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	NSWES925	WT	HH	HZ	NC
chr1	948169	948169	T	C	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon14:c.A1621G:p.I541V	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0149717844295	0.0002	0.00139776	0.0014	0	0.0009	0	0	0.0010	0	0.0035	0.0005498	85	154602	rs149625280	0.0004	0.0004	0.0003	0.0005	0.0029	0.0004	0.0004	0.0026	0.0025	0.0002	0.0004	0.0056	2.581e-05	0	0.0019	8.435e-05	0.0008	0.0029	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	9.617e-05	0	0.0003	0.0049	0	0	0	0.0001	0.0009	0.0029	0.25	0.17126	T	0.532	0.10034	T	0.22	0.30288	B	0.165	0.35019	B	0.000001	0.62929	N	0.056428	0.999891	0.50595	D	1.545	0.39105	L	0.81	0.48460	T	-0.55	0.16799	N	0.289	0.32701	-1.0071	0.27819	T	0.126	0.43091	T	10	0.011505872	0.00251	T	0.014972	0.35426	T	0.103	0.29403	.	.	0.433936292671	0.43013	0.3284553116022921	0.32758	.	.	0.423789799213	0.28358	T	0.062052	0.31814	T	-0.508102	0.00515	T	-0.505681	0.21759	T	0.31308576464653	0.25540	T	0.865113	0.56350	D	0.050782334	0.09228	0.06908342	0.14511	0.050782334	0.09227	0.06908342	0.14510	-6.103	0.47133	T	.	.	0.067	0.02428	B	.	.	1.473789	0.18978	14.03	0.93867190120136634	0.23876	0.93732	0.59033	D	AEFBI	0.208121	0.33423	N	-0.330079322880409	0.28010	1.541479	-0.300916123493313	0.28070	1.562175	0.0655655623791564	0.15365	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.2	2.88	0.32617	2.199000	0.42348	.	.	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.1054:0.0:0.8946	9.948	0.40791	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	0.003109	0.000000	0.000000	0.002941	0.050000	0.008929	0.003268	0.000000	0.05	764.43	35	chr1	948169	.	T	C	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.592;SOR=0.769	GT:AD:DP:GQ:PL	0/1:51,34:85:99:776,0,1198	9	0	1	0
chr1	1203820	1203820	G	A	exonic	TNFRSF18	.	nonsynonymous SNV	TNFRSF18:NM_148901:exon4:c.C539T:p.P180L	.	422	1092	8	0	0	8	0.00364964	.	.	.	2367828	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.0023979843075	7.9e-05	0.000199681	2.506e-05	0	0	0.0003	0	0	0	0	2.59e-05	4	154602	rs371611084	4.337e-05	4.925e-05	4.725e-05	3.943e-05	0.0005	3.452e-05	3.134e-05	0.0001	7.804e-05	0.0002	0.0001	0	0.0002	0	0.0005	2.359e-05	0.0002	1.201e-05	7.223e-05	7.218e-05	7.709e-05	6.714e-05	0.0002	3.968e-05	3.125e-05	4.728e-05	3.046e-05	0.0001	0	0.0001	0	0	0	0	4.411e-05	0	0.0002	0.0	0.91255	D	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.320867	0.04073	N	1.475580	1	0.08975	N	.	.	.	1.53	0.30401	T	-0.01	0.07155	N	0.106	0.09066	-1.0463	0.15447	T	0.049	0.21065	T	9	0.026540726	0.00818	T	0.002398	0.04701	T	0.034	0.08419	.	.	0.0551355673512	0.04727	0.08285049561815323	0.08220	0.022438488712	0.02255	0.43814855814	0.30324	T	.	.	.	-0.545642	0.00310	T	-0.742119	0.03802	T	0.0171319049974503	0.00458	T	0.332967	0.07033	T	.	.	.	.	.	.	.	.	-3.886	0.22092	T	.	.	0.153	0.33800	B	.	.	-0.054923	0.03919	0.866	0.54226538946007341	0.05095	0.02596	0.07160	N	AEFDBCIJ	0.046348	0.07686	N	-1.38415848357361	0.02786	0.1235214	-1.56103110538332	0.01901	0.08669975	0.994376927028903	0.33608	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	1.37	-2.74	0.05582	-0.743000	0.04950	-0.517000	0.08711	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1603:0.2531:0.2078:0.3787	0.627	0.00736	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	615.43	34	chr1	1203820	.	G	A	615.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.981;DP=387;ExcessHet=0;FS=2.694;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=0;SOR=0.532	GT:AD:DP:GQ:PL	0/1:17,23:40:99:627,0,396	9	0	1	0
chr1	1520306	1520306	G	C	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon6:c.G680C:p.R227T,ATAD3A:NM_001170536:exon6:c.G443C:p.R148T,ATAD3A:NM_018188:exon6:c.G824C:p.R275T	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	0.9967	0.786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	7.7e-05	.	8.363e-06	0	0	0	0	1.53e-05	0	0	6.5e-06	1	154602	rs375166649	1.096e-05	1.163e-05	1.09e-05	1.102e-05	1.441e-05	6.49e-06	5.25e-06	8.53e-06	6.9e-06	0	0	0	0	0	0	1.441e-05	0	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.1	0.30515	T	0.193	0.29346	T	0.015	0.17086	B	0.026	0.20792	B	0.000066	0.52346	N	0.164006	0.907432	0.38583	D	1.15	0.29295	L	2.32	0.94210	T	-2.71	0.58896	D	0.606	0.62781	-0.2505	0.76346	T	0.555	0.83752	D	10	0.6026807	0.67001	D	0.421246	0.93797	D	0.121	0.33580	.	.	0.877543109047	0.87634	0.6672544190079055	0.66663	0.517683661184	0.49627	0.453463196754	0.32417	T	0.085777	0.37578	T	0.0856056	0.62691	D	-0.0993239	0.63450	T	0.156610424939905	0.17618	T	0.920008	0.73035	D	0.10247292	0.24214	0.08022285	0.18127	0.10247292	0.24214	0.08022285	0.18127	-11.262	0.85455	D	.	.	0.191	0.43815	B	.;.;.	.;.;.	5.311232	0.89155	29.9	0.78694753780212623	0.12412	0.96345	0.68685	D	AEFDGBI	0.700362	0.65740	D	-0.551588068322093	0.20435	1.077163	-0.446203115186155	0.23656	1.29124	0.269415834149771	0.18876	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.28	1.87	0.24559	3.336000	0.51830	4.813000	0.45056	-0.278000	0.06506	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.2981:0.2966:0.4053:0.0	2.456	0.04253	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2443.43	39	chr1	1520306	.	G	C	2443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.357;DP=564;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.47;MQRankSum=0.842;QD=12.73;ReadPosRankSum=-1.069;SOR=0.662	GT:AD:DP:GQ:PL	0/1:81,111:192:99:2455,0,1804	9	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	308.22	27	chr1	7933282	.	T	C	308.22	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.686;DP=268;ExcessHet=3.8694;FS=112.452;InbreedingCoeff=-0.418;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.235;SOR=7.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,13:39:39:.:.:39,0,399:.	2	0	5	3
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	5513.28	34	chr1	10326244	.	G	C	5513.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-6.793;DP=1395;ExcessHet=4.5998;FS=275.809;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=1.84;SOR=11.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,53:221:99:0|1:10326244_G_C:381,0,5673:10326244	5	0	5	0
chr1	11046616	11046616	G	A	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon3:c.C352T:p.R118C,MASP2:NM_139208:exon3:c.C352T:p.R118C	MASP2 deficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	861924	not_provided|Immunodeficiency_due_to_MASP-2_deficiency	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.196	0.0203486810133	0.0007	.	0.0005	0	0.0012	0	0	0.0006	0.0011	0.0002	0.0004916	76	154602	rs147270785	0.0006	0.0006	0.0006	0.0006	0.0118	0.0006	0.0005	0.0095	0.0087	0.0002	0.0015	0.0018	5.038e-05	0	0.0118	0.0005	0.0013	0.0003	0.0007	0.0007	0.0006	0.0007	0.0020	0.0006	0.0005	0.0015	0.0013	0.0001	0	0.0020	0.0035	0	0	0.0374	0.0006	0.0009	0	0.017	0.54683	D	0.003	0.76473	D	0.549	0.38101	P	0.143	0.33763	B	0.216603	0.16237	N	0.598136	0.999987	0.54805	D	3.4	0.91674	M	1.53	0.30401	T	-6.08	0.91956	D	0.618	0.63374	-0.8585	0.51370	T	0.113	0.40422	T	10	0.06351003	0.08284	T	0.020349	0.42927	T	0.196	0.47777	.	.	0.395441342475	0.39163	0.5751989370524087	0.57448	0.0493437229553	0.05403	0.239645630121	0.02758	T	0.299704	0.67222	T	-0.377593	0.03226	T	-0.345241	0.39749	T	0.17278274587671	0.18768	T	0.789121	0.61998	T	0.41352314	0.61658	0.36465442	0.61830	0.48186597	0.66014	0.33992428	0.59750	-11.491	0.82283	D	0.8691492522195197	0.93036	0.152	0.63731	B	.;.	.;.	4.714732	0.75784	26.4	0.99729621974057814	0.82690	0.84381	0.43463	D	AEFDGBCI	0.675972	0.64118	D	0.195136265765871	0.50965	3.281694	0.232153287062051	0.51640	3.344804	0.999999998466884	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	2.232000	0.42663	6.528000	0.55850	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.884000	0.42379	0.0:0.0:0.8237:0.1763	11.777	0.51259	794	0.45591	CUB domain|CUB domain|CUB domain|CUB 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	0.012085	0.045455	0.012228	0.017544	0.050000	0.000000	0.000000	0.000000	0.05	709.43	34	chr1	11046616	.	G	A	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.16;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.131;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,26:61:99:721,0,747	9	0	1	0
chr1	13053644	13053644	G	A	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon2:c.C16T:p.R6W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349608012	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0002	7.666e-05	0.0001	0.0012	0	0.0001	0.0003	0.0002	0.0004	0.0018	0.0003	0.0005	0.0004	0.0003	0.0003	0.0002	0.0002	0.0004	0	0.0001	0.0003	0	0.0018	0	0.0003	0	0	.	.	.	0.223	0.25670	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.14763	.	.	.	.	.	.	.	0.09002277	0.15645	T	.	.	.	.	.	.	.	.	.	0.2499019846622074	0.24904	.	.	.	.	.	0.022696	0.17455	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.18	0.47761	T	.	.	0.115	0.23041	B	.	.	0.507142	0.08762	5.537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.344000	0.01178	-20.000000	0.00162	-1.642000	0.00838	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1288.43	76	chr1	13053644	.	G	A	1288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.93;DP=618;ExcessHet=0;FS=5.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.35;MQRankSum=4.85;QD=14.48;ReadPosRankSum=-1.382;SOR=1.144	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1300,0,681	9	0	1	0
chr1	13061428	13061428	C	T	exonic	HNRNPCL3;HNRNPCL4	.	nonsynonymous SNV	HNRNPCL4:NM_001302551:exon1:c.C104T:p.A35V,HNRNPCL3:NM_001382358:exon2:c.C104T:p.A35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320838661	9.564e-06	8.492e-06	9.711e-06	9.422e-06	0.0001	4.11e-06	2.97e-06	4.467e-05	2.665e-05	4.723e-05	0.0001	0	0	0	0	1.677e-06	2.58e-05	1.678e-05	3.352e-05	2.039e-05	2.105e-05	4.765e-05	0.0001	8.91e-06	4.47e-06	1.525e-05	6.33e-06	8.618e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	0.14019543	0.26651	T	.	.	.	.	.	.	.	.	.	0.16039158267001244	0.15960	.	.	.	.	.	0.030809	0.21752	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.454	0.70572	D	.	.	0.177	0.38587	B	.	.	1.341451	0.17480	13.19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.971000	0.56538	0.537000	0.19299	-1.675000	0.00794	1.000000	0.71638	0.065000	0.22112	0.011000	0.09372	.	.	.	.	.	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	108.44	19	chr1	13061428	.	C	T	108.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.294;DP=189;ExcessHet=0;FS=0;InbreedingCoeff=-0.0536;MLEAC=1;MLEAF=0.05;MQ=27;MQRankSum=0;QD=8.34;ReadPosRankSum=-1.001;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,5:13:99:120,0,215	9	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	336.1	40	chr1	15518245	.	C	T	336.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.497;DP=1203;ExcessHet=4.5998;FS=175.279;InbreedingCoeff=-0.3998;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.57;SOR=10.685	GT:AD:DP:GQ:PL	0/1:123,32:155:4:4,0,2954	4	0	6	0
chr1	15566144	15566144	G	T	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon12:c.G806T:p.G269V,DNAJC16:NM_015291:exon13:c.G1742T:p.G581V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0375384585736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.022	0.61642	D	0.664	0.41009	P	0.296	0.40883	B	0.025477	0.26083	N	0.485943	0.994313	0.42237	D	1.245	0.31408	L	-0.68	0.72568	T	-2.08	0.50666	N	0.143	0.30800	-0.9400	0.42616	T	0.173	0.51532	T	10	0.17178822	0.31916	T	0.037538	0.57677	D	0.121	0.33580	0.094	0.01195	0.79719598588	0.79531	0.3876681846110728	0.38681	0.204300164365	0.22853	0.389542192221	0.23605	T	0.024118	0.31127	T	-0.00973283	0.50303	T	-0.251757	0.49643	T	0.284907221794128	0.24377	T	0.812919	0.46506	T	0.052874118	0.09926	0.070262656	0.14906	0.052874118	0.09926	0.070262656	0.14905	-3.186	0.14869	T	.	.	0.087	0.11414	B	.;.;.;.	.;.;.;.	2.146113	0.27331	17.43	0.9807486610318864	0.38054	0.90949	0.52568	D	AEFBHCI	0.323270	0.42551	N	-0.233272567081523	0.31777	1.785202	-0.135518565529374	0.33971	1.948905	0.0121053498852716	0.12279	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	2.65	0.30588	3.100000	0.49966	2.031000	0.30254	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.2695:0.2174:0.5132:0.0	3.374	0.06809	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	.	.	.	.	.	.	.	.	0.05	109.43	38	chr1	15566144	.	G	T	109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.816;DP=248;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.44;ReadPosRankSum=0.582;SOR=0.693	GT:AD:DP:GQ:PL	0/1:12,5:17:99:121,0,354	9	0	1	0
chr1	16410043	16410043	C	T	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon4:c.G76A:p.E26K,SPATA21:NM_198546:exon6:c.G145A:p.E49K	.	399	1109	14	0	0	14	0.0062724	0.0682	0.342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0004	0.000599042	0.0010	0.0002	0.0011	0	0	0.0014	0.0026	0.0008	0.0009702	150	154602	rs201182640	0.0008	0.0008	0.0008	0.0008	0.0106	0.0008	0.0008	0.0083	0.0076	0.0004	0.0010	0.0049	0	1.96e-05	0.0106	0.0007	0.0017	0.0007	0.0007	0.0007	0.0008	0.0007	0.0012	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0012	0.0043	0	0	0.0136	0.0009	0.0019	0.0002	0.009	0.91255	D	0.036	0.62352	D	0.793	0.44725	P	0.196	0.36635	B	0.170082	0.17400	N	0.481200	0.708219	0.30039	N	2.255	0.64187	M	-0.86	0.74477	T	-1.73	0.41046	N	0.309	0.34874	-0.5983	0.64887	T	0.253	0.62258	T	10	0.0063958764	0.00146	T	0.02057	0.43191	T	0.221	0.51721	.	.	0.409124616982	0.40530	0.2156261966168259	0.21478	0.207277676253	0.23183	0.401835441589	0.25325	T	0.004957	0.04384	T	-0.379487	0.03139	T	-0.363435	0.37655	T	0.029477732060472	0.01909	T	0.591441	0.21800	T	0.08622826	0.20034	0.113605924	0.27418	0.08622826	0.20033	0.113605924	0.27417	-3.981	0.29216	T	.	.	0.104	0.32922	B	.;.	.;.	3.894111	0.56683	23.8	0.99815731946285613	0.89885	0.17090	0.19685	N	AEFDBI	0.117871	0.23073	N	-0.364218364561367	0.26753	1.462499	-0.432620193178793	0.24046	1.31461	0.999546033684751	0.40300	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	0.615	0.16784	-0.163000	0.09986	0.415000	0.18155	0.534000	0.24903	0.079000	0.22314	0.986000	0.30841	0.499000	0.28994	0.0:0.3971:0.6029:0.0	11.609	0.50307	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004601	0.010309	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	901.43	37	chr1	16410043	.	C	T	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.51;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=0.038;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,24:42:99:0|1:16410043_C_T:913,0,661:16410043	9	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	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:541,74:615:99:474,0,14951	0	0	10	0
chr1	16563970	16563970	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00252300938037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.12432957	0.23613	T	0.002523	0.05037	T	.	.	.	.	0.0297737177859	0.01360	0.028000079761831612	0.02750	.	.	0.583639860153	0.50598	T	.	.	.	-0.287952	0.09843	T	-0.651399	0.08856	T	.	.	.	0.764624	0.39166	T	.	.	.	.	.	.	.	.	-2.436	0.05358	T	.	.	0.881	0.81531	P	.	.	1.895493	0.24075	16.26	0.6732318401386217	0.08320	0.04228	0.09747	N	AEFDBCI	0.035611	0.04611	N	.	.	.	.	.	.	8.36429453886604E-4	0.07887	0.383005	0.05895	0	0.063085	0.00849	2	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	1.182000	0.31639	0.176000	0.15576	0.349000	0.19912	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	.	.	.	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	.	.	.	.	.	.	.	.	0.05	583.43	798	chr1	16563970	.	G	C	583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.21;DP=5679;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.73;MQRankSum=0.662;QD=0.81;ReadPosRankSum=-0.656;SOR=0.905	GT:AD:DP:GQ:PL	0/1:635,87:722:99:595,0,17260	9	0	1	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	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:693,99:792:99:525,0,18338	0	0	10	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	0.35	27604.9	1046	chr1	16564107	.	T	G	27604.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.873;DP=6880;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.41;MQRankSum=4.65;QD=5.15;ReadPosRankSum=0.56;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:601,166:767:99:.:.:3669,0,20356:.	3	0	7	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	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:450,110:560:99:1664,0,15980	0	0	10	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	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:258,278:536:99:6959,0,7648	1	0	9	0
chr1	16569128	16569128	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	388	1111	23	0	0	23	0.010245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0074	0.0196	0.0046	0.0329	0	0.0016	0.0066	0.0151	0.0059702	923	154602	rs373437793	0.0003	0.0004	0.0002	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	0.0004	0.0014	0	0.0007	0	0.0006	0.0001	0.0002	0.0012	0.0001	0.0002	7.938e-05	0.0002	0.0002	7.076e-05	5.588e-05	6.669e-05	4.616e-05	0.0002	0	0.0001	0	0	0	0	0.0001	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	0.009719	0.005263	0.014986	0.012712	0.055556	0.000000	0.003165	0.011538	0.05	802.43	147	chr1	16569128	.	G	A	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.899;DP=1820;ExcessHet=0;FS=2.406;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.88;MQRankSum=-1.196;QD=1.5;ReadPosRankSum=0.063;SOR=0.507	GT:AD:DP:GQ:PL	0/1:444,92:536:99:814,0,10887	9	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.25	3929.15	330	chr1	16577387	.	T	C	3929.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.94;DP=2502;ExcessHet=2.8389;FS=2.449;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=41.6;MQRankSum=-3.074;QD=3.11;ReadPosRankSum=-1.371;SOR=0.969	GT:AD:DP:GQ:PL	0/1:171,28:199:99:283,0,4611	5	0	5	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3571	1009.31	72	chr1	16579293	.	A	G	1009.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.23;DP=466;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.429;MQ=35.93;MQRankSum=0.756;QD=4.59;ReadPosRankSum=-1.271;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,7:22:99:0|1:16579293_A_G:249,0,605:16579293	2	0	5	3
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3125	1005.64	72	chr1	16579294	.	T	C	1005.64	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=465;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4289;MLEAC=6;MLEAF=0.375;MQ=35.91;MQRankSum=0.756;QD=4.57;ReadPosRankSum=-1.305;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,7:22:99:0|1:16579293_A_G:249,0,605:16579293	3	0	5	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.25	464.7	70	chr1	16579305	.	G	A	464.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.45;DP=449;ExcessHet=2.8389;FS=126.997;InbreedingCoeff=-0.3739;MLEAC=5;MLEAF=0.25;MQ=35.64;MQRankSum=0.725;QD=2.18;ReadPosRankSum=-1.5;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,4:21:99:0|1:16579305_G_A:100,0,676:16579305	5	0	5	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2	310.61	69	chr1	16579308	.	G	C	310.61	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.011;DP=446;ExcessHet=1.5895;FS=110.764;InbreedingCoeff=-0.2501;MLEAC=4;MLEAF=0.2;MQ=35.66;MQRankSum=0.683;QD=2.17;ReadPosRankSum=-1.139;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:77:0|1:16579305_G_A:77,0,650:16579305	6	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	0/1:79,23:102:99:464,0,2512	1	5	4	0
chr1	16970637	16970637	T	C	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon35:c.T5654C:p.V1885A	.	429	1069	23	1	0	25	0.011558	0.0518	0.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0063	0.0061901	0.0045	0.0173	0.0027	0	0.0003	0.0039	0.0020	0.0019	0.0028719	444	154602	rs145138931	0.0022	0.0022	0.0022	0.0022	0.0157	0.0021	0.0021	0.0145	0.0141	0.0157	0.0031	0.0046	0	0.0002	0.0157	0.0018	0.0036	0.0011	0.0059	0.0059	0.0062	0.0056	0.0149	0.0056	0.0054	0.0139	0.0135	0.0149	0	0.0044	0.0035	0	0.0002	0.0238	0.0025	0.0076	0.0015	0.161	0.23631	T	0.049	0.48336	D	.	.	.	.	.	.	.	.	.	.	0.999983	0.54805	D	.	.	.	2.69	0.12268	T	-1.91	0.44471	N	0.393	0.43417	-1.1434	0.01236	T	0.035	0.15117	T	9	0.008586884	0.00194	T	.	.	.	0.094	0.27141	.	.	0.29527378943	0.29149	0.14024493106812302	0.13947	0.283821864527	0.30819	0.550122499466	0.45875	T	.	.	.	-0.534833	0.00360	T	-0.529351	0.19352	T	0.0329127737931143	0.02457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.53701	B	.	.	3.778223	0.54311	23.5	0.99836410047426494	0.91714	0.80003	0.39760	D	AEFBCI	0.435927	0.49636	N	0.42390591296441	0.62739	4.494911	0.403996633573761	0.61814	4.386864	0.999999279184837	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.6	4.6	0.56512	5.240000	0.65201	2.798000	0.34835	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.0:0.0:1.0	12.282	0.54088	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	0.017189	0.020408	0.028610	0.023392	0.050000	0.000000	0.003086	0.011364	0.05	726.43	40	chr1	16970637	.	T	C	726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.63;DP=402;ExcessHet=0;FS=4.779;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.35;SOR=1.159	GT:AD:DP:GQ:PL	0/1:38,31:69:99:738,0,792	9	0	1	0
chr1	17623042	17623042	C	T	exonic	ARHGEF10L	.	nonsynonymous SNV	ARHGEF10L:NM_001319838:exon4:c.C401T:p.A134V,ARHGEF10L:NM_001328124:exon4:c.C401T:p.A134V,ARHGEF10L:NM_001011722:exon10:c.C950T:p.A317V,ARHGEF10L:NM_001319837:exon10:c.C950T:p.A317V,ARHGEF10L:NM_018125:exon12:c.C1067T:p.A356V	.	424	1082	16	0	0	16	0.00733945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0176440526779	0.0021	0.00179712	0.0022	0.0006	0.0003	0	0.0014	0.0023	0.0011	0.0055	0.0021216	328	154602	rs35659971	0.0022	0.0022	0.0020	0.0023	0.0080	0.0021	0.0021	0.0062	0.0055	0.0004	0.0005	0.0017	2.519e-05	0.0009	0.0080	0.0022	0.0025	0.0055	0.0016	0.0016	0.0016	0.0017	0.0062	0.0015	0.0014	0.0045	0.0039	0.0003	0	0.0009	0.0020	0	0.0007	0.0034	0.0026	0.0005	0.0062	0.299	0.15251	T	0.306	0.20100	T	0.0	0.07471	B	0.002	0.11217	B	0.577886	0.11173	N	0.804403	0.999999	0.08975	N	0	0.06538	N	-0.16	0.65378	T	-1.0	0.26422	N	0.157	0.21056	-1.0397	0.17404	T	0.090	0.34655	T	10	0.0067733526	0.00154	T	0.017644	0.39418	T	0.103	0.29403	.	.	0.0762999501168	0.06990	0.09400740215136058	0.09332	0.615612516959	0.56040	0.224384739995	0.01578	T	0.052887	0.29288	T	-0.597705	0.00151	T	-0.629558	0.10448	T	0.00217721451537952	0.00022	T	0.773323	0.40460	T	0.0624828	0.13055	0.107744366	0.25943	0.05382828	0.10243	0.12337631	0.29749	-9.775	0.73256	D	0.12272886089529615	0.11798	0.062	0.02518	B	.;.;.	.;.;.	0.243641	0.06237	2.689	0.96311318044302952	0.29383	0.05068	0.10861	N	AEFBI	0.121403	0.23605	N	-1.2777586872161	0.03944	0.1771396	-1.30463500787126	0.04370	0.2059634	0.97379884224457	0.29487	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.58	-4.86	0.02902	-0.975000	0.03900	-2.028000	0.04322	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.586000	0.31041	0.0:0.8063:0.0:0.1937	13.153	0.58923	862	0.33134	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.010101	0.000000	0.005848	0.000000	0.008621	0.012195	0.003788	0.05	1008.43	33	chr1	17623042	.	C	T	1008.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.61;DP=393;ExcessHet=0;FS=7.887;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.535;SOR=0.645	GT:AD:DP:GQ:PL	0/1:29,47:76:99:1020,0,697	9	0	1	0
chr1	24334661	24334661	G	A	exonic	GRHL3	.	nonsynonymous SNV	GRHL3:NM_001195010:exon3:c.G83A:p.R28Q,GRHL3:NM_021180:exon3:c.G236A:p.R79Q,GRHL3:NM_198173:exon3:c.G221A:p.R74Q,GRHL3:NM_198174:exon3:c.G221A:p.R74Q	Van der Woude syndrome 2, Autosomal dominant	428	1080	14	0	0	14	0.00643974	.	.	.	2011023	Van_der_Woude_syndrome_2	MONDO:MONDO:0011712,MedGen:C1847604,OMIM:606713,Orphanet:888	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.335	0.06388014343	.	0.000399361	0.0004	9.638e-05	8.646e-05	0	0	0.0002	0	0.0019	0.0003299	51	154602	rs534391501	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	8.97e-05	4.516e-05	0.0005	0	0	0.0031	9.9e-05	0.0004	0.0018	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	7.236e-05	0	0.0002	0.0006	0	0	0	0.0001	0.0005	0.0021	0.003	0.72154	D	0.006	0.92824	D	1.0	0.90584	D	0.928	0.66279	D	0.000005	0.62929	D	0.058906	0.997981	0.81001	D	2.565	0.75005	M	0.23	0.59717	T	-2.81	0.73893	D	0.378	0.43223	-0.1428	0.79096	T	0.410	0.75887	T	10	0.022968978	0.00588	T	0.06388	0.69106	D	0.335	0.65718	.	.	0.418159628064	0.41432	0.422662077019578	0.42183	1.17107731969	0.79766	0.543375909328	0.44922	T	0.569705	0.85732	D	-0.081701	0.39437	T	0.0966356	0.76684	D	0.232860723461265	0.22087	T	0.882912	0.60466	D	0.5762318	0.71402	0.43729585	0.67153	0.54921657	0.69913	0.41529933	0.65648	-3.181	0.15573	T	0.3452130181781596	0.44275	0.409	0.75204	A	.;.;.;.;.	.;.;.;.;.	5.400282	0.90437	31	0.99939239298135552	0.99734	0.94711	0.62067	D	AEFDBI	0.631516	0.61246	D	0.756497940984624	0.83330	7.988722	0.714576806346962	0.83487	8.034031	0.999999985641178	0.74766	0.653281	0.48532	0	0.627178	0.54094	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	5.1	5.1	0.68917	4.560000	0.60512	9.915000	0.82458	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.030	0.89205	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	0	0	1	0	0.002014	0.000000	0.000000	0.005848	0.050000	0.000000	0.000000	0.000000	0.05	759.43	34	chr1	24334661	.	G	A	759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.064;DP=401;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.389;SOR=0.833	GT:AD:DP:GQ:PL	0/1:48,36:84:99:771,0,1092	9	0	1	0
