0.0001	0.0013	8.811e-05	7.375e-05	0.0006	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	220.4	7	chr19	15439119	.	ATCCTCC	A	220.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.278;DP=233;ExcessHet=0;FS=0;InbreedingCoeff=-0.0338;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=0.618;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,6:12:99:0|1:15439119_ATCCTCC_A:234,0,234:15439119	18	0	1	0
chr19	17058578	17058578	G	A	exonic	HAUS8	.	nonsynonymous SNV	HAUS8:NM_001011699:exon8:c.C613T:p.R205W,HAUS8:NM_033417:exon8:c.C616T:p.R206W	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.105471619358	7.7e-05	.	0.0004	0	8.654e-05	0	0	9.053e-05	0.0033	0.0026	0.0003493	54	154602	rs376846602	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	6.073e-05	2.326e-05	0	0.0003	3.748e-05	0.0007	5.406e-05	0.0002	0.0025	0.0001	0.0001	8.992e-05	0.0002	0.0012	8.16e-05	6.718e-05	0.0005	0.0004	2.405e-05	0	6.534e-05	0	0.0004	0	0	0.0001	0	0.0012	0.004	0.65419	D	0.006	0.72224	D	0.999	0.77913	D	0.861	0.61279	P	0.602356	0.05654	N	1.252920	1	0.08975	N	2.175	0.60977	M	-1.06	0.76819	T	-4.3	0.76496	D	0.325	0.36674	-0.6459	0.62891	T	0.456	0.78790	T	10	0.020490438	0.00473	T	0.105472	0.78060	D	0.207	0.49555	.	.	0.631108546269	0.62809	0.33685896144421573	0.33598	0.533401914816	0.50776	0.257281839848	0.04573	T	0.176554	0.52654	T	-0.329331	0.06162	T	-0.251075	0.49712	T	0.119979424492533	0.14429	T	0.80172	0.44963	T	0.116983294	0.27585	0.10972049	0.26447	0.116983294	0.27584	0.10972049	0.26446	-6.693	0.51758	T	.	.	0.144	0.31633	B	.;.;.	.;.;.	3.380284	0.46749	22.3	0.99680808474055937	0.79241	0.14886	0.18636	N	AEFDBI	0.081062	0.16399	N	-0.31722116117719	0.28494	1.572091	-0.544681170248329	0.20947	1.130906	0.387186028944126	0.20013	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	4.34	0.666	0.17071	0.751000	0.26013	1.846000	0.29223	0.676000	0.76740	0.002000	0.15269	0.011000	0.20116	0.002000	0.04165	0.0995:0.0:0.5266:0.3739	5.503	0.16131	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002028	0.010204	0.000000	0.000000	0.000000	0.000000	0.003086	0.003817	0.02632	1310.33	34	chr19	17058578	.	G	A	1310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.292;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.099;SOR=0.648	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1324,0,1215	18	0	1	0
chr19	17286647	17286647	-	GT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1726_1727insGT:p.L591Vfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235741244	0.0022	0.0034	0.0021	0.0024	0.0649	0.0022	0.0021	0.0624	0.0614	0.0030	0.0042	4.463e-05	0.0649	0.0036	0.0008	0.0003	0.0025	0.0046	0.0082	0.0095	0.0076	0.0088	0.0986	0.0078	0.0076	0.0911	0.0881	0.0090	0	0.0091	0.0003	0.0986	0.0059	0	0.0019	0.0061	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2380.99	33	chr19	17286647	.	G	GGT	2380.99	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=1028;ExcessHet=4.0268;FS=0.483;InbreedingCoeff=-0.2666;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.257;SOR=0.754	GT:AD:DP:GQ:PL	0/1:19,14:37:99:281,0,443	18	0	1	0
chr19	17834887	17834887	C	T	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon16:c.G2164A:p.V722I	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	1	1437	82	2	0	86	0.0290541	.	.	.	138312	not_provided|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_specified|JAK3-related_disorder	MedGen:C3661900|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:CN169374|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0095	0.00359425	0.0086	0.0023	0.0041	0	0.0035	0.0130	0.0077	0.0051	0.0085769	1326	154602	rs3213409	0.0100	0.0100	0.0099	0.0101	0.0229	0.0099	0.0098	0.0197	0.0185	0.0026	0.0057	0.0260	2.519e-05	0.0047	0.0229	0.0109	0.0095	0.0053	0.0075	0.0075	0.0082	0.0068	0.0115	0.0071	0.0070	0.0109	0.0106	0.0018	0	0.0069	0.0262	0	0.0033	0.0068	0.0115	0.0076	0.0064	0.029	0.47320	D	0.067	0.44302	T	0.001	0.07471	B	0.004	0.10090	B	0.243360	0.15664	N	0.618726	1	0.08975	N	0.49	0.13296	N	0.06	0.61798	T	-0.8	0.22294	N	0.032	0.01135	-1.0145	0.25497	T	0.085	0.33241	T	10	0.0028762817	0.00046	T	.	.	.	0.156	0.40720	.	.	0.348454897831	0.34454	0.5311442961215286	0.53038	0.391737070457	0.40370	0.366400837898	0.20314	T	0.405752	0.76185	T	-0.531877	0.00374	T	-0.526393	0.19648	T	0.0164766271593883	0.00412	T	0.564843	0.19943	T	0.048163924	0.08350	0.051704865	0.08375	0.048167907	0.08353	0.05393384	0.09178	-6.642	0.51825	T	0.11864946227562068	0.10969	0.071	0.03849	B	.;.;.	.;.;.	1.612184	0.20598	14.82	0.97845570022248962	0.36358	0.23033	0.21944	N	AEFBCI	0.110569	0.21921	N	-0.961122929809512	0.09444	0.4470025	-0.986255251364803	0.10093	0.5062114	0.696009353993551	0.22642	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.550183	0.17644	0	.	.	4.89	0.248	0.14786	3.042000	0.49504	0.717000	0.20982	0.524000	0.24156	0.175000	0.24000	0.000000	0.08366	0.013000	0.09966	0.0:0.6163:0.0:0.3837	7.741	0.28004	964	0.07719	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	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	0.017120	0.005051	0.017663	0.011696	0.050000	0.017241	0.027439	0.018939	0.02632	2392.33	33	chr19	17834887	.	C	T	2392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=827;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.121;SOR=0.767	GT:AD:DP:GQ:PL	0/1:100,92:192:99:2406,0,2492	18	0	1	0
chr19	18450641	18450641	G	A	exonic	ELL	.	nonsynonymous SNV	ELL:NM_006532:exon8:c.C1301T:p.A434V	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.012072185136	.	.	0.0003	0	0	0	0	0	0	0.0017	0.0001682	26	154602	rs760965737	0.0001	0.0001	7.668e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0	2.527e-05	6.672e-05	0.0021	5.915e-05	5.91e-05	2.569e-05	9.418e-05	0.0019	3.078e-05	2.21e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.309	0.14064	T	0.487	0.11656	T	0.335	0.33330	B	0.058	0.26451	B	0.185227	0.16994	N	0.588024	0.922146	0.27267	N	2.175	0.60977	M	1.92	0.23082	T	-0.81	0.22294	N	0.127	0.12198	-1.0711	0.09173	T	0.042	0.17869	T	10	0.01392439	0.00294	T	0.012072	0.30309	T	0.055	0.15663	0.082	0.00727	0.488693090275	0.48504	0.20432487324520182	0.20349	0.0183877885391	0.01795	0.37663847208	0.21779	T	0.106225	0.41739	T	-0.589227	0.00169	T	-0.638174	0.09802	T	0.149830295363012	0.17090	T	0.858514	0.56401	D	0.063443564	0.13360	0.0630797	0.12441	0.063443564	0.13359	0.0630797	0.12441	-4.693	0.33319	T	.	.	0.076	0.10352	B	.;.	.;.	2.717064	0.35533	19.92	0.99276404084130554	0.57730	0.98353	0.81919	D	AEFBI	0.450422	0.50483	N	-0.275565097894712	0.30094	1.674904	-0.207479874429191	0.31266	1.767865	0.999998930679806	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.58	3.55	0.39770	6.568000	0.73878	4.343000	0.43064	0.665000	0.62972	1.000000	0.71638	0.989000	0.31174	0.538000	0.29892	0.0868:0.0:0.9132:0.0	11.422	0.49232	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	.	.	.	.	.	.	.	.	0.02632	1776.33	35	chr19	18450641	.	G	A	1776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.561;DP=773;ExcessHet=0;FS=2.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.091;SOR=0.768	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1790,0,1957	18	0	1	0
chr19	18879021	18879021	C	T	exonic	CERS1	.	nonsynonymous SNV	CERS1:NM_001290265:exon6:c.G625A:p.A209T,CERS1:NM_021267:exon6:c.G919A:p.A307T,CERS1:NM_198207:exon6:c.G919A:p.A307T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0196595288646	.	.	8.416e-06	0	0	0	0	0	0	6.136e-05	6.5e-06	1	154602	rs758095932	1.369e-06	2.052e-06	0	2.751e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.264	0.22761	T	0.698	0.41805	P	0.115	0.31843	B	.	.	.	.	0.954745	0.81001	D	2.075	0.57047	M	1.53	0.42502	T	-0.85	0.23156	N	0.213	0.23758	-1.0614	0.11410	T	0.073	0.29643	T	9	0.14758077	0.27961	T	0.01966	0.42079	T	0.061	0.17616	0.5	0.59147	0.303123707472	0.29912	.	.	.	.	0.432394444942	0.29536	T	0.372092	0.73634	T	-0.201202	0.20631	T	-0.429935	0.29942	T	0.3365638256073	0.26487	T	0.79532	0.43818	T	0.11170479	0.26396	0.13235529	0.31763	0.11170479	0.26396	0.13235529	0.31762	-5.97	0.46028	T	0.3404751002994684	0.43822	0.092	0.16713	B	.;.;.	.;.;.	2.190257	0.27925	17.63	0.9915434336111898	0.53903	0.79961	0.39730	D	AEFDGBCI	0.356462	0.44783	N	-0.149591845619403	0.35253	2.022478	-0.142709571675024	0.33690	1.929768	0.161030377555925	0.17593	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.579976	0.35079	0	.	.	3.59	3.59	0.40253	2.823000	0.47781	0.872000	0.22321	0.544000	0.25403	0.853000	0.30494	0.327000	0.24354	0.618000	0.31844	0.0:1.0:0.0:0.0	12.695	0.56367	923	0.18507	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1003.33	33	chr19	18879021	.	C	T	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.692;DP=716;ExcessHet=0;FS=3.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.62;SOR=1.142	GT:AD:DP:GQ:PL	0/1:42,37:79:99:1017,0,1072	18	0	1	0
chr19	19635648	19635648	G	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_016573:exon14:c.C1401A:p.D467E	.	406	1080	35	1	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0010	0.00519169	0.0048	9.61e-05	0.0009	0.0002	0.0012	0.0018	0.0077	0.0261	0.0041849	647	154602	rs141198269	0.0026	0.0026	0.0018	0.0033	0.0247	0.0025	0.0025	0.0238	0.0235	2.987e-05	0.0010	0.0076	5.038e-05	0.0009	0.0080	0.0010	0.0030	0.0247	0.0017	0.0017	0.0013	0.0021	0.0222	0.0015	0.0014	0.0188	0.0175	0.0002	0	0.0012	0.0072	0	0.0009	0.0034	0.0012	0.0014	0.0222	0.75	0.03587	T	0.0	0.92824	D	0.998	0.73220	D	0.899	0.63802	P	0.000916	0.41128	D	0.000000	0.964895	0.81001	D	1.475	0.37068	L	2.06	0.20523	T	-0.79	0.21860	N	0.067	0.03956	-1.0170	0.24690	T	0.045	0.19356	T	10	0.006407529	0.00145	T	.	.	.	0.102	0.29158	0.187	0.09646	0.404733080969	0.40085	0.3468900445969443	0.34603	0.873673126028	0.69486	0.513045012951	0.40648	T	0.029571	0.21161	T	-0.584628	0.00181	T	-0.59363	0.13354	T	0.0327127017805036	0.02424	T	0.534247	0.17838	T	0.06920902	0.15142	0.03692319	0.03239	0.06920902	0.15142	0.03692319	0.03238	-1.025	0.01027	T	.	.	0.133	0.28721	B	.	.	2.211830	0.28218	17.72	0.98102960630547464	0.38286	0.44499	0.27332	N	AEFDBCI	0.058329	0.10935	N	-0.124031639927003	0.36347	2.099781	-0.153208107527142	0.33286	1.902394	0.998886779435873	0.37891	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	0.513	0.16200	0.252000	0.18046	.	.	0.672000	0.70159	0.997000	0.40164	0.999000	0.35428	0.998000	0.85391	0.3952:0.0:0.6048:0.0	7.225	0.25183	437	0.80299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.002717	0.005848	0.000000	0.008621	0.006098	0.022727	0.02632	1214.33	35	chr19	19635648	.	G	T	1214.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.082;DP=804;ExcessHet=0;FS=3.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.279;SOR=0.389	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1228,0,1171	18	0	1	0
chr19	23360782	23360782	T	C	exonic	ZNF91	.	nonsynonymous SNV	ZNF91:NM_001300951:exon3:c.A2101G:p.K701E,ZNF91:NM_003430:exon4:c.A2197G:p.K733E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00222926462638	.	.	6.689e-05	0	0	0	0	5.272e-05	0.0012	0.0002	3.84e-05	1	26028	rs759791216	5.544e-05	5.541e-05	5.721e-05	5.366e-05	0.0001	4.546e-05	4.158e-05	7.126e-05	5.483e-05	0	0	0	0	0	0	6.298e-05	0	0.0001	1.973e-05	1.971e-05	2.572e-05	1.345e-05	2.941e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.181	0.34621	T	0.069	0.43913	T	0.494	0.37037	P	0.125	0.32635	B	.	.	.	.	1	0.08975	N	0.12	0.08593	N	0.73	0.50721	T	-1.52	0.40660	N	0.075	0.07949	-1.0517	0.13926	T	0.055	0.23375	T	9	0.07001716	0.10126	T	0.002229	0.04233	T	0.031	0.07369	.	.	0.315903272564	0.31202	0.022374612183570203	0.02189	0.920550017077	0.71431	0.26968345046	0.06099	T	0.001648	0.01075	T	-0.430996	0.01462	T	-0.577437	0.14774	T	0.0442355711820356	0.04463	T	0.594141	0.21965	T	0.06445709	0.13678	0.058007065	0.10646	0.06445709	0.13677	0.058007065	0.10646	-8.967	0.68184	D	.	.	0.189	0.40730	B	.;.	.;.	1.425993	0.18436	13.73	0.69487844440258073	0.08988	0.01867	0.05758	N	AEFGBCI	0.032753	0.03759	N	-1.19665176261869	0.05050	0.2293487	-1.37639870463612	0.03505	0.1636344	3.8009810718173E-4	0.06745	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	1.71	-3.43	0.04507	-0.243000	0.08933	.	.	0.304000	0.19002	0.007000	0.17678	0.000000	0.08366	0.004000	0.06068	0.1654:0.1704:0.4131:0.2511	1.146	0.01667	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1706.33	33	chr19	23360782	.	T	C	1706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.16;DP=1580;ExcessHet=0;FS=2.149;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.45;MQRankSum=-0.96;QD=12.45;ReadPosRankSum=-0.093;SOR=0.579	GT:AD:DP:GQ:PL	0/1:72,65:137:99:1720,0,1796	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	0/1:142,26:168:99:142,0,3860	13	0	6	0
chr19	34196655	34196655	T	C	exonic	LSM14A	.	nonsynonymous SNV	LSM14A:NM_001114093:exon3:c.T307C:p.S103P,LSM14A:NM_001384420:exon3:c.T307C:p.S103P,LSM14A:NM_001384421:exon3:c.T307C:p.S103P,LSM14A:NM_001384423:exon3:c.T307C:p.S103P,LSM14A:NM_001384424:exon3:c.T307C:p.S103P,LSM14A:NM_001384425:exon3:c.T307C:p.S103P,LSM14A:NM_001384426:exon3:c.T307C:p.S103P,LSM14A:NM_001384427:exon3:c.T307C:p.S103P,LSM14A:NM_001384428:exon3:c.T307C:p.S103P,LSM14A:NM_001384429:exon3:c.T307C:p.S103P,LSM14A:NM_001384430:exon3:c.T25C:p.S9P,LSM14A:NM_001384435:exon3:c.T307C:p.S103P,LSM14A:NM_001384436:exon3:c.T307C:p.S103P,LSM14A:NM_015578:exon3:c.T307C:p.S103P	.	436	1063	22	1	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0039	0.00299521	0.0037	0.0002	0.0018	0.0001	0.0009	0.0040	0.0022	0.0088	0.0037968	587	154602	rs149170773	0.0050	0.0050	0.0049	0.0050	0.0095	0.0049	0.0048	0.0090	0.0088	0.0007	0.0013	0.0034	7.58e-05	0.0007	0.0044	0.0053	0.0047	0.0095	0.0033	0.0033	0.0034	0.0032	0.0109	0.0031	0.0030	0.0085	0.0077	0.0009	0.0022	0.0016	0.0029	0.0002	0.0007	0	0.0053	0.0024	0.0109	0.075	0.35165	T	0.318	0.22223	T	0.006	0.61912	B	0.009	0.70027	B	0.000060	0.53742	D	0.171191	0.999982	0.58761	D	2.24	0.63355	M	1.56	0.46777	T	-2.07	0.51157	N	0.368	0.40963	-0.9647	0.38270	T	0.123	0.42505	T	10	0.008370787	0.00190	T	.	.	.	0.089	0.25827	.	.	0.488687234069	0.48499	0.45877763395615406	0.45795	1.51235230355	0.87267	0.583367943764	0.50560	T	0.012023	0.12415	T	-0.471249	0.00835	T	-0.442302	0.28552	T	0.0700592920184135	0.08660	T	0.887811	0.61653	D	0.3325327	0.55677	0.46197814	0.68760	0.3325327	0.55677	0.46197814	0.68760	-4.892	0.40003	T	.	.	0.121	0.30765	B	.;.;.;.	.;.;.;.	3.321970	0.45692	22.2	0.99853812900237782	0.93279	0.90422	0.51585	D	AEFGBI	0.546051	0.56031	D	0.100066636690499	0.46465	2.886484	0.184242584179069	0.48982	3.107181	0.999456602423443	0.39788	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.477000	0.35039	6.020000	0.52779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.324	0.73856	943	0.12886	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005061	0.000000	0.000000	0.008824	0.000000	0.008621	0.009434	0.011364	0.05263	2255.83	43	chr19	34196655	.	T	C	2255.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.31;DP=835;ExcessHet=0.119;FS=0.494;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.7;SOR=0.638	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1037,0,1410	17	0	2	0
chr19	36762310	36762310	G	A	exonic	ZNF850	.	nonsynonymous SNV	ZNF850:NM_001193552:exon3:c.C134T:p.S45L,ZNF850:NM_001267779:exon3:c.C134T:p.S45L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00125729620429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.101e-07	2.052e-06	1.408e-06	0	9.142e-07	0	0	.	.	0	0	0	0	0	0	9.142e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52727	D	0.975	0.58077	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	2.835	0.82492	M	4.08	0.03003	T	.	.	.	0.255	0.31027	.	.	.	.	.	.	.	0.15395606	0.29049	T	0.001257	0.01708	T	.	.	.	.	0.0954503805726	0.09146	0.0572069978998897	0.05661	0.690501490148	0.60534	0.406276941299	0.25941	T	0.040147	0.25430	T	-0.149755	0.28349	T	-0.452889	0.27377	T	.	.	.	0.772923	0.40417	T	0.044171363	0.07014	0.10686608	0.25717	0.044171363	0.07013	0.10686608	0.25716	-6.678	0.51644	T	.	.	0.119	0.26419	B	.;.;.	.;.;.	1.330679	0.17359	13.12	0.46021010815364044	0.03655	0.00465	0.02234	N	AEFBI	0.019528	0.00687	N	.	.	.	.	.	.	2.67496522755551E-5	0.03498	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	1.61	-2.69	0.05668	-0.596000	0.05816	.	.	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.4588:0.0:0.5412:0.0	5.635	0.16807	596	0.68392	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	554.33	39	chr19	36762310	.	G	A	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.201;DP=712;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=0.572;SOR=1.112	GT:AD:DP:GQ:PL	0/1:49,25:74:99:568,0,1243	18	0	1	0
chr19	36996783	36996783	G	T	exonic	ZNF568	.	nonsynonymous SNV	ZNF568:NM_001204839:exon9:c.G900T:p.E300D,ZNF568:NM_001204838:exon10:c.G1092T:p.E364D	.	408	1099	15	0	0	15	0.00677813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	.	0.00219649	0.0038	0	0	0	0	0.0010	0.0039	0.0091	0.0006468	100	154602	rs368808353	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0064	0.0062	3.136e-05	2.684e-05	0	0	0	0.0047	4.14e-05	0.0006	0.0068	0.0004	0.0004	0.0002	0.0005	0.0087	0.0003	0.0003	0.0066	0.0059	0.0001	0	6.537e-05	0	0	0	0.0034	8.82e-05	0.0005	0.0087	0.032	0.59928	D	0.059	0.50226	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.34	0.34841	T	-2.5	0.54382	D	0.289	0.32701	-0.9974	0.30646	T	0.054	0.22959	T	9	0.0076031685	0.00173	T	.	.	.	0.024	0.04979	0.436	0.48828	0.222439326576	0.21863	.	.	.	.	.	.	.	0.145526	0.48270	T	-0.577846	0.00199	T	-0.598387	0.12946	T	0.0174229739702288	0.00479	T	0.458954	0.22079	T	.	.	.	.	.	.	.	.	-6.517	0.50417	T	.	.	0.197	0.41888	B	.;.;.;.	.;.;.;.	1.896361	0.24088	16.26	0.99229740973864811	0.56183	0.63508	0.32111	D	AEFDBI	0.098480	0.19843	N	-0.861031160865464	0.11779	0.5703684	-0.860440285229182	0.13037	0.6740883	0.00204830577385185	0.09112	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.89	-1.13	0.09274	-0.062000	0.11631	.	.	-0.976000	0.01917	0.489000	0.26871	0.000000	0.08366	0.000000	0.00833	0.189:0.1481:0.5117:0.1512	2.407	0.04146	662	0.61715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1600.33	95	chr19	36996783	.	G	T	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.756;DP=1594;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-1.344;SOR=0.818	GT:AD:DP:GQ:PL	0/1:40,63:103:99:1614,0,1076	18	0	1	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,32:122:99:0|1:37887095_C_T:456,0,3084:37887095	5	0	9	5
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|1:90,32:122:99:0|1:37887095_C_T:456,0,3084:37887095	4	0	11	4
chr19	39660505	39660505	C	A	exonic	LGALS16	.	nonsynonymous SNV	LGALS16:NM_001190441:exon4:c.C414A:p.N138K	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000707563602261	.	0.00139776	0.0041	0.0006	0.0086	0	0	0.0025	0.0053	0.0066	0.0007684	20	26028	rs186797209	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0052	0.0050	0	0.0009	0.0024	0	0	0.0016	0.0002	0.0011	0.0056	0.0007	0.0007	0.0007	0.0007	0.0044	0.0006	0.0005	0.0029	0.0025	2.406e-05	0.0242	0.0007	0.0032	0	0	0.0102	0.0005	0.0005	0.0044	0.243	0.17526	T	0.49	0.11551	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15843	T	-0.02	0.07299	N	0.077	0.05162	-0.9831	0.34281	T	0.020	0.08407	T	8	0.0045831203	0.00095	T	7.08E-4	0.00454	T	0.013	0.01715	0.313	0.28774	0.0297737177859	0.01360	0.23125702305543835	0.23040	0.0323160249069	0.03370	0.454158842564	0.32512	T	.	.	.	-0.761551	0.00015	T	-0.864911	0.00792	T	0.00739835027676296	0.00085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32541	B	.	.	-0.668643	0.01395	0.081	0.36638375186401068	0.02368	0.00881	0.03477	N	AEFGBI	0.032810	0.03777	N	-1.23676114324858	0.04477	0.2021408	-1.30902499869823	0.04312	0.20314	0.00313003011755968	0.09942	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.647	0.647	0.16968	-2.155000	0.01371	.	.	-0.578000	0.04717	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002604	0.000000	0.001366	0.000000	0.000000	0.008621	0.006135	0.000000	0.02632	1515.33	35	chr19	39660505	.	C	A	1515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.415;DP=759;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.311;SOR=0.777	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1529,0,2087	18	0	1	0