chr1	26168480	26168480	T	C	exonic	C1orf232	.	nonsynonymous SNV	C1orf232:NM_001364667:exon1:c.A20G:p.K7R,C1orf232:NM_001364669:exon1:c.A20G:p.K7R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.705e-06	7.524e-06	7.018e-06	0	0.0002	8.7e-07	5.9e-07	6.97e-05	4.209e-05	0	0	0	0	0	0	0	0	0.0002	1.971e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	0.614	0.10138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.51583	.	.	.	.	.	.	.	0.20744139	0.37040	T	.	.	.	.	.	.	.	.	.	0.08326414995136208	0.08260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476852	0.15517	T	0.23154041	0.45927	0.4165227	0.65734	0.23154041	0.45927	0.4165227	0.65734	-4.148	0.25995	T	.	.	0.121	0.25067	B	.;.	.;.	2.778229	0.36485	20.3	0.86908663220989202	0.16855	0.79606	0.39479	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999620940239346	0.41093	0.06567	0.01388	0	0.060609	0.00678	0	0.091372	0.02933	0	0.062806	0.01542	0	0.971475	0.73739	5.18	5.18	0.71140	1.853000	0.38998	5.011000	0.46670	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.856	0.57273	410	0.82135	.;.	.	.	.	.	.	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	1505.43	47	chr1	26168480	.	T	C	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.356;DP=492;ExcessHet=0;FS=0.695;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.38;SOR=0.597	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1517,0,1254	9	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	12275.9	45	chr1	26282323	.	A	*	12275.9	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.395;DP=333;ExcessHet=0;FS=12.7;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.87;MQRankSum=0;QD=24.48;ReadPosRankSum=-0.278;SOR=1.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,3:22:72:1|0:26282291_C_T:1073,785,786:26282291	6	0	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	8079.96	55	chr1	26282334	.	TGGGGCCG	*	8079.96	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.35;DP=378;ExcessHet=4.5998;FS=16.733;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=59.89;MQRankSum=0;QD=22.51;ReadPosRankSum=-0.863;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,3:24:66:1|0:26282291_C_T:1149,864,870:26282291	7	0	3	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	7970.94	64	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	7970.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.886;DP=414;ExcessHet=4.5998;FS=13.964;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=59.9;MQRankSum=0;QD=20.39;ReadPosRankSum=0.282;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,3:24:63:1|0:26282291_C_T:1146,864,912:26282291	7	0	3	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,21:24:75:1|1:26282291_C_T:1083,75,0:26282291	0	4	6	0
chr1	29148694	29148694	G	A	exonic	SRSF4	.	nonsynonymous SNV	SRSF4:NM_005626:exon6:c.C1201T:p.R401C	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00783323929991	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs760935315	1.026e-05	1.026e-05	9.529e-06	1.1e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	5.974e-05	0	0	0	0	0.0003	7.194e-06	1.656e-05	2.319e-05	1.315e-05	1.313e-05	0	2.689e-05	2.409e-05	2.18e-06	8.2e-07	.	.	2.409e-05	0	0	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.007	0.69154	D	0.001	0.07471	B	0.001	0.04355	B	0.899210	0.07344	N	1.053470	0.946953	0.37548	D	0.805	0.20218	L	2.97	0.09450	T	-0.54	0.16598	N	0.276	0.31253	-1.0717	0.09043	T	0.024	0.10284	T	10	0.12748411	0.24244	T	0.007833	0.20773	T	0.066	0.19193	.	.	0.138757226776	0.13463	0.48892942408184314	0.48812	0.304014704751	0.32724	0.243880808353	0.03150	T	0.031893	0.22246	T	-0.322639	0.06684	T	-0.519697	0.20324	T	0.21056792140007	0.20983	T	0.839416	0.51368	T	0.09929988	0.23434	0.05212554	0.08525	0.09929988	0.23434	0.05212554	0.08524	-8.594	0.65049	D	.	.	0.086	0.20896	B	.;.	.;.	4.194352	0.63243	24.6	0.99246700100374508	0.56727	0.92395	0.55613	D	AEFDGBHCI	0.608986	0.59836	D	-0.23105832313077	0.31865	1.791151	-0.0873252893944132	0.35914	2.083457	0.968407611204974	0.29050	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	2.61	0.30255	2.063000	0.41049	6.287000	0.55391	-0.108000	0.15293	0.989000	0.36753	1.000000	0.68203	0.854000	0.40426	0.0796:0.292:0.6284:0.0	8.463	0.32100	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2650.43	34	chr1	29148694	.	G	A	2650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=487;ExcessHet=0;FS=4.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=2.61;SOR=1.053	GT:AD:DP:GQ:PL	0/1:71,97:168:99:2662,0,1626	9	0	1	0
chr1	35764667	35764667	C	A	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon3:c.G181T:p.V61F,CLSPN:NM_001330490:exon3:c.G181T:p.V61F,CLSPN:NM_022111:exon3:c.G181T:p.V61F	.	431	1089	2	0	0	2	0.000917431	.	.	.	2371948	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.0087830815466	.	.	0.0002	0	0	0.0001	0	4.632e-05	0	0.0013	0.0001617	25	154602	rs148367321	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0009	0.0009	3.142e-05	0	0	5.069e-05	1.888e-05	0	0.0002	0.0003	0.0011	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	0.002	0.72154	D	0.12	0.51421	T	0.785	0.44430	P	0.258	0.39350	B	0.057353	0.22488	N	0.459798	0.971642	0.25642	N	2.42	0.70002	M	1.48	0.32958	T	-1.61	0.39119	N	0.251	0.28732	-1.0678	0.09903	T	0.056	0.23450	T	10	0.028873593	0.01016	T	0.008783	0.23172	T	0.018	0.03083	0.248	0.18447	0.0934897674506	0.08844	0.09250382552451873	0.09182	0.118575790678	0.13351	0.334983289242	0.15685	T	0.019693	0.15640	T	-0.451502	0.01107	T	-0.471768	0.25325	T	0.0988848583967573	0.12234	T	0.487551	0.16094	T	0.21532752	0.43962	0.13369219	0.32054	0.21532752	0.43962	0.13369219	0.32053	-5.025	0.39013	T	.	.	0.126	0.27523	B	.;.;.;.	.;.;.;.	1.326192	0.17311	13.09	0.99425898533871593	0.64032	0.76507	0.37528	D	AEFBI	0.083537	0.16925	N	-0.272023749363429	0.30233	1.683833	-0.160429118526701	0.33009	1.883757	0.999788028467876	0.43007	0.706298	0.61202	0	0.662677	0.63036	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.03	2.84	0.32241	0.861000	0.27540	0.869000	0.22297	-1.705000	0.00752	0.980000	0.35271	0.719000	0.26340	0.580000	0.30894	0.1273:0.6525:0.2201:0.0	12.396	0.54718	197	0.92378	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2339.12	34	chr1	35764667	.	C	A	2339.12	.	AC=2;AF=0.1;AN=20;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.99;SOR=0.744	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2362,234,0	9	1	0	0
chr1	44766875	44766875	A	G	exonic	KIF2C	.	nonsynonymous SNV	KIF2C:NM_001297655:exon19:c.A1898G:p.Y633C,KIF2C:NM_001297656:exon19:c.A1859G:p.Y620C,KIF2C:NM_001297657:exon19:c.A1682G:p.Y561C,KIF2C:NM_006845:exon20:c.A2021G:p.Y674C	.	.	.	.	.	.	.	.	.	.	.	3268960	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.686	0.105114770532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053975795	2.736e-06	2.736e-06	2.722e-06	2.75e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	1.159e-05	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.028	0.49613	D	0.021	0.59159	D	0.962	0.58756	D	0.846	0.62312	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.275	0.64647	M	-0.99	0.76037	T	-8.26	0.96915	D	0.85	0.84609	-0.2021	0.77617	T	0.339	0.70526	T	10	0.8004147	0.79451	D	0.105115	0.78006	D	0.686	0.88538	0.373	0.38503	0.825095527755	0.82344	0.7641538898779399	0.76363	1.15484510752	0.79333	0.661536097527	0.61630	T	0.176442	0.52639	T	0.360291	0.87274	D	0.279757	0.87110	D	0.991992712020874	0.82376	D	0.90391	0.66280	D	0.68445176	0.77210	0.6946919	0.82026	0.68445176	0.77211	0.6946919	0.82027	-3.352	0.24385	T	.	.	0.227	0.54718	B	.;.	.;.	4.661511	0.74412	26.2	0.99618031891766612	0.75233	0.99120	0.91519	D	AEFBHCI	0.921637	0.89541	D	0.436969885462199	0.63466	4.581077	0.488797387881352	0.67244	5.058398	0.999999999910495	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.527000	0.90409	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	1.0:0.0:0.0:0.0	15.997	0.80051	0	0.99858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4905.12	34	chr1	44766875	.	A	G	4905.12	.	AC=2;AF=0.1;AN=20;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.2;SOR=0.717	GT:AD:DP:GQ:PL	1/1:0,168:168:99:4928,504,0	9	1	0	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4519.12	9	chr1	50419106	.	G	*	4519.12	.	AC=4;AF=0.2;AN=20;DP=185;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.68;QD=26.27;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,10:13:96:1|0:50419101_CCGGCGG_C:556,108,96:50419101	6	0	4	0
chr1	53114758	53114758	C	T	exonic	SLC1A7	.	nonsynonymous SNV	SLC1A7:NM_001287595:exon3:c.G431A:p.R144Q,SLC1A7:NM_001287596:exon3:c.G431A:p.R144Q,SLC1A7:NM_006671:exon3:c.G431A:p.R144Q	.	423	1097	2	0	0	2	0.000910747	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	0.0687043301598	.	.	0.0002	0	0.0011	0	0	4.625e-05	0.0012	0.0004	0.0001488	23	154602	rs775909830	6.571e-05	6.704e-05	5.721e-05	7.431e-05	0.0005	5.499e-05	5.11e-05	0.0004	0.0003	0	0.0005	0	0	1.873e-05	0.0005	2.519e-05	9.947e-05	0.0004	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.635	0.77114	M	0.26	0.59314	T	-3.48	0.68999	D	0.935	0.94077	0.013	0.82525	D	0.472	0.79721	T	9	0.58627707	0.76437	D	0.068704	0.70524	D	0.559	0.81888	0.813	0.92857	0.770764899047	0.76866	0.9284019268100916	0.92818	0.455546103527	0.45228	0.673610806465	0.63353	T	0.309729	0.68173	T	0.0469464	0.57948	T	0.205504	0.83428	D	0.347977881170894	0.26939	T	0.996	0.99942	D	0.68147254	0.77048	0.61310595	0.77487	0.68147254	0.77050	0.61310595	0.77488	-12.815	0.88586	D	.	.	0.799	0.77246	P	.;.;.	.;.;.	6.643305	0.95528	35	0.99944487174125307	0.99868	0.98582	0.84349	D	AEFDBI	0.957574	0.97684	D	0.894502907137651	0.91486	10.90894	0.831718130841797	0.91905	11.13018	0.999999999999996	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.42	5.42	0.78666	7.534000	0.80907	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:1.0:0.0:0.0	19.235	0.93840	600	0.68026	.;.;.	.	.	.	.	.	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	1196.43	33	chr1	53114758	.	C	T	1196.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.52;DP=390;ExcessHet=0;FS=5.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0.395;SOR=1.422	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1208,0,793	9	0	1	0
chr1	74714632	74714632	T	G	splicing	CRYZ	NM_001889:exon5:c.429-2A>C;NM_001134759:exon3:c.18-2A>C;NM_001130043:exon5:c.429-2A>C;NM_001130042:exon6:c.429-2A>C	.	.	.	424	1096	2	0	0	2	0.000911577	0.9999	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.476e-05	0	0	0	0	4.503e-05	0	0	1.94e-05	3	154602	rs143597042	2.053e-06	2.052e-06	2.724e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213965	0.75204	D	0.133215	0.79103	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.834316	0.78857	27.0	0.99485679326044751	0.67124	0.98514	0.83591	D	AEFDGBHCI	.	.	.	1.03886609234376	0.96819	15.18799	0.875461787459055	0.94412	12.74069	0.99999999999874	0.74766	0.164513	0.03853	0	0.093163	0.02533	0	0.183335	0.04453	0	0.109871	0.03346	0	0.964009	0.67528	5.71	5.71	0.89031	6.933000	0.75689	7.789000	0.68848	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.0:0.0:1.0	15.640	0.76750	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1338.43	43	chr1	74714632	.	T	G	1338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.38;DP=428;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.499;SOR=0.625	GT:AD:DP:GQ:PL	0/1:34,59:93:99:1350,0,789	9	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1448.14	72	chr1	85158757	.	C	G	1448.14	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,19:59:99:.:.:195,0,464:.	3	0	7	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,111:237:99:.:.:3960,0,4613:.	1	5	4	0
chr1	100160474	100160474	C	T	exonic	LRRC39	.	nonsynonymous SNV	LRRC39:NM_001256387:exon3:c.G211A:p.E71K,LRRC39:NM_001256385:exon4:c.G211A:p.E71K,LRRC39:NM_001256386:exon4:c.G211A:p.E71K,LRRC39:NM_144620:exon4:c.G211A:p.E71K	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0636348000839	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221449458	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.26519	T	0.02	0.58613	D	0.998	0.73220	D	0.994	0.82059	D	0.000055	0.53742	D	0.000000	1	0.81001	D	1.59	0.40313	L	7.92	0.00327	T	-1.41	0.34795	N	0.772	0.77507	1.075	0.98725	D	0.001	0.00255	T	10	0.72701716	0.74042	D	0.063635	0.69028	D	0.321	0.64318	0.379	0.39482	0.661506781955	0.65867	0.4484688165803696	0.44764	0.313794435588	0.33667	0.689410150051	0.65621	T	0.029022	0.20890	T	-0.0169848	0.49282	T	-0.262174	0.48607	T	0.981681168079376	0.74053	D	0.926707	0.72990	D	0.27864414	0.50917	0.23696324	0.48982	0.27864414	0.50917	0.23696324	0.48981	-3.115	0.14245	T	.	.	0.25	0.52243	B	.;.;.;.	.;.;.;.	4.126993	0.61730	24.4	0.99913188027623856	0.98167	0.98047	0.79151	D	AEFBI	0.871021	0.79222	D	0.566884212103833	0.71118	5.602318	0.600398691944616	0.74970	6.228411	0.999999930185091	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.99	4.99	0.65942	7.152000	0.77009	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.645	0.91367	581	0.69614	.;.;.;.	.	.	.	.	.	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	797.43	35	chr1	100160474	.	C	T	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.799;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.123;SOR=0.686	GT:AD:DP:GQ:PL	0/1:56,38:94:99:809,0,1262	9	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	.	.	.	.	.	.	.	.	0.3571	1445.29	96	chr1	109508616	.	G	C	1445.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.994;DP=840;ExcessHet=2.8389;FS=240.489;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.33;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,27:107:99:.:.:157,0,1659:.	2	0	5	3
chr1	110223540	110223540	G	A	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.G1255A:p.D419N,KCNC4:NM_001377330:exon2:c.G1255A:p.D419N,KCNC4:NM_004978:exon2:c.G1255A:p.D419N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.110127376566	.	.	8.277e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs772738428	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.987e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	0	0	0	1.88e-05	0	3.597e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.365	0.11732	T	0.432	0.16570	T	0.066	0.23586	B	0.067	0.27542	B	0.000001	0.84330	D	0.094421	0.990706	0.41217	D	0.175	0.09039	N	-4.65	0.97938	D	-0.43	0.17834	N	0.206	0.22870	0.470	0.90122	D	0.771	0.92220	D	10	0.377281	0.53927	T	0.110127	0.78738	D	0.396	0.71084	0.376	0.38994	0.999280504799	0.99927	0.7840773956373859	0.78358	1.39290018686	0.85036	0.712470412254	0.68951	T	0.351676	0.71921	T	0.018	0.54084	T	-0.212208	0.53484	T	0.473510503768921	0.31660	T	0.911209	0.69822	D	0.18842502	0.40340	0.0975388	0.23220	0.18842502	0.40340	0.0975388	0.23220	-5.654	0.43282	T	.	.	0.169	0.37140	B	.;.;.	.;.;.	3.596044	0.50772	23.0	0.99139460717947392	0.53491	0.90858	0.52394	D	AEFGBI	0.467360	0.51462	N	-0.0411831355753287	0.39997	2.367891	0.131699085522004	0.46180	2.868204	0.998513228957087	0.37109	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	4.697000	0.61467	7.672000	0.64834	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3037:0.6963:0.0	12.944	0.57759	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	.	.	.	.	.	.	.	.	0.05	4122.43	37	chr1	110223540	.	G	A	4122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=688;ExcessHet=0;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.134;SOR=0.901	GT:AD:DP:GQ:PL	0/1:163,158:321:99:4134,0,3865	9	0	1	0
chr1	110341408	110341408	C	T	exonic	RBM15	.	nonsynonymous SNV	RBM15:NM_001201545:exon1:c.C2003T:p.A668V,RBM15:NM_022768:exon1:c.C2003T:p.A668V	Megakaryoblastic leukemia, acute	422	1039	57	4	0	65	0.0303313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0048	0.00559105	0.0061	0.0010	0.0040	0	0.0030	0.0067	0.0077	0.0129	0.0059572	921	154602	rs150900331	0.0060	0.0060	0.0056	0.0064	0.0229	0.0059	0.0058	0.0197	0.0185	0.0011	0.0042	0.0147	0	0.0034	0.0229	0.0056	0.0073	0.0127	0.0051	0.0051	0.0049	0.0052	0.0137	0.0048	0.0046	0.0110	0.0101	0.0009	0.0033	0.0054	0.0124	0.0002	0.0031	0.0238	0.0071	0.0076	0.0137	0.117	0.28271	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.494839	0.12016	N	0.710757	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-1.7	0.40468	N	0.055	0.03175	-0.9287	0.44328	T	0.009	0.03227	T	10	0.0030899048	0.00051	T	.	.	.	0.027	0.05988	.	.	0.117191471859	0.11215	0.2182879860972043	0.21744	0.713490700197	0.61819	0.405892670155	0.25888	T	0.297953	0.67053	T	-0.665341	0.00058	T	-0.717462	0.04919	T	0.00200101687308719	0.00021	T	0.679332	0.28809	T	0.04694136	0.07941	0.08194425	0.18665	0.04694136	0.07941	0.08194425	0.18664	-4.584	0.32322	T	.	.	0.073	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.796698	0.22840	15.78	0.95988238114539981	0.28380	0.33658	0.24881	N	ALL	0.181846	0.30916	N	-1.0320615013265	0.07945	0.3707962	-0.968512324056755	0.10497	0.529055	0.999999987827702	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.662433	0.64102	0	.	.	4.87	0.956	0.18731	0.682000	0.25015	0.428000	0.18294	-0.182000	0.10109	0.001000	0.13787	0.031000	0.21272	0.986000	0.61781	0.0:0.6211:0.0:0.3789	8.347	0.31441	872	0.31118	.;.;.;.;.	LAMTOR5	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.015152	0.021739	0.008772	0.150000	0.025862	0.024390	0.026515	0.05	2080.43	42	chr1	110341408	.	C	T	2080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=515;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.757;SOR=0.693	GT:AD:DP:GQ:PL	0/1:64,78:142:99:2092,0,1480	9	0	1	0
chr1	111414961	111414961	A	0	exonic	OVGP1	.	.	.	.	423	578	414	100	7	621	0.346893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1571.06	110	chr1	111414961	.	A	*	1571.06	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.5;DP=805;ExcessHet=0.2065;FS=0.523;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=2.12;SOR=0.756	GT:AD:DP:GQ:PL	0/1:72,53:125:99:1986,0,2814	6	0	4	0
chr1	111414970	111414970	A	0	exonic	OVGP1	.	.	.	.	427	574	414	100	7	621	0.348468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1837.02	110	chr1	111414970	.	A	*	1837.02	.	AC=4;AF=0.2;AN=20;DP=807;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=4.32;SOR=0.707	GT:AD:DP:GQ:PL	0/1:72,53:125:99:1986,0,2814	6	0	4	0
chr1	112913896	112913896	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1498A:p.V500I,SLC16A1:NM_003051:exon5:c.G1498A:p.V500I	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00579887363399	.	.	8.241e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs775789149	2.052e-06	2.052e-06	2.722e-06	1.375e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	3.826e-05	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.05245	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.227981	0.03499	N	1.660300	1	0.08975	N	0.55	0.14455	N	1.91	0.23283	T	-0.08	0.08187	N	0.176	0.20925	-1.0161	0.24980	T	0.012	0.04747	T	10	0.02623862	0.00795	T	0.005799	0.15072	T	0.024	0.04979	0.194	0.10571	0.110392049598	0.10638	0.1114119515998816	0.11070	0.27267148181	0.29773	0.374688088894	0.21502	T	0.09268	0.39053	T	-0.24671	0.14506	T	-0.592158	0.13480	T	0.0296397600322962	0.01935	T	.	.	.	0.057520118	0.11456	0.027764559	0.00953	0.057520118	0.11456	0.027764559	0.00953	-5.306	0.40003	T	.	.	0.087	0.11414	B	.;.	.;.	0.883975	0.12572	9.100	0.82721935294822513	0.14340	0.15420	0.18903	N	AEFBI	0.119331	0.23295	N	-0.776810929061314	0.13915	0.6891074	-0.660150425308615	0.17960	0.9573774	0.78596530235453	0.23930	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	1.91	0.24841	-0.045000	0.11957	-0.298000	0.10137	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.978000	0.57271	0.0:0.4979:0.3512:0.1509	5.613	0.16698	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	278.14	37	chr1	112913896	.	C	T	278.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.687;DP=470;ExcessHet=0.2348;FS=58.199;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=3.2;SOR=6.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,9:69:29:0|1:112913896_C_T:29,0,2400:112913896	8	0	2	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	722.66	82	chr1	112913901	.	C	G	722.66	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.427;DP=779;ExcessHet=1.5895;FS=141.989;InbreedingCoeff=-0.276;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.02;ReadPosRankSum=2.09;SOR=7.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,9:70:26:0|1:112913896_C_T:26,0,2442:112913896	6	0	4	0
chr1	113724885	113724885	C	T	exonic	PHTF1	.	nonsynonymous SNV	PHTF1:NM_001323049:exon6:c.G497A:p.R166Q,PHTF1:NM_006608:exon6:c.G497A:p.R166Q,PHTF1:NM_001323041:exon7:c.G497A:p.R166Q,PHTF1:NM_001323042:exon7:c.G497A:p.R166Q,PHTF1:NM_001323043:exon7:c.G497A:p.R166Q,PHTF1:NM_001323044:exon7:c.G371A:p.R124Q,PHTF1:NM_001323047:exon7:c.G497A:p.R166Q,PHTF1:NM_001323048:exon7:c.G497A:p.R166Q,PHTF1:NM_001323051:exon7:c.G371A:p.R124Q,PHTF1:NM_001323052:exon7:c.G497A:p.R166Q,PHTF1:NM_001323053:exon7:c.G497A:p.R166Q,PHTF1:NM_001323045:exon8:c.G371A:p.R124Q,PHTF1:NM_001323050:exon8:c.G371A:p.R124Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00290407327926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248952900	1.39e-06	3.42e-06	2.764e-06	0	9.061e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.888e-05	0	9.061e-07	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.075	0.34444	T	0.205	0.27145	T	0.93	0.51791	P	0.315	0.41566	B	0.026769	0.25864	N	0.324362	0.999999	0.81001	D	2.275	0.64647	M	.	.	.	-2.0	0.50175	N	0.494	0.53884	-1.1153	0.02651	T	0.046	0.19559	T	9	0.22958949	0.39890	T	0.002904	0.06133	T	0.078	0.22779	0.289	0.24921	0.302793454619	0.29890	0.4901743255973262	0.48937	0.185452631299	0.20850	0.563128709793	0.47709	T	0.083337	0.37031	T	0.0441479	0.57586	T	-0.174361	0.57043	T	0.899383723735809	0.55168	D	0.909209	0.67884	D	0.13367243	0.31084	0.07655979	0.16970	0.13367243	0.31084	0.07655979	0.16970	-5.422	0.42471	T	.	.	0.413	0.62216	A	.;.;.;.	.;.;.;.	3.957718	0.58026	23.9	0.99794740390073233	0.88017	0.90307	0.51379	D	AEFBI	0.374691	0.45950	N	0.0913328135511036	0.46060	2.852226	0.206440574438963	0.50203	3.214957	0.296753784957883	0.19146	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.29	4.36	0.51643	3.079000	0.49802	6.015000	0.52706	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9164:0.0:0.0836	11.654	0.50569	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	563.43	34	chr1	113724885	.	C	T	563.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.588;DP=333;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.027;SOR=0.477	GT:AD:DP:GQ:PL	0/1:24,29:53:99:575,0,539	9	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:62,30:102:99:216,0,835	0	0	10	0
chr1	119841481	119841481	G	A	exonic	NBPF7	.	nonsynonymous SNV	NBPF7:NM_001047980:exon3:c.C458T:p.P153L	.	425	1081	16	0	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.014377	0.0084	0.0004	0.0008	0.0010	0	0.0001	0.0055	0.0592	0.0072832	1126	154602	rs183775485	0.0037	0.0037	0.0022	0.0053	0.0571	0.0037	0.0036	0.0558	0.0552	0.0005	0.0003	3.963e-05	0.0024	0	0.0013	9.113e-05	0.0042	0.0571	0.0021	0.0021	0.0012	0.0031	0.0628	0.0019	0.0019	0.0570	0.0547	0.0002	0	6.533e-05	0	0.0014	0	0	7.352e-05	0	0.0628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.026515	0.1	2550.14	34	chr1	119841481	.	G	A	2550.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.46;DP=541;ExcessHet=0.2348;FS=0.987;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.332;SOR=0.779	GT:AD:DP:GQ:PL	0/1:77,54:131:99:1297,0,1873	8	0	2	0
chr1	120005529	120005529	C	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon3:c.G215A:p.R72H,NOTCH2:NM_024408:exon3:c.G215A:p.R72H	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	1	1514	6	1	0	8	0.00263505	.	.	.	364427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0002	0.00519169	0.0035	0.0002	8.975e-05	0.0004	0	0.0001	0.0023	0.0241	0.0012679	33	26028	rs201838650	0.0015	0.0015	0.0009	0.0022	0.0243	0.0015	0.0015	0.0234	0.0230	0.0002	0.0001	7.659e-05	0.0004	0	0.0003	3.254e-05	0.0015	0.0243	0.0008	0.0008	0.0004	0.0012	0.0228	0.0007	0.0006	0.0193	0.0180	2.435e-05	0	0.0001	0	0.0002	0	0	4.441e-05	0.0010	0.0228	0.55	0.06585	T	0.172	0.34716	T	0.656	0.40834	P	0.253	0.39112	B	0.006021	0.32339	U	0.000000	1	0.08975	N	0.425	0.12573	N	0.42	0.56937	T	-0.79	0.21860	N	0.352	0.45047	-1.1083	0.03219	T	0.042	0.17910	T	10	0.015218258	0.00319	T	.	.	.	0.093	0.26882	.	.	0.586462102955	0.58320	0.38202645344111025	0.38117	1.42373316533	0.85663	0.414664924145	0.27102	T	0.54962	0.84726	D	-0.499828	0.00573	T	-0.472491	0.25248	T	0.0215367702644792	0.00857	T	0.889911	0.62289	D	0.044176515	0.07017	0.039038505	0.03907	0.048702903	0.08529	0.035759732	0.02889	-4.167	0.26272	T	.	.	0.074	0.22537	B	.;.;.	.;.;.	3.222316	0.43907	21.8	0.99500351401923359	0.67973	0.45660	0.27588	N	AEFBI	0.068410	0.13493	N	-0.0910239517460659	0.37786	2.20338	0.0427882768521916	0.41723	2.511555	4.26304549591561E-4	0.06935	0.706298	0.61202	0	0.60822	0.50512	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.4	3.51	0.39297	1.983000	0.40270	1.308000	0.25520	0.433000	0.20966	0.800000	0.29721	1.000000	0.68203	0.992000	0.67800	0.0:0.673:0.1581:0.1689	6.567	0.21715	889	0.27310	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;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	0.003727	0.000000	0.000000	0.008850	0.000000	0.000000	0.000000	0.008696	0.05	1200.43	33	chr1	120005529	.	C	T	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.2;DP=426;ExcessHet=0;FS=1.735;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.55;MQRankSum=-0.265;QD=11.65;ReadPosRankSum=0.633;SOR=0.91	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1212,0,1265	9	0	1	0
chr1	120157055	120157055	G	A	exonic	SEC22B	.	stopgain	SEC22B:NM_004892:exon5:c.C631T:p.R211X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.334e-06	1.642e-05	1.043e-05	6.164e-06	3.363e-05	4.47e-06	3.27e-06	4.9e-06	2.44e-06	3.363e-05	0	0	0	0	0	7.853e-06	0	2.955e-05	6.572e-06	6.563e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.70175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.764922	0.96839	36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.557000	0.60491	6.672000	0.56282	0.479000	0.22080	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	.	.	.	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	920.43	34	chr1	120157055	.	G	A	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.112;DP=399;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.09;MQRankSum=-3.605;QD=10.83;ReadPosRankSum=0.404;SOR=0.955	GT:AD:DP:GQ:PL	0/1:43,42:85:99:932,0,910	9	0	1	0
chr1	120449241	120449241	C	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.C827T:p.A276V	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782789067	0.0006	0.0022	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	6.761e-05	0.0002	0	3.756e-05	0.0005	0.0008	0.0004	0.0002	9.259e-05	0.0006	0.0001	8.128e-05	0.0004	5.562e-05	4.392e-05	7.395e-05	5.118e-05	2.425e-05	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	155.43	91	chr1	120449241	.	C	T	155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.835;DP=793;ExcessHet=0;FS=4.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.84;MQRankSum=-2.305;QD=0.55;ReadPosRankSum=2.19;SOR=0.518	GT:AD:DP:GQ:PL	0/1:243,41:284:99:167,0,5792	9	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	864.97	118	chr1	145872713	.	C	G	864.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.812;DP=1235;ExcessHet=4.5998;FS=146.997;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.198;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,22:97:99:0|1:145872713_C_G:114,0,2062:145872713	4	0	6	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	.	.	.	.	.	.	.	.	0.3	816.97	118	chr1	145872714	.	C	G	816.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.066;DP=1182;ExcessHet=4.5998;FS=151.643;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.04;SOR=10.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,22:97:99:0|1:145872713_C_G:114,0,2062:145872713	4	0	6	0
chr1	145901662	145901662	A	G	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon8:c.T868C:p.Y290H,ITGA10:NM_001303040:exon9:c.T904C:p.Y302H,ITGA10:NM_003637:exon12:c.T1297C:p.Y433H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.00177112488701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	0.42122	T	-4.86	0.81187	D	0.931	0.93959	.	.	.	.	.	.	.	0.87554693	0.86843	D	.	.	.	.	.	.	.	.	.	0.9844711067584849	0.98440	.	.	.	.	.	0.616649	0.87926	D	.	.	.	.	.	.	.	.	.	0.89941	0.71398	D	.	.	.	.	.	.	.	.	-11.456	0.82100	D	.	.	0.975	0.90256	P	.;.	.;.	4.688912	0.75117	26.3	.	.	.	.	.	.	0.819705	0.74067	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.510000	0.90360	11.149000	0.87296	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	.	.	.	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	.	.	.	.	.	.	.	.	0.05	279.43	33	chr1	145901662	.	A	G	279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.95;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=0.217;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,12:43:99:291,0,744	9	0	1	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F,NBPF11:NM_001385470:exon6:c.G475T:p.V159F,NBPF11:NM_001385477:exon6:c.G250T:p.V84F,NBPF11:NM_001385480:exon6:c.G250T:p.V84F,NBPF11:NM_001101663:exon7:c.G475T:p.V159F,NBPF11:NM_001385469:exon7:c.G475T:p.V159F,NBPF11:NM_001385475:exon7:c.G475T:p.V159F,NBPF11:NM_001385479:exon7:c.G250T:p.V84F,NBPF11:NM_183372:exon7:c.G475T:p.V159F,NBPF11:NM_001385471:exon8:c.G475T:p.V159F,NBPF11:NM_001385474:exon8:c.G475T:p.V159F,NBPF11:NM_001385478:exon8:c.G250T:p.V84F,NBPF11:NM_001385472:exon9:c.G475T:p.V159F,NBPF11:NM_001385473:exon9:c.G475T:p.V159F,NBPF11:NM_001385476:exon9:c.G475T:p.V159F	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	263.43	41	chr1	148123871	.	C	A	263.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.379;DP=341;ExcessHet=0;FS=3.225;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.25;MQRankSum=0.29;QD=7.53;ReadPosRankSum=0.957;SOR=1.409	GT:AD:DP:GQ:PL	0/1:23,12:35:99:275,0,591	9	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	7396.95	178	chr1	149075685	.	C	A	7396.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.26;DP=3367;ExcessHet=7.0302;FS=5.633;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=47.89;MQRankSum=-6.342;QD=2.9;ReadPosRankSum=-2.292;SOR=1.254	GT:AD:DP:GQ:PL	0/1:366,80:446:99:1050,0,9620	3	0	7	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	151.3	91	chr1	149476006	.	G	A	151.3	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.87;DP=868;ExcessHet=0.2348;FS=25.359;InbreedingCoeff=-0.1181;MLEAC=2;MLEAF=0.1;MQ=35.83;MQRankSum=-2.675;QD=0.56;ReadPosRankSum=-3.021;SOR=3.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,13:161:53:0|1:149476000_C_A:53,0,5985:149476000	8	0	2	0
chr1	149488149	149488149	G	C	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1177C:p.E393Q	.	530	962	28	2	0	32	0.0163599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00060867098707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474159899	0.0034	0.0026	0.0020	0.0046	0.0225	0.0033	0.0032	0.0215	0.0211	0.0002	0.0014	0.0040	0	0.0002	0.0141	0.0010	0.0026	0.0225	0.0013	0.0014	0.0012	0.0015	0.0187	0.0012	0.0011	0.0152	0.0140	0.0002	0	0.0011	0.0054	0	0	0.0070	0.0010	0.0021	0.0187	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.14622	-1.0889	0.05718	T	0.035	0.15074	T	9	0.0548667	0.05907	T	6.09E-4	0.00289	T	.	.	0.821	0.93395	0.0666544352282	0.05500	.	.	.	.	0.57171189785	0.48920	T	0.014894	0.12595	T	-0.0565468	0.43446	T	-0.319002	0.42685	T	0.621665894985199	0.37274	D	0.722728	0.39577	T	0.046422713	0.07767	0.05308705	0.08876	0.046422713	0.07767	0.05308705	0.08875	-9.616	0.71579	D	.	.	0.245	0.47923	B	.;.	.;.	0.888687	0.12623	9.147	0.98128739072125104	0.38498	0.01707	0.05422	N	AEFI	0.030943	0.03210	N	-0.304474474754588	0.28978	1.602928	-0.640070078323218	0.18468	0.9866734	1.56385238301757E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	0.698	0.17247	0.194000	0.16941	-0.724000	0.07692	0.184000	0.17816	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.803	0.12670	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	338.15	23	chr1	149488149	.	G	C	338.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.7;DP=161;ExcessHet=0.2348;FS=6.1;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=37.89;MQRankSum=-0.552;QD=10.25;ReadPosRankSum=0.458;SOR=2.16	GT:AD:DP:GQ:PL	0/1:9,9:18:99:254,0,241	8	0	2	0
chr1	150966240	150966240	C	A	exonic	CERS2	.	nonsynonymous SNV	CERS2:NM_022075:exon11:c.G1051T:p.G351W,CERS2:NM_181746:exon11:c.G1051T:p.G351W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0142710127594	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	.	8.915e-06	1.026e-05	8.19e-06	9.647e-06	4.67e-05	4.98e-06	3.83e-06	1.59e-05	9.35e-06	0	0	0	2.52e-05	0	0	6.301e-06	1.66e-05	4.67e-05	6.572e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.015	0.52492	D	0.016	0.60972	D	0.975	0.58077	D	0.782	0.57384	P	0.011671	0.29444	N	0.346312	0.999997	0.58761	D	0	0.06538	N	2.85	0.10578	T	-1.38	0.34198	N	0.371	0.41261	-1.0917	0.05254	T	0.094	0.35578	T	10	0.26894778	0.44417	T	0.014271	0.34274	T	0.168	0.42943	0.222	0.14518	0.151262610727	0.14761	0.2308002791553938	0.22995	1.3909633865	0.84999	0.53301602602	0.43460	T	0.347252	0.71540	T	-0.120892	0.32977	T	-0.41143	0.32060	T	0.806931845773586	0.46832	D	0.814119	0.46793	T	0.23180568	0.45958	0.17471574	0.39887	0.23180568	0.45958	0.17471574	0.39887	-8.252	0.62774	D	.	.	0.280	0.51271	B	.;.	.;.	4.665203	0.74508	26.2	0.99079217995267488	0.51930	0.97837	0.77499	D	AEFDBCI	0.926807	0.90850	D	0.741596633151981	0.82357	7.742458	0.761513791513941	0.87014	9.078339	0.999999999999997	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.54	5.54	0.82907	7.137000	0.76892	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.287	0.94064	117	0.95266	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	774.43	37	chr1	150966240	.	C	A	774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.652;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=2.07;SOR=0.718	GT:AD:DP:GQ:PL	0/1:21,34:55:99:786,0,493	9	0	1	0
chr1	151168266	151168266	C	T	exonic	SCNM1;TNFAIP8L2-SCNM1	.	nonsynonymous SNV	TNFAIP8L2-SCNM1:NM_001204848:exon6:c.C416T:p.A139V,SCNM1:NM_001204856:exon6:c.C416T:p.A139V,SCNM1:NM_024041:exon6:c.C521T:p.A174V	.	425	1066	31	0	0	31	0.0143319	.	.	.	2809247	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.0023350239851	0.0042	0.00319489	0.0042	0.0011	0.0016	0	0.0008	0.0051	0.0022	0.0079	0.0042237	653	154602	rs138637165	0.0054	0.0054	0.0054	0.0055	0.0109	0.0053	0.0053	0.0088	0.0080	0.0009	0.0023	0.0040	2.519e-05	0.0007	0.0109	0.0059	0.0051	0.0081	0.0036	0.0036	0.0037	0.0035	0.0101	0.0033	0.0032	0.0079	0.0071	0.0009	0	0.0042	0.0052	0	0.0004	0.0102	0.0053	0.0047	0.0101	0.306	0.18956	T	0.392	0.16914	T	0.005	0.12996	B	0.005	0.11217	B	0.112343	0.19361	N	0.517672	1	0.08975	N	2.05	0.56469	M	.	.	.	-0.96	0.25551	N	0.09	0.09066	-1.0303	0.20357	T	0.030	0.12892	T	9	0.0028794706	0.00046	T	0.002335	0.04507	T	0.034	0.08419	.	.	0.139678290688	0.13603	0.14622092655761348	0.14544	0.329677795498	0.35074	0.324216008186	0.14058	T	0.019554	0.15555	T	-0.540222	0.00334	T	-0.543077	0.17995	T	0.00682220094844182	0.00077	T	0.760924	0.38541	T	0.035497822	0.04190	0.035514936	0.02818	0.035497822	0.04190	0.035514936	0.02818	-3.908	0.22423	T	.	.	0.088	0.13737	B	.;.;.	.;.;.	1.910264	0.24259	16.33	0.9809805084394706	0.38245	0.19355	0.20628	N	AEFBI	0.105321	0.21047	N	-0.637466549262335	0.17826	0.9206538	-0.592145196668269	0.19696	1.057959	0.999720127749286	0.42220	0.719381	0.83141	0	0.723133	0.82719	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.5	2.43	0.28797	1.402000	0.34209	1.629000	0.27729	0.596000	0.33519	0.019000	0.19563	0.588000	0.25656	0.547000	0.30103	0.3234:0.5907:0.0:0.0859	6.349	0.20570	116	0.95299	.;.;.	.	.	.	.	rs138637165	Likely benign	0	0	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	0.008560	0.000000	0.009511	0.008772	0.000000	0.000000	0.018293	0.007576	0.05	762.43	33	chr1	151168266	.	C	T	762.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.481;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.129;SOR=0.678	GT:AD:DP:GQ:PL	0/1:33,30:63:99:774,0,844	9	0	1	0
chr1	151171494	151171494	G	C	exonic	TMOD4	.	nonsynonymous SNV	TMOD4:NM_013353:exon7:c.C665G:p.A222G	.	427	1063	31	1	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0300531549822	0.0042	0.00319489	0.0042	0.0011	0.0016	0	0.0008	0.0051	0.0022	0.0079	0.004269	660	154602	rs28730722	0.0054	0.0054	0.0054	0.0055	0.0109	0.0053	0.0053	0.0088	0.0080	0.0009	0.0023	0.0040	2.519e-05	0.0007	0.0109	0.0059	0.0051	0.0081	0.0036	0.0036	0.0037	0.0035	0.0101	0.0033	0.0032	0.0079	0.0071	0.0009	0	0.0042	0.0052	0	0.0003	0.0102	0.0053	0.0047	0.0101	0.19	0.21144	T	0.292	0.20877	T	0.0	0.02946	B	0.0	0.01387	B	0.001090	0.40303	N	0.286169	0.999951	0.19072	N	0.14	0.08730	N	-2.97	0.92007	D	-0.92	0.24676	N	0.06	0.03175	-0.6754	0.61584	T	0.297	0.66811	T	10	0.010505557	0.00233	T	0.030053	0.52447	D	0.231	0.53208	.	.	0.949542646765	0.94901	0.15439785008813325	0.15360	0.260443566416	0.28611	0.248093739152	0.03570	T	0.080112	0.36288	T	-0.423893	0.01616	T	-0.375979	0.36192	T	0.00660717084474392	0.00074	T	0.572743	0.20478	T	0.06913606	0.15121	0.1036353	0.24870	0.06913606	0.15121	0.1036353	0.24869	-2.016	0.03242	T	.	.	0.081	0.08033	B	.	.	2.116732	0.26944	17.29	0.98286162977844094	0.39907	0.72186	0.35342	D	AEFDBCI	0.147669	0.27139	N	-0.437877967492058	0.24153	1.302159	-0.237844959087075	0.30192	1.697849	0.999627288306964	0.41093	0.421363	0.06395	0	0.573116	0.20632	0	0.536957	0.11973	0	0.508809	0.08732	0	.	.	5.89	2.79	0.31792	1.668000	0.37097	5.650000	0.49179	0.676000	0.76740	0.787000	0.29557	1.000000	0.68203	0.986000	0.61781	0.0736:0.192:0.628:0.1064	7.425	0.26266	114	0.95383	.	.	.	.	.	rs28730722	Uncertain significance	0	0	0	0	0	0	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	0.009511	0.008772	0.000000	0.008621	0.018293	0.015152	0.05	2128.43	35	chr1	151171494	.	G	C	2128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.515;DP=492;ExcessHet=0;FS=1.219;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.464;SOR=0.589	GT:AD:DP:GQ:PL	0/1:78,89:167:99:2140,0,1917	9	0	1	0
chr1	151177011	151177011	A	G	exonic	VPS72	.	nonsynonymous SNV	VPS72:NM_001271087:exon6:c.T761C:p.V254A,VPS72:NM_005997:exon6:c.T728C:p.V243A	.	414	1077	31	0	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.009	0.00678914	0.0057	0.0169	0.0025	0	0.0008	0.0054	0.0039	0.0087	0.0054721	846	154602	rs78427992	0.0060	0.0059	0.0060	0.0059	0.0191	0.0058	0.0058	0.0178	0.0174	0.0191	0.0034	0.0040	2.542e-05	0.0007	0.0138	0.0059	0.0066	0.0081	0.0079	0.0080	0.0082	0.0077	0.0161	0.0076	0.0074	0.0151	0.0147	0.0161	0	0.0056	0.0052	0	0.0004	0.0136	0.0053	0.0095	0.0102	0.793	0.03175	T	0.752	0.04772	T	0.0	0.02946	B	0.0	0.01387	B	0.009899	0.30155	N	0.360258	1	0.08975	N	-1.32	0.00691	N	.	.	.	0.49	0.03824	N	0.025	0.02964	-0.9514	0.40730	T	0.010	0.03673	T	9	0.0037549734	0.00070	T	.	.	.	0.078	0.22779	.	.	0.0401082797425	0.02173	.	.	0.587943224786	0.54355	0.419013440609	0.27701	T	0.04423	0.26752	T	-0.656704	0.00066	T	-0.701807	0.05727	T	0.000186556837697736	0.00001	T	0.174683	0.01682	T	0.017079594	0.00244	0.024969399	0.00528	0.017079594	0.00244	0.024969399	0.00528	-2.255	0.09559	T	.	.	0.059	0.01934	B	.;.	.;.	0.374732	0.07468	4.107	0.46410719542778284	0.03715	0.00333	0.01736	N	AEFDGBI	0.030784	0.03164	N	-1.16472721364999	0.05541	0.2529068	-1.04608233724713	0.08789	0.4338623	0.999872400141814	0.44625	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.41	4.42	0.52775	2.076000	0.41172	2.588000	0.33452	-0.753000	0.03565	0.357000	0.25817	0.353000	0.24482	0.009000	0.08673	0.2056:0.0:0.7944:0.0	6.894	0.23428	112	0.95438	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013131	0.000000	0.013587	0.023392	0.000000	0.008621	0.018405	0.015152	0.05	721.43	39	chr1	151177011	.	A	G	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=397;ExcessHet=0;FS=6.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.259;SOR=1.412	GT:AD:DP:GQ:PL	0/1:48,30:78:99:733,0,1181	9	0	1	0
chr1	151286637	151286637	G	A	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon2:c.G346A:p.G116R,ZNF687:NM_020832:exon2:c.G346A:p.G116R,ZNF687:NM_001304763:exon3:c.G346A:p.G116R	Paget disease of bone 6, Autosomal dominant	411	1082	29	0	0	29	0.0132239	.	.	.	706682	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.116	0.0077978684814	0.0045	0.00239617	0.0053	0.0011	0.0013	0	0.0018	0.0070	0.0022	0.0082	0.0052781	816	154602	rs112780836	0.0066	0.0066	0.0066	0.0066	0.0106	0.0065	0.0064	0.0085	0.0077	0.0008	0.0019	0.0040	2.519e-05	0.0011	0.0106	0.0074	0.0055	0.0083	0.0044	0.0044	0.0045	0.0043	0.0097	0.0041	0.0040	0.0075	0.0067	0.0015	0	0.0028	0.0052	0	0.0011	0.0136	0.0069	0.0047	0.0097	0.005	0.63226	D	0.143	0.33219	T	0.132	0.27209	B	0.051	0.25434	B	0.054488	0.22721	N	0.220262	0.99836	0.22200	N	2.035	0.55589	M	5.61	0.00817	T	-1.83	0.42957	N	0.14	0.13911	-0.9328	0.43725	T	0.003	0.00897	T	10	0.0031077862	0.00052	T	0.007798	0.20694	T	0.116	0.32463	0.169	0.07419	0.161926535498	0.15789	0.09275164906072043	0.09207	0.378017355706	0.39229	0.413093268871	0.26885	T	0.019033	0.15236	T	-0.546198	0.00307	T	-0.545676	0.17744	T	0.017529488717337	0.00488	T	0.705629	0.31596	T	0.12748055	0.29830	0.099288575	0.23701	0.12012196	0.28271	0.099288575	0.23700	-5.302	0.39963	T	.	.	0.133	0.28693	B	.;.;.	.;.;.	1.867266	0.23722	16.13	0.99521263984027808	0.69284	0.40792	0.26515	N	AEFDGBCI	0.181147	0.30846	N	-0.127789319807598	0.36186	2.088219	-0.145802820623253	0.33570	1.921671	0.999645886790659	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.32	4.32	0.50899	2.201000	0.42368	9.873000	0.82142	0.618000	0.50648	0.053000	0.21524	1.000000	0.68203	0.026000	0.12556	0.0:0.1794:0.8206:0.0	11.717	0.50927	90	0.96275	.;.;.	.	.	.	.	.	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	0.009063	0.000000	0.009511	0.008772	0.000000	0.008621	0.015244	0.011364	0.05	982.43	39	chr1	151286637	.	G	A	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.77;DP=447;ExcessHet=0;FS=1.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.757;SOR=0.959	GT:AD:DP:GQ:PL	0/1:53,42:95:99:994,0,1447	9	0	1	0
chr1	152219272	152219272	C	A	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2357T:p.G786V	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00212828475701	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs761620569	4.789e-06	4.788e-06	4.084e-06	5.5e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.076	0.42614	T	0.982	0.60036	D	0.722	0.54942	P	.	.	.	.	0.999996	0.08975	N	2.645	0.77386	M	3.43	0.05440	T	-3.14	0.64019	D	0.082	0.05799	-0.9675	0.37713	T	0.010	0.03627	T	9	0.18031114	0.33209	T	0.002128	0.03962	T	0.054	0.15330	0.358	0.36060	0.595504241854	0.59229	0.0023360632022177536	0.00216	.	.	0.579312682152	0.49989	T	0.166483	0.51273	T	-0.474214	0.00801	T	-0.716298	0.04977	T	0.258180499076843	0.23235	T	0.314169	0.06189	T	0.07020806	0.15445	0.070709765	0.15055	0.07020806	0.15444	0.070709765	0.15054	-8.989	0.67626	D	.	.	0.185	0.39999	B	.	.	0.940402	0.13162	9.662	0.71398190324494526	0.09615	0.13380	0.17823	N	AEFDBI	0.064033	0.12409	N	-0.349101323869587	0.27305	1.497035	-0.564690836826707	0.20416	1.099871	9.69721632556608E-5	0.04910	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.13	1.07	0.19399	0.103000	0.15128	.	.	-0.307000	0.06116	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6455:0.2221:0.1324	4.720	0.12291	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3341.43	317	chr1	152219272	.	C	A	3341.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.232;DP=2835;ExcessHet=0;FS=0.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.939;SOR=0.744	GT:AD:DP:GQ:PL	0/1:147,132:279:99:3353,0,3813	9	0	1	0
chr1	152308926	152308926	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G5960A:p.R1987H	Ichthyosis vulgaris, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00160212493888	0.0002	.	0.0004	0.0002	8.637e-05	0.0017	0	4.495e-05	0	0.0018	0.0003428	53	154602	rs150720370	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	0.0001	2.236e-05	0	0.0011	0	0.0012	9.712e-05	0.0002	0.0014	0.0002	0.0003	0.0002	0.0002	0.0015	0.0002	0.0001	0.0008	0.0006	0.0001	0	6.533e-05	0	0.0015	0	0	0.0002	0	0.0010	0.604	0.05567	T	.	.	.	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.665	0.16292	N	5.52	0.00903	T	0.04	0.06488	N	0.046	0.01825	-0.9748	0.36170	T	0.001	0.00287	T	9	0.01054126	0.00234	T	0.001602	0.02574	T	0.006	0.00375	.	.	0.0666544352282	0.05500	0.00882527760408678	0.00846	.	.	0.198732987046	0.00421	T	0.014259	0.12170	T	-0.732594	0.00023	T	-0.831881	0.01229	T	0.0101435463186682	0.00137	T	0.483452	0.14697	T	0.022931406	0.00991	0.03253012	0.02003	0.022931406	0.00991	0.03253012	0.02003	-8.495	0.64396	D	.	.	0.087	0.11172	B	.	.	-0.072764	0.03807	0.807	0.49881538539254361	0.04287	0.00037	0.00318	N	AEFBI	0.023558	0.01330	N	-1.61296677362794	0.01201	0.05221832	-1.74703559004593	0.00944	0.04227932	1.05924605377094E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.66	-3.32	0.04663	-1.451000	0.02494	.	.	-0.695000	0.04090	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2542:0.2119:0.5339	3.690	0.07875	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5850.43	901	chr1	152308926	.	C	T	5850.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.32;DP=3902;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.42;MQRankSum=1.96;QD=7.43;ReadPosRankSum=0.1;SOR=0.714	GT:AD:DP:GQ:PL	0/1:528,259:787:99:5862,0,12977	9	0	1	0
chr1	152759907	152759907	G	A	exonic	KPRP	.	nonsynonymous SNV	KPRP:NM_001025231:exon2:c.G319A:p.V107I	.	430	1072	18	2	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00143544866918	0.0010	0.00179712	0.0019	0.0003	0.0005	0	0.0003	0.0012	0.0033	0.0083	0.0016882	261	154602	rs141893273	0.0014	0.0014	0.0012	0.0016	0.0081	0.0013	0.0013	0.0076	0.0074	8.965e-05	0.0013	0.0054	0	0.0002	0.0033	0.0009	0.0015	0.0081	0.0014	0.0014	0.0012	0.0016	0.0069	0.0013	0.0012	0.0050	0.0044	0.0004	0	0.0046	0.0072	0	0	0.0068	0.0010	0.0014	0.0069	.	.	.	0.166	0.30828	T	0.001	0.07471	B	0.01	0.14941	B	0.197705	0.16681	N	0.502898	1	0.08975	N	1.455	0.36767	L	.	.	.	.	.	.	0.135	0.13198	-0.9933	0.31749	T	0.013	0.05081	T	10	0.0041950047	0.00083	T	0.001435	0.02139	T	.	.	.	.	0.0986583533028	0.09354	0.0326603906186976	0.03214	.	.	0.262207508087	0.05156	T	0.011288	0.10090	T	-0.583315	0.00184	T	-0.605963	0.12315	T	0.00202387368533371	0.00021	T	0.352865	0.07937	T	0.031186612	0.02914	0.034994595	0.02667	0.031186612	0.02914	0.034994595	0.02667	-5.355	0.40484	T	.	.	0.082	0.08948	B	.	.	0.144917	0.05383	1.861	0.57246240920058877	0.05727	0.06025	0.11992	N	AEFDGBHIJ	0.040569	0.06054	N	-0.85380326589887	0.11956	0.5799864	-0.853312163780188	0.13208	0.6839292	0.999999999064034	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	3.73	0.41982	0.675000	0.24912	.	.	-0.119000	0.14319	0.001000	0.13787	0.006000	0.19429	0.001000	0.02609	0.1692:0.0:0.8308:0.0	9.188	0.36341	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	3102.43	38	chr1	152759907	.	G	A	3102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.762;DP=1318;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.205;SOR=0.717	GT:AD:DP:GQ:PL	0/1:115,121:236:99:3114,0,2909	9	0	1	0
chr1	153390447	153390447	T	C	exonic	S100A8	.	nonsynonymous SNV	S100A8:NM_001319196:exon2:c.A161G:p.Y54C,S100A8:NM_001319197:exon2:c.A158G:p.Y53C,S100A8:NM_001319198:exon2:c.A113G:p.Y38C,S100A8:NM_001319201:exon2:c.A89G:p.Y30C,S100A8:NM_002964:exon2:c.A89G:p.Y30C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0174871241907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.076	0.42614	T	0.999	0.77913	D	0.956	0.69739	D	0.002247	0.36929	N	0.291182	1	0.08975	N	.	.	.	3.32	0.06214	T	-2.23	0.50012	N	0.716	0.71942	-1.1175	0.02496	T	0.026	0.11264	T	9	0.8217069	0.81371	D	0.017487	0.39209	T	0.136	0.36778	0.529	0.63560	0.494031935134	0.49039	0.5874808131619581	0.58678	0.963323052377	0.73079	0.622328996658	0.56058	T	0.155723	0.49758	T	-0.135469	0.30615	T	-0.432369	0.29665	T	0.858817994594574	0.50944	D	0.817118	0.47377	T	0.34114465	0.56370	0.18146932	0.41013	0.34114465	0.56370	0.18146932	0.41012	-2.844	0.08595	T	.	.	0.208	0.43435	B	.;.	.;.	3.246441	0.44338	21.9	0.98992530618175079	0.49963	0.41207	0.26606	N	AEFDBHCI	0.273224	0.38868	N	0.172135878801249	0.49864	3.182189	0.0268765527372502	0.40967	2.453462	0.999999952898328	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.17	4.17	0.48303	2.108000	0.41478	1.230000	0.25036	0.663000	0.56723	0.999000	0.42656	0.937000	0.28687	0.142000	0.20019	0.0:0.0:0.0:1.0	9.903	0.40531	846	0.36215	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	.	.	.	.	.	.	.	.	0.05	1560.43	34	chr1	153390447	.	T	C	1560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=447;ExcessHet=0;FS=4.498;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.47;SOR=0.384	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1572,0,1369	9	0	1	0
chr1	155046360	155046360	G	A	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon12:c.G1294A:p.V432M,DCST1:NM_152494:exon13:c.G1369A:p.V457M	.	422	1099	1	0	0	1	0.000454752	0.0314	0.238	.	2259717	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0114979160094	0.0002	.	9.884e-05	0	8.637e-05	0	0	0.0002	0	0	8.41e-05	13	154602	rs148394630	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0002	2.987e-05	0.0001	7.652e-05	0	0	0.0007	0.0002	0.0001	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0003	9.746e-05	8.26e-05	0.0001	9.897e-05	4.828e-05	0	0.0003	0.0003	0	0	0	0.0002	0	0	0.236	0.32453	T	0.136	0.34009	T	0.125	0.26866	B	0.082	0.29098	B	0.803156	0.09308	N	0.903666	1	0.08975	N	1.295	0.32453	L	1.38	0.34050	T	-0.93	0.24898	N	0.164	0.23506	-1.0115	0.26447	T	0.013	0.04938	T	9	0.07838631	0.12488	T	0.011498	0.29187	T	0.135	0.36572	.	.	0.15556083564	0.15200	0.22779191405067736	0.22694	0.134461556451	0.15141	0.312601298094	0.12300	T	0.033621	0.22988	T	-0.509388	0.00506	T	-0.663501	0.08032	T	0.0279247593356525	0.01677	T	0.724828	0.33863	T	0.08557956	0.19857	0.0764459	0.16932	0.08557956	0.19857	0.0764459	0.16932	-5.364	0.42856	T	.	.	0.103	0.19679	B	.;.;.	.;.;.	0.856353	0.12288	8.828	0.96628945434406477	0.30509	0.05657	0.11571	N	AEFBHCI	0.131222	0.25007	N	-0.94181015812578	0.09878	0.469469	-1.00124921121159	0.09758	0.487344	0.999737226913218	0.42341	0.581397	0.33459	0	0.547309	0.14657	0	0.527494	0.11647	0	0.622129	0.49086	0	.	.	5.01	-3.41	0.04535	-0.336000	0.07908	-1.236000	0.05946	0.676000	0.76740	0.003000	0.16062	0.000000	0.08366	0.755000	0.35964	0.4649:0.1415:0.2495:0.144	1.725	0.02743	226	0.91233	Dendritic cell-specific transmembrane 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1714.43	33	chr1	155046360	.	G	A	1714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.619;DP=464;ExcessHet=0;FS=8.107;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.895;SOR=0.408	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1726,0,1323	9	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	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:128,53:186:99:404,0,2570	0	0	9	1