chr19	40580789	40580789	C	G	exonic	SHKBP1	.	nonsynonymous SNV	SHKBP1:NM_138392:exon9:c.C697G:p.R233G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0104413388116	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761357091	8.221e-06	8.209e-06	4.089e-06	1.24e-05	0.0002	4.38e-06	3.46e-06	3.775e-05	2.668e-05	0	0	0	0	0	0.0002	3.601e-06	0	8.139e-05	6.576e-06	6.569e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.265	0.22694	T	0.668	0.41123	P	0.131	0.32951	B	0.000042	0.53742	D	0.121050	0.999265	0.46490	D	2.015	0.55033	M	3.58	0.45636	T	-2.92	0.61129	D	0.59	0.66959	-0.9730	0.36562	T	0.019	0.08033	T	10	0.2892143	0.46502	T	0.010441	0.26980	T	0.140	0.37593	0.44	0.49484	0.425028116352	0.42120	0.7062138185004649	0.70563	0.918157922851	0.71329	0.693021178246	0.66140	T	0.27709	0.64970	T	-0.14481	0.29128	T	-0.345156	0.39759	T	0.540967464447021	0.34140	D	0.915608	0.77472	D	0.6747322	0.76687	0.44021416	0.67348	0.6747322	0.76688	0.44021416	0.67348	-7.456	0.57300	T	.	.	0.432	0.61300	A	.;.	.;.	4.560624	0.71867	25.7	0.98739883514607152	0.45482	0.56608	0.30161	D	AEFBI	0.510732	0.53966	D	-0.0914885069412428	0.37764	2.201904	-0.148214575398857	0.33476	1.915363	0.999463604709294	0.39843	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.58	1.05	0.19280	0.727000	0.25667	.	.	0.599000	0.40250	0.068000	0.22015	0.998000	0.33993	0.996000	0.76049	0.1619:0.5587:0.0:0.2793	4.863	0.12955	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	.	.	.	.	.	.	.	.	0.02632	1106.33	39	chr19	40580789	.	C	G	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.946;DP=737;ExcessHet=0;FS=0.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.465;SOR=0.593	GT:AD:DP:GQ:PL	0/1:38,46:86:99:1120,0,798	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,49:49:99:1|1:40667975_C_T:2154,148,0:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,49:49:99:1|1:40667975_C_T:2154,148,0:40667975	1	7	11	0
chr19	41198465	41198465	G	A	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon4:c.G497A:p.R166H	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.022567069366	0.0024	0.000199681	0.0014	0.0005	0	0.0002	0.0008	0.0021	0.0022	0.0013	0.0015136	234	154602	rs45457494	0.0025	0.0025	0.0026	0.0025	0.0030	0.0025	0.0024	0.0029	0.0028	0.0005	0.0002	0.0007	2.519e-05	0.0006	0.0021	0.0030	0.0029	0.0018	0.0014	0.0014	0.0014	0.0015	0.0025	0.0013	0.0012	0.0022	0.0021	0.0006	0	0.0001	0.0009	0	0.0004	0	0.0025	0.0043	0.0013	0.064	0.36509	T	0.128	0.34959	T	0.003	0.11197	B	0.002	0.06944	B	0.071858	0.02259	N	2.019370	1	0.08975	N	1.02	0.25474	L	-0.36	0.68754	T	-1.51	0.36787	N	0.067	0.03956	-0.8627	0.51068	T	0.219	0.58227	T	10	0.0062442124	0.00141	T	0.022567	0.45471	T	0.181	0.45247	.	.	0.15556083564	0.15200	0.3357231953768544	0.33485	0.360613837386	0.37730	0.191262587905	0.00248	T	0.011229	0.10044	T	-0.533364	0.00367	T	-0.541967	0.18103	T	0.00899461626076095	0.00112	T	0.182482	0.01856	T	0.0316627	0.03048	0.040216018	0.04296	0.0316627	0.03048	0.040216018	0.04295	-5.813	0.44688	T	.	.	0.076	0.05935	B	.	.	-0.070775	0.03818	0.814	0.94922661210822434	0.25798	0.00607	0.02700	N	AEFDBI	0.053724	0.09706	N	-1.2807535982776	0.03907	0.1754057	-1.4480255687567	0.02788	0.1288755	0.999999244886565	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.14	-10.3	0.00281	-4.134000	0.00327	-4.018000	0.02390	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.512000	0.29290	0.6985:0.1885:0.113:0.0	11.899	0.51950	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	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	852.33	42	chr19	41198465	.	G	A	852.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.097;DP=703;ExcessHet=0;FS=2.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.688;SOR=0.416	GT:AD:DP:GQ:PL	0/1:24,31:55:99:866,0,595	18	0	1	0
chr19	42226169	42226169	G	A	exonic	ZNF526	.	nonsynonymous SNV	ZNF526:NM_001314033:exon3:c.G1766A:p.R589Q,ZNF526:NM_133444:exon3:c.G1766A:p.R589Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0146818896387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.183e-06	6.156e-06	6.837e-06	5.521e-06	2.987e-05	2.91e-06	2.11e-06	1.32e-06	9.6e-07	2.987e-05	0	0	2.519e-05	0	0	4.497e-06	1.657e-05	1.159e-05	6.568e-06	6.566e-06	0	1.344e-05	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.293	0.14843	T	0.055	0.46862	T	0.962	0.55554	D	0.574	0.49998	P	0.000918	0.41128	D	0.093761	0.999714	0.20609	N	0.855	0.21307	L	3.03	0.08898	T	-0.45	0.14782	N	0.128	0.12198	-0.9801	0.34979	T	0.018	0.07329	T	10	0.10565543	0.19541	T	0.014682	0.34954	T	0.067	0.19503	.	.	0.258779203287	0.25495	0.2433483906742224	0.24248	1.03528784533	0.75562	0.806554198265	0.82963	D	0.014733	0.12488	T	-0.274688	0.11240	T	-0.632347	0.10237	T	0.388543125825671	0.28509	T	0.226077	0.02982	T	0.026919927	0.01812	0.030351589	0.01479	0.026919927	0.01812	0.030351589	0.01479	-4.712	0.33549	T	.	.	0.361	0.57280	A	.	.	4.037937	0.59763	24.1	0.99211017725666806	0.55594	0.14054	0.18197	N	AEFDBCI	0.047972	0.08137	N	-0.642781263696947	0.17670	0.911284	-0.773387669630144	0.15149	0.7952665	0.808413803996531	0.24311	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.73	1.34	0.21018	-0.196000	0.09533	7.503000	0.59513	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.996000	0.76049	0.3587:0.0:0.6413:0.0	7.283	0.25494	774	0.48577	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1934.33	43	chr19	42226169	.	G	A	1934.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.942;DP=848;ExcessHet=0;FS=5.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.77;SOR=0.692	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1948,0,2087	18	0	1	0
chr19	43081019	43081019	G	A	exonic	PSG2	.	stopgain	PSG2:NM_031246:exon2:c.C292T:p.R98X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	5.776e-05	0	0.0002	0	0	5.999e-05	0	6.058e-05	7.68e-05	2	26028	rs367816200	9.579e-05	9.578e-05	0.0001	8.39e-05	0.0003	8.244e-05	7.785e-05	0.0001	0.0001	2.994e-05	0.0002	0	0.0003	1.872e-05	0	9.714e-05	9.938e-05	5.798e-05	0.0001	0.0001	0.0001	0.0001	0.0005	7.129e-05	5.778e-05	0.0003	0.0002	7.342e-05	0	0.0005	0	0	0	0	7.359e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.119784	0.33158	T	-0.125125	0.61380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.160573	0.96213	35	0.98326160888604974	0.40290	0.00270	0.01469	N	AEFI	0.026741	0.02061	N	-0.341150606517827	0.27599	1.515508	-0.792418199298335	0.14681	0.7683508	3.19225105347082E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.748	0.10528	-0.612000	0.05712	.	.	-0.443000	0.05165	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	726	0.54788	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	8148.33	35	chr19	43081019	.	G	A	8148.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.875;DP=2680;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.57;MQRankSum=-1.41;QD=12.61;ReadPosRankSum=-0.651;SOR=0.778	GT:AD:DP:GQ:PL	0/1:316,330:646:99:8162,0,7402	18	0	1	0
chr19	43652350	43652350	G	A	exonic	PLAUR	.	nonsynonymous SNV	PLAUR:NM_001005377:exon5:c.C494T:p.P165L,PLAUR:NM_001005376:exon6:c.C629T:p.P210L,PLAUR:NM_002659:exon6:c.C629T:p.P210L	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0403503381611	0.0005	0.000798722	0.0008	9.61e-05	0.0003	0	0	0.0007	0.0011	0.0028	0.0007115	110	154602	rs141507706	0.0005	0.0005	0.0004	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	0	0.0002	0.0080	0	0	0.0010	0.0002	0.0009	0.0027	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0011	0.0009	2.407e-05	0	0.0002	0.0089	0	0	0	0.0004	0	0.0021	0.002	0.78490	D	0.003	0.76473	D	0.965	0.90584	D	0.371	0.76916	B	0.000885	0.41231	D	0.000000	0.999442	0.22644	N	1.62	0.41497	L	2.04	0.26588	T	-7.13	0.94048	D	0.239	0.34444	-1.0601	0.11731	T	0.108	0.39075	T	10	0.004449427	0.00091	T	0.04035	0.59325	D	0.188	0.46444	.	.	0.237489013734	0.23353	0.6468533475443065	0.64620	0.58761891264	0.54333	0.395253181458	0.24407	T	0.389021	0.74955	T	-0.384644	0.02912	T	-0.330529	0.41410	T	0.197335163436298	0.20268	T	0.760024	0.38453	T	0.49253199	0.66653	0.36689505	0.62009	0.49253199	0.66654	0.36689505	0.62009	-8.477	0.70141	D	.	.	0.289	0.52127	B	.;.;.;.	.;.;.;.	3.820349	0.55160	23.6	0.99043341358228709	0.51073	0.09482	0.15228	N	AEFDGBHCI	0.189343	0.31660	N	0.0960874539584446	0.46279	2.870813	-0.0210903944538541	0.38764	2.288524	1.0	0.98316	0.675202	0.55065	0	0.637152	0.57089	0	0.779548	0.98927	0	0.756233	0.99697	0	.	.	4.49	4.49	0.54177	2.831000	0.47845	.	.	0.671000	0.69459	0.563000	0.27449	1.000000	0.68203	0.019000	0.11356	0.0:0.0:1.0:0.0	12.853	0.57255	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	667.33	33	chr19	43652350	.	G	A	667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.11;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.387;SOR=0.732	GT:AD:DP:GQ:PL	0/1:20,28:48:99:681,0,465	18	0	1	0
chr19	43966323	43966323	A	G	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon5:c.A821G:p.K274R,ZNF221:NM_001297589:exon5:c.A821G:p.K274R,ZNF221:NM_013359:exon6:c.A821G:p.K274R	.	399	1112	11	0	0	11	0.0049217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.000657680551343	0.0012	0.000599042	0.0011	9.628e-05	8.637e-05	0	0	0.0016	0.0044	0.0015	0.001119	173	154602	rs144749364	0.0011	0.0011	0.0010	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0001	0.0003	0.0007	0	0.0001	0.0043	0.0011	0.0015	0.0018	0.0009	0.0009	0.0009	0.0008	0.0016	0.0007	0.0007	0.0013	0.0013	0.0001	0	0.0003	0.0006	0	9.416e-05	0.0102	0.0016	0.0005	0.0015	0.86	0.02671	T	1.0	0.01155	T	0.927	0.51527	P	0.759	0.56370	P	.	.	.	.	1	0.08975	N	-0.89	0.01422	N	2.29	0.17113	T	-0.87	0.23590	N	0.033	0.01004	-1.1137	0.02770	T	0.018	0.07329	T	9	0.0068707466	0.00156	T	6.58E-4	0.00367	T	0.089	0.25827	.	.	0.0762999501168	0.06990	.	.	0.181792061342	0.20437	0.237205699086	0.02544	T	0.005061	0.04495	T	-0.745349	0.00019	T	-0.850683	0.00951	T	0.0295825408423706	0.01926	T	0.593841	0.21938	T	0.02602446	0.01609	0.062374458	0.12194	0.02602446	0.01608	0.062374458	0.12194	-1.725	0.02295	T	.	.	0.086	0.10835	B	.;.;.;.	.;.;.;.	-0.011326	0.04206	1.025	0.46501525688620848	0.03729	0.00410	0.02037	N	AEFDBHCI	0.020975	0.00885	N	-1.59988896065286	0.01265	0.05504827	-1.7898024236132	0.00792	0.03535537	0.396831821606736	0.20096	0.562547	0.31514	0	0.601575	0.49859	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.33	-4.66	0.03090	-7.557000	0.00043	.	.	-0.085000	0.16207	0.000000	0.06391	.	.	0.293000	0.24333	0.2567:0.3032:0.4401:0.0	6.070	0.19105	656	0.62345	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.017241	0.012195	0.003788	0.02632	4519.33	333	chr19	43966323	.	A	G	4519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.146;DP=5735;ExcessHet=0;FS=6.164;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.902;SOR=0.766	GT:AD:DP:GQ:PL	0/1:135,159:294:99:4533,0,3810	18	0	1	0
chr19	44704143	44704143	G	A	exonic	CEACAM16	.	nonsynonymous SNV	CEACAM16:NM_001039213:exon4:c.G508A:p.A170T	Deafness, autosomal dominant 4B, Autosomal dominant	0	1500	19	3	0	25	0.00826446	.	.	.	231033	CEACAM16-related_disorder|not_provided|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	0.00843002507967	0.0018	0.00139776	0.0035	0.0006	0.0024	0	0.0006	0.0041	0.0027	0.0048	0.0016041	248	154602	rs200297676	0.0019	0.0019	0.0019	0.0020	0.0046	0.0019	0.0018	0.0035	0.0034	0.0003	0.0006	0.0002	0	0.0003	0.0046	0.0021	0.0016	0.0038	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0010	0.0016	0.0015	0.0004	0	0.0007	0	0	0.0002	0.0034	0.0019	0.0009	0.0023	0.026	0.46910	D	0.293	0.20811	T	.	.	.	.	.	.	0.007309	0.31472	U	0.000000	1	0.08975	N	0.18	0.09070	N	2.64	0.12780	T	-0.64	0.18670	N	0.111	0.12341	-1.0257	0.21853	T	0.016	0.06521	T	10	0.007554978	0.00172	T	0.00843	0.22307	T	0.031	0.07369	.	.	0.0401082797425	0.02173	0.18168687625648638	0.18087	0.138606536157	0.15631	0.374289065599	0.21444	T	0.009598	0.08729	T	-0.71898	0.00028	T	-0.805822	0.01761	T	0.00359737329949194	0.00038	T	0.611339	0.23205	T	0.10498466	0.24821	0.11019726	0.26567	0.11373119	0.26857	0.0892798	0.20867	-3.973	0.23398	T	0.12340982727522032	0.11955	0.065	0.01909	B	.;.	.;.	0.793962	0.11644	8.230	0.98898820037583401	0.48145	0.03045	0.07938	N	AEFDBI	0.075955	0.15269	N	-1.03529815266814	0.07879	0.3675158	-1.09611235001062	0.07776	0.3796012	0.100721546774015	0.16360	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.93	-3.29	0.04706	-0.281000	0.08489	.	.	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.3337:0.2921:0.3742:0.0	5.015	0.13672	628	0.65206	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	737.33	36	chr19	44704143	.	G	A	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.254;DP=705;ExcessHet=0;FS=3.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.32;SOR=1.112	GT:AD:DP:GQ:PL	0/1:34,32:66:99:751,0,781	18	0	1	0
chr19	44942298	44942298	G	C	exonic	APOC4	.	nonsynonymous SNV	APOC4:NM_001646:exon1:c.G21C:p.R7S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0103524759829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.48855	D	0.395	0.34724	B	0.069	0.27757	B	0.144535	0.18175	N	0.408870	1	0.08975	N	1.65	0.42232	L	1.93	0.77593	T	.	.	.	0.216	0.24135	-1.0567	0.12595	T	0.041	0.17785	T	10	0.14494312	0.27501	T	0.010352	0.26785	T	.	.	0.392	0.41606	0.691401027782	0.68875	0.2543265216380271	0.25346	.	.	.	.	.	0.375246	0.73889	T	-0.128725	0.31703	T	-0.422681	0.30769	T	0.096106082201004	0.11922	T	0.449655	0.12671	T	0.10862433	0.25682	0.06726612	0.13893	0.10862433	0.25682	0.06726612	0.13892	-3.507	0.16529	T	.	.	0.155	0.49255	B	.;.;.	.;.;.	1.134560	0.15214	11.68	0.95577670132339132	0.27280	0.10162	0.15744	N	AEFDBHCI	0.331150	0.43096	N	-0.795858428589965	0.13417	0.6608336	-0.950757020310716	0.10905	0.5522883	0.00264573418852967	0.09600	0.487112	0.14033	0	0.491513	0.07743	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	3.06	-0.506	0.11391	0.242000	0.17862	.	.	0.656000	0.54149	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.1253:0.4191:0.4556:0.0	5.133	0.14251	873	0.30802	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2355.33	36	chr19	44942298	.	G	C	2355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.854;DP=815;ExcessHet=0;FS=0.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=1.67;SOR=0.608	GT:AD:DP:GQ:PL	0/1:72,86:158:99:2369,0,1771	18	0	1	0
chr19	45155897	45155897	G	C	exonic	NKPD1	.	nonsynonymous SNV	NKPD1:NM_198478:exon3:c.C549G:p.D183E	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0101	0.00239617	0.0075	0.0023	0.0025	0	0	0.0111	0.0053	0.0061	0.0023092	357	154602	rs144764378	0.0121	0.0095	0.0123	0.0118	0.0135	0.0119	0.0118	0.0133	0.0132	0.0016	0.0071	0.0146	0	0.0008	0.0039	0.0135	0.0122	0.0056	0.0074	0.0074	0.0080	0.0068	0.0116	0.0071	0.0069	0.0109	0.0107	0.0025	0	0.0093	0.0121	0	0.0009	0	0.0116	0.0095	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3206.83	33	chr19	45155897	.	G	C	3206.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.942;DP=865;ExcessHet=0.119;FS=0.94;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.589;SOR=0.628	GT:AD:DP:GQ:PL	0/1:67,69:136:99:1562,0,1505	17	0	2	0
chr19	47085180	47085180	C	T	exonic	ZC3H4	.	nonsynonymous SNV	ZC3H4:NM_015168:exon8:c.G983A:p.R328H	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0152485102701	.	.	2.487e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs751592238	5.473e-06	5.472e-06	2.723e-06	8.251e-06	8.945e-05	2.35e-06	1.7e-06	2.985e-05	1.804e-05	0	8.945e-05	0	0	0	0	2.698e-06	0	1.159e-05	6.592e-06	6.574e-06	1.289e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.098	0.30800	T	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.046914	0.23394	N	0.461649	1	0.81001	D	1.04	0.26193	L	1.9	0.23486	T	-2.58	0.55662	D	0.504	0.53620	-0.9591	0.39349	T	0.163	0.49930	T	10	0.3349051	0.50656	T	0.015249	0.35873	T	0.247	0.55478	.	.	0.143184338766	0.13958	.	.	0.547303286906	0.51699	0.657775223255	0.61091	T	0.302134	0.67455	T	-0.225674	0.17225	T	-0.33624	0.40771	T	0.649811029434204	0.38454	D	0.905909	0.66829	D	0.15704663	0.35409	0.086095914	0.19924	0.15704663	0.35408	0.086095914	0.19924	-10.074	0.74354	D	.	.	0.650	0.70913	P	.	.	4.597962	0.72796	25.9	0.99860802385827374	0.93911	0.99632	0.98173	D	AEFBI	0.663742	0.63315	D	0.772408896683783	0.84354	8.264512	0.774047268991161	0.87938	9.39817	0.999926506165306	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.97	5.97	0.96935	6.355000	0.72985	7.636000	0.62963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:1.0:0.0:0.0	19.206	0.93714	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1249.33	33	chr19	47085180	.	C	T	1249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=810;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.033;SOR=0.696	GT:AD:DP:GQ:PL	0/1:57,48:105:99:1263,0,1345	18	0	1	0
chr19	47694436	47694436	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon8:c.C2605T:p.P869S	.	.	.	.	.	.	.	.	.	.	.	4101101	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0015	0.00199681	0.0012	0.0131	0.0042	0	0	7.201e-05	0	0	0.000401	62	154602	rs199790810	0.0001	0.0001	0.0002	0.0001	0.0037	0.0001	0.0001	0.0031	0.0028	0.0037	0.0005	0	0	0	0	1.182e-05	0.0004	0	0.0011	0.0017	0.0012	0.0011	0.0040	0.0010	0.0009	0.0035	0.0033	0.0040	0	0.0003	0	0	0	0	1.492e-05	0.0005	0	0.157	0.23997	T	0.445	0.13140	T	0.903	0.49795	P	0.767	0.56720	P	.	.	.	.	0.774118	0.34186	D	.	.	.	1.53	0.30401	T	0.31	0.04022	N	0.249	0.28146	-0.9442	0.41944	T	0.072	0.29098	T	9	0.0059598684	0.00134	T	.	.	.	0.085	0.24743	.	.	0.043077524339	0.03247	0.31763981655549905	0.31676	0.184738878401	0.20772	0.817092418671	0.84582	D	0.007821	0.07202	T	-0.583044	0.00185	T	-0.607667	0.12175	T	0.0423187215126844	0.04114	T	0.525947	0.17303	T	0.055391885	0.10758	0.07842003	0.17563	0.055391885	0.10758	0.07842003	0.17563	-4.815	0.34766	T	.	.	0.082	0.08851	B	.;.	.;.	1.119079	0.15045	11.54	0.94772986793026903	0.25495	0.17741	0.19967	N	AEFDBI	0.228734	0.35236	N	-0.152520354944295	0.35127	2.013766	-0.23117433914055	0.30426	1.712982	0.999666563614328	0.41534	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.3	2.3	0.27735	0.753000	0.26042	1.363000	0.25896	0.460000	0.21577	0.001000	0.13787	0.010000	0.20010	0.248000	0.23210	0.0:1.0:0.0:0.0	12.127	0.53227	694	0.58444	.;.	.	.	.	.	.	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	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007634	0.02632	1065.33	35	chr19	47694436	.	C	T	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.162;DP=788;ExcessHet=0;FS=4.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.749;SOR=0.552	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1079,0,893	18	0	1	0
chr19	47755379	47755379	G	A	exonic	NOP53	.	nonsynonymous SNV	NOP53:NM_015710:exon9:c.G1085A:p.R362Q	.	373	1131	18	0	0	18	0.00789474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0008	0.00279553	0.0149	0	0.0118	0	0	0.0041	0	0.0213	0.002335	361	154602	rs200208997	0.0014	0.0015	0.0010	0.0019	0.0166	0.0014	0.0014	0.0159	0.0156	0.0002	0.0004	0.0062	0	0	0.0086	0.0003	0.0021	0.0166	0.0010	0.0010	0.0008	0.0011	0.0155	0.0008	0.0008	0.0127	0.0117	4.811e-05	0	0.0002	0.0078	0	0	0.0034	0.0005	0.0005	0.0155	0.064	0.36509	T	0.284	0.21411	T	0.039	0.21116	B	0.009	0.14300	B	0.073528	0.21340	N	0.433516	0.735077	0.29791	N	.	.	.	0.8	0.48769	T	-1.49	0.36385	N	0.17	0.18103	-0.9470	0.41481	T	0.103	0.37994	T	10	0.0057264864	0.00128	T	.	.	.	0.052	0.14661	.	.	0.484545746072	0.48084	0.15670827162418033	0.15591	0.248782627249	0.27447	0.559431135654	0.47188	T	0.044327	0.26780	T	-0.548391	0.00298	T	-0.547529	0.17563	T	0.029655768077075	0.01936	T	0.791921	0.43319	T	0.07371343	0.16491	0.085923776	0.19871	0.07371343	0.16491	0.085923776	0.19871	-1.59	0.01959	T	.	.	0.098	0.16407	B	.	.	2.942652	0.39128	20.9	0.99798281924628274	0.88372	0.57081	0.30283	D	AEFDBHCI	0.182314	0.30964	N	-0.210708735572878	0.32695	1.846585	-0.130428595551192	0.34169	1.96257	0.00191845506342294	0.09002	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.79	2.68	0.30839	2.177000	0.42138	3.819000	0.39943	0.676000	0.76740	0.026000	0.20160	1.000000	0.68203	0.132000	0.19645	0.1712:0.0:0.8288:0.0	5.826	0.17808	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006974	0.000000	0.007184	0.016129	0.000000	0.000000	0.009934	0.000000	0.02632	713.33	26	chr19	47755379	.	G	A	713.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=634;ExcessHet=0;FS=9.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=-0.068;SOR=0.988	GT:AD:DP:GQ:PL	0/1:15,26:41:99:727,0,298	18	0	1	0
chr19	48875734	48875734	A	G	exonic	PPP1R15A	.	nonsynonymous SNV	PPP1R15A:NM_014330:exon3:c.A1786G:p.I596V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0275885025746	.	.	2.526e-05	0	0	0	0	4.608e-05	0	0	1.94e-05	3	154602	rs758973673	1.163e-05	1.163e-05	8.172e-06	1.513e-05	1.349e-05	7.09e-06	5.8e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	3.314e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.994	0.82059	D	0.000145	0.49130	D	0.078919	0.971714	0.38891	D	2.13	0.59329	M	1.34	0.34841	T	-0.91	0.24460	N	0.183	0.19861	-0.7726	0.56714	T	0.177	0.52209	T	10	0.3392704	0.51017	T	0.027589	0.50382	D	0.237	0.54074	0.484	0.56621	0.379366414296	0.37549	0.3184418140605732	0.31757	0.314593326926	0.33740	0.533958911896	0.43593	T	0.056223	0.30227	T	-0.117327	0.33562	T	-0.298651	0.44867	T	0.586792767047882	0.35880	D	0.619338	0.23774	T	0.3693323	0.58535	0.30957624	0.56972	0.3693323	0.58536	0.30957624	0.56971	-6.144	0.47468	T	.	.	0.323	0.54718	B	.	.	2.305675	0.29507	18.14	0.99635602036290705	0.76326	0.47258	0.27943	N	AEFGBHCIJ	0.391052	0.46965	N	0.405634972535388	0.61731	4.378	0.324133005397946	0.56962	3.860452	0.999999999983137	0.74766	0.730579	0.87903	0	0.52208	0.09955	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	4.96	4.96	0.65153	1.598000	0.36351	5.925000	0.51226	0.751000	0.87719	0.978000	0.35038	1.000000	0.68203	0.015000	0.10482	1.0:0.0:0.0:0.0	11.595	0.50227	730	0.54327	Protein phosphatase 1, regulatory subunit 15A/B, 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	571.33	33	chr19	48875734	.	A	G	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.814;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.75;SOR=0.716	GT:AD:DP:GQ:PL	0/1:33,23:56:99:585,0,918	18	0	1	0
chr19	49032576	49032576	C	G	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_001319065:exon2:c.C46G:p.R16G,CGB2:NM_033378:exon2:c.C82G:p.R28G	.	175	1315	28	4	0	36	0.0135034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	.	0.0038	0.00599042	0.0125	0.0018	0.0190	0	0.0062	0.0164	0.0294	0.0101	0.0025357	66	26028	rs369311910	0.0083	0.0082	0.0083	0.0083	0.0429	0.0082	0.0081	0.0377	0.0357	0.0031	0.0114	0.0270	2.661e-05	0.0029	0.0429	0.0081	0.0123	0.0074	0.0071	0.0071	0.0073	0.0069	0.0119	0.0067	0.0066	0.0104	0.0099	0.0025	0.0011	0.0119	0.0249	0	0.0027	0.0442	0.0089	0.0106	0.0058	0.004	0.65419	D	0.22	0.31629	T	.	.	.	.	.	.	0.003164	0.35330	N	0.277463	0.949426	0.26537	N	.	.	.	-2.77	0.90904	D	-3.56	0.68880	D	0.439	0.47765	0.091	0.84012	D	0.727	0.90655	D	10	0.013537228	0.00287	T	.	.	.	0.314	0.63588	.	.	0.914968962474	0.91411	0.44295366875919373	0.44212	3.3389385424	0.99635	0.413342803717	0.26920	T	.	.	.	-0.293793	0.09258	T	-0.185395	0.56020	T	0.0318637057931176	0.02284	T	0.928407	0.73561	D	0.42292413	0.62286	0.26347303	0.52154	0.42292413	0.62286	0.26347303	0.52153	-6.17	0.47679	T	.	.	0.268	0.53024	B	.;.	.;.	2.957116	0.39368	20.9	0.98790799955104336	0.46285	0.66708	0.33172	D	AEFI	0.251763	0.37157	N	0.0205258550701362	0.42790	2.584822	-0.190588880306432	0.31882	1.808461	5.27173936388819E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	0.624	0.16833	0.886000	0.27878	1.148000	0.24458	0.291000	0.18778	0.987000	0.36337	0.871000	0.27593	0.009000	0.08673	0.2676:0.7324:0.0:0.0	7.147	0.24764	769	0.49307	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.041339	0.049020	0.062500	0.049383	0.000000	0.026786	0.028689	0.000000	0.02632	37.35	14	chr19	49032576	.	C	G	37.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.623;DP=231;ExcessHet=0;FS=0;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.026;MQ=33.11;MQRankSum=-0.253;QD=6.23;ReadPosRankSum=-0.431;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:51:51,0,106	18	0	1	0
chr19	51382463	51382463	G	A	exonic	LIM2	.	nonsynonymous SNV	LIM2:NM_001161748:exon3:c.C280T:p.R94C,LIM2:NM_030657:exon3:c.C406T:p.R136C	Cataract 19, multiple types, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698	0.2337933412	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001358	21	154602	rs200836752	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	8.646e-05	8.961e-05	2.236e-05	0.0032	5.038e-05	0	0.0005	5.755e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	9.752e-05	8.265e-05	5.846e-05	4.242e-05	7.234e-05	0	0.0001	0.0020	0	0	0	0.0001	0.0005	0.0002	0.003	0.68238	D	0.013	0.76473	D	0.999	0.77913	D	0.855	0.61644	P	0.001797	0.37998	N	0.203119	1	0.81001	D	2.175	0.60977	M	-2.45	0.88847	D	-4.59	0.78891	D	0.744	0.74371	0.599	0.91890	D	0.747	0.91359	D	10	0.42090526	0.56857	T	0.233793	0.88382	D	0.698	0.89099	.	.	0.965000202419	0.96462	0.8569415501937818	0.85657	0.557523331407	0.52367	0.464326828718	0.33903	T	0.957275	0.99425	D	0.126298	0.66998	D	0.180311	0.82014	D	0.847202360630035	0.49926	D	0.861114	0.55479	D	0.105204545	0.24873	0.074559644	0.16323	0.105204545	0.24872	0.074559644	0.16323	-8.881	0.69488	D	0.5699138810161022	0.63714	0.179	0.39012	B	.;.	.;.	4.361194	0.67072	25.0	0.99901036992690184	0.97275	0.79558	0.39446	D	AEFDBI	0.495419	0.53079	N	0.440451622653655	0.63664	4.604513	0.355702294637236	0.58852	4.058482	8.83240879134826E-4	0.07960	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.79	4.79	0.60909	3.264000	0.51256	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.117000	0.19042	0.0:0.0:0.8073:0.1927	10.576	0.44419	982	0.03397	.;.	.	.	.	.	.	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	0.002028	0.000000	0.000000	0.000000	0.000000	0.000000	0.009259	0.000000	0.02632	2117.33	33	chr19	51382463	.	G	A	2117.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=821;ExcessHet=0;FS=5.233;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.348;SOR=1.074	GT:AD:DP:GQ:PL	0/1:106,87:193:99:2131,0,2517	18	0	1	0
chr19	54667735	54667735	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon10:c.G1232A:p.G411E,LILRB4:NM_001278426:exon11:c.G1142A:p.G381E,LILRB4:NM_001278427:exon11:c.G1139A:p.G380E,LILRB4:NM_001278428:exon11:c.G1142A:p.G381E	.	42	1368	112	0	0	112	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00938498	0.0029	0.0131	0.0016	0.0003	0.0008	0.0027	0	0.0008	0.0018057	47	26028	rs143761941	0.0002	0.0077	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	6.756e-05	3.887e-05	0	0.0019	0.0005	7.91e-05	6.767e-05	9.397e-05	0.0011	0.0063	0.0009	0.0013	0.0023	0.0009	0.0009	0.0019	0.0018	0.0023	0	0.0007	0.0006	0	0.0008	0	0.0006	0.0020	0.0006	0.817	0.08534	T	0.485	0.14284	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	7.22	0.00450	T	-1.14	0.33197	N	0.082	0.06587	-1.0309	0.20163	T	0.001	0.00222	T	9	0.0048834085	0.00104	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.025520150562575675	0.02503	0.0146181732997	0.01385	0.27307882905	0.06546	T	0.024122	0.18284	T	-0.312001	0.07572	T	-0.685945	0.06627	T	0.00416992427023374	0.00044	T	0.40156	0.13085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.02548	B	.;.;.;.	.;.;.;.	-1.426860	0.00341	0.006	0.34032084928210377	0.02060	0.00201	0.01154	N	AEFBI	0.057374	0.10682	N	-1.73416465629474	0.00727	0.0314143	-1.78646037534142	0.00803	0.03586342	6.83957052779704E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	-2.07	0.06873	-2.169000	0.01355	.	.	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2899:0.0:0.7101:0.0	7.181	0.24951	814	0.42100	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005637	0.025641	0.001370	0.000000	0.000000	0.008621	0.010135	0.012000	0.02632	498.33	61	chr19	54667735	.	G	A	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.035;DP=1391;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.36;MQRankSum=-7.126;QD=3.86;ReadPosRankSum=-1.359;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,20:129:99:0|1:54667733_T_C:512,0,4476:54667733	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	0/1:403,59:462:99:326,0,11630	8	0	11	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	0/1:230,58:288:99:599,0,6464	10	3	6	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	0/1:272,51:324:99:1252,0,7964	10	3	6	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,54:353:99:0|1:54752445_C_T:1315,0,12218:54752445	10	3	6	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,44:365:99:0|1:54752482_T_C:881,0,13322:54752482	10	3	6	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|1:133,20:153:99:0|1:54760643_A_G:408,0,5337:54760643	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|1:138,21:159:99:0|1:54760643_A_G:419,0,5469:54760643	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|1:141,21:162:99:0|1:54760665_T_C:457,0,5783:54760665	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|1:139,21:160:99:0|1:54760665_T_C:463,0,5773:54760665	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|1:126,23:149:99:0|1:54760692_A_G:587,0,5181:54760692	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|1:124,23:147:99:0|1:54760692_A_G:593,0,5117:54760692	10	0	9	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|1:306,23:329:45:0|1:54767339_G_A:45,0,12650:54767339	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|1:305,24:329:90:0|1:54767339_G_A:90,0,12650:54767339	16	0	3	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	0/1:138,28:166:99:386,0,5120	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|1:376,88:464:99:0|1:54773456_T_C:2516,0,15099:54773456	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	0/1:435,127:562:99:3545,0,12022	14	0	5	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,20:296:9:0|1:54805015_T_C:9,0,11467:54805015	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|1:276,20:296:9:0|1:54805015_T_C:9,0,11508:54805015	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|1:288,24:312:99:0|1:54805015_T_C:141,0,12021:54805015	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|1:276,29:305:99:0|1:54805015_T_C:387,0,11406:54805015	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	0/1:254,34:288:99:.:.:590,0,6817:.	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|1:248,27:275:99:0|1:54805940_TCTC_T:387,0,10332:54805940	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|1:254,29:283:99:0|1:54805940_TCTC_T:453,0,10578:54805940	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|1:272,39:311:99:0|1:54805940_TCTC_T:799,0,11289:54805940	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|1:277,41:318:99:0|1:54805940_TCTC_T:841,0,11301:54805940	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|1:322,54:376:99:0|1:54806034_C_A:1289,0,13267:54806034	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|1:325,55:380:99:0|1:54806034_C_A:1322,0,13390:54806034	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|1:344,51:395:99:0|1:54806034_C_A:1106,0,14291:54806034	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|1:348,50:398:99:0|1:54806034_C_A:1052,0,14462:54806034	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,51:388:99:0|1:54806034_C_A:1127,0,13997:54806034	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,56:391:99:0|1:54806034_C_A:1343,0,13898:54806034	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,51:370:99:0|1:54806034_C_A:1181,0,13241:54806034	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|1:294,22:316:39:0|1:54806034_C_A:39,0,12279:54806034	13	0	6	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1616.45	47	chr19	54806170	.	G	C	1616.45	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.6;DP=3936;ExcessHet=2.0135;FS=11.67;InbreedingCoeff=-0.1833;MLEAC=6;MLEAF=0.158;MQ=58.45;MQRankSum=-17.59;QD=0.82;ReadPosRankSum=2.4;SOR=2.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,21:311:9:0|1:54806034_C_A:9,0,12073:54806034	13	0	6	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,57:401:99:0|1:54808838_C_T:1358,0,14253:54808838	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|1:368,70:438:99:0|1:54808838_C_T:1832,0,15213:54808838	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|1:365,69:434:99:0|1:54808838_C_T:1799,0,15090:54808838	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	0/1:357,69:426:99:1826,0,10703	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|1:339,26:365:71:0|1:54830166_G_C:71,0,14026:54830166	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|1:352,27:379:74:0|1:54830166_G_C:74,0,14673:54830166	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|1:353,27:380:71:0|1:54830166_G_C:71,0,14716:54830166	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|1:356,29:385:99:0|1:54830166_G_C:146,0,14861:54830166	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|1:355,29:384:99:0|1:54830166_G_C:149,0,14819:54830166	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|1:351,29:380:99:0|1:54830166_G_C:161,0,14651:54830166	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|1:322,29:351:99:0|1:54830166_G_C:248,0,13433:54830166	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|1:322,27:349:99:0|1:54830166_G_C:164,0,13439:54830166	14	0	5	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	15116.4	469	chr19	54847203	.	T	*	15116.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.277;DP=6140;ExcessHet=5.3738;FS=0.531;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=59.5;MQRankSum=-4.302;QD=3.03;ReadPosRankSum=1.56;SOR=0.737	GT:AD:DP:GQ:PL	0/1:336,87:529:99:2337,0,15345	17	0	2	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,42:365:99:0|1:54855608_TCTC_T:791,0,13436:54855608	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|1:324,39:363:99:0|1:54855608_TCTC_T:662,0,13444:54855608	10	0	9	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|1:198,52:250:99:0|1:54865794_T_C:1587,0,8157:54865794	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|1:211,55:266:99:0|1:54865794_T_C:1674,0,8694:54865794	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|1:213,58:271:99:0|1:54865794_T_C:1794,0,8769:54865794	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|1:216,56:272:99:0|1:54865794_T_C:1701,0,8901:54865794	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|1:220,52:272:99:0|1:54865794_T_C:1521,0,9081:54865794	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|1:217,52:269:99:0|1:54865794_T_C:1530,0,8955:54865794	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|1:187,41:228:99:0|1:54865794_T_C:1159,0,7729:54865794	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,40:224:99:0|1:54865794_T_C:1124,0,7606:54865794	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|1:180,41:221:99:0|1:54865794_T_C:1175,0,7422:54865794	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|1:214,30:244:99:0|1:54866416_T_C:616,0,8871:54866416	12	0	7	0
chr19	54889752	54889752	C	A	exonic	FCAR	.	nonsynonymous SNV	FCAR:NM_133273:exon3:c.C429A:p.S143R,FCAR:NM_133277:exon3:c.C426A:p.S142R,FCAR:NM_133271:exon4:c.C465A:p.S155R,FCAR:NM_133272:exon4:c.C717A:p.S239R,FCAR:NM_133278:exon4:c.C651A:p.S217R,FCAR:NM_002000:exon5:c.C753A:p.S251R,FCAR:NM_133269:exon5:c.C687A:p.S229R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00277521294624	.	.	7.428e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs781322512	2.326e-05	2.326e-05	9.53e-06	3.713e-05	0.0004	1.674e-05	1.477e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0004	1.315e-05	1.313e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.014	0.76473	D	0.249	0.67487	B	0.126	0.65474	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	3.84	0.03675	T	-3.09	0.63438	D	0.475	0.54059	-1.0156	0.25143	T	0.023	0.09696	T	9	0.09304035	0.16433	T	0.002775	0.05752	T	0.051	0.14325	0.446	0.50466	0.171388866994	0.16791	0.127129122424579	0.12638	0.351601627077	0.36998	0.322462558746	0.13793	T	0.092965	0.39114	T	-0.421135	0.01682	T	-0.526551	0.19633	T	0.344988793134689	0.26821	T	.	.	.	0.141	0.32602	0.16973813	0.39030	0.141	0.32602	0.16973813	0.39029	-7.598	0.64891	D	.	.	0.284	0.51695	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.505729	0.08746	5.522	0.98934000304702829	0.48807	0.05609	0.11515	N	AEFDBI	0.073256	0.14646	N	-0.498118066140879	0.22142	1.180246	-0.672173018050463	0.17657	0.9399046	0.00111854610245781	0.08239	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.9	1.72	0.23498	-0.160000	0.10029	.	.	0.596000	0.33519	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.0:0.7703:0.0:0.2297	6.470	0.21203	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	1836.33	33	chr19	54889752	.	C	A	1836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.133;DP=869;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.681;SOR=0.887	GT:AD:DP:GQ:PL	0/1:82,77:159:99:1850,0,2054	18	0	1	0
chr19	55342225	55342225	C	T	exonic	KMT5C	.	nonsynonymous SNV	KMT5C:NM_032701:exon3:c.C121T:p.P41S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0271005122038	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767623677	1.235e-05	1.3e-05	8.19e-06	1.655e-05	2.991e-05	7.72e-06	6.37e-06	8.11e-06	6.43e-06	2.991e-05	0	0	0	0	0	1.35e-05	0	2.331e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.16	0.31427	T	0.054	0.22658	B	0.01	0.14941	B	0.161418	0.17652	N	0.536026	0.999813	0.20249	N	.	.	.	.	.	.	-0.37	0.13226	N	0.329	0.36989	-1.0278	0.21168	T	0.042	0.18160	T	9	0.041122586	0.02739	T	0.027101	0.49947	D	0.035	0.08770	.	.	0.043077524339	0.03247	0.6301587224644379	0.62949	0.538746203884	0.51126	0.501339316368	0.39015	T	0.06715	0.33127	T	-0.287847	0.09854	T	-0.568383	0.15597	T	0.0476895152424081	0.05088	T	0.657134	0.26688	T	0.12756307	0.29848	0.059175238	0.11061	0.12756307	0.29848	0.059175238	0.11061	-5.973	0.46053	T	.	.	0.086	0.10931	B	.	.	2.213835	0.28248	17.73	0.99236151259477334	0.56373	0.07744	0.13744	N	AEFDGBI	0.057873	0.10816	N	-0.735347624169221	0.15033	0.7541297	-0.649563560770229	0.18228	0.9728118	0.999998287404295	0.74766	0.645754	0.44609	0	0.708844	0.79440	0	0.696144	0.63334	0	0.604944	0.38103	0	.	.	4.41	0.497	0.16109	0.393000	0.20543	2.891000	0.35390	0.596000	0.33519	0.002000	0.15269	1.000000	0.68203	0.997000	0.79791	0.4353:0.326:0.2388:0.0	6.781	0.22831	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	660.33	33	chr19	55342225	.	C	T	660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.896;DP=689;ExcessHet=0;FS=7.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.137;SOR=0.958	GT:AD:DP:GQ:PL	0/1:32,25:57:99:674,0,820	18	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,80:80:99:.:.:3486,245,0:.	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	1/1:0,80:80:99:.:.:3486,245,0:.	0	15	4	0
chr19	55577985	55577985	G	C	exonic	ZNF579	.	nonsynonymous SNV	ZNF579:NM_152600:exon2:c.C1655G:p.A552G	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0344401508855	.	.	4.175e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs757017578	1.589e-05	1.915e-05	8.234e-06	2.366e-05	0.0002	1.058e-05	8.84e-06	0.0001	0.0001	0	0	0	0	0	0.0002	9.048e-07	5.022e-05	0.0002	6.57e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.064	0.23455	B	0.03	0.21741	B	.	.	.	.	0.776014	0.34209	D	0	0.06538	N	3.25	0.06762	T	-0.2	0.10136	N	0.102	0.08506	-1.0305	0.20292	T	0.013	0.04843	T	9	0.034018427	0.01595	T	0.03444	0.55675	D	0.047	0.12962	0.121	0.02793	0.21279746466	0.20884	0.2759241169730396	0.27505	.	.	0.619638323784	0.55678	T	0.011239	0.10051	T	-0.461847	0.00957	T	-0.606353	0.12284	T	0.23448885123401	0.22164	T	0.489451	0.15024	T	0.20148556	0.42160	0.19523439	0.43190	0.20148556	0.42160	0.19523439	0.43189	-3.99	0.23654	T	.	.	0.138	0.30211	B	.	.	3.341975	0.46053	22.2	0.99593804178497203	0.73748	0.69968	0.34399	D	AEFDBI	0.139007	0.26047	N	-0.332022627819607	0.27939	1.536899	-0.191912270171172	0.31832	1.805229	0.314874821535309	0.19325	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	3.55	2.41	0.28644	2.555000	0.45515	2.685000	0.34045	0.586000	0.30580	0.389000	0.26079	0.982000	0.30508	0.997000	0.79791	0.0:0.2461:0.7539:0.0	8.259	0.30938	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	660.33	33	chr19	55577985	.	G	C	660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.245;DP=694;ExcessHet=0;FS=4.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.709;SOR=1.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,26:50:99:0|1:55577985_G_C:674,0,585:55577985	18	0	1	0