chr1	162778639	162778639	C	A	exonic	DDR2	.	nonsynonymous SNV	DDR2:NM_001354982:exon17:c.C2343A:p.F781L,DDR2:NM_001354983:exon17:c.C2343A:p.F781L,DDR2:NM_006182:exon17:c.C2343A:p.F781L,DDR2:NM_001014796:exon18:c.C2343A:p.F781L	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.00517659512733	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs769024047	1.3e-05	1.3e-05	6.807e-06	1.925e-05	0.0003	8.31e-06	6.7e-06	0.0001	9.45e-05	0	0	0	0	0	0.0003	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.009	0.14300	B	0.000011	0.62929	D	0.120319	0.997887	0.44285	D	-0.655	0.02084	N	-1.68	0.82897	D	0.63	0.02404	N	0.342	0.38335	-0.9968	0.30810	T	0.172	0.51468	T	9	0.14069429	0.26741	T	0.005177	0.13187	T	0.256	0.56694	0.607	0.73945	0.487542366653	0.48385	0.7395574314519906	0.73900	0.518063289252	0.49675	0.725780248642	0.70891	T	0.403234	0.76004	T	-0.267064	0.12086	T	-0.347095	0.39537	T	0.0950699578217373	0.11806	T	0.814719	0.46890	T	0.3391664	0.56213	0.08867611	0.20691	0.3391664	0.56213	0.08867611	0.20690	-6.429	0.49736	T	.	.	0.658	0.71233	P	.;.;.	.;.;.	2.602839	0.33792	19.44	0.79159079496955431	0.12616	0.83816	0.42911	D	AEFBI	0.204377	0.33082	N	-0.261978425852402	0.30627	1.709563	-0.0533872456180825	0.37343	2.185279	0.0410492892287824	0.14467	0.719381	0.83141	0	0.670034	0.63936	0	0.602189	0.34648	0	0.733575	0.97253	0	.	.	5.49	4.52	0.54797	1.550000	0.35830	1.393000	0.26132	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1665:0.75:0.0:0.0835	7.532	0.26858	835	0.38313	Serine-threonine/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|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;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	.	.	.	.	.	.	.	.	0.05	1309.43	34	chr1	162778639	.	C	A	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.177;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=2.47;SOR=0.698	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1321,0,1570	9	0	1	0
chr1	167553591	167553591	G	A	exonic	CREG1	.	nonsynonymous SNV	CREG1:NM_003851:exon1:c.C151T:p.P51S	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.24343906544	.	.	0.0026	0	0	0	.	0	0	0.0034	7.12e-05	11	154602	rs773044756	7.475e-05	7.867e-05	3.861e-05	0.0001	0.0014	6.243e-05	5.798e-05	0.0012	0.0011	0	0	0	0	0	0	9.75e-07	5.706e-05	0.0014	1.314e-05	1.312e-05	0	2.687e-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	0.014	0.53172	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000006	0.62929	D	0.063724	0.999766	0.48888	D	2.47	0.71715	M	.	.	.	-4.55	0.78553	D	0.37	0.41162	-0.5211	0.67873	T	0.281	0.65320	T	8	0.06412181	0.08456	T	0.243439	0.88802	D	0.253	0.56294	0.35	0.34760	0.436780212511	0.43300	0.43318682421574717	0.43235	0.401420650382	0.41125	0.835001349449	0.87329	D	0.196859	0.55337	T	-0.197558	0.21158	T	-0.0919327	0.64016	T	0.255573071699542	0.23121	T	0.594141	0.21965	T	0.526658	0.68640	0.54872555	0.73910	0.526658	0.68642	0.54872555	0.73910	-6.884	0.53181	T	.	.	0.188	0.40473	B	.;.	.;.	5.293423	0.88871	29.8	0.99875856960660048	0.95328	0.84864	0.43957	D	ALL	0.707974	0.66253	D	0.682811629709604	0.78506	6.885479	0.630603019474987	0.77173	6.62872	1.0	0.98316	0.437478	0.07067	0	0.484254	0.07192	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.86	3.92	0.44525	6.539000	0.73760	10.520000	0.83401	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0766:0.0:0.9234:0.0	13.683	0.61974	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	.	.	.	.	.	.	.	.	0.05	534.43	39	chr1	167553591	.	G	A	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.799;DP=380;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.06;SOR=0.506	GT:AD:DP:GQ:PL	0/1:22,27:49:99:546,0,499	9	0	1	0
chr1	175085490	175085490	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon6:c.G1320T:p.R440S	.	427	1036	53	6	0	65	0.0304165	.	.	.	706885	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0043	0.00858626	0.0097	0.0003	0.0058	0	0.0024	0.0073	0.0228	0.0346	0.0077295	1195	154602	rs6664276	0.0066	0.0067	0.0058	0.0075	0.0296	0.0065	0.0065	0.0286	0.0283	0.0007	0.0057	0.0080	2.523e-05	0.0014	0.0186	0.0054	0.0077	0.0296	0.0055	0.0055	0.0053	0.0057	0.0309	0.0052	0.0051	0.0269	0.0253	0.0008	0.0308	0.0087	0.0081	0	0.0015	0.0204	0.0063	0.0066	0.0309	0.956	0.02116	T	0.829	0.11968	T	0.59	0.39078	P	0.25	0.39011	B	0.005966	0.32369	N	0.336036	0.601732	0.32544	D	1.435	0.35949	L	1.63	0.28002	T	-0.98	0.25986	N	0.381	0.50598	-1.0141	0.25625	T	0.032	0.13635	T	10	0.0054251254	0.00119	T	.	.	.	0.084	0.24469	0.34	0.33141	0.317084106153	0.31322	0.45807528365645644	0.45725	0.186432944156	0.20951	0.327108561993	0.14498	T	0.001212	0.00709	T	-0.504897	0.00536	T	-0.475713	0.24904	T	0.00896777639948186	0.00112	T	0.548745	0.18852	T	0.09944625	0.23469	0.09248311	0.21797	0.09944625	0.23469	0.09248311	0.21796	-4.779	0.34345	T	.	.	0.282	0.52227	B	.;.;.	.;.;.	1.756838	0.22349	15.58	0.37462397471296272	0.02470	0.56796	0.30209	D	AEFBI	0.309139	0.41553	N	-0.725968913115918	0.15295	0.7695202	-0.628736688381513	0.18756	1.003365	0.00126639096779767	0.08390	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	2.91	0.32903	0.435000	0.21228	1.463000	0.26696	-0.127000	0.13314	0.382000	0.26022	1.000000	0.68203	0.874000	0.41677	0.1436:0.1333:0.7231:0.0	7.738	0.27988	556	0.71678	Fibronectin type III;Fibronectin type III;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026210	0.000000	0.029891	0.020468	0.000000	0.068966	0.030675	0.026515	0.05	1999.43	39	chr1	175085490	.	G	T	1999.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.99;DP=518;ExcessHet=0;FS=2.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.74;SOR=0.711	GT:AD:DP:GQ:PL	0/1:63,84:147:99:2011,0,1493	9	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	13668.7	91	chr1	175160810	.	C	*	13668.7	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.19;DP=749;ExcessHet=2.8389;FS=2.847;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=3.4;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,24:62:99:1|0:175160788_C_CCTT:876,0,1432:175160788	6	0	4	0
chr1	184754587	184754587	T	G	exonic	EDEM3	.	nonsynonymous SNV	EDEM3:NM_001319960:exon1:c.A60C:p.R20S,EDEM3:NM_025191:exon1:c.A60C:p.R20S	.	429	1044	48	1	0	50	0.0233863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	.	0.0119808	0.0072	0.0013	0.0020	0.0414	0.0005	0.0026	0.0076	0.0151	0.0052781	816	154602	rs193034365	0.0030	0.0030	0.0027	0.0033	0.0248	0.0029	0.0029	0.0235	0.0230	0.0005	0.0011	0.0068	0.0248	7.626e-05	0.0128	0.0014	0.0058	0.0135	0.0028	0.0028	0.0029	0.0028	0.0357	0.0026	0.0025	0.0315	0.0299	0.0005	0	0.0016	0.0069	0.0357	0.0002	0.0034	0.0016	0.0052	0.0110	0.987	0.01979	T	0.745	0.04895	T	0.0	0.02946	B	0.0	0.01387	B	0.139084	0.18355	N	0.501789	0.999987	0.18198	N	0	0.06538	N	-0.61	0.71779	T	0.53	0.02808	N	0.111	0.09772	-1.0611	0.11483	T	0.042	0.18076	T	10	0.007667631	0.00174	T	.	.	.	0.094	0.27141	0.619	0.75347	0.5688587536	0.56550	0.2612104138876145	0.26034	0.174374383467	0.19631	0.731880187988	0.71781	T	0.019733	0.15664	T	-0.374854	0.03356	T	-0.279093	0.46896	T	0.039269934940123	0.03559	T	0.305069	0.05837	T	0.09925845	0.23422	0.115757614	0.27944	0.1345001	0.31247	0.115757614	0.27943	-4.335	0.28664	T	.	.	0.104	0.19032	B	.	.	2.720633	0.35583	19.94	0.80142828398531007	0.13064	0.00895	0.03516	N	ALL	.	.	.	-0.544015440680604	0.20671	1.091455	-0.319936607149643	0.27455	1.52358	0.999999999999222	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	4.76	4.76	0.60189	1.851000	0.38978	8.248000	0.76859	-0.128000	0.13240	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.8045:0.1955	10.384	0.43312	583	0.69484	.	.	.	.	.	.	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	0.014721	0.005208	0.021739	0.008772	0.000000	0.017241	0.012500	0.015267	0.1	2290.14	36	chr1	184754587	.	T	G	2290.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=511;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.21;SOR=0.713	GT:AD:DP:GQ:PL	0/1:51,40:91:99:1024,0,1219	8	0	2	0
chr1	196774938	196774938	G	A	exonic	CFHR3	.	nonsynonymous SNV	CFHR3:NM_001166624:exon1:c.G52A:p.G18R,CFHR3:NM_021023:exon1:c.G52A:p.G18R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00669300206791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.438e-06	1.402e-06	0	2.896e-06	1.879e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.879e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.28520	T	0.124	0.37037	T	0.975	0.73220	D	0.707	0.66279	P	.	.	.	.	1	0.08975	N	2.505	0.72935	M	1.3	0.35590	T	-2.8	0.65283	D	0.462	0.60071	-1.0019	0.29372	T	0.165	0.50193	T	9	0.80187047	0.79578	D	0.006693	0.17671	T	0.138	0.37187	0.732	0.86547	0.459100921832	0.45533	0.35459076575572285	0.35373	0.322322994843	0.34426	0.465289086103	0.34035	T	0.168774	0.51590	T	-0.130474	0.31419	T	-0.425193	0.30483	T	0.80599057674408	0.46765	D	0.568943	0.20943	T	0.10231307	0.24175	0.15328297	0.36026	0.10231307	0.24175	0.15328297	0.36025	-7.047	0.59858	T	.	.	0.304	0.61051	B	.;.;.;.	.;.;.;.	2.749201	0.36028	20.1	0.99674476717408045	0.78846	0.39380	0.26200	N	AEFDGI	0.366376	0.45421	N	0.0415806500047498	0.43756	2.662356	-0.156656006941921	0.33153	1.893501	7.36714571867804E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.42	1.49	0.21966	2.769000	0.47338	3.065000	0.36176	0.548000	0.25860	0.967000	0.34061	0.269000	0.24035	0.059000	0.15899	0.1692:0.0:0.8308:0.0	5.214	0.14656	534	0.73357	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1859.43	34	chr1	196774938	.	G	A	1859.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.447;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.114;SOR=0.691	GT:AD:DP:GQ:PL	0/1:73,83:156:99:1871,0,1613	9	0	1	0
chr1	198718192	198718192	C	A	exonic	PTPRC	.	nonsynonymous SNV	PTPRC:NM_080921:exon11:c.C1066A:p.R356S,PTPRC:NM_002838:exon14:c.C1549A:p.R517S	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3905010	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.0361045101759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	0.05256	T	.	.	.	.	.	.	0.000000	0.00162	N	11.690600	1	0.08975	N	.	.	.	0.47	0.56114	T	.	.	.	0.102	0.08506	-0.9969	0.30783	T	0.112	0.40122	T	10	0.091471255	0.16025	T	0.036105	0.56779	D	0.142	0.37995	.	.	0.187035705434	0.18338	0.5758304353797926	0.57512	0.192728880092	0.21601	0.243996798992	0.03161	T	0.012157	0.10734	T	-0.226982	0.17050	T	-0.56382	0.16020	T	0.149815425276756	0.17089	T	0.151785	0.01619	T	0.5684135	0.70973	0.11148998	0.26893	0.5684135	0.70975	0.11148998	0.26893	-2.617	0.09335	T	.	.	0.177	0.45470	B	.;.;.;.	.;.;.;.	-2.081592	0.00084	0.001	0.50905225134308163	0.04467	0.00104	0.00666	N	AEFBI	0.053726	0.09706	N	-1.66476498718452	0.00974	0.04222461	-1.86976204482411	0.00561	0.02488589	0.999994731702452	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.28	-8.55	0.00790	-8.323000	0.00028	-20.000000	0.00162	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.316:0.123:0.3304:0.2306	1.218	0.01801	593	0.68665	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	697.43	39	chr1	198718192	.	C	A	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.07;DP=378;ExcessHet=0;FS=2.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.04;SOR=0.703	GT:AD:DP:GQ:PL	0/1:37,30:67:99:709,0,796	9	0	1	0
chr1	205419256	205419256	C	G	exonic	LEMD1	.	nonsynonymous SNV	LEMD1:NM_001001552:exon3:c.G179C:p.G60A,LEMD1:NM_001199050:exon3:c.G179C:p.G60A	.	428	1073	21	0	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0045	0.00339457	0.0051	0.0011	0.0078	0	0.0021	0.0067	0.0132	0.0026	0.005181	801	154602	rs35101083	0.0057	0.0057	0.0056	0.0059	0.0097	0.0056	0.0056	0.0077	0.0069	0.0009	0.0063	0.0157	0	0.0019	0.0097	0.0062	0.0064	0.0025	0.0045	0.0045	0.0047	0.0042	0.0063	0.0042	0.0041	0.0059	0.0057	0.0011	0	0.0063	0.0156	0.0002	0.0018	0.0170	0.0063	0.0090	0.0019	0.708	0.12920	T	0.547	0.09522	T	0.024	0.21357	B	0.008	0.18489	B	0.972672	0.07789	N	1.012970	1	0.08975	N	0.55	0.14455	N	0.87	0.46412	T	-1.64	0.48020	N	0.136	0.14196	-1.0225	0.22899	T	0.033	0.14117	T	10	0.0046049356	0.00096	T	.	.	.	0.064	0.18567	.	.	0.0551355673512	0.04727	0.10135018658236884	0.10066	0.163144533903	0.18410	0.234471648932	0.02315	T	0.008315	0.07645	T	-0.692402	0.00040	T	-0.759403	0.03134	T	0.0116881296088719	0.00179	T	0.629237	0.24459	T	0.029858613	0.02551	0.034413677	0.02506	0.029858613	0.02550	0.034413677	0.02505	-3.358	0.19008	T	.	.	0.097	0.15698	B	.;.;.;.	.;.;.;.	-0.261730	0.02790	0.380	0.25132979439354541	0.01144	0.02369	0.06743	N	AEFBI	0.056496	0.10450	N	-1.07349805446981	0.07135	0.330534	-1.06941394688075	0.08308	0.4078871	0.0148488406549552	0.12645	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.77	-0.747	0.10532	-0.517000	0.06360	-0.306000	0.10077	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.3048:0.2863:0.1899:0.2191	0.346	0.00317	863	0.32847	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014617	0.025253	0.016304	0.000000	0.000000	0.008621	0.033742	0.000000	0.05	712.43	35	chr1	205419256	.	C	G	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.296;SOR=0.693	GT:AD:DP:GQ:PL	0/1:33,28:61:99:724,0,777	9	0	1	0
chr1	207025002	207025002	C	G	exonic	C1orf116	.	nonsynonymous SNV	C1orf116:NM_023938:exon3:c.G168C:p.E56D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0284144830366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.102	0.38450	T	.	.	.	.	.	.	0.000000	0.84330	D	0.045540	0.701582	0.81001	D	.	.	.	1.79	0.25509	T	-2.87	0.60348	D	0.565	0.58883	-1.0827	0.06833	T	0.104	0.38094	T	10	0.3049235	0.48012	T	0.028414	0.51097	D	0.156	0.40720	0.096	0.01287	0.0884992946249	0.08302	0.1943030029145293	0.19348	0.326756471152	0.34813	.	.	.	.	.	.	-0.119923	0.33136	T	-0.410037	0.32220	T	0.983683526515961	0.75260	D	0.854215	0.54045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.61628	A	.	.	3.047744	0.40881	21.3	0.99747555661729959	0.84002	0.87236	0.46715	D	ALL	0.407205	0.47938	N	0.0328592254781185	0.43355	2.630027	-0.0522846757678888	0.37392	2.188683	0.999999707817542	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.584781	0.30282	0	0.542086	0.14980	0	.	.	5.12	-0.0744	0.13064	0.606000	0.23891	0.613000	0.20051	-0.182000	0.10109	1.000000	0.71638	0.998000	0.33993	0.928000	0.46473	0.0:0.4324:0.0:0.5676	9.722	0.39472	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	789.43	35	chr1	207025002	.	C	G	789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.833;DP=383;ExcessHet=0;FS=8.08;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.011;SOR=0.223	GT:AD:DP:GQ:PL	0/1:34,38:72:99:801,0,865	9	0	1	0
chr1	208217558	208217558	G	T	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.C365A:p.S122Y	.	426	1067	27	2	0	31	0.0143187	.	.	.	696429	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.00737051131181	0.0062	0.00299521	0.0060	0.0018	0.0030	0	0.0021	0.0093	0.0066	0.0021	0.0060737	939	154602	rs142871447	0.0077	0.0077	0.0077	0.0077	0.0125	0.0076	0.0075	0.0102	0.0093	0.0012	0.0058	0.0142	2.519e-05	0.0048	0.0125	0.0087	0.0073	0.0021	0.0061	0.0061	0.0062	0.0059	0.0095	0.0057	0.0056	0.0088	0.0086	0.0014	0.0077	0.0058	0.0158	0.0004	0.0036	0.0170	0.0095	0.0095	0.0012	0.008	0.58626	D	0.014	0.62352	D	0.952	0.54136	P	0.767	0.56720	P	0.000094	0.51296	D	0.135562	1	0.81001	D	0.73	0.18813	N	2.73	0.11839	T	-2.41	0.52938	N	0.52	0.55019	-1.1622	0.00705	T	0.045	0.19152	T	10	0.008282691	0.00188	T	0.007371	0.19550	T	0.334	0.65620	.	.	0.102598925029	0.09809	0.5853683915594246	0.58465	0.995737323308	0.74226	0.763034939766	0.76383	T	0.260073	0.63141	T	-0.394889	0.02500	T	-0.332045	0.41242	T	0.0452595234057308	0.04650	T	0.958704	0.84427	D	0.18998721	0.40565	0.23046508	0.48150	0.1957096	0.41371	0.23046508	0.48149	-6.21	0.48004	T	0.17918725729765989	0.23002	0.146	0.32178	B	.	.	4.579227	0.72322	25.8	0.99346056782240144	0.60371	0.99328	0.94563	D	AEFDBI	0.912353	0.87287	D	0.688757023873595	0.78896	6.964743	0.74609764330399	0.85866	8.709884	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.71	5.71	0.89031	9.638000	0.97833	11.916000	0.99706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.85	0.96733	796	0.45353	Sema domain|Sema domain|Sema 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	0.010574	0.010101	0.013587	0.000000	0.000000	0.008621	0.018293	0.011364	0.05	1861.43	48	chr1	208217558	.	G	T	1861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.591;DP=628;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.619;SOR=0.663	GT:AD:DP:GQ:PL	0/1:74,75:149:99:1873,0,2022	9	0	1	0
chr1	210242275	210242275	C	T	exonic	SERTAD4	.	nonsynonymous SNV	SERTAD4:NM_001375428:exon4:c.C1009T:p.R337W,SERTAD4:NM_019605:exon4:c.C1009T:p.R337W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0541241256176	7.7e-05	0.000199681	3.391e-05	0	8.684e-05	0	0	4.577e-05	0	0	3.23e-05	5	154602	rs150924683	3.229e-05	3.283e-05	2.87e-05	3.592e-05	7.564e-05	2.488e-05	2.23e-05	2.373e-05	2.106e-05	0	0	3.868e-05	7.564e-05	5.628e-05	0	3.242e-05	3.329e-05	2.364e-05	6.57e-05	6.564e-05	3.856e-05	9.408e-05	9.635e-05	3.516e-05	2.616e-05	3.245e-05	1.912e-05	9.635e-05	0	6.539e-05	0	0	0	0	5.882e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000041	0.53742	D	0.069314	0.571677	0.31173	N	1.1	0.28011	L	.	.	.	-2.58	0.55662	D	0.534	0.56231	-0.5695	0.66035	T	0.196	0.54970	T	9	0.33685237	0.50818	T	0.054124	0.65736	D	0.194	0.47447	.	.	0.296721761885	0.29290	0.1541236550209343	0.15333	0.477105544742	0.46828	0.428991615772	0.29071	T	0.041269	0.25801	T	0.00467227	0.52297	T	-0.0387294	0.67786	D	0.86657452583313	0.51663	D	.	.	.	0.33447877	0.55835	0.32694688	0.58597	0.33447877	0.55835	0.32694688	0.58596	-4.544	0.31460	T	.	.	0.252	0.48705	B	.	.	2.899433	0.38424	20.7	0.99820540301389982	0.90326	0.64570	0.32450	D	AEFBI	0.439350	0.49836	N	0.0845030963705251	0.45741	2.82557	0.0675926181069465	0.42930	2.60547	0.836539636414021	0.24789	0.615465	0.37627	0	0.59043	0.45803	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.84	1.98	0.25351	0.710000	0.25421	1.639000	0.27781	-0.763000	0.03499	0.945000	0.32849	0.791000	0.26863	0.817000	0.38496	0.4936:0.5064:0.0:0.0	15.370	0.74277	699	0.57969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	433.43	42	chr1	210242275	.	C	T	433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=-0.499;SOR=0.56	GT:AD:DP:GQ:PL	0/1:38,20:58:99:445,0,894	9	0	1	0
chr1	223004392	223004392	A	C	exonic	DISP1	.	nonsynonymous SNV	DISP1:NM_001369594:exon8:c.A2995C:p.M999L,DISP1:NM_001377228:exon8:c.A2995C:p.M999L,DISP1:NM_001350630:exon9:c.A2266C:p.M756L,DISP1:NM_001377229:exon9:c.A2995C:p.M999L,DISP1:NM_032890:exon10:c.A2995C:p.M999L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.0457594287961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.67	0.06305	T	0.083	0.24734	B	0.054	0.25828	B	0.000000	0.84330	D	0.035731	1	0.81001	D	0.19	0.09125	N	-1.93	0.84842	D	0.33	0.03889	N	0.775	0.77226	-0.5990	0.64858	T	0.207	0.56622	T	10	0.41786283	0.56664	T	0.045759	0.62133	D	0.412	0.72328	0.451	0.51285	0.68153230018	0.67881	0.8459686246810043	0.84557	0.45004994787	0.44778	0.807989537716	0.83184	D	0.12665	0.45317	T	0.216835	0.75476	D	0.0736923	0.75157	D	0.829450905323029	0.48487	D	0.892111	0.62800	D	0.59847677	0.72609	0.3076071	0.56782	0.59847677	0.72610	0.3076071	0.56781	1.857	0.00059	T	.	.	0.224	0.45605	B	.	.	2.803215	0.36877	20.4	0.75819908213746434	0.11223	0.99059	0.90625	D	AEFBI	0.869683	0.79032	D	-0.338583721278502	0.27695	1.521509	-0.0165538715453319	0.38968	2.303434	0.999999999932122	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.85	5.85	0.93663	9.268000	0.94851	8.112000	0.76595	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	1.0:0.0:0.0:0.0	16.227	0.82122	844	0.36711	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2996.43	81	chr1	223004392	.	A	C	2996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=776;ExcessHet=0;FS=2.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.2;SOR=0.535	GT:AD:DP:GQ:PL	0/1:116,120:236:99:3008,0,2806	9	0	1	0
chr1	223761612	223761612	G	C	exonic	CAPN2	.	nonsynonymous SNV	CAPN2:NM_001146068:exon13:c.G1327C:p.E443Q,CAPN2:NM_001748:exon13:c.G1561C:p.E521Q	.	420	1087	15	0	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	0.0080	0.00579073	0.0070	0.0019	0.0041	0	0.0011	0.0107	0.0033	0.0037	0.0074967	1159	154602	rs28370127	0.0084	0.0084	0.0084	0.0083	0.0099	0.0083	0.0082	0.0098	0.0097	0.0019	0.0045	0.0036	5.043e-05	0.0019	0.0042	0.0099	0.0068	0.0035	0.0068	0.0068	0.0072	0.0063	0.0110	0.0064	0.0063	0.0103	0.0101	0.0023	0.0011	0.0076	0.0023	0	0.0010	0	0.0110	0.0104	0.0062	0.5	0.07969	T	0.709	0.07568	T	0.028	0.19712	B	0.039	0.23607	B	0.035290	0.24662	N	0.438058	0.999191	0.49770	D	1.475	0.37068	L	-2.08	0.86216	D	-1.06	0.27669	N	0.179	0.19325	-0.4087	0.71752	T	0.362	0.72315	T	10	0.008455396	0.00192	T	.	.	.	0.219	0.51417	.	.	0.851401530367	0.84996	0.4804321587476379	0.47963	0.125861384689	0.14188	0.367968350649	0.20540	T	0.167043	0.51351	T	-0.363089	0.03959	T	-0.284933	0.46297	T	0.0210863435681925	0.00810	T	0.69643	0.30590	T	0.24711089	0.47686	0.082077235	0.18704	0.24711089	0.47686	0.082077235	0.18703	-7.124	0.54933	T	.	.	0.114	0.25753	B	.;.	.;.	3.225433	0.43964	21.8	0.9407730979088943	0.24224	0.96515	0.69525	D	AEFDBCIJ	0.729707	0.67733	D	-0.112896686785912	0.36832	2.134277	0.0749637877710397	0.43295	2.634142	0.999999999794499	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	4.91	4.91	0.63897	6.216000	0.72157	9.796000	0.81670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	18.471	0.90722	.	.	.;.	CAPN8|TP53BP2|CAPN8	Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1179.43	33	chr1	223761612	.	G	C	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.401;DP=434;ExcessHet=0;FS=0.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.89;SOR=0.622	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1191,0,1367	9	0	1	0
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	.	.	.	.	.	.	.	.	0.3333	354.95	117	chr1	225514708	.	G	A	354.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.263;DP=743;ExcessHet=1.5895;FS=575.34;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=2.17;SOR=10.035	GT:AD:DP:GQ:PL	0/1:50,24:78:82:82,0,799	2	0	4	4
chr1	226736432	226736432	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G1027A:p.V343M	.	427	1092	3	0	0	3	0.00137174	.	.	.	2267764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00890764341178	0.0002	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0.0003	0.0002652	41	154602	rs199795545	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0004	3.826e-05	0	0	0.0029	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.412e-05	0	0.0001	0	0	0	0.0032	0.0004	0.0005	0	0.21	0.19639	T	0.06	0.45744	T	0.015	0.17086	B	0.007	0.12992	B	0.104812	0.02582	N	1.936190	1	0.08975	N	0.69	0.16971	N	1.76	0.25996	T	0.04	0.09460	N	0.067	0.03956	-1.0251	0.22050	T	0.036	0.15726	T	10	0.02584678	0.00767	T	0.008908	0.23487	T	0.007	0.00512	.	.	0.202312658747	0.19855	0.11423920005933663	0.11351	0.198248602837	0.22201	0.398197293282	0.24818	T	0.050054	0.28486	T	-0.576773	0.00202	T	-0.748198	0.03557	T	0.0149355959147215	0.00318	T	0.675032	0.28342	T	0.036156416	0.04393	0.04187583	0.04860	0.036156416	0.04393	0.04187583	0.04860	-4.531	0.31292	T	.	.	0.146	0.46144	B	.;.;.	.;.;.	0.507183	0.08762	5.537	0.94287004509521166	0.24586	0.05797	0.11733	N	AEFDBHCI	0.057953	0.10837	N	-1.0949260225768	0.06736	0.310946	-1.11070511248466	0.07495	0.3647805	0.999948102287712	0.47345	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.636168	0.56350	0	.	.	4.43	-1.09	0.09397	-0.577000	0.05940	-0.325000	0.09934	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.0:0.3968:0.4311:0.1721	6.534	0.21541	845	0.36510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.000000	0.006098	0.000000	0.05	1569.43	51	chr1	226736432	.	C	T	1569.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.863;DP=615;ExcessHet=0;FS=3.343;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.355;SOR=1.022	GT:AD:DP:GQ:PL	0/1:52,68:120:99:1581,0,1165	9	0	1	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K,URB2:NM_014777:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	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	.	.	.	.	.	.	.	.	0.5	151.3	117	chr1	229659277	.	G	A	151.3	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-2.176;DP=843;ExcessHet=0.2348;FS=268.231;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=1;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.22;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,20:105:57:0|1:229659277_G_A:57,0,2427:229659277	0	0	2	8
chr1	234398495	234398495	A	G	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon26:c.T4130C:p.I1377T	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00428299668018	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0003	0.0011	0.0006	0.0002393	37	154602	rs138599154	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	5.981e-05	0.0001	0.0023	2.524e-05	0	0.0023	7.93e-05	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.655e-05	7.248e-05	0.0002	8.375e-05	7.214e-05	0	6.533e-05	0.0003	0.0006	0	0	0.0001	0.0005	0.0002	0.154	0.24277	T	0.201	0.27503	T	0.116	0.26475	B	0.036	0.22909	B	0.002224	0.36970	N	0.271381	1	0.08975	N	1.39	0.34934	L	3.4	0.05642	T	-0.39	0.13611	N	0.084	0.06059	-0.9643	0.38350	T	0.018	0.07282	T	10	0.010417283	0.00232	T	0.004283	0.10373	T	0.119	0.33137	.	.	0.112648838833	0.10856	0.342553738638931	0.34168	0.0460589994829	0.05005	0.352499783039	0.18289	T	0.010785	0.09704	T	-0.555261	0.00271	T	-0.655875	0.08548	T	0.0275808968812889	0.01628	T	0.747925	0.36851	T	0.048386093	0.08426	0.045727223	0.06218	0.048386093	0.08425	0.045727223	0.06217	-3.179	0.12226	T	.	.	0.065	0.02012	B	.	.	1.996617	0.25370	16.74	0.9079720496356436	0.20046	0.65849	0.32876	D	AEFBI	0.084863	0.17202	N	-0.343161810233035	0.27524	1.510799	-0.252375151000784	0.29689	1.66541	0.999992166360724	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.85	4.72	0.59248	2.947000	0.48750	6.029000	0.52897	0.750000	0.87069	0.669000	0.28339	0.722000	0.26360	0.993000	0.69303	0.859:0.0:0.141:0.0	9.088	0.35751	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.1	1259.14	34	chr1	234398495	.	A	G	1259.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.11;DP=427;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=2.18;SOR=0.726	GT:AD:DP:GQ:PL	0/1:51,26:77:99:563,0,1102	8	0	2	0