chr19	55962195	55962195	C	A	exonic	NLRP8	.	nonsynonymous SNV	NLRP8:NM_001317000:exon4:c.C2171A:p.A724E,NLRP8:NM_176811:exon4:c.C2171A:p.A724E	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.0144350505948	0.0022	0.000798722	0.0023	9.61e-05	0.0010	0	0.0014	0.0036	0.0066	0.0003	0.0021151	327	154602	rs147934431	0.0023	0.0023	0.0023	0.0023	0.0050	0.0022	0.0022	0.0036	0.0031	0.0003	0.0015	0.0135	0	0.0012	0.0050	0.0023	0.0031	0.0003	0.0018	0.0018	0.0020	0.0017	0.0025	0.0017	0.0016	0.0022	0.0020	0.0004	0	0.0016	0.0153	0	0.0006	0.0136	0.0025	0.0043	0.0002	0.311	0.13971	T	0.012	0.63918	D	0.101	0.49514	B	0.103	0.52567	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.38	0.88298	D	-2.6	0.55983	D	0.39	0.46649	-0.3687	0.73001	T	0.556	0.83798	D	9	0.010375053	0.00231	T	0.014435	0.34558	T	0.363	0.68319	.	.	0.558578966169	0.55518	0.403351850508921	0.40251	0.231264525672	0.25667	0.371693074703	0.21075	T	0.037425	0.24472	T	-0.344524	0.05080	T	-0.271653	0.47652	T	0.0677927557994121	0.08339	T	0.454655	0.12977	T	0.20442572	0.42552	0.18828152	0.42109	0.20442572	0.42552	0.18828152	0.42108	-6.558	0.50731	T	.	.	0.429	0.61306	A	.;.	.;.	1.141581	0.15289	11.74	0.48452395921202884	0.04045	0.00850	0.03394	N	AEFBI	0.029246	0.02725	N	-0.796659618727498	0.13397	0.6596555	-0.987744859209959	0.10060	0.5043152	1.71211778106922E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.93	-0.552	0.11227	0.129000	0.15656	0.085000	0.14440	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2704:0.4646:0.2651:0.0	4.059	0.09307	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1290.33	46	chr19	55962195	.	C	A	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=817;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.068;SOR=0.829	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1304,0,1272	18	0	1	0
chr20	1479850	1479850	G	A	exonic	SIRPB2	.	nonsynonymous SNV	SIRPB2:NM_001122962:exon2:c.C301T:p.R101W	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00553580796468	.	0.000199681	6.651e-05	0.0002	0	0	0	0	0	0.0004	5.82e-05	9	154602	rs200805923	5.746e-05	5.746e-05	3.403e-05	8.113e-05	0.0005	4.743e-05	4.366e-05	0.0004	0.0003	2.987e-05	2.236e-05	3.826e-05	0	0	0	2.878e-05	0.0001	0.0005	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0004	2.555e-05	1.829e-05	7.285e-05	3.045e-05	0.0001	0	6.533e-05	0	0	0	0	0	0	0.0004	0.017	0.51248	D	0.017	0.60337	D	0.215	0.30128	B	0.022	0.19653	B	0.009679	0.01249	N	2.624730	1	0.08975	N	1.78	0.46185	L	0.99	0.41750	T	-1.96	0.45404	N	0.257	0.29081	-1.0150	0.25336	T	0.070	0.28544	T	10	0.03217441	0.01364	T	0.005536	0.14258	T	0.030	0.07022	.	.	0.243398259712	0.23965	0.3021104964119157	0.30124	0.0504539778809	0.05541	0.245463207364	0.03305	T	0.08226	0.36788	T	-0.475413	0.00787	T	-0.592714	0.13432	T	0.0557506866753101	0.06483	T	0.574842	0.20648	T	0.0694363	0.15211	0.056016285	0.09932	0.0694363	0.15211	0.056016285	0.09931	-6.91	0.53373	T	.	.	0.081	0.08224	B	.	.	1.180841	0.15714	12.05	0.99491859561982454	0.67516	0.00911	0.03557	N	AEFBI	.	.	.	-1.0912264560361	0.06803	0.3142596	-1.15920776994899	0.06604	0.3184403	0.999625264441853	0.41093	0.562547	0.31514	0	0.563428	0.19063	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	3.57	-0.931	0.09907	-1.730000	0.01954	-0.019000	0.12951	-0.721000	0.03806	0.000000	0.06391	0.000000	0.08366	0.158000	0.20581	0.109:0.0:0.3251:0.566	5.227	0.14722	923	0.18507	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	3620.81	37	chr20	1479850	.	G	A	3620.81	.	AC=2;AF=0.053;AN=38;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.21;SOR=0.8	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3648,348,0	18	1	0	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	0/1:52,48:105:99:322,0,671	3	0	14	2
chr20	23048049	23048049	C	A	exonic	THBD	.	nonsynonymous SNV	THBD:NM_000361:exon1:c.G1456T:p.D486Y	Thrombophilia due to thrombomodulin defect	0	1517	5	0	0	5	0.00164528	.	.	.	27753	not_specified|Atypical_hemolytic-uremic_syndrome_with_thrombomodulin_anomaly|Thrombomodulin-related_bleeding_disorder|THBD-related_disorder|Kidney_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013044,MedGen:C2752036,OMIM:612926|MONDO:MONDO:0013775,MedGen:C3280976,OMIM:614486,Orphanet:436169|.|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0002	0.00519169	0.0076	0.0004	0.0643	0.0135	0	0.0004	0.0028	0.0012	0.0057891	895	154602	rs41348347	0.0019	0.0019	0.0021	0.0017	0.0456	0.0019	0.0018	0.0439	0.0432	0.0004	0.0456	0	0.0107	0	0.0002	0.0001	0.0016	0.0012	0.0029	0.0029	0.0028	0.0030	0.0230	0.0027	0.0026	0.0210	0.0202	0.0003	0	0.0230	0	0.0093	0	0	0.0002	0.0033	0.0010	0.274	0.15823	T	0.091	0.40110	T	0.539	0.37887	P	0.086	0.29521	B	0.004353	0.01019	N	3.101670	1	0.08975	N	1.83	0.48079	L	-1.33	0.79854	T	-0.98	0.25986	N	0.225	0.25253	-0.8776	0.49950	T	0.067	0.27434	T	10	0.002846241	0.00045	T	.	.	.	0.240	0.54500	.	.	0.251116650651	0.24721	0.5610441727137804	0.56031	.	.	0.401119947433	0.25224	T	0.238281	0.60615	T	-0.453175	0.01082	T	-0.385746	0.35050	T	0.00341307166214287	0.00036	T	0.426357	0.11459	T	0.053030137	0.09975	0.04772096	0.06934	0.053030137	0.09975	0.04772096	0.06933	-5.426	0.41169	T	0.22214936155860696	0.29970	0.098	0.16275	B	.	.	-0.200739	0.03086	0.485	0.7338167816896275	0.10308	0.11397	0.16607	N	AEFBHCI	0.182898	0.31022	N	-1.25365118900454	0.04252	0.1915274	-1.39064688436588	0.03351	0.1561288	0.999999443774221	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.608004	0.38603	0	0.71	0.69187	0	.	.	4.2	-5.26	0.02559	-0.842000	0.04462	-0.091000	0.12058	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0999:0.3699:0.3393:0.1909	3.780	0.08196	845	0.36510	.	.	.	.	.	.	Likely benign	0	0	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	0.002026	0.000000	0.001359	0.000000	0.000000	0.000000	0.009375	0.000000	0.02632	1479.33	33	chr20	23048049	.	C	A	1479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.94;DP=740;ExcessHet=0;FS=4.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.962;SOR=0.434	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1493,0,1547	18	0	1	0
chr20	23084634	23084634	G	A	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.C1559T:p.S520L	.	.	.	.	.	.	.	.	.	.	.	705404	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.196	.	0.0005	0.000998403	0.0027	0.0005	0.0252	0.0005	0	0.0001	0	0.0005	0.0022121	342	154602	rs143062108	0.0008	0.0008	0.0009	0.0007	0.0214	0.0008	0.0007	0.0203	0.0198	0.0003	0.0214	7.952e-05	0.0005	0	0	6.689e-05	0.0010	0.0007	0.0007	0.0007	0.0008	0.0007	0.0061	0.0006	0.0006	0.0051	0.0047	0.0001	0	0.0061	0	0.0004	0	0	8.82e-05	0	0.0004	0.107	0.29554	T	0.036	0.52060	D	0.047	0.21998	B	0.01	0.14941	B	0.791973	0.09390	N	0.890092	1	0.08975	N	1.79	0.46772	L	-1.42	0.80645	T	-1.98	0.45769	N	0.063	0.03502	-0.7362	0.58647	T	0.338	0.70429	T	10	0.004088968	0.00080	T	.	.	.	0.196	0.47777	.	.	0.735914652579	0.73355	0.33451248733994376	0.33364	0.0663031460796	0.07396	0.266061604023	0.05634	T	0.075474	0.35185	T	-0.508171	0.00514	T	-0.481099	0.24329	T	0.00515522449743391	0.00056	T	0.533947	0.17813	T	0.034630492	0.03922	0.064170144	0.12820	0.034630492	0.03921	0.064170144	0.12819	-4.131	0.25745	T	.	.	0.088	0.11510	B	.	.	0.394338	0.07656	4.327	0.87808407243251974	0.17497	0.10457	0.15959	N	AEFDBCI	0.133770	0.25355	N	-1.12444809486899	0.06211	0.2852894	-1.16492111558015	0.06504	0.3132899	0.9999530951942	0.48110	0.542737	0.22433	0	0.547309	0.14657	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	5.66	1.46	0.21769	0.216000	0.17370	0.596000	0.19873	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2827:0.0:0.7173:0.0	11.211	0.48028	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	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	1091.33	33	chr20	23084634	.	G	A	1091.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.102;DP=1663;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.491;SOR=1.059	GT:AD:DP:GQ:PL	0/1:62,44:106:99:1105,0,1615	18	0	1	0
chr20	23750716	23750716	C	T	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.G151A:p.A51T	.	.	.	.	.	.	.	.	.	.	.	3654817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.00233310803792	.	.	8.238e-05	0	0	0	0	5.994e-05	0	0.0004	6.47e-05	10	154602	rs763214720	6.567e-05	6.567e-05	6.398e-05	6.738e-05	0.0003	5.495e-05	5.107e-05	0.0002	0.0002	2.987e-05	8.944e-05	0	5.038e-05	0	0	5.576e-05	6.623e-05	0.0003	9.862e-05	9.851e-05	0.0001	6.73e-05	0.0004	6.01e-05	4.883e-05	7.301e-05	4.239e-05	4.831e-05	0	0.0002	0	0	0	0	0.0001	0	0.0004	0.036	0.43393	D	0.08	0.41913	T	0.998	0.73220	D	0.834	0.59825	P	0.000000	0.84330	D	0.000000	0.999999	0.08975	N	2.695	0.78878	M	1.55	0.29866	T	-3.73	0.70920	D	0.465	0.50508	-1.0052	0.28397	T	0.140	0.45960	T	10	0.30809256	0.48307	T	0.002333	0.04507	T	0.121	0.33580	.	.	0.210429274316	0.20668	0.5069447877639842	0.50616	0.00602193082573	0.00527	0.428341329098	0.28982	T	0.189244	0.54341	T	-0.34985	0.04736	T	-0.434335	0.29443	T	0.603606522083282	0.36544	D	0.679032	0.28770	T	0.33973426	0.56259	0.34128043	0.59870	0.33973426	0.56259	0.34128043	0.59869	-8.289	0.63022	D	.	.	0.406	0.60057	A	.;.	.;.	1.707023	0.21738	15.33	0.99643352846819877	0.76819	0.01743	0.05498	N	AEFDBI	0.020159	0.00768	N	-0.254596067018018	0.30920	1.728722	-0.557230283086106	0.20614	1.11143	0.00217014375759004	0.09203	0.615465	0.37627	0	0.573888	0.26702	0	0.693144	0.63139	0	0.655142	0.61905	0	.	.	1.72	1.72	0.23498	1.215000	0.32035	-0.740000	0.07623	-1.303000	0.01242	0.117000	0.23121	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	6.837	0.23124	964	0.07719	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|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	.	.	.	.	.	.	.	.	0.02632	3531.33	35	chr20	23750716	.	C	T	3531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=924;ExcessHet=0;FS=5.606;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.056;SOR=0.731	GT:AD:DP:GQ:PL	0/1:134,138:272:99:3545,0,3182	18	0	1	0
chr20	32436404	32436404	C	T	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.C3509T:p.S1170F,ASXL1:NM_015338:exon12:c.C3692T:p.S1231F	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1511	11	0	0	11	0.00362677	.	.	.	137325	not_specified|not_provided|Bohring-Opitz_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0007	0.0231629	0.0155	0.0012	0.1266	0.0209	0	0.0005	0.0055	0.0107	0.0149481	2311	154602	rs74638057	0.0055	0.0055	0.0060	0.0051	0.1177	0.0054	0.0054	0.1150	0.1139	0.0012	0.1177	0.0029	0.0345	0.0002	0.0016	0.0002	0.0051	0.0098	0.0092	0.0092	0.0080	0.0104	0.0729	0.0088	0.0086	0.0694	0.0679	0.0018	0	0.0729	0.0029	0.0201	0	0	0.0002	0.0099	0.0126	0.073	0.34982	T	0.075	0.42794	T	0.03	0.20002	B	0.011	0.15521	B	0.196146	0.16719	N	0.617595	0.552282	0.31324	N	1.875	0.49914	L	2.32	0.16640	T	-2.53	0.54864	D	0.09	0.12770	-1.0936	0.04959	T	0.002	0.00615	T	10	0.001635164	0.00019	T	.	.	.	0.024	0.04979	.	.	.	.	0.19365364355544645	0.19283	0.0630879135853	0.07022	0.288465559483	0.08699	T	0.175978	0.52575	T	-0.590236	0.00167	T	-0.523893	0.19901	T	0.00898165453397651	0.00112	T	0.770023	0.39993	T	0.09525676	0.22413	0.13339451	0.31987	0.121581204	0.28586	0.11260498	0.27170	-4.85	0.35168	T	.	.	0.163	0.43949	B	.;.;.;.;.	.;.;.;.;.	2.309630	0.29567	18.16	0.97591113539455032	0.34791	0.87071	0.46502	D	AEFDBCI	0.200037	0.32679	N	-0.249411859448061	0.31127	1.742295	-0.0964125032355625	0.35539	2.05723	0.999233736903818	0.38840	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	4.56	3.62	0.40616	2.232000	0.42663	4.749000	0.44649	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.839000	0.39591	0.0:0.8316:0.0:0.1684	9.277	0.36870	516	0.74704	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.011696	0.050000	0.000000	0.003049	0.003788	0.02632	963.33	37	chr20	32436404	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.278;DP=861;ExcessHet=0;FS=5.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.928;SOR=1.072	GT:AD:DP:GQ:PL	0/1:75,37:112:99:977,0,2105	18	0	1	0
chr20	32456215	32456215	G	A	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001351680:exon3:c.C290T:p.P97L,NOL4L:NM_080616:exon3:c.C290T:p.P97L,NOL4L:NM_001256798:exon6:c.C1022T:p.P341L	.	.	.	.	.	.	.	.	.	.	.	2334155	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00680367563353	0.0005	0.000199681	0.0004	0	8.688e-05	0	0	0.0004	0	0.0010	0.0003299	51	154602	rs146253793	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	9.012e-05	2.27e-05	0.0004	0	1.887e-05	0	0.0007	0.0004	0.0008	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0002	0.0005	0.0004	9.618e-05	0	0	0	0	0	0	0.0006	0	0.0010	0.002	0.72154	D	0.088	0.40586	T	0.33	0.33247	B	0.067	0.27542	B	0.020277	0.27075	N	0.375170	0.999994	0.08975	N	.	.	.	.	.	.	-1.34	0.33401	N	0.305	0.35088	-0.9749	0.36148	T	0.093	0.35417	T	9	0.032135725	0.01359	T	0.006804	0.17982	T	0.136	0.36778	.	.	0.0675242888579	0.06100	0.28884138861272607	0.28797	0.317912542629	0.34023	.	.	.	0.07791	0.35766	T	-0.414518	0.01855	T	-0.438362	0.28993	T	0.0730185593408604	0.09069	T	0.863414	0.55914	D	0.05345273	0.10118	0.07798383	0.17425	0.05345273	0.10117	0.07798383	0.17425	-3.958	0.23173	T	.	.	0.074	0.10400	B	.;.;.	.;.;.	3.287005	0.45060	22.1	0.99008571119063316	0.50314	0.97069	0.72509	D	AEFDBI	0.304395	0.41210	N	-0.245838694213241	0.31269	1.751707	-0.261211045888656	0.29387	1.646038	0.999994501046813	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	3.45	0.38602	4.124000	0.57676	6.204000	0.54929	0.676000	0.76740	0.910000	0.31679	1.000000	0.68203	0.137000	0.19835	0.0:0.0:0.7793:0.2207	9.960	0.40863	566	0.70798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2701.33	36	chr20	32456215	.	G	A	2701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.44;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.488;SOR=0.664	GT:AD:DP:GQ:PL	0/1:93,107:200:99:2715,0,1912	18	0	1	0
chr20	36209533	36209533	C	T	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon14:c.C1492T:p.R498C,EPB41L1:NM_177996:exon14:c.C1492T:p.R498C,EPB41L1:NM_012156:exon15:c.C1714T:p.R572C,EPB41L1:NM_001258329:exon16:c.C1714T:p.R572C	.	.	.	.	.	.	.	.	.	.	.	2824382	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.362	0.0288551533915	.	0.000199681	0.0002	9.709e-05	0	0.0024	0	1.508e-05	0	6.101e-05	0.0001811	28	154602	rs113352451	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	0.0001	0.0037	0.0035	0.0001	4.473e-05	0	0.0042	0	0	6.295e-06	0.0001	4.637e-05	5.913e-05	6.562e-05	2.571e-05	9.407e-05	0.0014	3.077e-05	2.21e-05	0.0006	0.0005	2.409e-05	0	0	0	0.0014	0	0	1.47e-05	0	0	0.026	0.72154	D	0.045	0.51737	D	0.894	0.49185	P	0.231	0.41696	B	0.158700	0.03021	U	391.976000	0.999964	0.81001	D	0.55	0.14455	N	-1.88	0.84487	D	-1.9	0.49519	N	0.565	0.64648	-0.2251	0.77016	T	0.700	0.89675	D	10	0.026827455	0.00841	T	0.028855	0.51467	D	0.362	0.68230	.	.	0.739132480594	0.73679	0.518468967786328	0.51769	0.520938504507	0.49879	0.696475923061	0.66635	T	0.195491	0.55159	T	-0.205176	0.20062	T	-0.0718005	0.65497	T	0.0535480260963368	0.06113	T	0.984801	0.94749	D	0.13415381	0.31178	0.07659232	0.16979	0.13415381	0.31178	0.07659232	0.16979	-6.003	0.48317	T	0.5007249549048864	0.57598	0.139	0.43612	B	.;.;.;.;.;.	.;.;.;.;.;.	5.783986	0.93538	33	0.9989786620685065	0.97048	0.93391	0.58091	D	AEFDBI	0.598062	0.59160	D	0.346981567298322	0.58579	4.031118	0.464234860766475	0.65636	4.848866	0.976911747103222	0.29770	0.661447	0.50134	0	0.59043	0.45803	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.87	5.87	0.94266	5.366000	0.65873	7.662000	0.64290	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.738	0.88306	795	0.45444	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1894.33	35	chr20	36209533	.	C	T	1894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.241;DP=797;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.015;SOR=0.808	GT:AD:DP:GQ:PL	0/1:66,73:139:99:1908,0,1631	18	0	1	0
chr20	45902591	45902591	A	G	exonic	PLTP	.	nonsynonymous SNV	PLTP:NM_001242920:exon9:c.T671C:p.I224T,PLTP:NM_001242921:exon9:c.T692C:p.I231T,PLTP:NM_182676:exon10:c.T800C:p.I267T,PLTP:NM_006227:exon11:c.T956C:p.I319T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00613605266627	.	.	4.584e-05	0	0.0001	0	0	0	0.0016	0.0001	2.59e-05	4	154602	rs750551533	1.645e-05	1.642e-05	5.456e-06	2.757e-05	0.0002	1.113e-05	9.35e-06	0.0002	0.0001	0	0	0	0	0	0	0	4.979e-05	0.0002	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.261	0.24277	T	0.043	0.49942	D	0.921	0.52359	P	0.442	0.52639	B	0.004813	0.33369	N	0.322330	0.904661	0.36257	D	1.87	0.49600	L	2.97	0.09450	T	-0.72	0.20358	N	0.404	0.44474	-1.0599	0.11781	T	0.035	0.14987	T	10	0.20578167	0.36816	T	0.006136	0.16052	T	0.121	0.33580	.	.	0.601496683291	0.59831	0.6909362190958362	0.69033	0.531278919098	0.50631	0.53060567379	0.43120	T	0.097471	0.40033	T	-0.314278	0.07377	T	-0.393023	0.34198	T	0.329480767250061	0.26204	T	0.905209	0.68911	D	0.12833747	0.30007	0.061871417	0.12017	0.12833747	0.30007	0.061871417	0.12016	-1.739	0.03151	T	.	.	0.095	0.20663	B	.;.;.;.;.	.;.;.;.;.	3.833693	0.55435	23.6	0.99662751893075319	0.78074	0.94405	0.61061	D	AEFDBCI	0.840409	0.75771	D	0.432092710881869	0.63194	4.548617	0.489545888803802	0.67294	5.064979	0.999993861268221	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	5.247000	0.65237	9.134000	0.78885	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.921:0.0:0.079:0.0	9.530	0.38354	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	865.33	35	chr20	45902591	.	A	G	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=728;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.19;ReadPosRankSum=0.113;SOR=0.399	GT:AD:DP:GQ:PL	0/1:10,29:39:99:879,0,221	18	0	1	0
chr20	49514311	49514311	C	A	exonic	PTGIS	.	stopgain	PTGIS:NM_000961:exon7:c.G940T:p.E314X	Hypertension, essential, Multifactorial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.435e-05	0	0	0.0001	0	0.0001	0	0	6.47e-05	10	154602	rs13306027	4.789e-05	4.788e-05	5.717e-05	3.85e-05	0.0006	3.86e-05	3.54e-05	0.0004	0.0003	0	0	0.0015	0.0006	0	0	2.698e-06	8.279e-05	1.159e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	0.0002	1.715e-05	1.129e-05	.	.	0	0	0	0.0014	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.507523	0.11880	N	0.753921	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.793	0.78927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150764	0.69340	D	0.270935	0.86623	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.414079	0.90608	31	0.98068723466706487	0.38007	0.12878	0.17534	N	AEFGBI	0.184492	0.31182	N	-0.187899852272669	0.33637	1.910634	-0.529391717215856	0.21356	1.154915	0.964177408920619	0.28741	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.1	2.07	0.26004	-0.206000	0.09400	-0.157000	0.11360	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.7109:0.1818:0.1073	6.700	0.22405	437	0.80299	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1085.33	33	chr20	49514311	.	C	A	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.58;DP=694;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.471;SOR=0.801	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1099,0,782	18	0	1	0
chr20	49906823	49906823	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A359C:p.Y120S,SPATA2:NM_006038:exon3:c.A359C:p.Y120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.740	0.129027542904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	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	2.625	0.76847	M	0.01	0.62459	T	-5.92	0.88963	D	0.947	0.95491	-0.1164	0.79718	T	0.429	0.77173	T	10	0.9058163	0.89946	D	0.129028	0.81103	D	0.740	0.90982	0.704	0.84054	0.484824406055	0.48112	0.7453351515872784	0.74479	0.963419316255	0.73082	0.746162295341	0.73880	T	0.451357	0.79211	T	0.338223	0.85713	D	0.248058	0.85525	D	0.994831421425804	0.86377	D	0.845915	0.52533	T	0.9436017	0.95614	0.89609224	0.94699	0.9436017	0.95614	0.89609224	0.94699	-5.655	0.43291	T	.	.	0.896	0.82547	P	.;.	.;.	5.048950	0.84086	28.2	0.99191121793113657	0.54994	0.95960	0.66903	D	AEDBHCI	0.878899	0.80446	D	0.701199312438925	0.79710	7.135678	0.654387342827681	0.78937	6.978046	0.99999941042468	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	7.515000	0.80659	7.929000	0.74923	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.802	0.78236	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	.	.	.	.	.	.	.	.	0.02941	37.17	44	chr20	49906823	.	T	G	37.17	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.476;DP=966;ExcessHet=0;FS=61.547;InbreedingCoeff=-0.057;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.38;SOR=6.183	GT:AD:DP:GQ:PL	0/1:57,21:78:50:50,0,1113	16	0	1	2