chr1	235229250	235229250	T	C	exonic	ARID4B	.	nonsynonymous SNV	ARID4B:NM_001206794:exon11:c.A878G:p.D293G,ARID4B:NM_016374:exon11:c.A878G:p.D293G,ARID4B:NM_031371:exon11:c.A878G:p.D293G	.	453	1061	5	3	0	11	0.00515706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0315896028849	0.0016	0.000998403	0.0019	0.0002	0.0002	0	0	0.0017	0.0022	0.0072	0.0018046	279	154602	rs35560967	0.0019	0.0019	0.0017	0.0020	0.0075	0.0018	0.0018	0.0070	0.0068	0.0004	0.0001	0.0028	0	0.0002	0.0047	0.0017	0.0017	0.0075	0.0013	0.0013	0.0014	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0004	0	0.0007	0.0046	0	0	0	0.0019	0.0005	0.0050	0.294	0.24758	T	0.134	0.57104	T	0.993	0.65571	D	0.787	0.57594	P	0.011283	0.29587	N	0.395109	0.995808	0.42925	D	0.695	0.17993	N	-0.46	0.70014	T	-1.55	0.39503	N	0.549	0.57518	-0.6000	0.64817	T	0.240	0.60797	T	10	0.0061780512	0.00139	T	0.03159	0.53633	D	0.152	0.39956	.	.	0.628742050937	0.62570	0.22462516827859838	0.22377	1.39968210037	0.85170	0.754976212978	0.75182	T	0.385857	0.74716	T	-0.333573	0.05846	T	-0.247366	0.50076	T	0.0331767441150181	0.02500	T	0.819518	0.48627	T	0.11201135	0.26467	0.12589608	0.30327	0.11201135	0.26466	0.12589608	0.30326	-6.332	0.48975	T	.	.	0.189	0.48061	B	.;.;.;.	.;.;.;.	4.210652	0.63609	24.6	0.99023296912905323	0.50634	0.98930	0.88779	D	AEGBI	0.501702	0.53443	D	0.312017167359634	0.56765	3.841774	0.44065217930152	0.64120	4.659869	0.999986242531783	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.250000	0.72387	6.226000	0.55175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0746:0.0:0.9254	11.072	0.47225	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.005435	0.005848	0.000000	0.000000	0.009146	0.018939	0.05	820.43	34	chr1	235229250	.	T	C	820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.346;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0.203;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,22:47:99:0|1:235229231_T_C:832,0,918:235229231	9	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2613.07	86	chr1	240207634	.	G	*	2613.07	.	AC=5;AF=0.25;AN=20;DP=619;ExcessHet=0.0952;FS=0.455;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=60;QD=7.32;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,53:53:99:.:.:2310,164,0:.	6	1	3	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2667.45	80	chr1	240207641	.	T	*	2667.45	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.8;DP=628;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=59.99;MQRankSum=-0.926;QD=7.64;ReadPosRankSum=1.37;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,53:53:99:.:.:2310,164,0:.	6	1	3	0
chr1	240207780	240207812	CCCCCACTTCCCGGAGCGGGCATACCCCCTCCG	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2968_3000del:p.A1094_G1104del,FMN2:NM_001305424:exon6:c.2980_3012del:p.A1098_G1108del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0044	0.0062	0.0114	0.0028	0.0066	0.0028	0.0048	3.84e-05	1	26028	rs749497209	0.0056	0.0048	0.0048	0.0065	0.0231	0.0055	0.0054	0.0219	0.0215	0.0021	0.0034	0.0092	0.0076	0.0116	0.0102	0.0042	0.0073	0.0231	0.0004	0.0050	0.0004	0.0005	0.0014	0.0003	0.0002	0.0003	0.0002	0.0007	0	0.0005	0	0	0	0	0.0004	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	927.39	36	chr1	240207779	.	TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG	T	927.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.11;DP=468;ExcessHet=0;FS=1.272;InbreedingCoeff=0.6073;MLEAC=3;MLEAF=0.15;MQ=56.59;MQRankSum=0.573;QD=22.62;ReadPosRankSum=0.388;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:57:1|1:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:733,57,0:240207779	8	1	1	0
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2674.01	36	chr1	240207785	.	A	*	2674.01	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.546;DP=409;ExcessHet=0;FS=2.143;InbreedingCoeff=0.7414;MLEAC=4;MLEAF=0.286;MQ=56.93;MQRankSum=3.04;QD=16.3;ReadPosRankSum=1.06;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:57:1|1:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:733,57,0:240207779	5	1	1	3
chr1	240207788	240207788	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2184.54	36	chr1	240207788	.	T	*	2184.54	.	AC=2;AF=0.111;AN=18;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=0.8566;MLEAC=2;MLEAF=0.111;MQ=58.2;QD=16.06;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:57:1|1:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:733,57,0:240207779	8	1	0	1
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1107.53	30	chr1	240207806	.	C	*	1107.53	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.671;DP=273;ExcessHet=0.2119;FS=0;InbreedingCoeff=0.2455;MLEAC=4;MLEAF=0.4;MQ=52.27;MQRankSum=2.74;QD=12.59;ReadPosRankSum=-0.67;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:57:1|1:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:733,57,0:240207779	3	1	1	5
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1207.52	30	chr1	240207812	.	G	*	1207.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.141;DP=252;ExcessHet=0.0509;FS=3.463;InbreedingCoeff=0.3649;MLEAC=4;MLEAF=0.286;MQ=53.32;MQRankSum=2.37;QD=12.45;ReadPosRankSum=-0.439;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:57:1|1:240207779_TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG_T:733,57,0:240207779	5	1	1	3
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	575.57	46	chr1	243330650	.	G	A	575.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.207;DP=1009;ExcessHet=1.5895;FS=128.873;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.64;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:161,42:203:99:.:.:232,0,2986:.	6	0	4	0
chr1	247723107	247723107	A	G	exonic	OR14A2	.	nonsynonymous SNV	OR14A2:NM_001355292:exon5:c.T937C:p.F313L	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.00359425	0.0107	0	0.004	0	0	0	0	0.0309	0.0009702	150	154602	rs200083087	0.0020	0.0018	0.0010	0.0028	0.0172	0.0019	0.0018	0.0163	0.0160	0	5.833e-05	0	9.363e-05	0	0.0007	1.91e-05	0.0007	0.0172	0.0007	0.0007	0.0003	0.0011	0.0195	0.0006	0.0005	0.0163	0.0151	2.405e-05	0	0	0	0.0006	0	0	1.47e-05	0.0009	0.0195	0.018	0.50676	D	0.353	0.17320	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	7.65	0.00349	T	-0.8	0.22078	N	0.056	0.02759	-1.0508	0.14175	T	0.001	0.00188	T	6	0.003480345	0.00062	T	.	.	.	0.027	0.05988	0.294	0.25720	0.0297737177859	0.01360	0.19771746205453422	0.19688	.	.	.	.	.	3.31E-4	0.00092	T	-0.707004	0.00033	T	-0.776015	0.02576	T	0.00476236788285541	0.00051	T	0.220278	0.02822	T	0.06966756	0.15284	0.059828907	0.11294	0.06966756	0.15283	0.059828907	0.11293	-2.798	0.08165	T	.	.	0.377	0.58269	A	.	.	-0.070687	0.03818	0.814	0.85818884974712306	0.16132	0.00165	0.00980	N	AEFHI	0.024181	0.01456	N	-1.01865736641552	0.08216	0.3844792	-1.24713674369368	0.05173	0.2458715	5.20173013807215E-4	0.07201	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.54	-3.98	0.03810	-0.535000	0.06231	.	.	-0.259000	0.06933	0.000000	0.06391	0.000000	0.08366	0.077000	0.17074	0.2301:0.0:0.424:0.3459	3.756	0.08111	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	.	.	.	.	.	.	.	.	0.05	745.43	35	chr1	247723107	.	A	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.417;DP=422;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=2.63;SOR=0.512	GT:AD:DP:GQ:PL	0/1:69,40:109:99:757,0,1788	9	0	1	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3212.14	93	chr1	248441544	.	G	A	3212.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.25;DP=1127;ExcessHet=0.2348;FS=2.981;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=44.53;MQRankSum=8.15;QD=14.09;ReadPosRankSum=1.88;SOR=0.519	GT:AD:DP:GQ:PL	0/1:42,77:119:99:2025,0,1128	8	0	2	0
chr2	26440481	26440481	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon8:c.C992T:p.T331I	Ciliary dyskinesia, primary, 21, Autosomal recessive	431	1069	21	1	0	23	0.0106432	.	.	.	392850	Primary_ciliary_dyskinesia_21|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.135	.	0.0088	0.0071885	0.0056	0.0193	0.0068	0	0.0003	0.0034	0.0044	0.0100	0.0051293	793	154602	rs143181834	0.0039	0.0039	0.0037	0.0040	0.0196	0.0038	0.0037	0.0184	0.0179	0.0196	0.0039	0.0096	0	0.0007	0.0087	0.0029	0.0047	0.0104	0.0074	0.0074	0.0077	0.0071	0.0191	0.0070	0.0069	0.0180	0.0175	0.0191	0	0.0024	0.0078	0	0.0004	0.0034	0.0032	0.0052	0.0070	0.008	0.58626	D	0.092	0.39954	T	1.0	0.90584	D	0.999	0.92359	D	0.019098	0.27335	N	0.434279	0.53729	0.31441	N	3.11	0.87757	M	2.35	0.16217	T	-4.22	0.75854	D	0.272	0.30800	-0.8284	0.53403	T	0.067	0.27640	T	10	0.0047012568	0.00099	T	.	.	.	0.135	0.36572	.	.	0.345859378078	0.34197	0.2995200133479883	0.29865	0.143505027535	0.16199	0.650931835175	0.60118	T	0.04849	0.28032	T	-0.525459	0.00409	T	-0.511966	0.21112	T	0.021392734080505	0.00842	T	0.762724	0.38847	T	0.15863673	0.35679	0.21951956	0.46694	0.15863673	0.35679	0.21951956	0.46693	-9.181	0.68855	D	.	.	0.204	0.42934	B	.	.	3.625471	0.51325	23.1	0.99905336106589349	0.97651	0.81857	0.41179	D	AEFI	0.401446	0.47593	N	0.560431400868571	0.70720	5.543083	0.475017264697382	0.66338	4.939222	0.999440158746165	0.39736	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.17	4.29	0.50359	2.943000	0.48719	2.683000	0.34031	0.599000	0.40250	0.994000	0.38300	0.993000	0.31925	0.941000	0.48210	0.0:0.9204:0.0:0.0796	13.104	0.58650	418	0.81602	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.015152	0.006793	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	2154.43	42	chr2	26440481	.	C	T	2154.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.19;DP=594;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.903;SOR=0.715	GT:AD:DP:GQ:PL	0/1:109,101:210:99:2166,0,2448	9	0	1	0
chr2	29383765	29383765	C	T	exonic	ALK	.	nonsynonymous SNV	ALK:NM_004304:exon5:c.G1249A:p.V417M	.	1	1517	4	0	0	4	0.00131666	.	.	.	288996	Hereditary_cancer-predisposing_syndrome|Neuroblastoma,_susceptibility_to,_3	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013083,MedGen:C2751681,OMIM:613014,Orphanet:635	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.233	0.0136436520712	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886055931	2.736e-06	2.736e-06	0	5.5e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.131	0.34596	T	0.973	0.57599	D	0.738	0.55619	P	0.006320	0.32122	N	0.000000	0.996514	0.81001	D	0	0.06538	N	4.23	0.02616	T	-0.74	0.20791	N	0.377	0.41853	-0.6748	0.61611	T	0.013	0.05177	T	9	0.33159825	0.50379	T	0.013644	0.33196	T	0.233	0.53499	0.242	0.17524	0.611038123743	0.60791	0.35552400121923233	0.35466	0.353429344433	0.37145	0.591024816036	0.51638	T	0.074803	0.35025	T	-0.0275541	0.47772	T	-0.277356	0.47075	T	0.589602339342177	0.35990	D	0.777822	0.41150	T	0.097921595	0.23089	0.100948945	0.24151	0.097921595	0.23089	0.100948945	0.24151	-4.601	0.32184	T	.	.	0.322	0.54623	B	.;.	.;.	4.619491	0.73340	26.0	0.99895841201538604	0.96895	0.89015	0.49233	D	AEFI	0.208580	0.33465	N	0.410592106906504	0.62004	4.409483	0.504469044310729	0.68292	5.19977	0.950876442702386	0.27923	0.500041	0.20204	0	0.59043	0.45803	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	6.02	6.02	0.97559	2.317000	0.43429	7.628000	0.62604	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.693	0.88181	664	0.61548	MAM domain|MAM domain|MAM 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	.	.	.	.	.	.	.	.	0.05	1450.43	34	chr2	29383765	.	C	T	1450.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.964;DP=440;ExcessHet=0;FS=4.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.555;SOR=0.709	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1462,0,1444	9	0	1	0
chr2	32812511	32812511	A	G	exonic	TTC27	.	nonsynonymous SNV	TTC27:NM_001193509:exon18:c.A2054G:p.Q685R,TTC27:NM_017735:exon18:c.A2204G:p.Q735R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0175896223755	0.0012	.	0.0006	0.0002	0.0003	0	0	0.0009	0	0.0001	0.0005627	87	154602	rs138466700	0.0009	0.0009	0.0009	0.0009	0.0010	0.0008	0.0008	0.0010	0.0009	0.0002	0.0008	0.0023	0	0	0.0009	0.0010	0.0009	4.648e-05	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0006	0.0006	0.0002	0	0.0010	0.0023	0	0	0	0.0008	0.0024	0.0002	0.006	0.61437	D	0.042	0.50226	D	0.321	0.33029	B	0.1	0.30674	B	0.000425	0.44522	D	0.198555	0.999997	0.58761	D	2.725	0.79712	M	1.2	0.37405	T	-2.43	0.53258	N	0.57	0.59308	-1.0465	0.15389	T	0.079	0.31435	T	10	0.06265825	0.08046	T	0.01759	0.39349	T	0.175	0.44197	.	.	0.421184727016	0.41734	0.4835292919405048	0.48272	0.129811716182	0.14634	0.399931490421	0.25060	T	0.173515	0.52241	T	-0.289085	0.09728	T	-0.212655	0.53441	T	0.146230721394189	0.16800	T	0.857114	0.54640	D	0.33982012	0.56266	0.2592431	0.51669	0.33982012	0.56266	0.2592431	0.51669	-3.737	0.19865	T	.	.	0.097	0.15832	B	.	.	3.263800	0.44646	22.0	0.99678416016380544	0.79108	0.91443	0.53544	D	ALL	0.754303	0.69422	D	-0.028856392830235	0.40552	2.41018	0.121293419843354	0.45639	2.823591	0.999999999996286	0.74766	0.839682	0.99964	0	0.724815	0.89359	0	0.659464	0.59346	0	0.830532	0.99962	0	.	.	5.18	5.18	0.71140	5.818000	0.68915	7.004000	0.57207	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.021	0.71291	210	0.91826	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1690.43	34	chr2	32812511	.	A	G	1690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.769;DP=445;ExcessHet=0;FS=1.417;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.232;SOR=0.836	GT:AD:DP:GQ:PL	0/1:58,74:132:99:1702,0,1418	9	0	1	0
chr2	36479554	36479554	C	T	exonic	CRIM1	.	nonsynonymous SNV	CRIM1:NM_016441:exon7:c.C1232T:p.A411V	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0248389160752	7.7e-05	.	4.119e-05	0	0	0	0	4.496e-05	0	0.0001	3.23e-05	5	154602	rs369088958	3.557e-05	3.557e-05	3.131e-05	3.988e-05	0.0003	2.762e-05	2.501e-05	6.092e-05	4.042e-05	0	0.0001	0	0	0	0.0003	2.878e-05	6.623e-05	0.0001	1.314e-05	1.313e-05	1.285e-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	0.059	0.37536	T	0.064	0.44905	T	0.982	0.60036	D	0.864	0.61462	P	0.000012	0.62929	D	0.112485	0.999968	0.52935	D	2.08	0.57402	M	-0.67	0.72458	T	-1.49	0.36385	N	0.642	0.65416	-0.5177	0.68000	T	0.356	0.71873	T	10	0.62277395	0.68072	D	0.024839	0.47825	T	0.376	0.69443	.	.	0.788773104087	0.78681	0.28720434311986587	0.28633	0.863726277487	0.69089	0.531118988991	0.43192	T	0.080719	0.36429	T	-0.0191033	0.48980	T	-0.00553798	0.69976	D	0.368801534175873	0.27751	T	0.931207	0.74412	D	0.12226066	0.28735	0.14209023	0.33816	0.12226066	0.28734	0.14209023	0.33815	-6.908	0.53358	T	.	.	0.261	0.49577	B	.	.	4.874840	0.79899	27.2	0.99928083905759579	0.99222	0.91036	0.52735	D	AEFBHCI	0.795330	0.72278	D	0.504406284965354	0.67350	5.069898	0.526584015670405	0.69785	5.410131	0.999999999996352	0.74766	0.722319	0.85440	0	0.670034	0.63936	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.34	5.34	0.75982	3.882000	0.55873	7.700000	0.66237	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.844000	0.39860	0.0:0.8493:0.1507:0.0	14.068	0.64365	930	0.16408	VWFC domain|VWFC domain|VWFC domain|VWFC 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	.	.	.	.	.	.	.	.	0.05	2031.43	35	chr2	36479554	.	C	T	2031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.121;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.172;SOR=0.652	GT:AD:DP:GQ:PL	0/1:53,87:140:99:2043,0,1187	9	0	1	0
chr2	37228936	37228936	G	T	exonic	CEBPZ	.	nonsynonymous SNV	CEBPZ:NM_005760:exon2:c.C257A:p.A86E	.	447	1069	5	1	0	7	0.0032634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.00658580199601	.	.	0.0003	0	8.743e-05	0	0	0	0.0022	0.0018	0.0002135	33	154602	rs753188011	0.0002	0.0002	4.771e-05	0.0003	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0002	6.3e-06	8.289e-05	0.0026	7.228e-05	7.876e-05	1.286e-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	0.027	0.58626	D	0.542	0.67890	T	0.577	0.38740	P	0.166	0.35067	B	0.001117	0.40219	N	0.279795	0.829737	0.28775	N	2.515	0.73286	M	4.26	0.02538	T	-0.6	0.55339	N	0.245	0.27673	-1.0571	0.12491	T	0.011	0.04042	T	10	0.024687827	0.00688	T	0.006586	0.17358	T	0.144	0.38394	0.313	0.28774	0.482574385019	0.47888	0.3121838290983776	0.31131	0.018529855909	0.01803	0.362130075693	0.19695	T	0.040736	0.58889	T	-0.423029	0.01636	T	-0.387692	0.34823	T	0.107018404410284	0.13112	T	0.785321	0.42297	T	0.29891884	0.52808	0.3171151	0.57688	0.29891884	0.52808	0.3171151	0.57688	-2.64	0.06813	T	.	.	0.141	0.51023	B	.;.	.;.	2.603944	0.33808	19.45	0.96963111189555162	0.31787	0.95005	0.63093	D	AEFDBHCI	0.306112	0.41335	N	0.245682361104329	0.53426	3.511468	0.384723930822982	0.60621	4.251906	0.999999997332259	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.662677	0.59975	0	0.727631	0.95156	0	.	.	5.65	5.65	0.86881	3.883000	0.55880	8.486000	0.77314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.725	0.96155	499	0.76092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	539.43	39	chr2	37228936	.	G	T	539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.181;DP=361;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.792;SOR=0.731	GT:AD:DP:GQ:PL	0/1:22,24:46:99:551,0,538	9	0	1	0
chr2	43977258	43977258	C	A	exonic	LRPPRC	.	nonsynonymous SNV	LRPPRC:NM_133259:exon4:c.G488T:p.S163I	Leigh syndrome, French-Canadian type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.0818317567658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.825	0.82220	M	0.43	0.64818	T	-4.67	0.86608	D	0.815	0.86725	-0.2992	0.75007	T	0.448	0.78342	T	10	0.7429193	0.75085	D	0.081832	0.73768	D	0.464	0.76023	0.484	0.56621	0.815112173069	0.81336	0.5658554416504331	0.56513	0.169403317685	0.19092	0.645527660847	0.59350	T	0.627874	0.88427	D	0.35558	0.86911	D	0.272989	0.86741	D	0.997137188911438	0.90849	D	0.948405	0.85476	D	0.7689559	0.81985	0.658335	0.79988	0.7689559	0.81987	0.658335	0.79989	-14.461	0.94458	D	0.8086371406528	0.88403	0.916	0.84672	P	.;.;.;.	.;.;.;.	4.938684	0.81482	27.6	0.99487055126568869	0.67235	0.98647	0.85104	D	AEFGBI	0.682359	0.64540	D	0.701844318046965	0.79753	7.144766	0.679316723196351	0.80810	7.382656	0.999999999998739	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.25	5.25	0.73169	6.102000	0.71139	7.697000	0.66086	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.213	0.93753	704	0.57414	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	574.43	34	chr2	43977258	.	C	A	574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.085;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.12;SOR=0.631	GT:AD:DP:GQ:PL	0/1:32,24:56:99:586,0,858	9	0	1	0
chr2	47800616	47800616	T	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.T2243C:p.V748A,MSH6:NM_001281493:exon3:c.T1727C:p.V576A,MSH6:NM_000179:exon4:c.T2633C:p.V878A,MSH6:NM_001281494:exon4:c.T1727C:p.V576A	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	0	1484	37	1	0	39	0.0129697	.	.	YES	23970	Hereditary_cancer-predisposing_syndrome|Colorectal_/_endometrial_cancer|Breast_and/or_ovarian_cancer|Lynch_syndrome|not_specified|Mismatch_repair_cancer_syndrome_3|Endometrial_carcinoma|Lynch_syndrome_5|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Carcinoma_of_colon|Malignant_tumor_of_breast	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221548|MedGen:CN221562|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MedGen:CN169374|MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0007254,MedGen:C0006142	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.155	.	0.0055	0.00399361	0.0053	0.0011	0.0019	0.0001	0.0003	0.0074	0.0055	0.0064	0.0053039	820	154602	rs2020912	0.0059	0.0059	0.0057	0.0061	0.0170	0.0058	0.0057	0.0143	0.0133	0.0008	0.0034	0.0100	5.038e-05	0.0007	0.0170	0.0064	0.0052	0.0065	0.0046	0.0046	0.0046	0.0047	0.0073	0.0043	0.0042	0.0066	0.0064	0.0008	0.0022	0.0073	0.0069	0	0.0007	0	0.0071	0.0066	0.0052	0.338	0.14645	T	0.478	0.18178	T	0.036	0.20732	B	0.026	0.20792	B	0.003501	0.34847	N	0.308092	2.5814e-05	0.20667	A	1.105	0.28596	L	-2.7	0.90509	D	-1.19	0.30346	N	0.172	0.18920	-0.3685	0.73007	T	0.421	0.76616	T	9	0.035881698	0.01858	T	.	.	.	0.155	0.40530	.	.	0.853631389444	0.85222	0.4509105311589898	0.45009	.	.	0.397578775883	0.24733	T	0.410047	0.76490	T	-0.334646	0.05767	T	-0.249047	0.49909	T	0.00170501993543491	0.00017	T	0.751525	0.37371	T	0.26617947	0.49687	0.09885118	0.23582	0.28716815	0.51729	0.11148119	0.26890	-3.425	0.15395	T	0.0878413940063621	0.05203	0.067	0.05060	B	.;.;.;.;.	.;.;.;.;.	0.764925	0.11347	7.965	0.7259771545986986	0.10029	0.52323	0.29104	D	AEFBCI	0.104344	0.20880	N	-0.873356904237767	0.11479	0.5541805	-0.862848901577208	0.12979	0.6707646	0.993847780497258	0.33379	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	1.99	0.25423	0.373000	0.20215	1.239000	0.25094	0.609000	0.47794	0.000000	0.06391	0.929000	0.28499	0.606000	0.31539	0.0:0.2974:0.0:0.7026	8.107	0.30053	905	0.23532	.;.;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;.	.	.	.	.	.	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	0.012085	0.000000	0.012228	0.014620	0.000000	0.034483	0.015244	0.015152	0.05	1363.43	34	chr2	47800616	.	T	C	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=543;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.26;SOR=0.693	GT:AD:DP:GQ:PL	0/1:82,62:144:99:1375,0,1864	9	0	1	0
chr2	61045729	61045729	G	C	exonic	PEX13	.	nonsynonymous SNV	PEX13:NM_002618:exon3:c.G791C:p.S264T	Peroxisome biogenesis disorder 11A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 11B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	193512	PEX13-related_disorder|not_provided|Peroxisome_biogenesis_disorder_11A_(Zellweger)	.|MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883,Orphanet:912	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0249497995652	0.0003	0.000199681	0.0002	0.0015	0.0003	0	0	0	0.0011	0	0.0001423	22	154602	rs145568490	5.957e-05	5.951e-05	6.404e-05	5.505e-05	0.0014	4.887e-05	4.565e-05	0.0011	0.0009	0.0014	0.0002	0	0	0	0.0007	1.53e-05	0.0002	0	0.0004	0.0004	0.0004	0.0005	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0003	0	0	0	0.0136	4.409e-05	0.0005	0	0.51	0.07497	T	0.407	0.14679	T	0.0	0.02946	B	0.001	0.04355	B	0.082016	0.20833	N	0.563033	1	0.08975	N	1.225	0.30651	L	-1.11	0.77466	T	-0.82	0.22508	N	0.092	0.07125	-0.9644	0.38330	T	0.188	0.53901	T	10	0.0068106055	0.00155	T	0.02495	0.47933	T	0.138	0.37187	.	.	0.409937222855	0.40610	0.3614205378398695	0.36056	0.0773626685617	0.08700	0.29106721282	0.09077	T	0.421819	0.77310	T	-0.543574	0.00319	T	-0.594116	0.13311	T	0.00099904113068006	0.00010	T	0.476552	0.14308	T	0.033065986	0.03453	0.03140908	0.01725	0.033065986	0.03452	0.03140908	0.01724	-3.657	0.18685	T	0.13291093763723955	0.14214	0.064	0.01786	B	.	.	-0.014295	0.04185	1.014	0.49827828740230484	0.04278	0.03926	0.09316	N	AEFBI	0.065066	0.12669	N	-1.22635388024388	0.04621	0.2089341	-1.2172627269665	0.05632	0.2688999	0.999689508198384	0.41756	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	-2.31	0.06380	-0.032000	0.12217	-0.802000	0.07370	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.825000	0.38878	0.3869:0.1664:0.4468:0.0	7.686	0.27708	429	0.80881	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	760.43	33	chr2	61045729	.	G	C	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.609;DP=365;ExcessHet=0;FS=2.276;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-1.501;SOR=1.066	GT:AD:DP:GQ:PL	0/1:30,31:61:99:772,0,749	9	0	1	0
chr2	64551713	64551713	G	A	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.G239A:p.S80N,AFTPH:NM_001375969:exon2:c.G239A:p.S80N,AFTPH:NM_001375970:exon2:c.G239A:p.S80N,AFTPH:NM_001375971:exon2:c.G239A:p.S80N,AFTPH:NM_001375972:exon2:c.G239A:p.S80N,AFTPH:NM_001375973:exon2:c.G239A:p.S80N,AFTPH:NM_017657:exon2:c.G239A:p.S80N,AFTPH:NM_203437:exon2:c.G239A:p.S80N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0172727490447	0.0004	0.000199681	0.0002	0.0017	0.0002	0	0	3e-05	0	0	0.0001552	24	154602	rs202065069	8.484e-05	8.482e-05	8.577e-05	8.391e-05	0.0025	7.21e-05	6.798e-05	0.0020	0.0019	0.0025	0.0002	0	0	0	0.0009	1.079e-05	0.0002	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0004	0.0016	0.0014	0.0019	0	0.0001	0	0	0	0.0034	2.941e-05	0.0014	0	0.003	0.68238	D	0.016	0.60972	D	0.996	0.68779	D	0.866	0.61580	P	0.000437	0.44522	D	0.205916	0.752549	0.29623	N	2.585	0.75554	M	1.36	0.34452	T	-0.8	0.22078	N	0.166	0.28498	-0.7363	0.58642	T	0.208	0.56662	T	10	0.022627383	0.00570	T	0.017273	0.38900	T	0.095	0.27398	.	.	0.392430962328	0.38859	0.10879067650289427	0.10808	0.338869975	0.35849	0.524053156376	0.42197	T	0.007923	0.07293	T	-0.489141	0.00657	T	-0.481561	0.24281	T	0.0326249894154693	0.02409	T	0.824218	0.48580	T	0.2954287	0.52492	0.24931799	0.50500	0.2954287	0.52492	0.24931799	0.50499	-4.129	0.25716	T	.	.	0.097	0.22282	B	.;.;.	.;.;.	2.996779	0.40031	21.1	0.99454825657901536	0.65479	0.83608	0.42714	D	AEFGBI	0.284003	0.39698	N	0.694638148025985	0.79280	7.044737	0.693510290848198	0.81884	7.632628	0.999980702452312	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	3.215000	0.50871	4.500000	0.43606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1721:0.8279:0.0	15.858	0.78786	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.008152	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1531.43	33	chr2	64551713	.	G	A	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.093;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.481;SOR=0.723	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1543,0,2170	9	0	1	0