chr20	56525825	56525825	C	T	exonic	FAM209A	.	stopgain	FAM209A:NM_001012971:exon2:c.C271T:p.R91X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0002	9.641e-05	0	0	0	4.5e-05	0.0011	0.0010	0.0001423	22	154602	rs368902169	8.756e-05	8.756e-05	5.173e-05	0.0001	0.0011	7.488e-05	7.035e-05	0.0009	0.0008	0	0	0	2.519e-05	0	0.0005	2.248e-05	0.0001	0.0011	7.881e-05	7.875e-05	3.854e-05	0.0001	0.0012	4.494e-05	3.51e-05	0.0005	0.0004	0	0	6.54e-05	0	0	0	0	7.349e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.501260	0.11947	N	0.682160	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0539541	0.58850	T	0.248377	0.85542	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.653748	0.96731	36	0.99271803486965149	0.57593	0.05176	0.10995	N	AEFBI	0.040405	0.06005	N	0.102185690616634	0.46565	2.894903	-0.229319857726401	0.30491	1.717218	3.30982844447974E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	3.7	2.67	0.30756	1.807000	0.38540	2.208000	0.31344	0.306000	0.19039	0.147000	0.23610	0.423000	0.24817	0.069000	0.16583	0.0:0.7846:0.2154:0.0	9.591	0.38713	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1151.33	35	chr20	56525825	.	C	T	1151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.511;DP=733;ExcessHet=0;FS=2.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.765;SOR=0.463	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1165,0,1303	18	0	1	0
chr20	57500392	57500392	C	T	exonic	CTCFL	.	nonsynonymous SNV	CTCFL:NM_001269054:exon9:c.G1073A:p.R358H,CTCFL:NM_001269044:exon10:c.G1859A:p.R620H,CTCFL:NM_001269049:exon10:c.G1244A:p.R415H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000964999625755	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1487063316	2.484e-05	5.092e-05	5.905e-05	0	0.0003	4.12e-06	1.54e-06	.	.	0	0.0003	0	0	0	0	2.278e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-0.01	0.07155	N	0.066	0.05287	-0.9976	0.30590	T	0.018	0.07612	T	7	0.08861965	0.15277	T	9.65E-4	0.00980	T	0.025	0.05312	.	.	0.15499578495	0.15088	.	.	.	.	.	.	.	.	.	.	-0.364356	0.03890	T	-0.761149	0.03071	T	0.0522529051462897	0.05891	T	0.686731	0.29555	T	.	.	.	.	.	.	.	.	-3.921	0.24042	T	.	.	0.132	0.29339	B	.;.;.	.;.;.	0.332478	0.07066	3.631	0.33081777907907295	0.01952	0.00485	0.02305	N	AEFGBI	0.059463	0.11232	N	-0.902873532820256	0.10774	0.5165516	-1.0604954591449	0.08489	0.4176537	0.0194287635104451	0.13161	0.608966	0.35542	0	0.681609	0.65952	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	0.235	0.235	0.14697	-0.637000	0.05556	-0.901000	0.06991	-0.569000	0.04791	0.076000	0.22236	0.000000	0.08366	0.053000	0.15439	.	.	.	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	470.33	35	chr20	57500392	.	C	T	470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=657;ExcessHet=0;FS=10.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.365;SOR=1.468	GT:AD:DP:GQ:PL	0/1:17,19:36:99:484,0,361	18	0	1	0
chr20	63690835	63690835	G	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon26:c.G1775T:p.S592I,RTEL1:NM_001283009:exon27:c.G2444T:p.S815I,RTEL1:NM_016434:exon27:c.G2444T:p.S815I,RTEL1:NM_032957:exon27:c.G2516T:p.S839I	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	429	1092	1	0	0	1	0.000457666	.	.	.	533684	Dyskeratosis_congenita|not_provided|RTEL1-related_disorder|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:C3661900|.|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.0009	0.000998403	0.0018	0.0005	0.0006	0	0.0149	0.0024	0.0020	0	0.0011449	177	154602	rs150461578	0.0017	0.0017	0.0017	0.0017	0.0017	0.0017	0.0016	0.0017	0.0017	0.0004	0.0016	0.0005	0	0.0069	0.0017	0.0017	0.0014	1.173e-05	0.0017	0.0017	0.0014	0.0021	0.0023	0.0016	0.0015	0.0020	0.0019	0.0004	0	0.0014	0.0012	0	0.0058	0	0.0023	0.0028	0	0.037	0.68238	D	0.072	0.56640	T	0.075	0.37787	B	0.068	0.41006	B	0.070908	0.21508	N	0.548037	0.997527	0.22623	N	2.475	0.71894	M	2.88	0.10291	T	-3.4	0.67014	D	0.457	0.50327	-1.0530	0.13574	T	0.030	0.12892	T	10	0.0042290688	0.00084	T	.	.	.	0.047	0.12962	.	.	0.356364620521	0.35248	0.41054326372910854	0.40970	.	.	0.432211667299	0.29510	T	0.534634	0.83957	D	-0.482503	0.00715	T	-0.472025	0.25298	T	0.0339921006826427	0.02636	T	0.831417	0.50110	T	0.13018629	0.30385	0.14204183	0.33806	0.14836971	0.33875	0.13731408	0.32824	-6.805	0.53727	T	0.4227746478651287	0.51128	0.116	0.28492	B	.;.;.;.;.	.;.;.;.;.	1.740375	0.22144	15.50	0.99270637234239612	0.57559	0.75866	0.37169	D	AEFDGBHCI	0.128861	0.24681	N	-0.49882882861519	0.22119	1.178843	-0.503949485305626	0.22046	1.195493	0.999990741468573	0.74766	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.77	1.67	0.23149	0.958000	0.28825	0.895000	0.22503	-0.123000	0.13640	0.103000	0.22855	0.043000	0.21642	0.251000	0.23288	0.2533:0.1454:0.6012:0.0	5.579	0.16521	.	.	.;.;.;.;.	.	.	.	.	.	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	0.002028	0.010309	0.001362	0.005988	0.000000	0.000000	0.003086	0.000000	0.02632	695.33	33	chr20	63690835	.	G	T	695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.151;DP=752;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=-0.683;SOR=0.926	GT:AD:DP:GQ:PL	0/1:68,35:103:99:709,0,1627	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	1/1:0,270:270:99:8486,810,0	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,209:209:99:6303,626,0	3	3	13	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5675.79	35	chr21	13615163	.	G	A	5675.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.085;DP=1039;ExcessHet=0.3672;FS=3.219;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=50.27;MQRankSum=0.711;QD=11.8;ReadPosRankSum=0.232;SOR=0.488	GT:AD:DP:GQ:PL	0/1:72,81:153:99:2067,0,1891	16	0	3	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4031,435,0	3	5	11	0
chr21	30561132	30561132	C	T	exonic	KRTAP19-7	.	nonsynonymous SNV	KRTAP19-7:NM_181614:exon1:c.G158A:p.C53Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0002	0.00758786	0.0024	0.0003	0.0002	0.0317	0	7.492e-05	0.0033	0.0006	0.0024062	372	154602	rs148576261	0.0008	0.0008	0.0008	0.0008	0.0224	0.0008	0.0007	0.0212	0.0207	0.0001	0.0002	0.0011	0.0224	0	0.0002	2.608e-05	0.0027	0.0006	0.0014	0.0014	0.0013	0.0015	0.0337	0.0012	0.0012	0.0296	0.0280	0.0004	0	0.0007	0.0012	0.0337	0	0	1.47e-05	0.0019	0.0008	.	.	.	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.118396	0.19116	N	0.439989	1	0.08975	N	.	.	.	2.88	0.10291	T	-7.0	0.93697	D	0.199	0.21969	-1.0119	0.26322	T	0.009	0.03227	T	9	0.0037075877	0.00068	T	.	.	.	0.101	0.28911	.	.	0.156986980423	0.15292	0.10803012981155469	0.10732	0.0256486937233	0.02623	.	.	.	0.128003	0.45538	T	-0.708602	0.00032	T	-0.764174	0.02965	T	0.0120941668020831	0.00192	T	0.370263	0.08727	T	0.38714388	0.59829	0.31113765	0.57122	0.38714388	0.59829	0.31113765	0.57121	-2.535	0.06025	T	.	.	0.113	0.22282	B	.	.	0.537982	0.09066	5.849	0.39556489227620517	0.02737	0.00863	0.03429	N	AEFI	0.017974	0.00510	N	-0.938466075732258	0.09953	0.4733922	-1.03363409278121	0.09050	0.4481958	8.72557609008411E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.99	-1.01	0.09650	-0.123000	0.10586	-2.142000	0.04151	0.533000	0.24879	0.058000	0.21700	0.000000	0.08366	0.003000	0.05239	0.1626:0.582:0.0:0.2553	4.691	0.12163	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3024.33	34	chr21	30561132	.	C	T	3024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.657;DP=858;ExcessHet=0;FS=1.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.665;SOR=0.605	GT:AD:DP:GQ:PL	0/1:117,118:235:99:3038,0,3109	18	0	1	0
chr21	32325266	32325266	G	A	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon31:c.C5084T:p.S1695L	.	427	1071	22	2	0	26	0.0119926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0064	0.00259585	0.0077	0.0014	0.0074	0	0.0118	0.0078	0.0083	0.0090	0.0024579	380	154602	rs187640762	0.0096	0.0092	0.0095	0.0096	0.0108	0.0094	0.0094	0.0107	0.0106	0.0011	0.0016	0.0037	0	0.0112	0.0058	0.0108	0.0067	0.0073	0.0063	0.0063	0.0066	0.0060	0.0104	0.0060	0.0058	0.0097	0.0095	0.0015	0.0461	0.0018	0.0032	0	0.0078	0	0.0104	0.0038	0.0044	0.013	0.53900	D	0.01	0.65728	D	0.999	0.77913	D	0.888	0.63021	P	0.000682	0.42383	D	0.247939	0.999315	0.46639	D	2.085	0.57729	M	1.44	0.32722	T	-2.59	0.55821	D	0.496	0.52918	-1.0803	0.07291	T	0.088	0.33941	T	10	0.007411152	0.00169	T	.	.	.	0.210	0.50028	.	.	0.306053231325	0.30222	0.28674390858258514	0.28587	.	.	0.460779994726	0.33417	T	0.025893	0.19273	T	-0.268634	0.11909	T	-0.146974	0.59511	T	0.0219318906154045	0.00901	T	0.926307	0.72903	D	0.22015028	0.44564	0.23339005	0.48527	0.22015028	0.44563	0.23339005	0.48526	-6.275	0.48524	T	.	.	0.144	0.31758	B	.	.	4.223106	0.63889	24.6	0.99906387673002273	0.97726	0.97257	0.73623	D	AEFBI	0.371978	0.45779	N	0.360970697471953	0.59322	4.110567	0.339786998012325	0.57893	3.957123	0.999996944409901	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.15	4.2	0.48814	3.500000	0.53078	5.560000	0.48915	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.0:0.1391:0.8609:0.0	15.437	0.74881	909	0.22467	Nucleolar pre-ribosomal-associated protein 1, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002427	0.000000	0.000000	0.000000	0.000000	0.000000	0.011494	0.000000	0.02632	1452.33	34	chr21	32325266	.	G	A	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.929;DP=720;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.528;SOR=0.646	GT:AD:DP:GQ:PL	0/1:34,61:95:99:1466,0,772	18	0	1	0
chr21	36070297	36070297	A	C	exonic	CBR1	.	nonsynonymous SNV	CBR1:NM_001286789:exon1:c.A182C:p.Q61P,CBR1:NM_001757:exon1:c.A182C:p.Q61P	.	415	1102	5	0	0	5	0.00226347	.	.	.	2330111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.697	0.138333676129	.	.	2.629e-05	0	8.872e-05	0	0	0	0.0012	6.107e-05	1.94e-05	3	154602	rs746822383	3.217e-05	3.215e-05	2.725e-05	3.715e-05	0.0042	2.479e-05	2.222e-05	0.0029	0.0024	0	0	0	0	0	0.0042	5.396e-06	6.626e-05	0.0002	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0102	0	0	0.0002	0.01	0.61437	D	0.033	0.64786	D	0.076	0.63424	B	0.319	0.65306	B	0.000020	0.62929	D	0.158606	0.999995	0.58761	D	0.78	0.19475	N	-2.31	0.87750	D	-5.65	0.88361	D	0.441	0.48596	0.038	0.83004	D	0.607	0.86068	D	10	0.3569709	0.52423	T	0.138334	0.82083	D	0.697	0.89053	0.519	0.62066	0.865145801497	0.86383	0.9434148744744044	0.94323	0.366187759751	0.38195	0.515165328979	0.40947	T	0.565264	0.85516	D	0.0994771	0.64235	D	0.141784	0.79661	D	0.767890930175781	0.44313	D	0.857514	0.55036	D	0.9449919	0.95755	0.8436536	0.91080	0.9449919	0.95756	0.8436536	0.91080	-8.402	0.64310	D	.	.	0.113	0.33203	B	.;.;.;.	.;.;.;.	3.641559	0.51634	23.1	0.99453190716115025	0.65376	0.87749	0.47394	D	ALL	0.929183	0.91453	D	0.1572067009137	0.49153	3.118983	0.179297387173088	0.48712	3.083622	0.999999999650248	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.73	1.87	0.24559	4.348000	0.59158	0.163000	0.15428	0.756000	0.94297	1.000000	0.71638	0.231000	0.23784	0.997000	0.79791	0.6852:0.0:0.0658:0.249	6.654	0.22167	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	0.004040	0.005155	0.004076	0.002924	0.000000	0.017241	0.000000	0.003788	0.02632	1864.33	36	chr21	36070297	.	A	C	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.275;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.892;SOR=0.679	GT:AD:DP:GQ:PL	0/1:86,83:169:99:1878,0,2252	18	0	1	0
chr21	38822837	38822837	C	T	exonic	ETS2	.	nonsynonymous SNV	ETS2:NM_005239:exon10:c.C1358T:p.T453M,ETS2:NM_001256295:exon11:c.C1778T:p.T593M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0178926594854	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997447535	2.743e-06	3.42e-06	2.727e-06	2.758e-06	5.988e-05	6.4e-07	4.3e-07	9.92e-06	3.71e-06	5.988e-05	0	0	2.525e-05	0	0	0	1.66e-05	0	1.971e-05	1.97e-05	3.854e-05	0	7.235e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.08	0.41913	T	1.0	0.90584	D	0.824	0.59271	P	0.000028	0.55875	D	0.155857	0.999998	0.58761	D	2.375	0.68372	M	2.49	0.14531	T	-3.77	0.71397	D	0.476	0.51137	-1.1150	0.02673	T	0.087	0.33662	T	10	0.5400081	0.63665	D	0.017893	0.39762	T	0.256	0.56694	.	.	0.484162603407	0.48046	0.8984007642593622	0.89811	2.51732159824	0.97725	0.765520811081	0.76753	T	0.84386	0.96383	D	-0.0591713	0.43036	T	-0.322772	0.42270	T	0.994400084018707	0.85673	D	0.986901	0.95512	D	0.43697676	0.63207	0.31644407	0.57625	0.43697676	0.63207	0.31644407	0.57624	-8.542	0.64707	D	.	.	.	.	.	.;.	.;.	4.698760	0.75367	26.3	0.99895662793154727	0.96895	0.98206	0.80530	D	AEFDGBCI	0.851936	0.76881	D	0.731119712289585	0.81672	7.577537	0.727035480381786	0.84432	8.290066	0.999999999991292	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.62	5.62	0.85714	5.706000	0.68016	7.581000	0.60964	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	19.272	0.94000	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	1501.33	33	chr21	38822837	.	C	T	1501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.733;DP=747;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.023;SOR=0.786	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1515,0,1534	18	0	1	0
chr21	39280226	39280226	G	A	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon9:c.C854T:p.S285F,BRWD1:NM_033656:exon9:c.C854T:p.S285F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0145727700331	.	.	1.671e-05	0	0	0	0	1.524e-05	0.0011	0	3.23e-05	5	154602	rs755910980	3.023e-05	3.01e-05	3.144e-05	2.901e-05	6.953e-05	2.291e-05	2.041e-05	2.545e-05	2.228e-05	0	6.953e-05	0	0	0	0	3.423e-05	3.325e-05	1.18e-05	5.915e-05	5.911e-05	5.14e-05	6.727e-05	7.35e-05	3.078e-05	2.211e-05	2.846e-05	1.858e-05	7.241e-05	0	6.551e-05	0	0	0	0	7.35e-05	0	0	0.07	0.37750	T	0.007	0.70582	D	0.125	0.53479	B	0.059	0.58472	B	0.022346	0.26651	N	0.360072	0.991259	0.41344	D	0.28	0.10031	N	2.26	0.17596	T	-4.31	0.76576	D	0.283	0.42639	-1.1247	0.02054	T	0.069	0.28213	T	10	0.2348162	0.40529	T	0.014573	0.34773	T	0.198	0.48105	0.554	0.67133	0.286597616719	0.28274	0.6057488202423631	0.60505	0.575274155209	0.53529	0.539735853672	0.44407	T	0.345223	0.71363	T	-0.260562	0.12834	T	-0.515201	0.20783	T	0.569314176361142	0.35209	D	0.908809	0.68110	D	0.11489996	0.27119	0.19527419	0.43196	0.11489996	0.27119	0.19527419	0.43195	-10.591	0.77369	D	.	.	0.137	0.29806	B	.;.;.	.;.;.	4.295588	0.65548	24.8	0.99815291231487513	0.89885	0.98461	0.83018	D	AEFBI	0.800632	0.72656	D	0.273687770867748	0.54818	3.646633	0.35489478667318	0.58802	4.05322	0.999992241109893	0.74766	0.706548	0.73137	0	0.614415	0.52539	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.37	4.48	0.53973	7.523000	0.80785	6.556000	0.55925	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0737:0.0:0.9263:0.0	13.783	0.62583	966	0.07191	WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1785.33	46	chr21	39280226	.	G	A	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.478;DP=866;ExcessHet=0;FS=1.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=0.076;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,49:114:99:0|1:39280216_G_A:1799,0,2535:39280216	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|1:76,10:86:54:0|1:41918930_C_G:54,0,3109:41918930	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|1:76,10:86:54:0|1:41918930_C_G:54,0,3109:41918930	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|1:75,9:84:50:0|1:41918930_C_G:50,0,3078:41918930	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|1:74,9:83:53:0|1:41918930_C_G:53,0,3036:41918930	10	0	9	0
chr21	44435217	44435217	G	A	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320352:exon3:c.G104A:p.R35Q,TRPM2:NM_001320351:exon27:c.G3959A:p.R1320Q,TRPM2:NM_003307:exon28:c.G4061A:p.R1354Q,TRPM2:NM_001320350:exon29:c.G4211A:p.R1404Q	.	.	.	.	.	.	.	.	0.9999	0.97	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	.	.	.	5.885e-05	0	0	0	0	6.141e-05	0	0.0002	5.82e-05	9	154602	rs565804083	4.451e-05	4.446e-05	4.087e-05	4.818e-05	0.0002	3.578e-05	3.26e-05	8.89e-05	7.057e-05	0.0001	8.951e-05	0	0	0	0.0002	3.42e-05	8.292e-05	0.0002	7.23e-05	7.223e-05	8.993e-05	5.384e-05	0.0002	3.973e-05	3.128e-05	3.252e-05	1.916e-05	9.663e-05	0	0.0001	0	0	0	0	5.881e-05	0	0.0002	0.0	0.91255	D	0.011	0.67890	D	0.993	0.65571	D	0.557	0.51815	P	0.000001	0.62929	D	0.000000	0.997616	0.48800	D	3.58	0.93551	H	-1.21	0.78645	T	-1.43	0.35194	N	0.515	0.63544	0.307	0.87675	D	0.606	0.86026	D	10	0.70719075	0.72813	D	0.211687	0.87317	D	0.616	0.85039	.	.	0.679741279585	0.67702	0.8844391249080473	0.88411	0.520990641743	0.49885	0.407090604305	0.26054	T	0.451839	0.79240	T	-0.0316872	0.47173	T	0.00885585	0.70908	D	0.838408589363098	0.49197	D	0.818018	0.47523	T	0.4861223	0.66270	0.2443343	0.49898	0.4861223	0.66271	0.2443343	0.49897	-8.979	0.67562	D	.	.	0.227	0.48988	B	.;.;.;.;.	.;.;.;.;.	5.291836	0.88845	29.8	0.99911458683226539	0.98095	0.77913	0.38366	D	AEFDBI	0.349964	0.44358	N	0.478999502393882	0.65865	4.876526	0.396911122108135	0.61372	4.336626	0.991598455389351	0.32542	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.86	4.86	0.62624	2.076000	0.41172	6.197000	0.54843	-0.187000	0.09635	0.998000	0.41325	1.000000	0.68203	0.011000	0.09372	0.0907:0.0:0.9093:0.0	10.78	0.45572	840	0.37365	NUDIX hydrolase domain;NUDIX hydrolase domain;NUDIX hydrolase domain;.;NUDIX hydrolase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	1518.83	38	chr21	44435217	.	G	A	1518.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.03;DP=796;ExcessHet=0.119;FS=5.415;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.15;SOR=1.179	GT:AD:DP:GQ:PL	0/1:32,28:60:99:680,0,697	17	0	2	0
chr21	44600667	44600667	G	A	exonic	KRTAP10-7	.	nonsynonymous SNV	KRTAP10-7:NM_198689:exon1:c.G46A:p.G16S	.	404	1109	9	0	0	9	0.00404131	.	.	.	364155	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.037	.	0.0027	0.0167732	0.0090	0.0038	0.0013	0.0074	0.0005	0.0030	0.0061	0.0459	0.0075743	1171	154602	rs200384147	0.0044	0.0046	0.0034	0.0054	0.0399	0.0043	0.0043	0.0388	0.0383	0.0033	0.0012	0.0070	0.0076	0.0007	0.0029	0.0018	0.0057	0.0399	0.0041	0.0043	0.0035	0.0048	0.0447	0.0039	0.0038	0.0398	0.0379	0.0038	0	0.0016	0.0072	0.0081	0.0006	0	0.0021	0.0052	0.0447	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.645	0.42016	L	.	.	.	.	.	.	0.186	0.20262	-0.9565	0.39825	T	0.003	0.01026	T	9	0.002353847	0.00035	T	.	.	.	.	.	.	.	0.243972157842	0.24002	0.06352550655855156	0.06291	.	.	0.244192421436	0.03180	T	0.068069	0.33362	T	-0.648584	0.00074	T	-0.672288	0.07462	T	0.000605724899188348	0.00005	T	0.137786	0.01098	T	0.027249593	0.01890	0.058504764	0.10822	0.027249593	0.01890	0.058504764	0.10821	-6.188	0.47826	T	.	.	0.069	0.03231	B	.	.	0.319883	0.06943	3.491	0.79297427406980414	0.12678	0.01694	0.05394	N	AEFBI	0.042772	0.06677	N	-1.36901873123986	0.02933	0.1302449	-1.47816391500007	0.02524	0.116227	0.0626018408521064	0.15268	0.600919	0.35232	0	0.573888	0.26702	0	0.640751	0.46059	0	0.542086	0.14980	0	.	.	3.94	-3.28	0.04721	-0.361000	0.07664	-0.503000	0.08791	-1.790000	0.00639	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4811:0.0:0.3663:0.1526	4.579	0.11644	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010128	0.000000	0.004076	0.012500	0.050000	0.000000	0.003106	0.042308	0.02632	3890.33	36	chr21	44600667	.	G	A	3890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=1246;ExcessHet=0;FS=6.149;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.73;MQRankSum=-0.187;QD=13.05;ReadPosRankSum=-0.108;SOR=0.453	GT:AD:DP:GQ:PL	0/1:140,158:298:99:3904,0,3218	18	0	1	0