chr2	70979738	70979738	-	C	exonic	ANKRD53	.	frameshift insertion	ANKRD53:NM_001115116:exon3:c.496dupC:p.V167Rfs*8,ANKRD53:NM_001369683:exon3:c.394dupC:p.V133Rfs*8,ANKRD53:NM_024933:exon3:c.496dupC:p.V167Rfs*8	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1767.39	35	chr2	70979738	.	T	TC	1767.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=441;ExcessHet=0;FS=3.362;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.6;SOR=1.075	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1779,0,1653	9	0	1	0
chr2	73265335	73265335	G	A	exonic	FBXO41	.	nonsynonymous SNV	FBXO41:NM_001371389:exon5:c.C1511T:p.A504V,FBXO41:NM_001080410:exon9:c.C1511T:p.A504V	.	388	1096	36	2	0	40	0.0179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0003	0.0107827	0.0078	0.0006	0.0518	0.0004	0	0.0008	0.0047	0.0162	0.0070956	1097	154602	rs188487265	0.0030	0.0030	0.0026	0.0033	0.0480	0.0029	0.0029	0.0463	0.0456	0.0004	0.0480	0.0011	0.0014	0.0002	0.0097	0.0003	0.0037	0.0163	0.0058	0.0058	0.0045	0.0071	0.0462	0.0054	0.0053	0.0434	0.0423	0.0006	0	0.0462	0.0009	0.0012	0	0.0068	0.0006	0.0085	0.0157	0.476	0.08335	T	0.442	0.13252	T	0.0	0.02946	B	0.0	0.01387	B	0.847931	0.08984	N	0.917792	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.55	0.16799	N	0.072	0.04547	-1.0155	0.25175	T	0.006	0.02206	T	9	0.0017401278	0.00022	T	.	.	.	0.003	0.00094	.	.	0.138757226776	0.13463	0.18048622107473394	0.17967	0.301249995044	0.32469	0.411466300488	0.26660	T	0.006353	0.05784	T	-0.724524	0.00026	T	-0.778468	0.02500	T	0.00164849263473556	0.00017	T	0.430157	0.11673	T	0.027925882	0.02054	0.0304026	0.01492	0.027925882	0.02053	0.0304026	0.01492	-4.233	0.27226	T	.	.	0.062	0.01328	B	.;.;.	.;.;.	-0.518353	0.01809	0.142	0.72745171607099846	0.10081	0.06569	0.12583	N	AEFDBI	0.053189	0.09562	N	-1.45363776807987	0.02188	0.09635119	-1.46179851677538	0.02665	0.1229868	0.989634082244431	0.31888	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.39	-3.03	0.05100	-0.510000	0.06411	-0.252000	0.10498	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5201:0.0:0.2657:0.2142	5.979	0.18627	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	0	0	0.009082	0.000000	0.006793	0.005848	0.000000	0.000000	0.021472	0.015152	0.05	1078.43	33	chr2	73265335	.	G	A	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.447;SOR=0.71	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1090,0,774	9	0	1	0
chr2	73784343	73784343	G	A	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon1:c.G34A:p.A12T	.	628	884	8	2	0	12	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000846598976948	.	.	0	0	.	.	.	0	.	.	6.47e-05	10	154602	rs763969172	0.0016	0.0014	0.0009	0.0023	0.0186	0.0016	0.0015	0.0178	0.0175	0.0002	0.0004	8.669e-05	0	5.959e-05	0.0029	0.0004	0.0012	0.0186	0.0008	0.0008	0.0006	0.0011	0.0155	0.0007	0.0007	0.0126	0.0116	4.914e-05	0	0.0005	0	0	0	0.0068	0.0006	0.0010	0.0155	0.621	0.05293	T	1.0	0.01155	T	0.331	0.33259	B	0.062	0.26930	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	0.88	0.01664	N	0.032	0.00825	-1.0002	0.29860	T	0.022	0.09421	T	8	0.0033150315	0.00057	T	8.47E-4	0.00734	T	0.026	0.05648	0.142	0.04556	0.0806252709748	0.07271	0.0034152991731072188	0.00319	0.0643857280339	0.07174	.	.	.	0.013262	0.11507	T	-0.651193	0.00071	T	-0.691913	0.06280	T	0.0201953202878348	0.00719	T	0.386161	0.09499	T	0.017668607	0.00292	0.04122659	0.04637	0.017668607	0.00292	0.04122659	0.04637	-3.259	0.13214	T	.	.	0.08	0.07793	B	.	.	0.294376	0.06705	3.211	0.64985530446057449	0.07645	0.00366	0.01868	N	AEFI	0.021671	0.00992	N	-1.3769359367759	0.02855	0.126686	-1.37359659550125	0.03535	0.1651233	0.940112614179508	0.27418	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.9	1.72	0.23498	0.044000	0.13876	0.604000	0.19959	-0.585000	0.04679	0.002000	0.15269	0.001000	0.17328	0.085000	0.17524	0.0:0.0:0.2736:0.7264	6.092	0.19222	392	0.83172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	53.46	9	chr2	73784343	.	G	A	53.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.887;DP=116;ExcessHet=0;FS=3.332;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.05;MQ=29.76;MQRankSum=-0.854;QD=6.68;ReadPosRankSum=0.703;SOR=0.88	GT:AD:DP:GQ:PL	0/1:5,3:8:65:65,0,144	9	0	1	0
chr2	74679859	74679859	C	T	exonic	SEMA4F	.	nonsynonymous SNV	SEMA4F:NM_001271661:exon10:c.C1498T:p.R500W,SEMA4F:NM_001271662:exon13:c.C1864T:p.R622W,SEMA4F:NM_004263:exon14:c.C1963T:p.R655W	.	.	.	.	.	.	.	.	.	.	.	2684767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0175923680931	7.7e-05	0.000199681	0.0001	9.75e-05	0	0	0.0008	0.0001	0.0011	0	0.0001164	18	154602	rs149518003	7.046e-05	7.046e-05	7.215e-05	6.875e-05	4.496e-05	5.913e-05	5.522e-05	3.459e-05	3.121e-05	0	2.236e-05	0	0	0.0007	0	4.496e-05	0.0002	1.159e-05	7.22e-05	7.218e-05	0.0001	1.342e-05	5.88e-05	3.967e-05	3.124e-05	1.972e-05	1.124e-05	2.405e-05	0	0	0	0	0.0006	0	5.88e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.985	0.68779	D	0.232	0.48638	B	0.000008	0.00162	N	12.335200	0.984224	0.25511	N	0.695	0.17993	N	2.01	0.25509	T	-2.58	0.55662	D	0.206	0.53972	-0.8787	0.49864	T	0.060	0.25127	T	10	0.06297827	0.08135	T	0.017592	0.39349	T	0.130	0.35528	.	.	0.302793454619	0.29890	0.34192018842741206	0.34105	0.668619433952	0.59308	0.28622508049	0.08375	T	0.096225	0.39781	T	-0.261649	0.12708	T	-0.421934	0.30852	T	0.211288546375224	0.21021	T	0.920908	0.71352	D	0.35457844	0.57421	0.28004616	0.53977	0.35457844	0.57422	0.28004616	0.53976	-3.136	0.11714	T	.	.	0.092	0.15475	B	.;.;.	.;.;.	3.506881	0.49089	22.7	0.99715119943083841	0.81633	0.56811	0.30213	D	AEFDBI	0.265728	0.38279	N	-0.123365154643979	0.36375	2.101837	-0.1272540325227	0.34296	1.971181	0.987110328714761	0.31187	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.11	5.11	0.69188	2.376000	0.43947	2.679000	0.34003	0.549000	0.26987	0.743000	0.29058	0.157000	0.23230	0.073000	0.16832	0.0:1.0:0.0:0.0	14.043	0.64205	103	0.95740	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1004.43	41	chr2	74679859	.	C	T	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=419;ExcessHet=0;FS=1.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.19;SOR=0.49	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1016,0,1116	9	0	1	0
chr2	85401223	85401223	C	T	exonic	CAPG	.	nonsynonymous SNV	CAPG:NM_001256139:exon5:c.G458A:p.R153Q,CAPG:NM_001256140:exon5:c.G458A:p.R153Q,CAPG:NM_001320732:exon5:c.G458A:p.R153Q,CAPG:NM_001320733:exon5:c.G458A:p.R153Q,CAPG:NM_001320734:exon5:c.G458A:p.R153Q,CAPG:NM_001747:exon5:c.G458A:p.R153Q	.	388	1133	1	0	0	1	0.000441112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0120149818101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913957735	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	6.708e-05	0	0	1.872e-05	0.0003	9.892e-06	0	2.319e-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	0.044	0.50132	D	0.007	0.69154	D	1.0	0.90584	D	0.865	0.61524	P	0.004375	0.33816	N	0.316153	0.751396	0.33933	D	0.805	0.20218	L	-0.01	0.62762	T	0.5	0.03041	N	0.261	0.34336	-0.6514	0.62653	T	0.212	0.57294	T	10	0.19547835	0.35401	T	0.012015	0.30193	T	0.081	0.23632	0.616	0.75000	0.460352466543	0.45661	0.6123829610109239	0.61170	0.179260557738	0.20168	0.403360337019	0.25537	T	0.114428	0.43224	T	-0.115775	0.33816	T	-0.321214	0.42441	T	0.412994598288411	0.29429	T	0.825817	0.60169	T	0.26483718	0.49552	0.13337402	0.31983	0.26483718	0.49552	0.13337402	0.31982	-5.129	0.38211	T	.	.	0.091	0.18372	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.348717	0.46180	22.3	0.99909749287776373	0.97949	0.33401	0.24819	N	AEFDBI	0.323379	0.42559	N	-0.215914393615208	0.32481	1.832215	-0.133161846160522	0.34063	1.955236	0.999997563886842	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.83	4.06	0.46572	2.083000	0.41239	1.415000	0.26314	0.599000	0.40250	0.998000	0.41325	0.662000	0.26021	0.969000	0.54022	0.0:0.8299:0.0:0.1701	8.897	0.34631	880	0.29376	Gelsolin-like domain;.;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1426.43	36	chr2	85401223	.	C	T	1426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.268;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.792;SOR=0.648	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1438,0,1868	9	0	1	0
chr2	95149907	95149907	T	C	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.A797G:p.N266S,ZNF514:NM_032788:exon5:c.A578G:p.N193S	.	.	.	.	.	.	.	.	.	.	.	3934812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00129410648804	.	.	1.654e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs760752906	2.599e-05	2.599e-05	2.314e-05	2.888e-05	0.0031	1.932e-05	1.692e-05	0.0020	0.0017	2.987e-05	0	0	2.519e-05	0	0.0031	1.169e-05	4.967e-05	2.319e-05	1.313e-05	1.312e-05	0	2.687e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.305	0.14256	T	0.684	0.06033	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.395	0.03011	N	3.54	0.04799	T	-0.31	0.12099	N	0.093	0.07673	-0.9445	0.41895	T	0.009	0.03359	T	9	0.036886424	0.02011	T	0.001294	0.01784	T	0.008	0.00669	0.139	0.04277	0.202086224978	0.19791	0.009954929332146418	0.00957	0.0344876997802	0.03621	0.252298265696	0.04013	T	0.007305	0.06724	T	-0.548153	0.00299	T	-0.843633	0.01046	T	0.0445090506490873	0.04513	T	0.0310969	0.00196	T	0.020111077	0.00558	0.020771839	0.00154	0.020111077	0.00558	0.020771839	0.00154	-4.142	0.25907	T	.	.	0.073	0.04640	B	.;.	.;.	-0.582423	0.01620	0.111	0.5638992580161325	0.05542	0.00047	0.00373	N	AEFDBHCI	0.037725	0.05230	N	-1.4928207148878	0.01900	0.08338407	-1.53572316700936	0.02075	0.09492822	0.0620397683091703	0.15251	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.71	-2.38	0.06243	-0.994000	0.03827	.	.	-1.425000	0.01122	0.000000	0.06391	.	.	0.012000	0.09680	0.0:0.1882:0.3093:0.5025	4.630	0.11884	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1921.43	33	chr2	95149907	.	T	C	1921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.313;DP=517;ExcessHet=0;FS=0.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.702;SOR=0.641	GT:AD:DP:GQ:PL	0/1:81,83:164:99:1933,0,1950	9	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	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	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:124,37:161:99:691,0,3307	0	0	10	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	.	.	.	.	.	.	.	.	0.25	2496.4	201	chr2	95855406	.	C	G	2496.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.676;DP=2375;ExcessHet=2.8389;FS=5.12;InbreedingCoeff=-0.3061;MLEAC=4;MLEAF=0.2;MQ=53.72;MQRankSum=-6.642;QD=2.08;ReadPosRankSum=-2.045;SOR=1.277	GT:AD:DP:GQ:PL	0/1:142,56:198:99:1112,0,3744	5	0	5	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	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:143,109:252:99:2372,0,3620	0	0	10	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	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:138,73:211:99:1623,0,3817	0	0	10	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	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:143,58:201:99:1060,0,3959	0	0	10	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	.	.	.	.	.	.	.	.	0.35	3460.98	101	chr2	95859895	.	T	C	3460.98	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.147;DP=709;ExcessHet=7.0302;FS=1.515;InbreedingCoeff=-0.5391;MLEAC=7;MLEAF=0.35;MQ=58.18;MQRankSum=-1.883;QD=7.09;ReadPosRankSum=-0.362;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,12:76:99:.:.:285,0,2580:.	3	0	7	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	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,24:133:99:0|1:95859969_A_AT:680,0,4477:95859969	0	0	10	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	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,24:133:99:0|1:95859969_A_AT:680,0,4477:95859969	0	0	10	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	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,24:132:99:0|1:95859969_A_AT:683,0,4442:95859969	0	0	10	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	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:106,22:128:99:571,0,2646	0	0	10	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	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,22:126:99:0|1:95860002_T_A:611,0,4225:95860002	0	0	10	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	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,22:125:99:0|1:95860002_T_A:614,0,4203:95860002	0	0	10	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	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,18:112:99:0|1:95860020_G_A:473,0,3746:95860020	0	0	10	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	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,18:110:99:0|1:95860020_G_A:479,0,3703:95860020	0	0	10	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	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,12:87:99:.:.:279,0,1884:.	1	0	9	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	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,19:125:99:0|1:95927222_G_GAT:479,0,4373:95927222	0	0	10	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	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,30:143:99:0|1:95927222_G_GAT:920,0,4634:95927222	0	0	10	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	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,38:158:99:0|1:95927222_G_GAT:1234,0,4924:95927222	0	0	10	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	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,67:216:99:0|1:95927222_G_GAT:2365,0,6055:95927222	0	0	10	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	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,99:260:99:0|1:95927222_G_GAT:3632,0,6444:95927222	0	0	10	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	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,102:267:99:0|1:95927222_G_GAT:3685,0,6538:95927222	0	0	10	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	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,28:123:99:0|1:95929092_T_C:811,0,3839:95929092	0	0	10	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	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,29:133:99:0|1:95929092_T_C:905,0,4280:95929092	0	0	10	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	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,44:171:99:0|1:95929092_T_C:1465,0,5200:95929092	0	0	10	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	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,46:175:99:0|1:95929092_T_C:1543,0,5278:95929092	0	0	10	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	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,52:188:99:0|1:95929092_T_C:1749,0,5510:95929092	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2008.94	160	chr2	97185336	.	GC	G	2008.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.691;DP=1002;ExcessHet=10.3881;FS=1.877;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.13;MQRankSum=-4.821;QD=2.23;ReadPosRankSum=0.714;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,9:116:56:0|1:97185336_GC_G:56,0,4445:97185336	2	0	8	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	.	.	.	.	.	.	.	.	0.4	2007.98	167	chr2	97185340	.	C	G	2007.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.465;DP=1013;ExcessHet=10.3881;FS=1.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.82;MQRankSum=-4.808;QD=2.2;ReadPosRankSum=0.876;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,9:119:47:0|1:97185336_GC_G:47,0,4571:97185336	2	0	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1983.94	169	chr2	97185341	.	A	AG	1983.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.507;DP=1021;ExcessHet=10.3881;FS=0.867;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.66;MQRankSum=-4.689;QD=2.15;ReadPosRankSum=1.2;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,9:118:50:0|1:97185336_GC_G:50,0,4550:97185336	2	0	8	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1905.94	179	chr2	97185345	.	GTAAT	G	1905.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.397;DP=1063;ExcessHet=10.3881;FS=0.865;InbreedingCoeff=-0.6663;MLEAC=8;MLEAF=0.4;MQ=45.93;MQRankSum=-4.495;QD=1.98;ReadPosRankSum=1.87;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,9:126:26:0|1:97185336_GC_G:26,0,4873:97185336	2	0	8	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	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,62:142:99:0|1:97513219_T_C:2363,0,3173:97513219	0	0	10	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	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,68:150:99:0|1:97513219_T_C:2608,0,3223:97513219	0	0	10	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	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,82:181:99:0|1:97513244_G_T:3145,0,3863:97513244	0	0	10	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	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,89:191:99:0|1:97513244_G_T:3430,0,3979:97513244	0	0	10	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	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,89:191:99:0|1:97513244_G_T:3430,0,3979:97513244	0	0	10	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	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,94:206:99:0|1:97513268_C_T:3610,0,4420:97513268	0	0	10	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	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,97:213:99:0|1:97513268_C_T:3668,0,4538:97513268	0	0	10	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	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,97:214:99:0|1:97513268_C_T:3665,0,4565:97513268	0	0	10	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	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,105:224:99:0|1:97513268_C_T:3827,0,4524:97513268	0	0	10	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	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:103,30:133:99:472,0,2481	0	0	10	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	544.3	97	chr2	99390613	.	G	A	544.3	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.313;DP=859;ExcessHet=1.5895;FS=106.986;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.22;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,22:121:99:.:.:120,0,2157:.	6	0	3	1
chr2	100993492	100993492	C	A	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon20:c.C2257A:p.Q753K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0504022510586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.021	0.58089	D	0.293	0.32367	B	0.073	0.28123	B	0.076082	0.21183	U	0.218676	0.999879	0.50225	D	1.735	0.44892	L	3.38	0.05778	T	-1.77	0.41809	N	0.62	0.63544	-0.9108	0.46756	T	0.164	0.50061	T	10	0.59245646	0.66456	D	0.050402	0.64228	D	0.119	0.33137	.	.	0.278043722374	0.27408	0.409203025342036	0.40836	0.578734372213	0.53773	0.496260881424	0.38307	T	0.230623	0.59674	T	-0.0990368	0.36584	T	-0.380036	0.35718	T	0.513148903846741	0.33113	D	0.758124	0.38180	T	0.18506126	0.39851	0.13561462	0.32465	0.18506126	0.39851	0.13561462	0.32464	-6.893	0.53247	T	.	.	0.110	0.21239	B	.	.	3.104722	0.41856	21.4	0.97806254516202795	0.36097	0.96144	0.67734	D	AEFDBI	0.611591	0.59998	D	0.293889915952202	0.55839	3.747958	0.328847814594958	0.57239	3.88918	0.999999899600834	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	4.919000	0.63082	3.934000	0.40555	0.333000	0.19617	0.998000	0.41325	0.999000	0.35428	0.142000	0.20019	0.0:1.0:0.0:0.0	17.617	0.87973	725	0.54935	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	463.43	38	chr2	100993492	.	C	A	463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.146;DP=379;ExcessHet=0;FS=1.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.178;SOR=1.14	GT:AD:DP:GQ:PL	0/1:24,18:42:99:475,0,688	9	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP 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	.	.	.	.	.	.	.	.	0.15	130.48	34	chr2	106413119	.	A	G	130.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.55;DP=388;ExcessHet=0.7463;FS=27.782;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=49.23;MQRankSum=-3.883;QD=0.98;ReadPosRankSum=-1.757;SOR=4.531	GT:AD:DP:GQ:PL	0/1:33,7:40:98:98,0,936	7	0	3	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	21749.2	34	chr2	108259015	.	G	*	21749.2	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.702;DP=1615;ExcessHet=0.3701;FS=0.589;InbreedingCoeff=0.1667;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.809;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,97:218:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:7271,3534,4831:108259008	7	1	2	0
chr2	111123978	111123978	C	T	exonic	BCL2L11	.	nonsynonymous SNV	BCL2L11:NM_001204108:exon2:c.C233T:p.P78L,BCL2L11:NM_001204109:exon2:c.C233T:p.P78L,BCL2L11:NM_138621:exon2:c.C233T:p.P78L,BCL2L11:NM_138622:exon2:c.C233T:p.P78L,BCL2L11:NM_138624:exon2:c.C233T:p.P78L,BCL2L11:NM_138626:exon2:c.C233T:p.P78L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0563606058769	7.7e-05	.	2.474e-05	0	0	0	0.0003	1.5e-05	0	0	1.94e-05	3	154602	rs142670904	4.788e-06	4.788e-06	0	9.625e-06	3.597e-06	1.99e-06	1.28e-06	8.4e-07	5.7e-07	0	0	0	0	5.616e-05	0	3.597e-06	0	0	1.971e-05	1.97e-05	0	4.034e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.416e-05	0	2.939e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000009	0.62929	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.9	0.45248	T	-2.8	0.62343	D	0.913	0.95491	-0.7991	0.55197	T	0.180	0.52660	T	10	0.58325654	0.65968	D	0.056361	0.66577	D	0.273	0.58883	.	.	0.650668676097	0.64777	0.25335102286974975	0.25249	0.320073867842	0.34217	0.804417014122	0.82636	D	0.790837	0.94565	D	0.215734	0.75372	D	0.0721112	0.75051	D	0.947399437427521	0.62672	D	0.933007	0.74900	D	0.4390729	0.63343	0.41337234	0.65512	0.4390729	0.63343	0.41337234	0.65512	-4.933	0.38563	T	.	.	0.864	0.80557	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.579520	0.92288	32	0.99893667187520097	0.96742	0.83300	0.42428	D	AEFDBCI	0.598969	0.59216	D	0.637230206609972	0.75545	6.325	0.669307340936206	0.80053	7.214746	0.999999999997519	0.74766	0.489673	0.17934	0	0.296712	0.05252	1	0.759307	0.98198	0	0.508809	0.08732	0	.	.	5.5	5.5	0.81386	5.138000	0.64636	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.253	0.86933	783	0.47268	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	898.43	38	chr2	111123978	.	C	T	898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=404;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.06;SOR=1.093	GT:AD:DP:GQ:PL	0/1:49,36:85:99:910,0,1232	9	0	1	0
chr2	112310036	112310036	C	A	exonic	ZC3H6	.	nonsynonymous SNV	ZC3H6:NM_198581:exon4:c.C488A:p.T163K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00290058340544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.08335	T	0.184	0.29056	T	0.017	0.17573	B	0.007	0.12992	B	0.116614	0.19186	N	0.548659	0.998666	0.22000	N	2.125	0.59049	M	2.62	0.12988	T	0.12	0.05604	N	0.221	0.24883	-0.9555	0.40006	T	0.018	0.07612	T	10	0.058749825	0.06956	T	0.002901	0.06133	T	0.056	0.15993	0.223	0.14665	0.082315109003	0.07666	0.3068796672962141	0.30600	0.196392658314	0.21999	0.36840698123	0.20603	T	0.015209	0.12804	T	-0.236096	0.15851	T	-0.576912	0.14822	T	0.1572983572367	0.17670	T	0.269473	0.04507	T	0.052130442	0.09678	0.041468583	0.04721	0.052130442	0.09678	0.041468583	0.04721	-3.47	0.16014	T	.	.	0.115	0.25100	B	.;.	.;.	1.636592	0.20893	14.96	0.7467636976183204	0.10784	0.73766	0.36081	D	AEFGBI	0.185668	0.31299	N	-0.340885213835029	0.27609	1.516126	-0.139345434052642	0.33820	1.938733	4.12359494245463E-4	0.06899	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	5.86	3.98	0.45383	3.037000	0.49465	0.682000	0.20689	0.599000	0.40250	1.000000	0.71638	0.461000	0.25002	0.989000	0.64315	0.2632:0.5322:0.1194:0.0852	3.980	0.08983	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2051.43	34	chr2	112310036	.	C	A	2051.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.871;DP=476;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.551;SOR=0.795	GT:AD:DP:GQ:PL	0/1:74,86:160:99:2063,0,1795	9	0	1	0
chr2	112756185	112756185	T	C	exonic	CKAP2L	.	nonsynonymous SNV	CKAP2L:NM_001304361:exon4:c.A691G:p.I231V,CKAP2L:NM_152515:exon4:c.A1186G:p.I396V	Filippi syndrome, Autosomal recessive	427	1094	1	0	0	1	0.00045683	.	.	.	1917615	not_provided|Filippi_syndrome	MedGen:C3661900|MONDO:MONDO:0010092,MedGen:C0795940,OMIM:272440,Orphanet:3255	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00254126963723	.	.	1.648e-05	0	0	0	0	0	0.0011	6.058e-05	1.94e-05	3	154602	rs772245567	2.189e-05	2.189e-05	1.633e-05	2.75e-05	0.0014	1.584e-05	1.356e-05	0.0007	0.0005	5.974e-05	0	0	0	0	0.0014	1.529e-05	3.312e-05	3.478e-05	2.626e-05	2.625e-05	1.285e-05	4.026e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0102	1.47e-05	0	0	0.089	0.32141	T	0.809	0.03956	T	0.206	0.29860	B	0.124	0.32546	B	0.103341	0.19752	N	0.442996	1	0.08975	N	1.7	0.43825	L	3.52	0.04905	T	0.17	0.05125	N	0.081	0.05670	-0.9560	0.39916	T	0.021	0.08917	T	10	0.052253515	0.05230	T	0.002541	0.05093	T	0.019	0.03383	.	.	0.258283824007	0.25425	0.05353273442369997	0.05295	0.0583122551693	0.06459	0.338102161884	0.16153	T	0.004294	0.03699	T	-0.382365	0.03011	T	-0.690163	0.06380	T	0.0434685660548894	0.04324	T	0.673133	0.28166	T	0.025402235	0.01474	0.03389587	0.02361	0.025402235	0.01474	0.03389587	0.02361	-2.967	0.09830	T	0.2668696599062325	0.35961	0.085	0.09965	B	.	.	0.214695	0.05978	2.418	0.31100447263994324	0.01735	0.06406	0.12409	N	AEFBI	.	.	.	-0.91320666808035	0.10533	0.5037551	-0.977881493754919	0.10282	0.5168929	0.999606283839007	0.40866	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.69	0.704	0.17280	0.027000	0.13512	-2.271000	0.03969	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.808000	0.38083	0.3682:0.0:0.1655:0.4662	4.739	0.12378	614	0.66605	.	.	.	.	.	.	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	0.004028	0.005051	0.005435	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2260.43	58	chr2	112756185	.	T	C	2260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.201;DP=689;ExcessHet=0;FS=1.179;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.07;SOR=0.815	GT:AD:DP:GQ:PL	0/1:86,92:178:99:2272,0,2184	9	0	1	0