chr21	44600767	44600767	-	CA	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.146_147insCA:p.A50Rfs*5	.	398	1104	3	0	17	20	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0013	0.0003	0.0003	0.0025	0.0003	0.0002	0.0021	0.0019	0.0017	6.746e-05	0.0005	0.0025	0.0002	0	9.306e-05	0.0005	0.0012	0.0014	0.0054	0.0012	0.0016	0.0032	0.0013	0.0012	0.0027	0.0026	0.0032	0.0011	0.0009	0.0006	0.0023	0.0014	0	0.0005	0.0020	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	733.29	36	chr21	44600767	.	C	CCA	733.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.94;DP=966;ExcessHet=0;FS=18.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.13;MQRankSum=2.63;QD=34.92;ReadPosRankSum=2.57;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,18:21:64:0|1:44600767_C_CCA:747,0,64:44600767	18	0	1	0
chr21	44600768	44600768	-	CTGCTGC	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.147_148insCTGCTGC:p.A50Lfs*26	.	408	1098	8	1	7	17	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0013	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0018	0.0014	2.305e-05	0.0004	0.0024	0.0002	0	7.187e-05	0.0004	0.0010	0.0013	0.0060	0.0011	0.0014	0.0032	0.0011	0.0010	0.0026	0.0024	0.0032	0.0012	0.0008	0.0003	0.0023	0.0012	0	0.0004	0.0023	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	734.1	36	chr21	44600768	.	G	GCTGCTGC	734.1	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.83;DP=954;ExcessHet=0;FS=18.451;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=48.13;MQRankSum=2.63;QD=34.96;ReadPosRankSum=1.42;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,18:21:64:0|1:44600767_C_CCA:747,0,64:44600767	16	0	1	2
chr21	44697370	44697370	C	G	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.C169G:p.R57G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00893489436208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.21	0.26714	T	0.003	0.11197	B	0.01	0.14941	B	.	.	.	.	0.544309	0.32080	D	-0.55	0.02420	N	3.0	0.09167	T	-0.61	0.18042	N	0.186	0.20262	-0.9792	0.35186	T	0.018	0.07329	T	9	0.052771866	0.05362	T	0.008935	0.23535	T	0.035	0.08770	0.286	0.24440	0.0297737177859	0.01360	0.04252236546821669	0.04197	0.345896987908	0.36490	0.274338722229	0.06715	T	0.002982	0.02381	T	-0.306592	0.08052	T	-0.678174	0.07096	T	0.0929849608390264	0.11567	T	0.107389	0.00803	T	0.07885811	0.17983	0.085629486	0.19785	0.07885811	0.17982	0.085629486	0.19785	-6.219	0.48077	T	.	.	0.079	0.07460	B	.	.	1.431900	0.18503	13.77	0.9386642923498103	0.23874	0.06852	0.12878	N	AEFBI	0.060034	0.11381	N	-1.16482675756331	0.05540	0.2528307	-1.16781536918256	0.06454	0.310715	0.99767740604388	0.35891	0.559995	0.30671	0	0.563428	0.19063	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	2.77	1.57	0.22490	-0.111000	0.10778	0.127000	0.14995	-0.168000	0.11412	0.007000	0.17678	0.000000	0.08366	0.017000	0.10941	0.0:0.2791:0.0:0.7209	5.636	0.16811	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2168.33	34	chr21	44697370	.	C	G	2168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=1117;ExcessHet=0;FS=1.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.04;MQRankSum=0.639;QD=12.05;ReadPosRankSum=-0.851;SOR=0.761	GT:AD:DP:GQ:PL	0/1:100,80:180:99:2182,0,2635	18	0	1	0
chr22	18607060	18607060	C	A	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G4375T:p.A1459S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0138611463629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	7.871e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	1.066e-06	3.84e-05	0.0022	4.761e-05	6.737e-05	3.067e-05	6.577e-05	0.0016	2.009e-05	1.322e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0016	.	.	.	0.019	0.59159	D	.	.	.	.	.	.	0.000028	0.55875	D	0.070025	0.56434	0.33249	D	3.42	0.91902	M	.	.	.	.	.	.	0.57	0.59308	-0.4140	0.71582	T	0.223	0.58716	T	10	0.6375855	0.68870	D	0.013861	0.33577	T	.	.	.	.	0.18995819373	0.18626	0.5790178101614976	0.57830	.	.	0.514382719994	0.40836	T	0.119935	0.44182	T	-0.0406163	0.45858	T	-0.296119	0.45132	T	0.968958139419556	0.68421	D	0.734627	0.35069	T	0.09851852	0.23239	0.21198896	0.45650	0.09851852	0.23239	0.21198896	0.45649	-8.75	0.66073	D	.	.	0.163	0.35972	B	.	.	3.549787	0.49897	22.9	0.99594798170912646	0.73807	0.95053	0.63266	D	AEFI	0.408158	0.47995	N	0.241814611856609	0.53235	3.49338	0.115676945022904	0.45350	2.799731	1.30386690347478E-4	0.05386	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.58	2.56	0.29842	4.262000	0.58645	3.168000	0.36599	0.274000	0.18563	1.000000	0.71638	0.999000	0.35428	0.277000	0.23942	0.0:0.8685:0.0:0.1315	6.917	0.23544	866	0.32446	SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	92.34	30	chr22	18607060	.	C	A	92.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.101;DP=446;ExcessHet=0;FS=8.22;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=25;MQRankSum=0;QD=2.72;ReadPosRankSum=0.469;SOR=2.93	GT:AD:DP:GQ:PL	0/1:27,7:34:99:106,0,701	18	0	1	0
chr22	18918346	18918346	G	A	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.C1073T:p.T358M,LOC102724788:NM_001368249:exon11:c.C1397T:p.T466M,LOC102724788:NM_001368250:exon11:c.C1073T:p.T358M,PRODH:NM_016335:exon11:c.C1397T:p.T466M	.	0	1498	23	1	0	25	0.00827541	.	.	YES	19052	Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.0026	.	0.0057	0.0030	0.0035	0.0201	0.0026	0.0032	0.0055	0.0122	0.0050646	783	154602	rs2870984	0.0048	0.0037	0.0047	0.0049	0.0173	0.0046	0.0045	0.0160	0.0154	0.0023	0.0038	0.0106	0.0173	0.0007	0.0079	0.0020	0.0052	0.0058	0.0037	0.0045	0.0035	0.0040	0.0143	0.0031	0.0029	0.0080	0.0062	0.0036	0	0.0038	0.0133	0.0109	0.0014	0.0102	0.0019	0.0026	0.0143	0.01	0.56456	D	0.017	0.60337	D	0.853	0.47048	P	0.352	0.42883	B	0.000032	0.55875	D	0.157576	0.967669	0.38609	A	.	.	.	1.51	0.30937	T	-3.45	0.68764	D	0.449	0.49783	-0.7207	0.59429	T	0.116	0.40942	T	10	0.011515439	0.00251	T	.	.	.	0.161	0.41658	.	.	0.0401082797425	0.02173	0.6173264318784245	0.61664	0.385115291346	0.39804	0.508698225021	0.40040	T	0.353269	0.72058	T	-0.401173	0.02275	T	-0.334754	0.40938	T	0.0778350368241577	0.09707	T	0.952705	0.81989	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32874	B	.;.;.;.	.;.;.;.	4.926528	0.81191	27.5	0.99892332221749813	0.96589	0.89442	0.49909	D	AEFDBI	0.758511	0.69713	D	0.467202557692036	0.65185	4.790913	0.42067817372036	0.62853	4.50817	0.926051994528804	0.26837	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.21	3.1	0.34780	4.616000	0.60900	6.448000	0.55667	0.303000	0.18983	1.000000	0.71638	1.000000	0.68203	0.759000	0.36109	0.0:0.0:0.8108:0.1892	10.854	0.45998	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase 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	0.012639	0.005051	0.012228	0.005882	0.050000	0.034483	0.015528	0.003817	0.05263	1548.83	33	chr22	18918346	.	G	A	1548.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=864;ExcessHet=0.119;FS=5.511;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.89;MQRankSum=-4.343;QD=8.56;ReadPosRankSum=0.943;SOR=1.1	GT:AD:DP:GQ:PL	0/1:61,15:76:99:246,0,1532	17	0	2	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,177:177:99:.:.:5257,531,0:.	2	12	5	0
chr22	19041845	19041845	C	T	exonic	DGCR2	.	nonsynonymous SNV	DGCR2:NM_001173533:exon7:c.G998A:p.R333Q,DGCR2:NM_001173534:exon7:c.G989A:p.R330Q,DGCR2:NM_001184781:exon8:c.G1112A:p.R371Q,DGCR2:NM_005137:exon8:c.G1121A:p.R374Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.320599342697	.	.	3.332e-05	9.709e-05	0	0.0001	0	3.036e-05	0	0	3.23e-05	5	154602	rs771135830	2.122e-05	2.121e-05	1.635e-05	2.615e-05	2.248e-05	1.521e-05	1.325e-05	1.543e-05	1.304e-05	0	0	0	0	9.397e-05	0	2.248e-05	0	1.16e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0.0002	0	1.47e-05	0	0	0.017	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.03	0.98648	T	-1.76	0.43717	N	0.879	0.87699	1.114	0.99886	D	0.967	0.98955	D	10	0.7900474	0.78581	D	0.320599	0.91462	D	0.631	0.85821	0.269	0.21735	0.992657343436	0.99257	0.7031652419751155	0.70257	1.00905915386	0.74685	0.823499083519	0.85565	D	0.075488	0.74316	T	0.219198	0.75698	D	0.258614	0.86027	D	0.519412815570831	0.33344	D	0.987501	0.95747	D	0.443217	0.63609	0.24390979	0.49845	0.443217	0.63610	0.24390979	0.49844	-9.671	0.76374	D	.	.	0.352	0.56677	A	.;.;.	.;.;.	5.401298	0.90451	31	0.99954400101562402	0.99963	0.98532	0.83788	D	AEFDBI	0.901588	0.84846	D	0.853394308365528	0.89302	9.915741	0.838459240472522	0.92325	11.36132	0.999999999994358	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	7.801000	0.84525	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.966000	0.53164	0.0:1.0:0.0:0.0	19.352	0.94383	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1371.33	34	chr22	19041845	.	C	T	1371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.434;DP=737;ExcessHet=0;FS=4.626;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.679;SOR=0.369	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1385,0,1421	18	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:15,4:19:96:96,0,425	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	0/1:93,21:114:99:602,0,3824	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein 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	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:94,13:107:99:132,0,2563	9	0	10	0
chr22	26477019	26477019	T	C	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon2:c.A235G:p.I79V,HPS4:NM_001349896:exon4:c.A250G:p.I84V,HPS4:NM_001349899:exon4:c.A250G:p.I84V,HPS4:NM_001349900:exon4:c.A250G:p.I84V,HPS4:NM_001349901:exon4:c.A250G:p.I84V,HPS4:NM_001349902:exon4:c.A250G:p.I84V,HPS4:NM_001349903:exon4:c.A250G:p.I84V,HPS4:NM_001349904:exon4:c.A250G:p.I84V,HPS4:NM_001349905:exon4:c.A250G:p.I84V,HPS4:NM_022081:exon4:c.A250G:p.I84V,HPS4:NM_001349898:exon5:c.A250G:p.I84V	Hermansky-Pudlak syndrome 4	0	1441	75	6	0	87	0.0293028	.	.	.	208784	Hermansky-Pudlak_syndrome|not_specified|not_provided|Hermansky-Pudlak_syndrome_4	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.241	0.0623340178287	0.0033	0.00319489	0.0047	0.0008	0.0044	0	0.0005	0.0060	0.0088	0.0058	0.0044566	689	154602	rs149830675	0.0041	0.0041	0.0039	0.0044	0.0522	0.0040	0.0040	0.0473	0.0454	0.0010	0.0055	0.0139	5.038e-05	0.0007	0.0522	0.0038	0.0051	0.0058	0.0034	0.0034	0.0032	0.0036	0.0083	0.0032	0.0031	0.0063	0.0055	0.0007	0	0.0067	0.0138	0.0002	0.0006	0.0306	0.0039	0.0085	0.0083	0.784	0.03961	T	0.669	0.06490	T	0.003	0.11197	B	0.006	0.12133	B	0.252946	0.15471	N	0.647105	0.999999	0.08975	N	-0.255	0.03828	N	-2.39	0.88377	D	-0.13	0.08971	N	0.135	0.13198	-0.8639	0.50981	T	0.288	0.65968	T	10	0.005489439	0.00121	T	0.062334	0.68619	D	0.241	0.54641	.	.	0.351830644314	0.34792	0.24602720115319746	0.24516	0.0420540668612	0.04528	0.254519402981	0.04258	T	0.089147	0.38311	T	-0.430818	0.01466	T	-0.389836	0.34570	T	0.00123692600673586	0.00012	T	0.539746	0.18485	T	0.016885735	0.00230	0.03104766	0.01641	0.011325766	0.00016	0.025522374	0.00600	-5.249	0.39435	T	.	.	0.064	0.02091	B	.;.;.;.	.;.;.;.	-4.306508	0.00000	0.001	0.45153967050783667	0.03523	0.03203	0.08199	N	AEDGBCI	0.039190	0.05656	N	-2.06045918445669	0.00156	0.006693053	-2.15293289425116	0.00143	0.006274361	0.999999999999995	0.74766	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.43	-10.9	0.00151	-2.990000	0.00722	-20.000000	0.00162	-1.438000	0.01107	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.7341:0.0703:0.1957	21.803	0.99963	966	0.07191	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038771	0.025253	0.048913	0.064327	0.000000	0.086207	0.024390	0.007576	0.02632	1384.33	34	chr22	26477019	.	T	C	1384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.457;DP=760;ExcessHet=0;FS=2.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.911;SOR=0.53	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1398,0,1738	18	0	1	0
chr22	29439071	29439071	T	G	exonic	RFPL1	.	nonsynonymous SNV	RFPL1:NM_021026:exon1:c.T280G:p.W94G	.	431	817	232	35	7	309	0.155992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.0091853	0.0050	0	0.0002	0.0118	0	0.0001	0.0022	0.0299	0.0044437	687	154602	rs16987627	0.0022	0.0022	0.0013	0.0031	0.0301	0.0022	0.0021	0.0291	0.0287	0.0001	6.708e-05	0	0.0111	0	0.0017	2.608e-05	0.0029	0.0301	0.0016	0.0016	0.0008	0.0024	0.0368	0.0014	0.0013	0.0323	0.0306	0.0001	0	6.544e-05	0	0.0093	0	0	8.826e-05	0.0005	0.0368	0.326	0.13306	T	0.327	0.18732	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	P	0.895	0.22405	L	1.97	0.22067	T	-1.83	0.42957	N	0.091	0.06990	-0.9983	0.30395	T	0.022	0.09375	T	8	0.0039996207	0.00077	T	.	.	.	0.026	0.05648	0.411	0.44723	0.115124310173	0.11017	0.22197249522303472	0.22112	0.32898471278	0.35010	0.481427848339	0.36254	T	0.028714	0.20737	T	-0.692372	0.00041	T	-0.745691	0.03656	T	0.00800830506017712	0.00095	T	0.0788921	0.00581	T	0.17282526	0.37994	0.12760448	0.30714	0.17282526	0.37994	0.12760448	0.30713	-3.589	0.17698	T	.	.	0.085	0.10256	B	.	.	-0.159278	0.03305	0.573	0.52900540945295171	0.04836	0.00273	0.01482	N	AEFBI	0.065569	0.12796	N	-1.82125171396431	0.00495	0.02131315	-1.91209992184308	0.00463	0.02050865	7.30476045573846E-4	0.07704	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.616125	0.45549	0	.	.	1.23	-2.47	0.06070	-4.428000	0.00270	-10.708000	0.00673	-1.420000	0.01126	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2346:0.2275:0.0:0.5379	2.440	0.04218	521	0.74284	RDM domain, Ret finger protein-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	9079.54	39	chr22	29439071	.	T	G	9079.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.566;DP=1326;ExcessHet=0.3672;FS=1.094;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.006;SOR=0.617	GT:AD:DP:GQ:PL	0/1:104,102:206:99:2864,0,2784	18	0	1	0
chr22	29481007	29481007	G	A	exonic	NEFH	.	nonsynonymous SNV	NEFH:NM_021076:exon1:c.G745A:p.G249S	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	414	1070	35	3	0	41	0.0187987	.	.	.	77642	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.195	.	0.0020	0.0107827	0.0249	0	0	0.0149	.	0.0154	0.0085	0.0296	0.0036157	559	154602	rs60825978	0.0067	0.0066	0.0058	0.0077	0.0411	0.0066	0.0066	0.0364	0.0345	0.0021	0.0047	0.0232	0.0115	0.0179	0.0411	0.0038	0.0106	0.0330	0.0072	0.0072	0.0060	0.0084	0.0414	0.0068	0.0067	0.0367	0.0349	0.0007	0	0.0057	0.0242	0.0099	0.0164	0.0479	0.0063	0.0085	0.0414	0.396	0.10623	T	1.0	0.01155	T	.	.	.	.	.	.	0.132383	0.18588	N	0.387604	1	0.08975	N	.	.	.	-1.47	0.81067	T	-0.84	0.22944	N	0.107	0.09207	-0.9298	0.44168	T	0.095	0.35818	T	10	0.0027831197	0.00044	T	.	.	.	0.195	0.47612	.	.	.	.	0.08289868046774035	0.08224	1.08208159744	0.77162	0.548835277557	0.45694	T	.	.	.	-0.472215	0.00823	T	-0.428768	0.30074	T	0.00233016498724142	0.00024	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06341	B	.	.	1.400630	0.18148	13.57	0.91404597332805682	0.20671	0.50267	0.28623	D	ALL	0.154538	0.27958	N	-1.65766043803049	0.01003	0.0434865	-1.56724859147163	0.01860	0.0847682	0.999999999998083	0.74766	0.714655	0.82082	0	0.0	0.00010	3	0.378051	0.06126	2	0.526665	0.08891	0	.	.	4.34	-0.513	0.11365	1.461000	0.34866	2.625000	0.33658	-0.109000	0.15193	0.737000	0.28995	0.998000	0.33993	0.613000	0.31716	0.3591:0.1277:0.5132:0.0	6.298	0.20305	678	0.60190	.	.	.	.	.	rs60825978	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.044484	0.052632	0.048077	0.063694	0.000000	0.043478	0.014815	0.034483	0.02632	840.33	35	chr22	29481007	.	G	A	840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.467;DP=707;ExcessHet=0;FS=1.906;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=2.24;SOR=0.442	GT:AD:DP:GQ:PL	0/1:39,37:76:99:854,0,902	18	0	1	0
chr22	29544567	29544567	G	C	exonic	THOC5	.	nonsynonymous SNV	THOC5:NM_001002879:exon3:c.C133G:p.L45V,THOC5:NM_003678:exon3:c.C133G:p.L45V,THOC5:NM_001002877:exon4:c.C133G:p.L45V,THOC5:NM_001002878:exon4:c.C133G:p.L45V	.	435	1051	33	3	0	39	0.0182158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0030	0.00958466	0.0067	0.0010	0.0023	0.0142	0.0002	0.0050	0.0099	0.0189	0.0063583	983	154602	rs61740613	0.0051	0.0051	0.0045	0.0056	0.0494	0.0050	0.0049	0.0447	0.0428	0.0019	0.0046	0.0277	0.0147	0.0004	0.0494	0.0029	0.0085	0.0205	0.0042	0.0042	0.0039	0.0045	0.0257	0.0039	0.0038	0.0220	0.0206	0.0008	0	0.0048	0.0268	0.0118	9.42e-05	0.0442	0.0031	0.0109	0.0257	0.285	0.15354	T	0.284	0.21411	T	0.0	0.02946	B	0.0	0.01387	B	0.012778	0.29061	N	0.324591	0.705251	0.30065	N	0.51	0.13489	N	1.88	0.23884	T	-0.23	0.23156	N	0.223	0.25006	-1.0755	0.08246	T	0.021	0.08732	T	10	0.0036479533	0.00067	T	.	.	.	0.026	0.05648	.	.	0.202086224978	0.19791	0.16630728857062255	0.16550	0.868458416371	0.69307	0.421358346939	0.28023	T	0.028	0.20179	T	-0.550343	0.00290	T	-0.54837	0.17482	T	0.0115453650408759	0.00174	T	0.847115	0.52772	T	0.047572292	0.08154	0.032829687	0.02079	0.047572292	0.08154	0.032829687	0.02079	-3.923	0.22647	T	.	.	0.066	0.06024	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.492594	0.32161	18.96	0.97695594081563275	0.35400	0.87414	0.46946	D	AEFDBI	.	.	.	-0.391260137649234	0.25779	1.401982	-0.165713320818619	0.32808	1.870222	0.0291413149525586	0.13871	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	2.45	0.28953	2.476000	0.44830	3.579000	0.39150	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0723:0.2016:0.6052:0.121	6.672	0.22265	719	0.55657	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.043851	0.045455	0.048913	0.067251	0.000000	0.051724	0.018293	0.019084	0.02632	797.33	35	chr22	29544567	.	G	C	797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.091;DP=706;ExcessHet=0;FS=1.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.005;SOR=1.022	GT:AD:DP:GQ:PL	0/1:46,33:79:99:811,0,1223	18	0	1	0
chr22	31444652	31444652	C	T	exonic	EIF4ENIF1	.	nonsynonymous SNV	EIF4ENIF1:NM_001164502:exon13:c.G1505A:p.R502Q,EIF4ENIF1:NM_001164501:exon15:c.G2027A:p.R676Q,EIF4ENIF1:NM_019843:exon15:c.G2027A:p.R676Q	.	421	1094	6	1	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0041	0.00239617	0.0072	0.0002	0.0013	0.0002	0.0293	0.0083	0.0077	0.0059	0.0063712	985	154602	rs146239944	0.0055	0.0055	0.0052	0.0058	0.0062	0.0054	0.0054	0.0058	0.0056	0.0003	0.0008	0.0029	0.0001	0.0268	0.0007	0.0051	0.0046	0.0062	0.0055	0.0055	0.0049	0.0061	0.0067	0.0052	0.0051	0.0062	0.0060	0.0004	0	0.0016	0.0035	0.0002	0.0276	0.0034	0.0067	0.0047	0.0039	0.202	0.25560	T	0.312	0.19599	T	0.035	0.20614	B	0.022	0.19653	B	0.012950	0.29001	N	0.382752	0.70273	0.30088	N	2.3	0.65703	M	.	.	.	0.29	0.35399	N	0.193	0.21188	-0.9719	0.36798	T	0.088	0.33885	T	9	0.005677432	0.00126	T	.	.	.	0.148	0.39182	.	.	0.313793572803	0.30980	0.1748990094302116	0.17408	0.165782956419	0.18709	0.34746915102	0.17550	T	0.243063	0.61193	T	-0.388087	0.02767	T	-0.319848	0.42592	T	0.0159332456509325	0.00377	T	0.863714	0.58094	D	0.040582176	0.05820	0.03928158	0.03985	0.040582176	0.05820	0.03928158	0.03984	-4.586	0.31995	T	.	.	0.077	0.08851	B	.;.;.;.;.	.;.;.;.;.	2.681858	0.34985	19.78	0.9977752859230673	0.86433	0.78271	0.38591	D	AEFDBI	0.073720	0.14755	N	-0.330905191922289	0.27980	1.539536	-0.209298282662347	0.31201	1.763581	0.0395666031305659	0.14400	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.76	2.5	0.29355	2.219000	0.42540	2.206000	0.31328	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7362:0.0:0.2638	8.097	0.29994	419	0.81524	.;.;.;.;.	.	.	.	.	rs146239944	Uncertain significance	0	0	0	0	0	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	0.008621	0.000000	0.018939	0.02632	1428.33	33	chr22	31444652	.	C	T	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=0.666;SOR=0.787	GT:AD:DP:GQ:PL	0/1:25,59:84:99:1442,0,476	18	0	1	0
chr22	41238078	41238078	A	G	exonic	CHADL	.	nonsynonymous SNV	CHADL:NM_138481:exon3:c.T994C:p.S332P	.	452	1057	12	1	0	14	0.00657895	.	.	.	2347163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.557145678989	.	.	0	.	0	.	.	0	0	0	3.84e-05	1	26028	rs755194551	0.0002	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0032	0.0030	0	0.0001	0	3.824e-05	0	0.0033	2.95e-05	0.0004	0.0038	0.0002	0.0002	0.0001	0.0003	0.0042	0.0002	0.0001	0.0028	0.0023	2.427e-05	0	0.0004	0	0.0004	0	0	5.952e-05	0.0005	0.0042	0.369	0.11586	T	0.165	0.30926	T	0.815	0.45525	P	0.274	0.40037	B	0.051785	0.22951	N	0.397144	1	0.08975	N	0.47	0.13106	N	0.22	0.59851	T	-0.09	0.08340	N	0.206	0.22870	-0.9785	0.35345	T	0.104	0.38243	T	10	0.044615835	0.03439	T	0.557146	0.95942	D	0.080	0.23350	0.315	0.29096	0.263140351381	0.25927	0.2954393941868553	0.29456	0.0445187300976	0.04807	0.871395349503	0.92767	D	0.002134	0.01537	T	-0.0684965	0.41567	T	-0.336167	0.40778	T	0.284155040979385	0.24345	T	0.552145	0.19060	T	0.08458383	0.19585	0.12655723	0.30478	0.08458383	0.19585	0.12655723	0.30477	-1.843	0.02640	T	.	.	0.225	0.45653	B	.	.	2.142989	0.27288	17.41	0.98117474734074439	0.38407	0.04016	0.09447	N	AEFDBCIJ	0.058885	0.11081	N	-0.444567700248682	0.23925	1.288218	-0.528128382001617	0.21391	1.15694	0.999998958435255	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.166054	0.03999	2	0.603991	0.37454	0	.	.	4.31	-2.29	0.06419	0.706000	0.25365	0.597000	0.19884	0.654000	0.53741	0.026000	0.20160	0.090000	0.22521	0.921000	0.45669	0.1998:0.6025:0.092:0.1057	5.635	0.16809	159	0.93837	Cysteine-rich flanking region, 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	.	.	.	.	.	.	.	.	0.05263	328.83	20	chr22	41238078	.	A	G	328.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.386;DP=450;ExcessHet=0.119;FS=1.332;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.691;SOR=0.421	GT:AD:DP:GQ:PL	0/1:11,5:16:92:92,0,321	17	0	2	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.1667	3393.89	35	chr22	42128812	.	A	G	3393.89	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-0.086;DP=2055;ExcessHet=2.1469;FS=9.869;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.167;MQ=52.6;MQRankSum=-7.41;QD=2.56;ReadPosRankSum=-3.691;SOR=2.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,21:223:99:0|1:42128812_A_G:264,0,8409:42128812	12	0	6	1
chr22	43555069	43555069	G	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon25:c.C2992T:p.P998S,EFCAB6:NM_022785:exon27:c.C3448T:p.P1150S	.	429	1044	45	4	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0048	0.00339457	0.0063	0.0012	0.0046	0.0001	0.0002	0.0070	0.0088	0.0134	0.0063065	975	154602	rs34344550	0.0064	0.0064	0.0060	0.0068	0.0385	0.0063	0.0062	0.0343	0.0327	0.0017	0.0056	0.0239	2.519e-05	0.0004	0.0385	0.0058	0.0085	0.0142	0.0052	0.0052	0.0051	0.0052	0.0116	0.0049	0.0048	0.0092	0.0083	0.0012	0.0121	0.0074	0.0262	0.0002	0.0008	0.0408	0.0062	0.0114	0.0116	0.019	0.50132	D	0.044	0.50514	D	0.782	0.44333	P	0.327	0.41976	B	0.017104	0.27806	N	0.331763	0.988932	0.40856	D	2.135	0.59519	M	2.53	0.14038	T	-2.12	0.48184	N	0.359	0.40063	-1.0884	0.05804	T	0.026	0.11176	T	10	0.005732	0.00128	T	.	.	.	0.053	0.14996	.	.	0.460438652622	0.45667	0.17847128462516607	0.17766	0.289139264481	0.31319	0.345039188862	0.17189	T	0.005845	0.05287	T	-0.524154	0.00416	T	-0.514657	0.20838	T	0.0161385539555044	0.00390	T	0.679032	0.28770	T	0.08406054	0.19440	0.12487603	0.30094	0.08406054	0.19439	0.12487603	0.30093	-3.395	0.14990	T	.	.	0.376	0.58167	A	.;.	.;.	3.640759	0.51624	23.1	0.99251523262501273	0.56891	0.89131	0.49414	D	AEFDBI	0.519927	0.54500	D	0.0774063705510916	0.45409	2.798018	0.167255593261242	0.48063	3.02744	0.719762785863193	0.22917	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.88	4.88	0.63131	3.159000	0.50430	9.379000	0.80502	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:0.0:1.0:0.0	14.877	0.70142	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	0.032729	0.040404	0.028533	0.052632	0.000000	0.068966	0.033537	0.022727	0.07895	6636.79	36	chr22	43555069	.	G	A	6636.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.821;DP=1128;ExcessHet=0.3672;FS=0.527;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.389;SOR=0.643	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1693,0,2179	16	0	3	0
chr22	43773055	43773055	A	G	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon4:c.T188C:p.I63T	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0048	0.00319489	0.0056	0.0007	0.0023	0.0001	0.0003	0.0065	0.0055	0.0124	0.0057373	887	154602	rs146421624	0.0065	0.0065	0.0061	0.0068	0.0300	0.0064	0.0063	0.0263	0.0249	0.0011	0.0028	0.0119	5.038e-05	0.0008	0.0300	0.0064	0.0074	0.0135	0.0042	0.0042	0.0045	0.0039	0.0104	0.0039	0.0038	0.0081	0.0073	0.0010	0.0110	0.0036	0.0092	0.0002	0.0009	0.0272	0.0062	0.0061	0.0104	0.079	0.33753	T	0.005	0.72224	D	0.981	0.59675	D	0.617	0.51308	P	0.003033	0.35542	N	0.173599	0.601787	0.81001	D	2.32	0.66415	M	2.04	0.20808	T	-2.32	0.51478	N	0.628	0.64223	-1.1185	0.02428	T	0.062	0.25672	T	10	0.008963555	0.00203	T	.	.	.	0.182	0.45420	.	.	0.493021045079	0.48934	0.5101307854422429	0.50935	0.357239125746	0.37449	0.620053529739	0.55737	T	0.020141	0.15912	T	-0.354042	0.04478	T	-0.270302	0.47788	T	0.0448903567107127	0.04583	T	0.678032	0.28700	T	0.120966405	0.28454	0.11955649	0.28857	0.120966405	0.28454	0.11955649	0.28856	-5.444	0.41340	T	.	.	0.616	0.69555	P	.	.	4.178121	0.62878	24.5	0.99826203494951415	0.90852	0.91616	0.53901	D	AEDGI	0.651482	0.62522	D	0.488562649464887	0.66418	4.947908	0.493774951963598	0.67576	5.102637	0.99999733931667	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.92	4.92	0.64147	4.774000	0.62033	10.789000	0.83761	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	11.111	0.47456	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	0.020645	0.005051	0.014946	0.038012	0.000000	0.051724	0.030488	0.018939	0.05263	2923.83	37	chr22	43773055	.	A	G	2923.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.08;DP=835;ExcessHet=0.119;FS=1.054;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.649;SOR=0.6	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1466,0,1588	17	0	2	0
chr22	44845291	44845291	G	A	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_001198726:exon8:c.G619A:p.E207K,ARHGAP8:NM_181335:exon8:c.G619A:p.E207K,ARHGAP8:NM_001017526:exon9:c.G712A:p.E238K,PRR5-ARHGAP8:NM_181334:exon11:c.G1012A:p.E338K	.	.	.	.	.	.	.	.	.	.	.	3283043	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0061214560368	.	.	6.592e-05	0	8.643e-05	0	0	4.497e-05	0.0022	0.0001	5.17e-05	8	154602	rs540915857	3.01e-05	3.01e-05	1.77e-05	4.263e-05	0.0003	2.282e-05	2.032e-05	0.0002	0.0002	0	0	0	0	0	0	1.529e-05	3.312e-05	0.0003	6.574e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.168	0.26852	T	0.238	0.49942	T	0.955	0.54515	P	0.109	0.31370	B	0.109612	0.19477	U	0.262109	0.63604	0.30657	N	1.655	0.42436	L	1.03	0.40469	T	-2.37	0.54546	N	0.499	0.55453	-0.9998	0.29973	T	0.062	0.25815	T	10	0.25405437	0.42780	T	0.006121	0.16023	T	0.169	0.43123	0.492	0.57890	0.290962096972	0.28708	0.5447985108994846	0.55890	.	.	0.626901268959	0.56706	T	0.069757	0.33789	T	-0.208825	0.19545	T	-0.241547	0.50648	T	0.13708770275116	0.16022	T	0.864814	0.59716	D	0.17361973	0.38120	0.17622936	0.40142	0.17361973	0.38119	0.17622936	0.40142	-11.721	0.83466	D	.	.	0.137	0.40522	B	.;.;.;.;.	.;.;.;.;.	4.143568	0.62103	24.4	0.9987517809461709	0.95244	0.86109	0.45329	D	AEFBI	0.480075	0.52195	N	-0.0584989731517468	0.39224	2.309627	-0.0220614880827833	0.38720	2.285341	0.935667004551919	0.27223	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	5.963000	0.70086	10.774000	0.83726	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.287000	0.24188	0.0:0.0:1.0:0.0	13.059	0.58404	987	0.02648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1724.33	36	chr22	44845291	.	G	A	1724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.309;DP=757;ExcessHet=0;FS=1.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.427;SOR=0.773	GT:AD:DP:GQ:PL	0/1:61,76:137:99:1738,0,1374	18	0	1	0
chr22	45327918	45327918	G	A	exonic	FAM118A	.	nonsynonymous SNV	FAM118A:NM_001349913:exon4:c.G377A:p.R126Q,FAM118A:NM_001349914:exon4:c.G380A:p.R127Q,FAM118A:NM_017911:exon4:c.G377A:p.R126Q,FAM118A:NM_001104595:exon5:c.G377A:p.R126Q,FAM118A:NM_001349916:exon6:c.G419A:p.R140Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00851313102356	.	0.000199681	1.649e-05	0	8.651e-05	0	0	0	0	6.061e-05	1.94e-05	3	154602	rs188564203	1.437e-05	1.437e-05	1.225e-05	1.65e-05	8.944e-05	9.23e-06	7.84e-06	3.765e-05	2.662e-05	0	8.944e-05	0	2.519e-05	0	0	7.194e-06	1.656e-05	8.115e-05	1.969e-05	1.968e-05	3.853e-05	0	0.0001	5.24e-06	2.45e-06	2.258e-05	9.06e-06	2.405e-05	0	0.0001	0	0	0	0	0	0	0	0.654	0.04786	T	1.0	0.02503	T	0.0	0.02946	B	0.0	0.01387	B	0.000089	0.51296	N	0.134028	0.999991	0.08975	N	-0.69	0.01958	N	1.0	0.41392	T	1.28	0.00973	N	0.102	0.13911	-1.0895	0.05616	T	0.049	0.20750	T	10	0.022418112	0.00559	T	0.008513	0.22507	T	0.074	0.21613	.	.	0.0675242888579	0.06100	0.07261002388641012	0.07198	0.232228870902	0.25770	0.344496905804	0.17108	T	0.006841	0.06266	T	-0.330352	0.06085	T	-0.536457	0.18647	T	0.0427215248346329	0.04187	T	0.622038	0.23930	T	0.018897627	0.00413	0.035125207	0.02707	0.018897627	0.00413	0.035125207	0.02707	1.843	0.00060	T	.	.	0.055	0.00861	B	.;.;.;.	.;.;.;.	1.930201	0.24512	16.42	0.23969744186586889	0.01038	0.10950	0.16305	N	AEFDGBI	0.033137	0.03873	N	-0.650269625720964	0.17453	0.8981859	-0.451205429778373	0.23514	1.282739	0.950534155528779	0.27900	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	4.08	0.46880	5.767000	0.68502	3.859000	0.40127	-0.096000	0.16002	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.8438:0.0:0.1562:0.0	8.887	0.34571	981	0.03995	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1613.33	125	chr22	45327918	.	G	A	1613.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=1406;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.495;SOR=0.638	GT:AD:DP:GQ:PL	0/1:77,61:138:99:1627,0,1843	18	0	1	0
chr22	50208583	50208583	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	3321060	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.519	.	8e-05	.	0.0004	0	0.0002	0	0	0.0002	0.0022	0.0014	0.0003558	55	154602	rs200468030	0.0004	0.0004	0.0003	0.0004	0.0018	0.0004	0.0004	0.0016	0.0015	0	2.236e-05	0	7.557e-05	1.88e-05	0.0002	0.0004	0.0003	0.0018	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	0	0	0	0	0	0	0	0.0004	0	0.0019	0.01	0.56456	D	0.006	0.70582	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.59	0.93643	H	2.14	0.19450	T	-4.02	0.74269	D	0.852	0.84817	-0.4178	0.71463	T	0.227	0.59196	T	10	0.27074018	0.44607	T	.	.	.	0.519	0.79522	.	.	0.668130645813	0.66533	.	.	0.553327762162	0.52107	0.580834031105	0.50202	T	0.095593	0.39653	T	-0.162274	0.26411	T	-0.0464051	0.67268	D	0.469398319721222	0.31509	T	0.974503	0.91007	D	0.35286838	0.57289	0.2134271	0.45852	0.35286838	0.57289	0.2134271	0.45851	.	.	.	.	.	0.126	0.26669	B	.;.	.;.	5.077259	0.84710	28.4	0.99960460336638601	0.99997	0.96564	0.69771	D	AEFDBCI	0.931877	0.92136	D	0.937986401461939	0.93491	12.07573	0.837273401675858	0.92250	11.31987	0.999999999999966	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	9.859000	0.98414	7.333000	0.58213	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.376000	0.26245	0.0:0.0:1.0:0.0	19.073	0.93131	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1064.33	47	chr22	50208583	.	G	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=783;ExcessHet=0;FS=1.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.412;SOR=1.008	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1078,0,919	18	0	1	0
chr22	50720291	50720291	G	A	exonic	SHANK3	.	nonsynonymous SNV	SHANK3:NM_001372044:exon23:c.G2641A:p.A881T	Phelan-McDermid syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	.	3602436	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.274942758258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.124e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	0.986288	0.24631	N	.	.	.	.	.	.	.	.	.	0.467	0.50327	-0.9201	0.45540	T	0.163	0.49980	T	9	0.35131204	0.51983	T	0.274943	0.90019	D	0.117	0.32689	.	.	.	.	0.24221759595030232	0.24135	.	.	0.883453190327	0.94421	D	0.046604	0.27473	T	.	.	.	.	.	.	.	.	.	0.860814	0.55431	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.46097	B	.;.	.;.	4.618845	0.73326	26.0	0.99876862226514573	0.95410	0.97507	0.75198	D	AEFDBI	0.528147	0.54979	D	0.462780114793222	0.64933	4.759219	0.466927598315251	0.65809	4.871214	0.999999807776009	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.503968	0.08637	0	0.636168	0.56350	0	.	.	4.56	4.56	0.55644	4.952000	0.63320	7.850000	0.70922	0.493000	0.22426	0.999000	0.42656	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	14.904	0.70349	608	0.67185	.;.	.	.	.	.	.	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	483.36	23	chr22	50720291	.	G	A	483.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.131;DP=401;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.0289;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=1.15;SOR=0.42	GT:AD:DP:GQ:PL	0/1:10,20:30:99:497,0,225	18	0	1	0
chr22	50776706	50776706	G	A	exonic	RABL2B	.	nonsynonymous SNV	RABL2B:NM_001003789:exon4:c.C181T:p.H61Y,RABL2B:NM_001130919:exon4:c.C181T:p.H61Y,RABL2B:NM_001130922:exon4:c.C181T:p.H61Y,RABL2B:NM_001350010:exon4:c.C181T:p.H61Y,RABL2B:NM_001350011:exon4:c.C181T:p.H61Y,RABL2B:NM_001350015:exon4:c.C181T:p.H61Y,RABL2B:NM_007081:exon4:c.C181T:p.H61Y,RABL2B:NM_001130920:exon5:c.C181T:p.H61Y,RABL2B:NM_001130921:exon5:c.C181T:p.H61Y,RABL2B:NM_001130923:exon5:c.C181T:p.H61Y,RABL2B:NM_001350003:exon5:c.C181T:p.H61Y,RABL2B:NM_001350004:exon5:c.C181T:p.H61Y,RABL2B:NM_001350005:exon5:c.C181T:p.H61Y,RABL2B:NM_001350006:exon5:c.C181T:p.H61Y,RABL2B:NM_001350007:exon5:c.C181T:p.H61Y,RABL2B:NM_001350008:exon5:c.C181T:p.H61Y,RABL2B:NM_001350009:exon5:c.C181T:p.H61Y,RABL2B:NM_001350012:exon5:c.C181T:p.H61Y,RABL2B:NM_001350013:exon5:c.C181T:p.H61Y,RABL2B:NM_001350014:exon5:c.C181T:p.H61Y,RABL2B:NM_001350016:exon5:c.C181T:p.H61Y,RABL2B:NM_001350017:exon5:c.C181T:p.H61Y	.	426	1095	1	0	0	1	0.000456413	.	.	.	2240812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.234	0.0179458467898	.	.	0.0003	0	0.0001	0	0	0.0003	0.0014	0.0008	0.0001746	27	154602	rs781937910	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0009	0.0009	0	0	0	0	1.875e-05	0	0.0002	0.0001	0.0011	7.228e-05	7.224e-05	6.423e-05	8.071e-05	0.0001	3.971e-05	3.127e-05	7.907e-05	5.992e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0	0.79	0.03834	T	0.249	0.27235	T	0.001	0.11197	B	0.013	0.16460	B	0.000003	0.62929	D	0.140354	0.932263	0.37016	D	0.405	0.12330	N	-1.06	0.76819	T	-0.4	0.22727	N	0.319	0.43803	-0.8763	0.50052	T	0.168	0.50778	T	10	0.052889585	0.05393	T	0.017946	0.39844	T	0.234	0.53644	.	.	0.269682111328	0.26585	0.5519488038107647	0.55120	.	.	0.751580715179	0.74680	T	0.144431	0.48104	T	-0.376796	0.03264	T	-0.405568	0.32737	T	0.0430442970170524	0.04245	T	0.894111	0.63286	D	0.060212266	0.12327	0.054810822	0.09497	0.060212266	0.12327	0.054810822	0.09497	-4.838	0.39124	T	.	.	0.140	0.32275	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.679901	0.34960	19.77	0.55949214776347933	0.05449	0.74976	0.36692	D	AEFDI	0.202669	0.32924	N	-0.525102807506435	0.21270	1.127602	-0.404047926223174	0.24878	1.364847	8.67152007688305E-5	0.04703	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	3.23	2.21	0.27042	2.871000	0.48157	7.641000	0.63200	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.2722:0.0:0.7278:0.0	4.574	0.11619	.	.	Small GTP-binding protein domain;.;.;Small GTP-binding protein domain;.;.;Small GTP-binding protein 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	0.001168	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.008130	0.02632	1656.33	33	chr22	50776706	.	G	A	1656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.313;DP=768;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.94;MQRankSum=0.559;QD=14.79;ReadPosRankSum=0.206;SOR=0.786	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1670,0,1188	18	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1176	5637.54	723	chrX	6533750	.	C	T	5637.54	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.19;DP=3635;ExcessHet=0.7564;FS=9.728;InbreedingCoeff=-0.1515;MLEAC=4;MLEAF=0.118;MQ=51.79;MQRankSum=-5.382;QD=3.53;ReadPosRankSum=-3.114;SOR=1.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:436,69:505:99:0|1:6533736_G_C:1334,0,17974:6533736	13	0	4	2
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	0/1:38,74:112:99:.:.:2264,0,6328:.	3	0	2	14
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,28:135:99:0|1:10469688_G_A:292,0,2512:10469688	8	0	10	1
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	586.59	37	chrX	10469693	.	T	C	586.59	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.473;DP=1398;ExcessHet=1.3;FS=110.107;InbreedingCoeff=-0.1633;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.41;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,18:130:7:0|1:10469688_G_A:7,0,4163:10469688	13	0	5	1
chrX	14009058	14009058	T	A	exonic	GEMIN8	.	nonsynonymous SNV	GEMIN8:NM_001042480:exon4:c.A584T:p.E195V,GEMIN8:NM_001042479:exon5:c.A584T:p.E195V,GEMIN8:NM_017856:exon5:c.A584T:p.E195V	.	440	1058	18	6	0	30	0.0139795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	.	0.0014	0.0246358	0.0131	0.0015	0.0202	0.0987	0	0.0014	0.0142	0.0217	0.011397	1762	154602	rs3747421	0.0058	0.0058	0.0055	0.0063	0.0955	0.0057	0.0056	0.0925	0.0914	0.0009	0.0173	0.0027	0.0955	0.0001	0.0051	0.0013	0.0098	0.0219	0.0059	0.0062	0.0055	0.0066	0.0982	0.0055	0.0053	0.0897	0.0864	0.0018	0	0.0078	0.0038	0.0982	0.0002	0	0.0016	0.0111	0.0225	0.007	0.59928	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	7.97387e-08	0.58761	P	2.605	0.76211	M	0.76	0.49919	T	-4.12	0.75058	D	0.14	0.21188	-0.5633	0.66278	T	0.075	0.30272	T	9	0.0020343065	0.00029	T	.	.	.	0.279	0.59619	.	.	.	.	0.8670984730594361	0.86674	1.15350077271	0.79298	0.400167167187	0.25091	T	0.06697	0.33080	T	-0.315645	0.07260	T	-0.139326	0.60176	T	0.022953874866104	0.01018	T	0.817618	0.47476	T	0.6573314	0.75756	0.53197056	0.72956	0.6573314	0.75757	0.53197056	0.72956	-3.896	0.22243	T	.	.	0.218	0.44834	B	.;.	.;.	3.788647	0.54517	23.5	0.99111258367509258	0.52725	0.98721	0.86006	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999762872	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.42	5.42	0.78666	5.660000	0.67687	3.319000	0.37529	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.0:1.0	13.703	0.62101	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008984	0.000000	0.001855	0.000000	0.000000	0.000000	0.035398	0.021053	0.05263	3265.83	34	chrX	14009058	.	T	A	3265.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.091;DP=826;ExcessHet=0.119;FS=1.025;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.86;SOR=0.727	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1413,0,1614	17	0	2	0
chrX	15823131	15823131	-	AGCCGC	exonic	ZRSR2	.	nonframeshift insertion	ZRSR2:NM_005089:exon11:c.1338_1339insAGCCGC:p.R448_R449insSR	.	348	1171	3	0	0	3	0.00127932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0	0	0	0.0002	0	0.0072	0.0007956	123	154602	rs757551420	0.0004	0.0004	0.0003	0.0007	0.0065	0.0004	0.0004	0.0059	0.0057	0	0	0	6.651e-05	0	0.0005	0.0001	0.0004	0.0065	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0031	0.0025	6.469e-05	0	0	0	0	0	0	0.0002	0	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1045.29	34	chrX	15823131	.	G	GAGCCGC	1045.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.15;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=1.63;SOR=0.665	GT:AD:DP:GQ:PL	0/1:35,28:63:99:1059,0,1261	18	0	1	0
chrX	32545247	32545247	T	A	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon17:c.A2056T:p.I686F,DMD:NM_004006:exon17:c.A2080T:p.I694F,DMD:NM_004009:exon17:c.A2068T:p.I690F,DMD:NM_004010:exon17:c.A1711T:p.I571F	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	656775	not_provided|Duchenne_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.235	0.597768347281	.	.	5.726e-05	0	0.0002	0	0	0	0	0.0003	5.17e-05	8	154602	rs777042810	1.732e-05	1.73e-05	1.089e-05	3.037e-05	0.0003	1.108e-05	8.93e-06	0.0002	0.0002	0	0	0	0	0	0	0	2.172e-05	0.0003	0	8.698e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.031	0.45756	D	0.064	0.58089	T	0.968	0.56581	D	0.655	0.52639	P	0.001988	0.37503	U	0.000000	0.964071	0.38385	D	.	.	.	0.03	0.73205	T	-1.48	0.41239	N	0.634	0.64733	-0.2999	0.74988	T	0.449	0.78407	T	10	0.26250732	0.43720	T	0.597768	0.96448	D	0.235	0.53788	0.27	0.21893	0.909786884629	0.90888	0.26844144637395306	0.26757	0.0842823598617	0.09510	0.782199859619	0.79260	T	0.292953	0.71342	T	-0.121939	0.32807	T	-0.0510223	0.66953	D	0.184718339782575	0.19528	T	0.892511	0.63332	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.35372	B	.;.;.;.;.	.;.;.;.;.	3.342546	0.46062	22.2	0.98814937551843651	0.46688	0.91006	0.52677	D	AEFDGIJ	.	.	.	.	.	.	.	.	.	0.499224387478286	0.20928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.64	5.64	0.86480	3.297000	0.51517	3.496000	0.38747	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.832	0.69784	843	0.36859	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3677.33	208	chrX	32545247	.	T	A	3677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.016;DP=1905;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.678;SOR=0.562	GT:AD:DP:GQ:PL	0/1:168,150:318:99:3691,0,4226	18	0	1	0