chr2	113062547	113062547	C	T	exonic	IL36RN	.	nonsynonymous SNV	IL36RN:NM_012275:exon5:c.C338T:p.S113L,IL36RN:NM_173170:exon5:c.C338T:p.S113L	Psoriasis 14, pustular, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	39447	not_provided|IL36RN-related_disorder|Autoinflammatory_syndrome|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.319	0.0846426936406	0.0023	0.00159744	0.0031	0.0008	0.0002	0	0.0065	0.0047	0.0022	0.0004	0.0029948	463	154602	rs144478519	0.0034	0.0034	0.0035	0.0034	0.0039	0.0034	0.0033	0.0038	0.0038	0.0004	0.0008	0.0001	2.519e-05	0.0065	0.0005	0.0039	0.0036	0.0005	0.0026	0.0026	0.0026	0.0026	0.0036	0.0024	0.0023	0.0033	0.0031	0.0007	0	0.0029	0	0	0.0062	0	0.0036	0.0019	0.0006	0.001	0.78490	D	0.003	0.76473	D	0.991	0.64070	D	0.421	0.45113	B	0.000000	0.84330	D	0.000000	0.617446	0.32675	D	3.295	0.90403	M	1.42	0.33189	T	-5.37	0.84882	D	0.886	0.88466	-0.6740	0.61647	T	0.104	0.38094	T	10	0.017353624	0.00370	T	0.084643	0.74368	D	0.319	0.64112	.	.	0.511561629741	0.50796	0.8982308985492573	0.89794	0.409613746433	0.41775	0.466264903545	0.34169	T	0.449517	0.79098	T	-0.0979121	0.36770	T	0.0868461	0.76035	D	0.100279739292853	0.12389	T	0.873413	0.58193	D	0.7078348	0.78488	0.650208	0.79535	0.7406224	0.80329	0.6598742	0.80075	-8.592	0.65036	D	0.5469790144303053	0.61598	0.399	0.63371	A	.;.;.	.;.;.	3.362082	0.46425	22.3	0.99876452885678191	0.95328	0.83664	0.42766	D	AEFDBI	0.112835	0.22288	N	0.294002387243119	0.55844	3.748519	0.22246307724421	0.51096	3.295169	0.120362465085024	0.16866	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.1	4.21	0.48984	2.785000	0.47470	3.300000	0.37375	0.599000	0.40250	0.984000	0.35821	0.998000	0.33993	0.242000	0.23054	0.0:0.9061:0.0:0.0939	10.219	0.42361	403	0.82567	Interleukin-1 conserved site;Interleukin-1 conserved site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1907.43	34	chr2	113062547	.	C	T	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.399;DP=433;ExcessHet=0;FS=3.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=1.53;SOR=0.661	GT:AD:DP:GQ:PL	0/1:43,75:118:99:1919,0,897	9	0	1	0
chr2	113454746	113454746	A	T	exonic	CBWD2	.	nonsynonymous SNV	CBWD2:NM_001330336:exon6:c.A496T:p.I166L,CBWD2:NM_001330337:exon6:c.A496T:p.I166L,CBWD2:NM_172003:exon6:c.A496T:p.I166L,CBWD2:NM_001330339:exon7:c.A388T:p.I130L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0179732905427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.43085	D	0.207	0.37872	T	0.001	0.07471	B	0.019	0.18783	B	0.000667	0.42516	D	0.234322	0.965917	0.25917	N	1.325	0.33218	L	0.67	0.52187	T	-1.81	0.42575	N	0.464	0.50056	-1.0270	0.21429	T	0.080	0.31615	T	10	0.16765088	0.31271	T	0.017973	0.39871	T	0.065	0.18881	0.653	0.79068	0.128874641272	0.12493	0.10575840488234951	0.10505	.	.	0.590216994286	0.51524	T	0.038017	0.28396	T	-0.129247	0.31618	T	-0.423431	0.30682	T	0.374450027942657	0.27969	T	0.969436	0.89015	D	0.10928656	0.25837	0.12424514	0.29949	0.10928656	0.25837	0.12424514	0.29948	-7.237	0.55746	T	.	.	0.206	0.47697	B	.;.;.	.;.;.	2.060208	0.26197	17.03	0.93142636337625928	0.22786	0.73511	0.35958	D	AEFI	0.312866	0.41818	N	-0.471029028635038	0.23033	1.234081	-0.404077203314149	0.24876	1.364796	3.68239046605378E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.85	1.0	0.18999	1.992000	0.40357	0.606000	0.19981	0.347000	0.19874	1.000000	0.71638	0.005000	0.19230	0.936000	0.47498	0.5626:0.0:0.4374:0.0	4.497	0.11255	768	0.49510	CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-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	.	.	.	.	.	.	.	.	0.05	448.43	34	chr2	113454746	.	A	T	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.095;DP=370;ExcessHet=0;FS=0.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.16;MQRankSum=1.5;QD=6.69;ReadPosRankSum=0.111;SOR=0.569	GT:AD:DP:GQ:PL	0/1:43,24:67:99:460,0,963	9	0	1	0
chr2	119158166	119158166	G	C	exonic	C1QL2	.	nonsynonymous SNV	C1QL2:NM_182528:exon1:c.C104G:p.P35R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.980819788608	.	.	0.0003	0	0	0	0	0	0	0.0013	8.41e-05	13	154602	rs746290387	5.263e-05	5.541e-05	2.509e-05	8.053e-05	0.0008	4.299e-05	3.922e-05	0.0006	0.0006	0	0	0	0	0	0	5.469e-06	8.508e-05	0.0008	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.992	0.64738	D	0.879	0.62418	P	0.000588	0.43095	D	0.155014	0.999731	0.48635	D	2.36	0.67893	M	-1.4	0.80474	T	-4.45	0.77717	D	0.622	0.63713	-0.3678	0.73028	T	0.418	0.76401	T	9	0.72802997	0.74106	D	0.98082	0.99900	D	0.563	0.82118	0.621	0.75576	0.925652262934	0.92489	0.5671637587796198	0.56644	2.0017420917	0.93834	0.915868759155	0.97993	D	0.152097	0.49233	T	-0.195274	0.21487	T	-0.140003	0.60118	T	0.588826298713684	0.35960	D	0.862114	0.55677	D	0.37102798	0.58661	0.61095595	0.77368	0.37102798	0.58661	0.61095595	0.77369	-5.947	0.45833	T	.	.	0.398	0.59443	A	.	.	4.915093	0.80898	27.4	0.99722081919330785	0.82125	0.96529	0.69595	D	AEFDBCI	0.812446	0.73518	D	0.358121217285153	0.59170	4.094201	0.348474928832118	0.58415	4.011925	0.999999938809581	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	4.23	3.33	0.37245	6.464000	0.73449	9.591000	0.81047	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:0.8103:0.1897	10.903	0.46272	941	0.13089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	499.43	35	chr2	119158166	.	G	C	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.506;DP=382;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-0.778;SOR=0.549	GT:AD:DP:GQ:PL	0/1:30,25:55:99:511,0,686	9	0	1	0
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	0.1	2758.14	33	chr2	134987734	.	A	G	2758.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.86;DP=870;ExcessHet=0.2348;FS=0.475;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.964;SOR=0.654	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1672,0,1680	8	0	2	0
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	.	.	.	.	.	.	.	.	0.3889	547.15	205	chr2	157321525	.	C	G	547.15	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-3.715;DP=1784;ExcessHet=7.0302;FS=288.634;InbreedingCoeff=-0.5861;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.55;SOR=12.262	GT:AD:DP:GQ:PL	0/1:114,45:159:99:147,0,2070	2	0	7	1
chr2	157738441	157738441	G	A	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon10:c.C1394T:p.P465L,ACVR1:NM_001111067:exon10:c.C1394T:p.P465L,ACVR1:NM_001347663:exon10:c.C1394T:p.P465L,ACVR1:NM_001347664:exon11:c.C1394T:p.P465L,ACVR1:NM_001347665:exon11:c.C1394T:p.P465L,ACVR1:NM_001347666:exon11:c.C1394T:p.P465L,ACVR1:NM_001347667:exon11:c.C1394T:p.P465L	Fibrodysplasia ossificans progressiva, Autosomal dominant	0	1521	1	0	0	1	0.000328623	0.9912	0.87	.	1873642	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0539651946211	.	.	5.766e-05	0	8.637e-05	0	0	2.997e-05	0	0.0002	5.82e-05	9	154602	rs750457181	4.926e-05	4.925e-05	4.492e-05	5.363e-05	0.0003	3.993e-05	3.669e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	3.597e-05	0.0001	0.0003	1.314e-05	1.313e-05	0	2.691e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.012	0.54683	D	0.031	0.53788	D	0.995	0.67487	D	0.894	0.63417	P	0.000000	0.84330	D	0.048254	1	0.81001	D	2.02	0.55341	M	-0.12	0.64630	T	-6.62	0.92128	D	0.51	0.54496	-0.2413	0.76592	T	0.398	0.75009	T	10	0.5877458	0.66207	D	0.053965	0.65674	D	0.362	0.68230	0.567	0.68901	0.701433802764	0.69885	0.7208376655860169	0.72026	0.84883214251	0.68431	0.882464289665	0.94290	D	0.533794	0.83913	D	-0.230086	0.16639	T	-0.257761	0.49048	T	0.623288035392761	0.37341	D	0.893711	0.63166	D	0.68149126	0.77049	0.5452781	0.73715	0.68149126	0.77051	0.5452781	0.73716	-6.621	0.51214	T	.	.	0.103	0.18497	B	.;.;.;.	.;.;.;.	6.085469	0.94525	34	0.998616853418682	0.94002	0.98708	0.85845	D	AEFBI	0.792661	0.72089	D	0.756294839673936	0.83315	7.985237	0.751296779354879	0.86255	8.830742	0.999999985358002	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	6.870000	0.75324	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.608000	0.31589	0.0:0.0:1.0:0.0	19.568	0.95396	818	0.41518	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	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	1890.43	34	chr2	157738441	.	G	A	1890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.139;SOR=0.651	GT:AD:DP:GQ:PL	0/1:82,80:162:99:1902,0,1817	9	0	1	0
chr2	158102044	158102044	C	T	exonic	UPP2	.	nonsynonymous SNV	UPP2:NM_001135098:exon3:c.C152T:p.T51I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00379344630433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.41074	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.38	0.34050	T	.	.	.	0.075	0.04913	-0.9905	0.32475	T	0.082	0.32382	T	6	0.11513704	0.21683	T	0.003793	0.08837	T	.	.	.	.	0.225215365344	0.22153	0.21511727426719987	0.21427	0.520712648786	0.49863	0.407165497541	0.26065	T	.	.	.	-0.357459	0.04275	T	-0.751241	0.03437	T	0.152441397309303	0.17297	T	0.256074	0.03980	T	.	.	.	.	.	.	.	.	-3.911	0.22467	T	.	.	0.136	0.29642	B	.	.	0.208894	0.05926	2.367	0.99033392536117393	0.50851	0.01095	0.04025	N	AEFBI	0.048459	0.08272	N	-0.549871935748009	0.20488	1.080385	-0.724584000477127	0.16349	0.8644707	0.017029082365554	0.12903	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.32	-0.403	0.11782	-0.062000	0.11631	.	.	0.599000	0.40250	0.169000	0.23921	0.347000	0.24452	0.006000	0.07323	0.0:0.3831:0.0:0.6169	6.249	0.20045	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1036.43	34	chr2	158102044	.	C	T	1036.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.339;DP=536;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.594;SOR=0.606	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1048,0,1624	9	0	1	0
chr2	160137782	160137782	C	T	exonic	ITGB6	.	nonsynonymous SNV	ITGB6:NM_001282354:exon8:c.G1027A:p.V343M,ITGB6:NM_001282388:exon9:c.G1186A:p.V396M,ITGB6:NM_001282390:exon9:c.G898A:p.V300M,ITGB6:NM_000888:exon10:c.G1312A:p.V438M,ITGB6:NM_001282355:exon10:c.G1312A:p.V438M,ITGB6:NM_001282389:exon10:c.G1093A:p.V365M,ITGB6:NM_001282353:exon11:c.G1312A:p.V438M	Amelogenesis imperfecta, type IH, Autosomal recessive	427	1025	62	8	0	78	0.0366541	.	.	.	707793	not_provided|Amelogenesis_imperfecta_type_1H	MedGen:C3661900|MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.509	.	0.0043	0.00658946	0.0089	0.0014	0.0035	0.0001	0.0012	0.0079	0.0166	0.0287	0.0082793	1280	154602	rs61737764	0.0059	0.0059	0.0051	0.0068	0.0286	0.0058	0.0058	0.0276	0.0273	0.0011	0.0030	0.0084	0.0001	0.0015	0.0277	0.0046	0.0070	0.0286	0.0043	0.0043	0.0039	0.0047	0.0249	0.0040	0.0039	0.0213	0.0199	0.0008	0.0033	0.0032	0.0066	0.0006	0.0012	0.0238	0.0057	0.0071	0.0249	0.003	0.68238	D	0.011	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.345	0.91022	M	-0.45	0.69896	T	-1.8	0.45042	N	0.297	0.34228	0.169	0.85386	D	0.481	0.80170	T	10	0.012100965	0.00261	T	.	.	.	0.509	0.78910	.	.	0.697297187285	0.69468	0.6160951086029223	0.61541	0.0810200920857	0.09117	0.485046923161	0.36752	T	0.771974	0.93904	D	-0.196078	0.21371	T	-0.0327995	0.68183	D	0.0909153406964552	0.11326	T	0.910609	0.69499	D	0.5046076	0.67364	0.3403883	0.59791	0.44955823	0.64013	0.3403883	0.59791	-6.427	0.49884	T	0.7321340703552297	0.81385	0.195	0.41541	B	.;.;.;.;.	.;.;.;.;.	4.120538	0.61586	24.4	0.99910961825783051	0.98022	0.97108	0.72736	D	AEFBI	0.604412	0.59552	D	0.80083389169006	0.86157	8.796558	0.733918385953222	0.84951	8.437762	0.999999989802394	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	3.374000	0.52132	4.071000	0.41665	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	19.113	0.93310	419	0.81524	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;.;Integrin beta subunit, VWA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.000000	0.023098	0.014620	0.000000	0.043103	0.036585	0.018939	0.1	3041.14	125	chr2	160137782	.	C	T	3041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.79;DP=513;ExcessHet=0.2348;FS=3.915;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.834;SOR=0.961	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1422,0,1272	8	0	2	0
chr2	164694732	164694732	C	A	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon11:c.G2660T:p.S887I,COBLL1:NM_001278460:exon12:c.G2798T:p.S933I,COBLL1:NM_001365670:exon12:c.G2795T:p.S932I,COBLL1:NM_001365672:exon12:c.G2660T:p.S887I,COBLL1:NM_001365673:exon12:c.G2660T:p.S887I,COBLL1:NM_014900:exon12:c.G2774T:p.S925I,COBLL1:NM_001365671:exon13:c.G2837T:p.S946I,COBLL1:NM_001365674:exon13:c.G2699T:p.S900I,COBLL1:NM_001365675:exon13:c.G2699T:p.S900I,COBLL1:NM_001278458:exon15:c.G2975T:p.S992I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0383733491098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.041	0.56192	D	1.0	0.90584	D	0.999	0.92359	D	0.000043	0.53742	D	0.131433	0.95664	0.37984	D	2.545	0.74286	M	.	.	.	-3.89	0.72820	D	0.611	0.69125	-0.4747	0.69559	T	0.296	0.66707	T	9	0.6261566	0.68254	D	0.038373	0.58186	D	0.186	0.46104	0.405	0.43738	0.565281569661	0.56191	0.5228720770325227	0.52210	0.333430648121	0.35378	0.453344196081	0.32400	T	0.184905	0.63350	T	-0.0146784	0.49608	T	-0.258861	0.48938	T	0.990578591823578	0.80798	D	0.868613	0.59013	D	0.34722766	0.56851	0.24606119	0.50108	0.34722766	0.56851	0.24606119	0.50107	-5.28	0.39744	T	.	.	0.284	0.51643	B	.;.;.;.	.;.;.;.	3.351684	0.46229	22.3	0.99327446288827126	0.59622	0.81480	0.40875	D	AEFBCI	0.418873	0.48633	N	0.0672263424651094	0.44937	2.75892	-0.0203853309440235	0.38795	2.290811	0.999999033930781	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	6.03	3.31	0.37025	1.919000	0.39646	0.373000	0.17698	-0.176000	0.10722	0.988000	0.36536	0.033000	0.21346	0.733000	0.35199	0.0:0.8043:0.0:0.1957	11.264	0.48329	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	.	.	.	.	.	.	.	.	0.05	668.43	55	chr2	164694732	.	C	A	668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.131;DP=454;ExcessHet=0;FS=2.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.155;SOR=1.073	GT:AD:DP:GQ:PL	0/1:26,24:50:99:680,0,714	9	0	1	0
chr2	166251792	166251792	C	T	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon18:c.G3445A:p.D1149N,SCN9A:NM_002977:exon18:c.G3412A:p.D1138N	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	930956	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.297	0.0272266439041	.	0.000399361	3.335e-05	0.0001	0	0.0001	0	0	0	0.0001	3.88e-05	6	154602	rs199859971	3.56e-05	3.557e-05	3.27e-05	3.854e-05	8.979e-05	2.765e-05	2.504e-05	2.996e-05	2.226e-05	8.979e-05	0	0	2.521e-05	0	0	3.42e-05	6.635e-05	6.959e-05	1.972e-05	2.625e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	2.407e-05	0	0	0	0.0002	0	0	1.471e-05	0	0	0.131	0.26740	T	0.413	0.14544	T	.	.	.	.	.	.	0.000006	0.62929	D	0.000000	0.99678	0.22906	N	0.585	0.15399	N	-1.74	0.83413	D	0.2	0.04861	N	0.317	0.35727	-0.8105	0.54520	T	0.300	0.67157	T	10	0.084877014	0.14270	T	0.027227	0.50063	D	0.297	0.61730	.	.	0.634123272708	0.63112	0.18469825721775032	0.18387	0.172492847647	0.19426	0.406582653522	0.25983	T	0.170654	0.51847	T	-0.255845	0.13391	T	-0.368611	0.37051	T	0.102912839707925	0.12675	T	0.878912	0.59551	D	0.14846732	0.33894	0.12873968	0.30967	0.14846732	0.33894	0.12873968	0.30967	-3.187	0.12322	T	0.10196861541629304	0.07697	0.079	0.12228	B	.;.;.;.;.;.	.;.;.;.;.;.	3.884380	0.56480	23.7	0.99692947432023371	0.80044	0.15095	0.18742	N	AEFGI	0.129722	0.24801	N	-0.321962232266103	0.28315	1.560783	-0.163399286318726	0.32895	1.876138	0.97154405565473	0.29296	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.82	5.82	0.92740	-0.005000	0.12791	4.874000	0.45597	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.952000	0.50033	0.2721:0.7279:0.0:0.0	13.273	0.59602	301	0.87912	.;Sodium ion transport-associated;.;Sodium ion transport-associated;Sodium ion transport-associated;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1298.43	35	chr2	166251792	.	C	T	1298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.531;DP=439;ExcessHet=0;FS=2.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.737;SOR=0.899	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1310,0,1444	9	0	1	0
chr2	166409792	166409792	C	A	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon25:c.G3855T:p.W1285C	.	440	1076	6	0	0	6	0.00278035	.	.	.	746905	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.581	0.125188221512	.	0.00119808	0.0017	0	0.0012	0	0	0.0005	0.0034	0.0049	0.0005886	91	154602	rs199934497	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0004	0.0042	0.0040	3.061e-05	0.0004	0.0003	7.899e-05	0	0.0041	0.0001	0.0005	0.0046	0.0003	0.0003	0.0002	0.0004	0.0033	0.0002	0.0002	0.0021	0.0017	2.41e-05	0	0.0004	0.0006	0	0	0	0.0002	0.0014	0.0033	0.014	0.53172	D	0.177	0.29740	T	0.279	0.32056	B	0.127	0.32738	B	0.000039	0.55875	D	0.078649	0.999998	0.58761	D	2.505	0.72935	M	-4.91	0.98352	D	-4.29	0.76414	D	0.719	0.72120	0.855	0.95094	D	0.899	0.96665	D	10	0.012905896	0.00275	T	0.125188	0.80666	D	0.581	0.83137	0.565	0.68633	0.94355712992	0.94297	0.4007416197815732	0.39989	0.18551684636	0.20855	0.382662415504	0.22634	T	0.738461	0.92736	D	-0.0258252	0.48019	T	0.189983	0.82569	D	0.0980274052913696	0.12139	T	0.125387	0.00975	T	0.31031883	0.53814	0.37287125	0.62486	0.31031883	0.53814	0.37287125	0.62486	-6.695	0.51773	T	.	.	0.405	0.60019	A	.;.;.;.;.	.;.;.;.;.	3.351739	0.46229	22.3	0.98011830748874385	0.37559	0.75066	0.36738	D	AEFBI	0.637665	0.61636	D	-0.0411488673502757	0.39999	2.36801	0.0424827174169433	0.41710	2.510435	0.999995566304007	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	1.176000	0.31566	4.002000	0.41083	0.599000	0.40250	0.500000	0.26956	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	17.023	0.86312	632	0.64850	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005045	0.000000	0.001362	0.000000	0.050000	0.017544	0.006098	0.015152	0.05	1539.43	33	chr2	166409792	.	C	A	1539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.732;DP=439;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.124;SOR=0.824	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1551,0,1296	9	0	1	0
chr2	169083565	169083565	G	A	exonic	DHRS9	.	nonsynonymous SNV	DHRS9:NM_001142271:exon3:c.G550A:p.E184K,DHRS9:NM_001289763:exon3:c.G730A:p.E244K,DHRS9:NM_001376924:exon3:c.G550A:p.E184K,DHRS9:NM_001142270:exon4:c.G550A:p.E184K,DHRS9:NM_199204:exon4:c.G550A:p.E184K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.792	0.111063887881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.018	0.63918	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.96	0.53105	M	-2.26	0.93587	D	-3.95	0.73477	D	0.933	0.94904	0.956	0.96486	D	0.905	0.96859	D	10	0.90157986	0.89520	D	0.111064	0.78870	D	0.792	0.93148	0.707	0.84327	0.995605955077	0.99555	0.9547783327535269	0.95462	.	.	0.608030557632	0.54037	T	0.633414	0.88667	D	0.483631	0.93822	D	0.456926	0.93744	D	0.99544095993042	0.87437	D	0.985901	0.97969	D	0.9368786	0.94930	0.90053695	0.95014	0.9368786	0.94930	0.90053695	0.95015	-7.876	0.60222	D	.	.	0.340	0.64169	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.382617	0.90202	31	0.99933561538896565	0.99488	0.99401	0.95555	D	AEFDBI	0.940974	0.94364	D	1.01171894195894	0.96094	14.29441	1.00182676140431	0.98663	18.954	1.0	0.98316	0.553676	0.25195	0	0.480063	0.06835	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.17	6.17	0.99707	9.850000	0.98378	11.815000	0.97057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.474	0.99171	838	0.37812	.;.;.;.;.;.;.	.	.	.	.	.	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	830.43	34	chr2	169083565	.	G	A	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.279;DP=384;ExcessHet=0;FS=1.003;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.262;SOR=0.896	GT:AD:DP:GQ:PL	0/1:41,32:73:99:842,0,1114	9	0	1	0
chr2	177392824	177392824	G	A	exonic	AGPS	.	nonsynonymous SNV	AGPS:NM_003659:exon1:c.G35A:p.G12D	Rhizomelic chondrodysplasia punctata, type 3, Autosomal recessive	5	1503	14	0	0	14	0.00463576	.	.	.	283016	Rhizomelic_chondrodysplasia_punctata_type_3|not_provided|not_specified	MONDO:MONDO:0010823,MedGen:C1838612,OMIM:600121,Orphanet:177,Orphanet:309803|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.347	.	.	0.00179712	0.0033	0.0014	0	0	0	0.0006	0.0231	0.0101	0.0006145	95	154602	rs557931141	0.0004	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	0	2.685e-05	0	0	0	0.0033	7.817e-05	0.0004	0.0048	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	0.0001	0	0.0052	0.311	0.91255	T	0.328	0.92824	T	0.028	0.19712	B	0.014	0.16862	B	0.928840	0.08435	N	0.952047	1	0.08975	N	1.39	0.34934	L	-4.33	0.97242	D	-0.28	0.11547	N	0.231	0.49420	-0.1427	0.79098	T	0.691	0.89320	D	10	0.0024509132	0.00037	T	.	.	.	0.347	0.66863	0.137	0.04097	0.695051798009	0.69242	0.4928378777701159	0.49204	1.13182881376	0.78647	0.797494888306	0.81582	T	0.195191	0.55120	T	-0.0811046	0.39535	T	0.112227	0.77721	D	0.0398290548181467	0.03660	T	0.343166	0.07474	T	0.0382736	0.05067	0.07876995	0.17672	0.05183874	0.09578	0.07722978	0.17182	-5.151	0.38439	T	.	.	0.133	0.32517	B	.;.	.;.	0.741857	0.11111	7.759	0.86008420692730092	0.16253	0.11042	0.16368	N	ALL	0.042326	0.06554	N	-1.36297270356734	0.02993	0.1329961	-1.38764558223396	0.03383	0.1576814	0.999999999999644	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.18	-0.0214	0.13277	0.874000	0.27715	0.191000	0.15744	0.248000	0.18312	0.054000	0.21560	0.006000	0.19429	0.201000	0.21925	0.0:0.5195:0.3045:0.176	7.662	0.27577	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001574	0.000000	0.000000	0.000000	0.000000	0.000000	0.003311	0.007692	0.1	686.12	34	chr2	177392824	.	G	A	686.12	.	AC=2;AF=0.1;AN=20;DP=289;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=26.39;SOR=1.445	GT:AD:DP:GQ:PL	1/1:0,26:26:77:709,77,0	9	1	0	0
chr2	178576568	178576568	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon153:c.A42481G:p.S14161G,TTN:NM_133432:exon154:c.A42856G:p.S14286G,TTN:NM_133437:exon154:c.A43057G:p.S14353G,TTN:NM_133378:exon274:c.A61972G:p.S20658G,TTN:NM_001256850:exon275:c.A64753G:p.S21585G,TTN:NM_001267550:exon325:c.A69676G:p.S23226G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1468	51	3	0	57	0.0190444	.	.	.	56440	Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Hypertrophic_cardiomyopathy|Ventricular_tachycardia|Familial_dilated_cardiomyopathy_and_peripheral_neuropathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_specified|TTN-related_disorder|Cardiovascular_phenotype|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.566	.	0.0066	0.00299521	0.0075	0.0014	0.0047	0	0.0018	0.0095	0.0111	0.0110	0.0073091	1130	154602	rs72646885	0.0072	0.0072	0.0069	0.0075	0.0170	0.0070	0.0070	0.0143	0.0133	0.0015	0.0048	0.0314	0	0.0029	0.0170	0.0068	0.0092	0.0116	0.0057	0.0057	0.0061	0.0054	0.0087	0.0054	0.0053	0.0074	0.0072	0.0013	0	0.0044	0.0331	0	0.0021	0.0306	0.0080	0.0095	0.0087	0.008	0.91255	D	.	.	.	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.999978	0.58761	D	3.555	0.93317	H	-0.51	0.70597	T	-2.99	0.64710	D	0.441	0.67650	0.109	0.84332	D	0.478	0.80037	T	9	0.004576355	0.00095	T	.	.	.	0.566	0.82289	.	.	0.376039117802	0.37211	.	.	0.443632335628	0.44285	0.520653069019	0.41718	T	.	.	.	-0.274401	0.11271	T	-0.156547	0.58661	T	0.0732738689586987	0.09103	T	0.791621	0.43272	T	.	.	.	.	.	.	.	.	-10.119	0.74621	D	.	.	0.368	0.57720	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.495148	0.70253	25.5	0.83750850580813474	0.14899	0.97136	0.72900	D	AEFBI	0.888384	0.82145	D	0.649867181465855	0.76361	6.472145	0.554012187497778	0.71676	5.691424	0.99518412355579	0.33994	0.553676	0.25195	0	0.601575	0.49859	0	0.463624	0.06942	0	0.620846	0.47308	0	.	.	5.72	4.57	0.55860	7.969000	0.87564	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0682:0.0:0.9317	11.877	0.51835	432	0.80690	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013595	0.005051	0.014946	0.017544	0.000000	0.025862	0.012195	0.011364	0.05	2113.43	113	chr2	178576568	.	T	C	2113.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.176;DP=783;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.319;SOR=0.74	GT:AD:DP:GQ:PL	0/1:115,93:208:99:2125,0,2795	9	0	1	0