chrX	48060096	48060096	A	T	exonic	ZNF630	.	nonsynonymous SNV	ZNF630:NM_001037735:exon5:c.T346A:p.L116I,ZNF630:NM_001190255:exon5:c.T304A:p.L102I,ZNF630:NM_001282201:exon5:c.T346A:p.L116I	.	439	1081	1	1	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0060	0.00291391	0.0098	0.0012	0.0020	0	0.0366	0.0132	0.0091	0.0068	0.0065394	1011	154602	rs193081656	0.0098	0.0097	0.0098	0.0098	0.0105	0.0096	0.0096	0.0104	0.0103	0.0012	0.0016	0.0009	0	0.0262	0.0027	0.0105	0.0073	0.0059	0.0076	0.0079	0.0074	0.0083	0.0104	0.0072	0.0070	0.0097	0.0094	0.0016	0.0059	0.0042	0.0015	0	0.0306	0	0.0104	0.0013	0.0057	0.146	0.37536	T	0.162	0.33000	T	0.049	0.22227	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	3.16	0.07711	T	-0.83	0.31981	N	0.059	0.06720	-0.9435	0.42057	T	0.012	0.04416	T	9	0.0037114024	0.00069	T	.	.	.	0.018	0.03083	.	.	0.104622674875	0.10061	0.027475306951538325	0.02697	0.0433135789395	0.04667	0.354855388403	0.18635	T	0.006821	0.06247	T	-0.758708	0.00015	T	-0.850284	0.00956	T	0.00221283442811808	0.00023	T	0.647535	0.27137	T	0.14399561	0.33070	0.11213653	0.27056	0.14399561	0.33070	0.11213653	0.27055	-5.988	0.46179	T	.	.	0.182	0.39477	B	.;.;.;.;.	.;.;.;.;.	0.494990	0.08640	5.412	0.96621030806562314	0.30481	0.01565	0.05115	N	AEBI	.	.	.	.	.	.	.	.	.	3.93083641777829E-4	0.06820	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.96	0.68	0.17146	-0.095000	0.11043	0.376000	0.17729	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.188000	0.21541	0.6558:0.0:0.0:0.3442	3.671	0.07809	556	0.71678	.;.;.;.;.	.	.	.	.	.	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	0.002075	0.000000	0.003724	0.000000	0.000000	0.000000	0.004484	0.000000	0.02632	2077.33	57	chrX	48060096	.	A	T	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.436;DP=935;ExcessHet=0;FS=1.229;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-2.274;SOR=0.575	GT:AD:DP:GQ:PL	0/1:79,87:166:99:2091,0,1925	18	0	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S,GAGE13:NM_001098412:exon2:c.A39T:p.R13S,GAGE2E:NM_001127200:exon2:c.A39T:p.R13S,GAGE8:NM_012196:exon2:c.A39T:p.R13S	.	548	918	55	1	0	57	0.0301109	.	.	.	3977508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034783	0.047619	0.007092	0.026316	0.000000	0.000000	0.106383	0.062500	0.05882	141.51	23	chrX	49332776	.	A	T	141.51	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.383;DP=239;ExcessHet=0.1259;FS=19.26;InbreedingCoeff=-0.0903;MLEAC=2;MLEAF=0.059;MQ=28.2;MQRankSum=0.196;QD=8.84;ReadPosRankSum=1.38;SOR=0.006	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,44	15	0	2	2
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	0/1:139,562:701:99:15907,0,1857	0	4	15	0
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:574,74:648:99:.:.:978,0,19388:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:504,75:579:99:.:.:1294,0,18062:.	4	0	14	1
chrX	55146210	55146210	A	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T225G:p.D75E,FAM104B:NM_001166700:exon3:c.T225G:p.D75E,FAM104B:NM_001166701:exon3:c.T222G:p.D74E,FAM104B:NM_001166702:exon3:c.T213G:p.D71E,FAM104B:NM_001166703:exon3:c.T219G:p.D73E,FAM104B:NM_138362:exon3:c.T222G:p.D74E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00336546039708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379463690	9.107e-07	9.105e-07	1.361e-06	0	2.84e-05	0	0	.	.	0	2.84e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.264	0.22828	T	0.149	0.27956	B	0.017	0.22546	B	0.171170	0.17370	U	0.505297	1	0.08975	N	0.55	0.14455	N	1.0	0.41392	T	-0.96	0.25551	N	0.112	0.10769	-1.0585	0.12134	T	0.048	0.20553	T	10	0.07826704	0.12454	T	0.003365	0.07512	T	0.009	0.00846	0.252	0.19067	0.0551355673512	0.04727	0.051647314553259514	0.05106	0.0764936979613	0.08586	0.25351858139	0.04148	T	0.014848	0.12562	T	-0.50514	0.00535	T	-0.963375	0.00223	T	0.0227118526902052	0.00990	T	0.514149	0.16548	T	0.077768	0.17670	0.050646685	0.07992	0.077768	0.17670	0.050646685	0.07992	-2.894	0.09084	T	.	.	0.117	0.23883	B	.;.;.;.;.	.;.;.;.;.	0.845771	0.12176	8.724	0.62490180864030964	0.06976	0.01437	0.04829	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.99998673263003	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.67	0.17092	0.237000	0.17763	1.467000	0.26725	-0.273000	0.06669	0.001000	0.13787	0.001000	0.17328	0.000000	0.00833	0.3059:0.0:0.6941:0.0	3.328	0.06660	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	.	.	.	.	.	.	.	.	0.02632	717.33	574	chrX	55146210	.	A	C	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.752;DP=9617;ExcessHet=0;FS=0.857;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=0.287;SOR=0.771	GT:AD:DP:GQ:PL	0/1:462,59:521:99:731,0,17319	18	0	1	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	0/1:121,401:522:99:13389,0,2147	0	0	19	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	2759.58	426	chrX	55146226	.	A	G	2759.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=3.05;DP=7635;ExcessHet=0.119;FS=3.408;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=1.55;SOR=0.73	GT:AD:DP:GQ:PL	0/1:358,107:465:99:2171,0,12938	16	0	2	1
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	0/1:337,70:407:99:1160,0,12639	8	0	10	1
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:345,44:389:99:0|1:55146247_G_C:745,0,14203:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,42:371:99:0|1:55146247_G_C:750,0,13649:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:144,213:357:99:7205,0,4171	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,41:358:99:0|1:55146247_G_C:764,0,13148:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:95,187:282:99:6434,0,3036	0	0	19	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/1:185,65:250:99:1312,0,6406	8	0	9	2
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.1842	3092.38	36	chrX	74591904	.	A	G	3092.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.755;DP=1934;ExcessHet=2.9153;FS=4.408;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.76;MQRankSum=-11.41;QD=2.06;ReadPosRankSum=3.45;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:364,36:400:99:0|1:74591902_T_A:416,0,15176:74591902	12	0	7	0
chrX	77969510	77969510	C	G	exonic	PGAM4	.	nonsynonymous SNV	PGAM4:NM_001029891:exon1:c.G129C:p.Q43H	.	364	1145	9	4	0	17	0.00736888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	0.00238411	0.0012	0	0	0	0	0.0003	0	0.0093	0.0011707	181	154602	rs782759305	0.0005	0.0005	0.0004	0.0009	0.0082	0.0005	0.0005	0.0075	0.0073	0	0	0.0001	0	0	0.0039	0.0001	0.0005	0.0082	0.0003	0.0003	0.0002	0.0005	0.0074	0.0002	0.0002	0.0049	0.0041	6.464e-05	0	0	0	0.0003	0	0.0047	0.0002	0	0.0074	0.027	0.46513	D	0.097	0.39190	T	0.001	0.07471	B	0.005	0.11217	B	0.000322	0.45700	U	0.146227	1	0.81001	D	1.975	0.53506	M	-0.68	0.72568	T	-2.54	0.55025	D	0.204	0.22614	-0.9702	0.37157	T	0.186	0.53601	T	9	0.012154847	0.00262	T	.	.	.	0.119	0.33137	0.433	0.48336	0.839248048735	0.83771	0.8275707842876794	0.82715	0.454292210566	0.45126	0.663874030113	0.61963	T	0.308833	0.68090	T	-0.527466	0.00398	T	-0.523764	0.19914	T	0.0538092047338066	0.06158	T	0.677732	0.28664	T	0.2401301	0.46912	0.20442697	0.44565	0.2401301	0.46912	0.20442697	0.44564	-8.784	0.66296	D	.	.	0.244	0.47859	B	.	.	1.455753	0.18774	13.92	0.94821585504551165	0.25591	0.02231	0.06481	N	AEFI	.	.	.	.	.	.	.	.	.	0.059979271914791	0.15181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.119	0.13989	0.010000	0.13140	1.290000	0.25406	0.088000	0.17592	0.707000	0.28693	0.997000	0.33255	0.383000	0.26402	0.0:0.5435:0.0:0.4565	2.696	0.04818	393	0.83123	.	.	.	.	.	.	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	0.005170	0.000000	0.000000	0.011050	0.000000	0.000000	0.008969	0.016484	0.02632	2466.33	33	chrX	77969510	.	C	G	2466.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.462;DP=865;ExcessHet=0;FS=0.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=-0.595;QD=11.01;ReadPosRankSum=-0.977;SOR=0.634	GT:AD:DP:GQ:PL	0/1:122,102:224:99:2480,0,3117	18	0	1	0
chrX	83873855	83873855	G	T	exonic	CYLC1	.	nonsynonymous SNV	CYLC1:NM_021118:exon4:c.G1147T:p.D383Y	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0707718551319	0.0011	0.000264901	0.0008	0.0002	0.0003	0	0	0.0013	0.0022	0.0001	0.0006339	98	154602	rs143448675	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0012	0.0012	7.729e-05	0.0003	0.0009	0	4.978e-05	0.0010	0.0013	0.0014	0.0003	0.0008	0.0008	0.0008	0.0007	0.0014	0.0006	0.0006	0.0011	0.0010	0.0001	0	0.0005	0.0015	0	0	0	0.0014	0	0	0.041	0.41915	D	0.003	0.76473	D	0.987	0.61912	D	0.823	0.59197	P	.	.	.	.	1	0.08975	N	2.215	0.62545	M	1.86	0.24285	T	-3.1	0.63554	D	0.107	0.09207	-1.0560	0.12776	T	0.081	0.32031	T	9	0.021929264	0.00535	T	0.070772	0.71092	D	0.023	0.04649	.	.	0.043077524339	0.03247	7.809140513108194E-4	0.00072	0.00174734953048	0.00149	0.372232407331	0.21152	T	0.07123	0.34157	T	-0.641249	0.00082	T	-0.73442	0.04130	T	0.0496162527335584	0.05432	T	0.49605	0.15399	T	0.076202534	0.17219	0.112102374	0.27046	0.076202534	0.17219	0.112102374	0.27045	-6.93	0.53521	T	.	.	0.140	0.30739	B	.	.	1.718493	0.21882	15.39	0.49648201238373835	0.04246	0.05961	0.11920	N	AEFI	.	.	.	.	.	.	.	.	.	1.25534860360014E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	1.09	0.19517	-0.448000	0.06893	0.850000	0.22129	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.2625:0.2216:0.5159:0.0	3.253	0.06418	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1041.33	33	chrX	83873855	.	G	T	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.783;DP=709;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.184;SOR=0.665	GT:AD:DP:GQ:PL	0/1:37,40:77:99:1055,0,1013	18	0	1	0
chrX	93673116	93673136	GCTGCTGCTGCTGCCGCTGCC	-	exonic	NAP1L3	.	nonframeshift deletion	NAP1L3:NM_004538:exon1:c.169_189del:p.G57_S63del	.	390	1119	8	3	2	16	0.0062167	.	.	.	717878	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0494	0.00768212	0.0094	0.0009	0.0473	0	0.0010	0.0041	0.0064	0.0091	0.0057438	888	154602	rs760078060	0.0052	0.0052	0.0054	0.0048	0.0453	0.0051	0.0051	0.0434	0.0427	0.0008	0.0453	0.0001	9.98e-05	0.0014	0.0022	0.0040	0.0050	0.0078	0.0063	0.0066	0.0064	0.0060	0.0388	0.0059	0.0058	0.0357	0.0345	0.0011	0	0.0388	0	0	0.0010	0	0.0043	0.0095	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1829.29	37	chrX	93673115	.	TGCTGCTGCTGCTGCCGCTGCC	T	1829.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.373;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.399;SOR=0.76	GT:AD:DP:GQ:PL	0/1:68,50:118:99:1843,0,2566	18	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.1579	11282.4	48	chrX	107981733	.	G	C	11282.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.86;DP=1207;ExcessHet=0.0015;FS=1.134;InbreedingCoeff=0.6042;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.359;SOR=0.8	GT:AD:DP:GQ:PL	0/1:131,92:223:99:2355,0,3396	15	2	2	0
chrX	108539753	108539753	A	G	exonic	COL4A5	.	nonsynonymous SNV	COL4A5:NM_000495:exon2:c.A89G:p.Y30C	Alport syndrome, X-linked dominant	3	1514	1	4	0	9	0.00296345	.	.	YES	490707	COL4A5-related_disorder|not_provided|X-linked_Alport_syndrome	.|MedGen:C3661900|MONDO:MONDO:0010520,MedGen:C4746986,OMIM:301050,Orphanet:63,Orphanet:88917	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.447	0.0448715914512	0.0002	0.000794702	0.0003	0.0002	0	0	0	0.0001	0.0063	0.0017	0.0003363	52	154602	rs150305490	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	7.593e-05	0	0	0	2.472e-05	0.0007	7.863e-05	0.0003	0.0016	0.0001	0.0002	0.0001	0.0002	0.0023	8.277e-05	6.698e-05	0.0010	0.0007	3.26e-05	0	0	0	0	0.0002	0	9.427e-05	0.0013	0.0023	0.199	0.20456	T	0.205	0.28764	T	0.876	0.48154	P	0.221	0.37837	B	0.005115	0.33089	N	0.277370	0.876412	0.28123	N	0	0.06538	N	-2.74	0.90735	D	-1.35	0.33598	N	0.247	0.36884	-0.3563	0.73371	T	0.415	0.76238	T	10	0.018241912	0.00395	T	0.044872	0.61705	D	0.447	0.74866	.	.	0.794805502844	0.79289	0.8085143166290777	0.80806	0.372809165298	0.38767	0.427643716335	0.28887	T	0.121208	0.44400	T	-0.239941	0.15356	T	-0.162987	0.58083	T	0.036849917514546	0.03130	T	0.439856	0.13899	T	0.18523066	0.39877	0.16858834	0.38830	0.18523066	0.39876	0.16858834	0.38829	-2.197	0.04026	T	0.05981553240615715	0.01601	0.158	0.41249	B	.;.	.;.	2.401169	0.30846	18.56	0.97875648772626256	0.36567	0.86709	0.46048	D	AEFI	.	.	.	.	.	.	.	.	.	0.987719066638368	0.31327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.12	5.12	0.69459	2.022000	0.40651	7.823000	0.69822	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	10.467	0.43802	235	0.90838	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	690.33	33	chrX	108539753	.	A	G	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.345;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.125;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,34:76:99:704,0,1056	18	0	1	0
chrX	108733343	108733343	G	C	exonic	IRS4	.	nonsynonymous SNV	IRS4:NM_001379150:exon1:c.C3002G:p.P1001R,IRS4:NM_003604:exon1:c.C3002G:p.P1001R	.	419	1097	2	4	0	10	0.00453721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.216073712399	9.5e-05	0.000794702	0.0002	0	0	0	0	2.084e-05	0.0016	0.0012	0.0001682	26	154602	rs146350531	9.926e-05	9.925e-05	8.439e-05	0.0001	0.0015	8.405e-05	7.816e-05	0.0013	0.0012	0	2.84e-05	0	0	0	0.0010	1.306e-05	0.0002	0.0015	7.143e-05	9.568e-05	5.139e-05	0.0001	0.0026	3.466e-05	2.514e-05	0.0012	0.0009	0	0	0	0	0	0	0	0	0.0007	0.0026	0.018	0.50676	D	0.027	0.55341	D	0.003	0.11197	B	0.002	0.06944	B	0.794245	0.09373	N	0.894418	1	0.08975	N	0.975	0.24501	L	1.42	0.33189	T	-1.92	0.44657	N	0.029	0.00666	-1.0029	0.29080	T	0.050	0.21417	T	10	0.008463979	0.00192	T	0.216074	0.87540	D	0.049	0.13647	.	.	0.102598925029	0.09809	0.4129605071794875	0.41212	0.523465658131	0.50055	0.372723579407	0.21222	T	0.348317	0.71632	T	-0.712467	0.00031	T	-0.846627	0.01004	T	0.0450926078186567	0.04619	T	0.50435	0.15896	T	0.06619691	0.14220	0.1505559	0.35501	0.06619691	0.14219	0.1505559	0.35500	-5.605	0.42838	T	.	.	0.086	0.10787	B	.	.	1.455588	0.18774	13.92	0.99049293460451959	0.51207	0.52413	0.29126	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999817001463895	0.43459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99	1.9	0.24770	2.618000	0.46058	1.696000	0.28101	0.671000	0.69459	0.995000	0.38783	0.656000	0.25990	0.398000	0.26737	0.0878:0.2742:0.6379:0.0	8.508	0.32358	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1070.33	43	chrX	108733343	.	G	C	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.862;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.708;SOR=0.677	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1084,0,1464	18	0	1	0
chrX	115189832	115189832	C	T	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.C391T:p.R131C	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000768873293039	.	.	0.0001	0	0	0	0	0.0003	0	0	6.5e-06	1	154602	rs782457452	8.549e-06	9.105e-06	5.647e-06	1.452e-05	0.0002	4.02e-06	2.91e-06	6.65e-06	2.49e-06	4.014e-05	0	0	0	0	0.0002	4.881e-06	2.254e-05	4.011e-05	6.168e-05	6.085e-05	6.422e-05	5.613e-05	0.0001	2.859e-05	2.044e-05	4.267e-05	2.597e-05	0.0001	0	9.196e-05	0	0	0	0.0046	1.873e-05	0	0	0.068	0.35726	T	0.197	0.27855	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.66	0.04228	T	-1.42	0.34992	N	0.104	0.08786	-0.9360	0.43241	T	0.007	0.02244	T	9	0.047072053	0.03978	T	7.69E-4	0.00568	T	0.027	0.05988	.	.	0.0297737177859	0.01360	0.20780670028580128	0.20696	.	.	0.330996155739	0.15085	T	0.07233	0.34428	T	-0.658471	0.00064	T	-0.998352	0.00142	T	0.0394963994573468	0.03599	T	0.377862	0.09067	T	0.06620185	0.14223	0.07488705	0.16428	0.06620185	0.14223	0.07488705	0.16428	-5.43	0.41207	T	.	.	0.269	0.50324	B	.	.	0.046681	0.04612	1.281	0.95749103356766185	0.27718	0.00185	0.01079	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0127847749972568	0.12374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.616	-1.23	0.08977	-1.706000	0.01995	0.452000	0.18532	-3.002000	0.00141	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4895:0.2772:0.2334	3.958	0.08894	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1415.33	39	chrX	115189832	.	C	T	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=902;ExcessHet=0;FS=2.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=1.58;SOR=0.962	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1429,0,1325	18	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:36,23:63:99:108,0,427	2	0	17	0
chrX	136344796	136344796	A	G	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.A1090G:p.I364V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00922799656581	.	.	2.297e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs775240661	7.311e-06	7.285e-06	4.085e-06	1.389e-05	0.0001	3.15e-06	2.27e-06	7.366e-05	5.394e-05	0	0	0	0	0	0	0	0	0.0001	8.89e-06	8.694e-06	0	2.886e-05	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.04	0.44029	D	0.337	0.18178	T	0.028	0.22112	B	0.004	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.30669	T	0.02	0.07299	N	0.029	0.01274	-1.0379	0.17954	T	0.043	0.18701	T	9	0.049165994	0.04467	T	0.009228	0.24249	T	0.016	0.02506	0.26	0.20315	0.0846915920261	0.08053	0.0815900052916577	0.08093	0.0318762272791	0.03304	0.228279203176	0.01843	T	0.007394	0.06799	T	-0.612221	0.00123	T	-0.857511	0.00870	T	0.0486357772559787	0.05257	T	0.586841	0.21439	T	0.054563858	0.10487	0.10359523	0.24859	0.054563858	0.10486	0.10359523	0.24859	-3.769	0.20342	T	.	.	0.092	0.13783	B	.;.;.	.;.;.	0.719144	0.10881	7.555	0.73158051719343453	0.10227	0.28167	0.23479	N	AEFBI	.	.	.	.	.	.	.	.	.	0.996322334022658	0.34669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.95	2.73	0.31266	1.613000	0.36512	3.265000	0.37119	-0.102000	0.15922	0.787000	0.29557	0.987000	0.30940	0.048000	0.15020	0.8694:0.0:0.1306:0.0	6.070	0.19105	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2496.33	197	chrX	136344796	.	A	G	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=2193;ExcessHet=0;FS=3.245;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.202;SOR=0.945	GT:AD:DP:GQ:PL	0/1:99,96:195:99:2510,0,2505	18	0	1	0
chrX	154461462	154461462	A	G	exonic	PLXNA3	.	nonsynonymous SNV	PLXNA3:NM_017514:exon3:c.A958G:p.I320V	.	.	.	.	.	.	.	.	.	.	.	3220266	PLXNA3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.138	0.00552078093857	.	0.0018543	0.0008	0	0	0	0	0	0	0.0068	0.0007374	114	154602	rs782408788	0.0004	0.0004	0.0002	0.0007	0.0069	0.0004	0.0003	0.0064	0.0061	3.788e-05	0	0	9.933e-05	0	0.0005	5.938e-06	0.0007	0.0069	0.0003	0.0003	0.0002	0.0005	0.0112	0.0002	0.0002	0.0081	0.0071	0	0	0	0	0	0	0	0	0	0.0112	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.183274	0.17045	N	0.610619	0.998644	0.22015	N	.	.	.	4.28	0.02487	T	0.27	0.04306	N	0.104	0.08786	-0.9944	0.31459	T	0.003	0.00961	T	10	0.0111190975	0.00244	T	0.005521	0.14227	T	0.138	0.37187	0.649	0.78648	0.15499578495	0.15088	0.2151633246064452	0.21432	.	.	0.308013796806	0.11607	T	.	.	.	-0.816264	0.00006	T	-0.942255	0.00287	T	0.0145269108634048	0.00296	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00514	B	.	.	-1.252246	0.00481	0.010	0.19826402172744179	0.00686	0.01603	0.05200	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999995648121713	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.08	-6.33	0.01814	0.218000	0.17407	-2.611000	0.03550	-0.069000	0.16386	0.017000	0.19353	0.000000	0.08366	0.443000	0.27738	0.1726:0.0:0.8274:0.0	19.136	0.93413	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	.	.	.	.	.	.	.	.	0.02632	1738.33	44	chrX	154461462	.	A	G	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.788;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.404;SOR=0.72	GT:AD:DP:GQ:PL	0/1:45,67:112:99:1752,0,1096	18	0	1	0