chr2	178617362	178617362	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon82:c.G20528A:p.R6843H,TTN:NM_133432:exon83:c.G20903A:p.R6968H,TTN:NM_133437:exon83:c.G21104A:p.R7035H,TTN:NM_133378:exon203:c.G40019A:p.R13340H,TTN:NM_001256850:exon204:c.G42800A:p.R14267H,TTN:NM_001267550:exon254:c.G47723A:p.R15908H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1469	47	3	2	55	0.0177198	.	.	.	56180	Cardiomyopathy|not_specified|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Ventricular_tachycardia|TTN-related_disorder|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|.|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.368	.	0.0066	0.00299521	0.0113	0.0025	0.0103	0	0.0025	0.0146	0.0181	0.0142	0.0064359	995	154602	rs72677237	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0016	0.0051	0.0263	0	0.0027	0.0144	0.0062	0.0084	0.0110	0.0054	0.0054	0.0056	0.0051	0.0081	0.0051	0.0049	0.0070	0.0067	0.0014	0	0.0044	0.0274	0	0.0019	0.0306	0.0075	0.0090	0.0081	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.44	0.70756	M	0.48	0.55945	T	-3.24	0.67477	D	0.433	0.72388	-0.4221	0.71323	T	0.293	0.66422	T	9	0.008752823	0.00198	T	.	.	.	0.368	0.68757	.	.	0.426551566703	0.42274	.	.	0.515550123524	0.49465	0.441975414753	0.30847	T	.	.	.	-0.309716	0.07773	T	-0.208267	0.53860	T	0.0243475309348374	0.01188	T	0.923708	0.72722	D	.	.	.	.	.	.	.	.	-7.748	0.60380	D	.	.	0.275	0.50889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.806982	0.54888	23.5	0.95521441007536012	0.27141	0.98638	0.84997	D	AEFBI	0.928340	0.91241	D	0.892802544777714	0.91401	10.866	0.888614442682798	0.95058	13.27328	0.999999999999994	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.93	5.93	0.95888	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.351	0.98814	424	0.81215	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.016113	0.010101	0.016304	0.020468	0.000000	0.025862	0.015244	0.015152	0.05	1531.43	35	chr2	178617362	.	C	T	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=436;ExcessHet=0;FS=1.431;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.861;SOR=0.702	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1543,0,1240	9	0	1	0
chr2	178748464	178748464	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.A13936G:p.K4646E	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	5	1464	49	4	0	57	0.0190955	.	.	.	56928	not_specified|not_provided|TTN-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0065	0.00259585	0.0082	0.0013	0.0049	0	0.0024	0.0107	0.0122	0.0111	0.0076196	1178	154602	rs140909116	0.0069	0.0069	0.0066	0.0072	0.0163	0.0068	0.0067	0.0136	0.0127	0.0013	0.0050	0.0405	0	0.0032	0.0163	0.0062	0.0093	0.0119	0.0058	0.0058	0.0061	0.0055	0.0093	0.0055	0.0054	0.0072	0.0068	0.0013	0	0.0045	0.0427	0.0002	0.0026	0.0272	0.0075	0.0095	0.0093	0.0	0.91255	D	0.021	0.58089	D	0.002	0.09854	B	0.009	0.14300	B	.	.	.	.	1	0.26107	N	.	.	.	-0.17	0.65563	T	-1.23	0.31170	N	0.142	0.14196	-1.0076	0.27665	T	0.096	0.36185	T	9	0.0027041435	0.00042	T	.	.	.	0.041	0.10877	.	.	0.303123707472	0.29912	.	.	.	.	.	.	.	.	.	.	-0.478046	0.00759	T	-0.449068	0.27799	T	0.00851544510352112	0.00104	T	0.290171	0.05279	T	.	.	.	.	.	.	.	.	-3.478	0.16125	T	.	.	.	.	.	.	.	-0.557152	0.01693	0.122	0.55270828152291973	0.05307	0.06636	0.12653	N	AEBI	0.099856	0.20091	N	-1.21449534428944	0.04789	0.2168849	-1.26204783316918	0.04955	0.2349757	0.99500758879886	0.33904	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	-2.52	0.05978	-0.106000	0.10860	.	.	-0.692000	0.04118	0.036000	0.20778	0.000000	0.08366	0.026000	0.12556	0.0:0.3421:0.2383:0.4196	6.312	0.20378	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018630	0.010101	0.020380	0.017544	0.000000	0.025862	0.021341	0.015152	0.05	1437.43	33	chr2	178748464	.	T	C	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.948;DP=481;ExcessHet=0;FS=2.316;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.161;SOR=0.941	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1449,0,1538	9	0	1	0
chr2	185796083	185796083	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G8947A:p.G2983S	.	436	1070	16	0	0	16	0.00742115	.	.	.	707890	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.0145428648513	.	0.00179712	0.0032	0	0	0	0	0.0073	0.0051	0.0018	0.0008797	136	154602	rs142675481	0.0034	0.0032	0.0034	0.0034	0.0193	0.0033	0.0033	0.0163	0.0152	0.0009	0.0026	0.0144	0	0.0008	0.0193	0.0034	0.0037	0.0019	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0006	0	0.0028	0.0168	0	0.0006	0.0034	0.0036	0.0048	0.0025	0.841	0.02803	T	0.921	0.02864	T	.	.	.	.	.	.	0.956254	0.07688	N	1.019820	1	0.08975	N	1.35	0.33515	L	1.12	0.38718	T	-1.78	0.42001	N	0.118	0.10769	-1.0130	0.25975	T	0.046	0.19879	T	8	0.005519718	0.00122	T	0.014543	0.34724	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.07517808770623123	0.07453	.	.	0.248386114836	0.03599	T	0.052191	0.29091	T	-0.495159	0.00609	T	-0.484182	0.24004	T	0.00956093055494588	0.00124	T	0.570043	0.20293	T	0.030915478	0.02837	0.07118786	0.15215	0.030915478	0.02837	0.07118786	0.15214	-1.606	0.01996	T	.	.	0.088	0.11558	B	.	.	-0.145085	0.03381	0.606	0.40151901440451598	0.02816	0.02581	0.07133	N	AEFHCI	0.044896	0.07278	N	-1.45980862271822	0.02140	0.09420565	-1.52082405954698	0.02184	0.1000747	2.98581108424224E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	-1.84	0.07387	-0.054000	0.11783	1.375000	0.25987	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5665:0.0:0.4335:0.0	10.689	0.45058	756	0.51065	.	.	.	.	.	.	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	0.009259	0.015957	0.016129	0.023256	0.000000	0.000000	0.000000	0.000000	0.05	1444.43	115	chr2	185796083	.	G	A	1444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=876;ExcessHet=0;FS=2.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.771;SOR=0.765	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1456,0,1532	9	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1527.34	112	chr2	197523648	.	T	C	1527.34	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.265;DP=605;ExcessHet=4.5998;FS=381.692;InbreedingCoeff=-0.601;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.23;ReadPosRankSum=1.14;SOR=10.505	GT:AD:DP:GQ:PL	0/1:47,10:57:51:51,0,836	1	0	6	3
chr2	206305194	206305194	C	A	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C666A:p.N222K,ZDBF2:NM_001369654:exon6:c.C666A:p.N222K,ZDBF2:NM_001285549:exon7:c.C660A:p.N220K	.	432	1061	27	2	0	31	0.0143985	.	.	.	2109272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	0.0115230301471	0.0002	0.00159744	0.0017	0.0001	0.0022	0	0	0.0006	0.0034	0.0084	0.0014942	231	154602	rs200044367	0.0009	0.0009	0.0006	0.0012	0.0094	0.0009	0.0008	0.0088	0.0086	5.974e-05	0.0010	0.0013	5.038e-05	1.873e-05	0.0080	0.0003	0.0011	0.0094	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0004	0.0052	0.0045	2.405e-05	0	0.0010	0.0009	0.0002	0	0.0068	0.0004	0.0009	0.0070	0.023	0.48186	D	0.158	0.31629	T	0.447	0.36006	B	0.146	0.33945	B	0.027166	0.25800	N	0.188694	1	0.08975	N	1.75	0.45442	L	2.34	0.16351	T	-3.28	0.65627	D	0.327	0.37197	-1.0159	0.25045	T	0.029	0.12278	T	10	0.0061847568	0.00139	T	0.011523	0.29227	T	0.037	0.09474	0.177	0.08379	0.194818534648	0.19098	0.08912010333343588	0.08845	0.162359928004	0.18315	0.281682133675	0.07728	T	0.049049	0.39302	T	-0.6015	0.00143	T	-0.630675	0.10364	T	0.0336020536051496	0.02571	T	.	.	.	0.13841118	0.32012	0.12605263	0.30363	0.13841118	0.32012	0.12605263	0.30362	-2.662	0.06989	T	.	.	0.216	0.47816	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.613284	0.20610	14.83	0.99684880871400117	0.79507	0.42900	0.26980	N	AEFBI	0.062519	0.12022	N	-0.231030919698507	0.31868	1.791223	-0.199562780340314	0.31554	1.78676	0.00761789160899349	0.11507	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.11	2.23	0.27189	-0.024000	0.12382	0.521000	0.19165	0.599000	0.40250	0.004000	0.16614	0.805000	0.26985	0.961000	0.51904	0.308:0.3827:0.1422:0.167	1.398	0.02128	885	0.28214	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.05	1541.43	124	chr2	206305194	.	C	A	1541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.502;DP=818;ExcessHet=0;FS=8.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.028;SOR=0.908	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1553,0,1341	9	0	1	0
chr2	206542092	206542092	T	C	exonic	ADAM23	.	nonsynonymous SNV	ADAM23:NM_003812:exon5:c.T614C:p.V205A	.	439	1077	5	1	0	7	0.00323924	.	.	.	3641688	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.00564519781935	.	.	7.414e-05	0	0	0	0	2.997e-05	0	0.0004	7.12e-05	11	154602	rs769187767	5.472e-05	5.472e-05	3.811e-05	7.15e-05	0.0006	4.477e-05	4.147e-05	0.0005	0.0004	5.974e-05	0	0	0	1.872e-05	0.0005	1.259e-05	0.0001	0.0006	3.943e-05	3.94e-05	5.139e-05	2.691e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.507	0.07594	T	0.527	0.10245	T	0.051	0.22415	B	0.063	0.27082	B	0.057706	0.22459	N	0.312329	0.882309	0.35776	D	1.51	0.38214	L	3.4	0.05642	T	-0.9	0.24244	N	0.408	0.45047	-1.0633	0.10950	T	0.016	0.06521	T	10	0.14694801	0.27852	T	0.005645	0.14591	T	0.088	0.25558	0.601	0.73226	0.20808081866	0.20439	0.3541212147936274	0.35326	0.0948372849257	0.10714	0.316456347704	0.12884	T	0.095473	0.39629	T	-0.470915	0.00839	T	-0.564782	0.15930	T	0.0529268742437473	0.06006	T	0.438156	0.14308	T	0.07653712	0.17315	0.08046198	0.18204	0.07653712	0.17314	0.08046198	0.18204	-5.31	0.40042	T	.	.	0.131	0.35225	B	.;.	.;.	2.282063	0.29178	18.04	0.59376626001953192	0.06210	0.89331	0.49731	D	AEFI	0.232850	0.35587	N	-0.412301727591572	0.25037	1.356207	-0.279211108739866	0.28784	1.607574	0.64664137323112	0.22113	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	5.07	0.68106	3.626000	0.53985	6.224000	0.55156	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.066000	0.16387	0.0:0.0:0.0:1.0	14.494	0.67255	871	0.31377	Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.003049	0.003788	0.05	1168.43	38	chr2	206542092	.	T	C	1168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.933;DP=435;ExcessHet=0;FS=1.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.003;SOR=0.534	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1180,0,1607	9	0	1	0
chr2	216660575	216660575	C	T	exonic	IGFBP2	.	nonsynonymous SNV	IGFBP2:NM_000597:exon2:c.C461T:p.S154L,IGFBP2:NM_001313990:exon2:c.C29T:p.S10L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00630712612648	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348597652	6.864e-07	6.84e-07	1.365e-06	0	1.169e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.65419	T	0.154	0.74150	T	0.844	0.46645	P	0.313	0.41496	B	0.307563	0.03994	N	1.501450	0.762676	0.34057	D	1.995	0.54099	M	3.19	0.10101	T	-1.73	0.41046	N	0.14	0.23253	-1.0289	0.20811	T	0.044	0.18783	T	10	0.12660235	0.24070	T	0.006307	0.16580	T	0.137	0.36984	0.316	0.29258	0.27715347029	0.27323	0.7098709508097822	0.70929	0.859613321103	0.68898	0.482085138559	0.36344	T	0.392869	0.75242	T	-0.231091	0.16505	T	-0.469093	0.25613	T	0.403822946830037	0.29086	T	0.880112	0.61435	D	0.13487092	0.31320	0.089112476	0.20819	0.13487092	0.31319	0.089112476	0.20818	-3.043	0.10651	T	.	.	0.095	0.14933	B	.;.	.;.	2.541299	0.32871	19.17	0.99703214628364589	0.80798	0.84070	0.43155	D	AEFBI	0.875932	0.79964	D	0.0093951093071566	0.42280	2.544629	-0.0550547769495855	0.37272	2.180102	0.999970096340817	0.50053	0.719381	0.83141	0	0.659912	0.62753	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.56	4.56	0.55644	3.343000	0.51884	2.134000	0.30799	0.599000	0.40250	0.031000	0.20493	0.029000	0.21193	0.769000	0.36481	0.0:1.0:0.0:0.0	14.659	0.68458	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1042.43	33	chr2	216660575	.	C	T	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.678;DP=411;ExcessHet=0;FS=0.804;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.096;SOR=0.874	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1054,0,887	9	0	1	0
chr2	217848829	217848829	C	T	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.G1313A:p.R438Q,TNS1:NM_001308023:exon17:c.G1313A:p.R438Q,TNS1:NM_022648:exon17:c.G1313A:p.R438Q	.	429	1090	3	0	0	3	0.00137426	.	.	.	3192611	TNS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.120	.	.	0.00599042	0.0024	0	8.64e-05	0	0	1.5e-05	0	0.0177	0.0021539	333	154602	rs201977904	0.0010	0.0010	0.0006	0.0015	0.0163	0.0010	0.0010	0.0156	0.0153	0	2.236e-05	0	0.0005	0	0.0002	1.259e-05	0.0013	0.0163	0.0006	0.0006	0.0003	0.0009	0.0189	0.0005	0.0005	0.0158	0.0146	0	0	6.539e-05	0	0	0	0	0	0	0.0189	0.294	0.14793	T	0.472	0.16328	T	0.054	0.22658	B	0.012	0.16012	B	0.160188	0.17688	N	0.578096	0.999997	0.08975	N	0.55	0.14455	N	-2.76	0.93640	D	-0.91	0.24460	N	0.081	0.05799	-0.5491	0.66821	T	0.515	0.81830	D	10	0.002497375	0.00038	T	.	.	.	0.120	0.33359	0.196	0.10839	0.414451016677	0.41062	0.14559773216401092	0.14482	0.142267948534	0.16037	0.2768201828	0.07052	T	0.055341	0.29980	T	-0.423682	0.01621	T	-0.367086	0.37230	T	0.00631007743640769	0.00070	T	0.889011	0.61998	D	0.04587938	0.07584	0.040917877	0.04533	0.04587938	0.07584	0.040917877	0.04532	-2.115	0.03649	T	.	.	0.058	0.00806	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.737823	0.22111	15.49	0.9624506724817169	0.29163	0.06874	0.12899	N	AEFDBHCI	0.131798	0.25087	N	-1.14834566497881	0.05806	0.2656928	-1.08063500641469	0.08081	0.395836	0.99999436184851	0.74766	0.489673	0.17934	0	0.610034	0.51514	0	0.566861	0.19136	0	0.662433	0.64102	0	.	.	4.79	1.21	0.20240	-0.142000	0.10293	0.782000	0.21490	-0.313000	0.06017	0.000000	0.06391	0.308000	0.24257	0.975000	0.56047	0.0:0.5047:0.0:0.4953	8.807	0.34106	954	0.10045	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1494.43	33	chr2	217848829	.	C	T	1494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.342;SOR=0.687	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1506,0,982	9	0	1	0
chr2	218434679	218434679	T	G	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon14:c.T1654G:p.S552A	Cholestasis, progressive canalicular (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00706494314073	.	.	8.348e-06	0	0	0	0	0	0	6.497e-05	6.5e-06	1	154602	rs765227403	7.526e-06	7.524e-06	1.361e-06	1.375e-05	0.0001	4.04e-06	2.95e-06	7.125e-05	5.483e-05	0	0	0	0	0	0	0	0	0.0001	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.343	0.15984	T	0.574	0.08685	T	0.0	0.02946	B	0.009	0.14300	B	0.164437	0.17562	N	0.551366	1	0.08975	N	1.18	0.29980	L	1.01	0.41058	T	-1.46	0.38924	N	0.277	0.31365	-1.0198	0.23780	T	0.081	0.32119	T	10	0.101123095	0.18456	T	0.007065	0.18704	T	0.071	0.20720	0.66	0.79791	0.57631073843	0.57299	0.3514572219477349	0.35059	0.154120143453	0.17397	0.394367665052	0.24283	T	0.09233	0.38981	T	-0.403686	0.02189	T	-0.557965	0.16568	T	0.0324376858770847	0.02377	T	0.69903	0.30897	T	0.07454556	0.16737	0.058545277	0.10836	0.07454556	0.16736	0.058545277	0.10835	-5.633	0.43093	T	.	.	0.087	0.16319	B	.;.;.	.;.;.	1.819136	0.23114	15.89	0.94656830996997188	0.25269	0.12525	0.17322	N	AEFDBCI	0.341943	0.43826	N	-0.579859424207156	0.19556	1.024494	-0.518827654325284	0.21642	1.171739	0.816657931011269	0.24450	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.32	3.11	0.34883	0.281000	0.18568	3.499000	0.38765	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.847000	0.40026	0.2262:0.0:0.2943:0.4795	4.817	0.12738	927	0.17636	Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1506.43	34	chr2	218434679	.	T	G	1506.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=456;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.077;SOR=0.844	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1518,0,1734	9	0	1	0
chr2	219006485	219006485	C	T	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_194302:exon30:c.G4699A:p.E1567K	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00503622355902	0.0004	0.00119808	0.0016	0	0.0005	0	0	0.0007	0.0011	0.0088	0.0014101	218	154602	rs149635127	0.0010	0.0010	0.0009	0.0012	0.0080	0.0010	0.0010	0.0075	0.0073	8.961e-05	0.0005	0.0031	0	0	0.0028	0.0006	0.0012	0.0080	0.0005	0.0005	0.0005	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	2.406e-05	0	0.0004	0.0043	0	0	0	0.0005	0.0009	0.0046	0.376	0.11334	T	0.002	0.79402	D	0.152	0.28062	B	0.058	0.26451	B	0.130895	0.18642	N	0.445778	0.737426	0.29769	N	.	.	.	3.53	0.04852	T	-0.68	0.19509	N	0.197	0.24260	-1.0335	0.19332	T	0.020	0.08220	T	10	0.0048318207	0.00103	T	0.005036	0.12722	T	0.032	0.07718	.	.	0.273070737957	0.26916	0.36986674017828475	0.36900	0.0804903107758	0.09062	0.286842107773	0.08464	T	0.012049	0.10654	T	-0.582721	0.00185	T	-0.603983	0.12478	T	0.020103478559073	0.00711	T	0.634537	0.24876	T	0.13680832	0.31702	0.14295444	0.33991	0.13680832	0.31702	0.14295444	0.33990	-2.262	0.04352	T	.	.	0.075	0.05317	B	.;.	.;.	1.646257	0.21009	15.01	0.99669575394439025	0.78523	0.44148	0.27255	N	AEFBI	0.129140	0.24720	N	-0.377654692256713	0.26266	1.432249	-0.328266726446925	0.27190	1.507017	0.965988178007688	0.28870	0.59774	0.34471	0	0.59043	0.45803	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	5.26	4.38	0.52019	2.297000	0.43254	3.062000	0.36164	0.596000	0.33519	0.119000	0.23158	0.431000	0.24855	0.341000	0.25455	0.1848:0.8152:0.0:0.0	11.062	0.47169	599	0.68140	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.000000	0.001359	0.014620	0.050000	0.000000	0.012195	0.011364	0.05	1490.43	35	chr2	219006485	.	C	T	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.57;DP=438;ExcessHet=0;FS=3.259;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=1.92;SOR=0.807	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1502,0,1337	9	0	1	0
chr2	230392195	230392195	G	A	exonic	SP140L	.	nonsynonymous SNV	SP140L:NM_001308163:exon10:c.G893A:p.R298H,SP140L:NM_001352894:exon10:c.G893A:p.R298H,SP140L:NM_001308162:exon11:c.G998A:p.R333H,SP140L:NM_001352893:exon11:c.G968A:p.R323H,SP140L:NM_001352892:exon12:c.G1073A:p.R358H,SP140L:NM_138402:exon12:c.G1073A:p.R358H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0798866497882	8e-05	0.000399361	0.0002	0	0	0.0010	0	0.0001	0	0.0001	0.0001358	21	154602	rs187540993	9.236e-05	9.235e-05	7.351e-05	0.0001	0.0004	7.958e-05	7.432e-05	0.0003	0.0002	0	2.237e-05	0	0.0004	0	0	9.263e-05	4.968e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0013	8.657e-05	7.251e-05	0.0006	0.0004	0	0	0	0	0.0013	0.0002	0	0.0002	0	0	0.034	0.46129	D	0.066	0.48594	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.63	0.76995	M	-1.42	0.80645	T	-3.84	0.72240	D	0.284	0.38335	-0.3756	0.72789	T	0.586	0.85158	D	9	0.07041067	0.10239	T	0.079887	0.73337	D	0.311	0.63269	.	.	0.745894655361	0.74360	0.24082672146950818	0.23996	0.405184930583	0.41409	0.292240083218	0.09249	T	0.367083	0.85980	T	-0.264209	0.12411	T	-0.226408	0.52119	T	0.236022576535393	0.22235	T	0.907009	0.69352	D	0.084876224	0.19664	0.14630355	0.34666	0.084876224	0.19664	0.14630355	0.34665	-8.742	0.66021	D	.	.	0.227	0.45895	B	.;.;.;.	.;.;.;.	2.753741	0.36104	20.2	0.99779425141607003	0.86606	0.01867	0.05758	N	AEFBI	0.029217	0.02717	N	-0.323810935885494	0.28245	1.556386	-0.636101978272373	0.18567	0.9924888	0.00487256818174016	0.10746	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	3.44	-1.81	0.07456	-0.178000	0.09775	-0.916000	0.06937	0.618000	0.50648	0.006000	0.17386	0.000000	0.08366	0.020000	0.11549	0.4505:0.0:0.3655:0.184	3.409	0.06925	958	0.09170	.;SAND domain|SAND domain|SAND domain;SAND domain|SAND domain|SAND domain;SAND domain|SAND domain|SAND domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2255.43	151	chr2	230392195	.	G	A	2255.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.47;DP=1143;ExcessHet=0;FS=0.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=0.951;QD=10.49;ReadPosRankSum=1.02;SOR=0.653	GT:AD:DP:GQ:PL	0/1:114,101:215:99:2267,0,2578	9	0	1	0
chr2	230875806	230875806	C	T	exonic	ITM2C	.	nonsynonymous SNV	ITM2C:NM_001012514:exon2:c.C307T:p.R103W,ITM2C:NM_001012516:exon3:c.C448T:p.R150W,ITM2C:NM_001287240:exon3:c.C262T:p.R88W,ITM2C:NM_030926:exon3:c.C448T:p.R150W,ITM2C:NM_001287241:exon4:c.C448T:p.R150W	.	.	.	.	.	.	.	.	0.9946	0.768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.751	0.208835630294	.	.	5.24e-05	0	0	0	0.0008	0	0.0012	0	3.88e-05	6	154602	rs146175008	1.771e-05	3.293e-05	1.659e-05	1.888e-05	9.876e-07	1.179e-05	9.85e-06	.	.	0	0	0	0	0.0005	0	9.876e-07	0	0	4.357e-05	3.963e-05	6.583e-05	1.852e-05	.	1.674e-05	1.025e-05	.	.	0	0	0	0	0	0.0009	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.8	0.81625	M	-1.37	0.80214	T	-6.75	0.92782	D	0.891	0.89131	0.326	0.87973	D	0.633	0.87159	D	10	0.5629531	0.65504	D	0.208836	0.87167	D	0.751	0.91456	0.546	0.66015	0.895792057999	0.89476	0.8796640187078952	0.87934	0.892270593278	0.70263	0.883351802826	0.94408	D	0.247362	0.71208	T	0.380293	0.88728	D	0.308488	0.88585	D	0.866350889205933	0.51641	D	0.980102	0.95172	D	0.7855013	0.82993	0.67686254	0.81022	0.7855013	0.82995	0.67686254	0.81023	-6.105	0.47150	T	.	.	0.723	0.73988	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	7.041244	0.96069	35	0.99908944422033041	0.97875	0.90416	0.51574	D	AEFDBCI	0.940410	0.94232	D	0.511230810165062	0.67751	5.123848	0.43923379049788	0.64027	4.648925	0.992896604623574	0.33008	0.706298	0.61202	0	0.702456	0.74545	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.19	3.3	0.36912	0.713000	0.25464	0.216000	0.16018	0.549000	0.26987	0.999000	0.42656	0.969000	0.29651	0.988000	0.63387	0.3421:0.6579:0.0:0.0	10.742	0.45355	643	0.63827	BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;.;.;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS 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	.	.	.	.	.	.	.	.	0.05	826.43	57	chr2	230875806	.	C	T	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.203;DP=530;ExcessHet=0;FS=2.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.418;SOR=0.412	GT:AD:DP:GQ:PL	0/1:22,30:52:99:838,0,586	9	0	1	0
chr2	231355889	231355889	A	G	exonic	ARMC9	.	nonsynonymous SNV	ARMC9:NM_001271466:exon22:c.A2086G:p.R696G,ARMC9:NM_001352754:exon22:c.A2086G:p.R696G	.	431	1084	7	0	0	7	0.00321839	.	.	.	850624	ARMC9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	.	0.000399361	0.0033	0.0018	0	0	0	0	0	0.0055	0.0002975	46	154602	rs536000748	0.0005	0.0005	0.0004	0.0007	0.0065	0.0005	0.0005	0.0060	0.0058	0	2.801e-05	0	0	0	0.0016	0.0002	0.0004	0.0065	0.0003	0.0003	0.0002	0.0004	0.0048	0.0002	0.0002	0.0033	0.0028	2.405e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0048	.	.	.	0.313	0.19539	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.245	0.31408	L	.	.	.	.	.	.	0.078	0.05287	-1.0103	0.26823	T	0.048	0.20632	T	5	0.003667593	0.00067	T	.	.	.	.	.	.	.	0.117506650769	0.11410	0.2664024794692467	0.26553	.	.	0.212667569518	0.00930	T	0.066998	0.33087	T	-0.441211	0.01272	T	-0.403934	0.32928	T	0.0393220703384064	0.03568	T	0.370263	0.08727	T	0.102923565	0.24323	0.07763678	0.17315	0.102923565	0.24322	0.07763678	0.17314	-3.394	0.14976	T	.	.	0.070	0.03887	B	.;.	.;.	-0.539713	0.01744	0.131	0.78853936401244029	0.12481	0.01026	0.03852	N	AEFDBI	.	.	.	-0.626893826490276	0.18140	0.939364	-0.775706394163786	0.15091	0.7919886	0.998326481345788	0.36758	0.089122	0.02304	2	0.097471	0.02872	0	0.076361	0.02342	2	0.007143	0.00067	3	0.171638	0.28971	3.85	-0.116	0.12895	-0.384000	0.07447	-0.441000	0.09160	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.089000	0.17737	0.5889:0.1908:0.2203:0.0	3.741	0.08056	916	0.20744	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	969.43	41	chr2	231355889	.	A	G	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.476;DP=413;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.497;SOR=0.573	GT:AD:DP:GQ:PL	0/1:44,43:87:99:981,0,1053	9	0	1	0
chr2	232524146	232524146	G	A	exonic	PRSS56	.	nonsynonymous SNV	PRSS56:NM_001195129:exon10:c.G1294A:p.A432T,PRSS56:NM_001369848:exon10:c.G1297A:p.A433T	Microphthalmia, isolated 6, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	2438323	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.429705568392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166788257	1.176e-05	1.437e-05	1.014e-05	1.343e-05	0.0004	6.96e-06	5.63e-06	6.857e-05	2.868e-05	0	0	0	0	0	0.0004	1.309e-05	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.20218	L	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	0.14998326	0.28375	T	0.429706	0.93957	D	.	.	.	.	0.266385636622	0.26244	0.3461554976186714	0.34529	.	.	0.728302359581	0.71258	T	0.010905	0.09797	T	-0.090476	0.37996	T	-0.367739	0.37152	T	.	.	.	0.582942	0.21167	T	0.037450023	0.04802	0.11440083	0.27615	0.037450023	0.04801	0.11440083	0.27614	-4.825	0.34881	T	.	.	0.077	0.06942	B	.;.	.;.	2.324342	0.29769	18.23	0.94021437066164626	0.24129	0.10116	0.15710	N	AEFDBCI	0.068026	0.13401	N	.	.	.	.	.	.	0.999980992463292	0.51787	0.166803	0.03914	0	0.166317	0.03975	0	0.182457	0.04408	0	0.109499	0.03221	0	.	.	3.81	1.91	0.24841	1.075000	0.30328	1.122000	0.24252	0.590000	0.31872	0.039000	0.20931	0.018000	0.20648	0.154000	0.20445	0.1055:0.0:0.6985:0.196	5.748	0.17402	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	.	.	.	.	.	.	.	.	0.05	425.43	40	chr2	232524146	.	G	A	425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.299;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=1.92;SOR=0.76	GT:AD:DP:GQ:PL	0/1:25,19:44:99:437,0,614	9	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4156.0	117	chr2	232847517	.	A	*	4156.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.101;DP=939;ExcessHet=0.3131;FS=1.955;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=0.509;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,31:82:99:0|1:232847515_C_CCG:3654,2124,2069:232847515	4	2	4	0
chr2	233713742	233713742	C	T	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.C751T:p.H251Y	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0113149828291	0.0002	.	7.414e-05	0.0003	0	0	0	8.992e-05	0	0	3.84e-05	1	26028	rs138898755	1.437e-05	0.0002	2.043e-05	8.256e-06	0.0005	9.24e-06	7.84e-06	0.0001	0.0001	0.0003	6.709e-05	0	0	0	0.0005	2.7e-06	4.972e-05	0	0.0001	0.0003	0.0002	0.0001	0.0004	9.749e-05	8.262e-05	0.0002	0.0002	0.0004	0	6.546e-05	0.0003	0	9.438e-05	0	4.415e-05	0	0	0.113	0.28772	T	0.101	0.38596	T	0.0	0.02946	B	0.001	0.04355	B	0.727123	0.09886	N	0.881421	1	0.08975	N	0.835	0.21042	L	0.21	0.59983	T	-1.98	0.45769	N	0.158	0.16447	-0.9489	0.41160	T	0.136	0.45222	T	10	0.06871006	0.09755	T	0.011315	0.28804	T	0.052	0.14661	.	.	0.536051623013	0.53255	0.2669587053222542	0.26608	0.191408661664	0.21466	.	.	.	0.136938	0.46959	T	-0.287273	0.09911	T	-0.650424	0.08924	T	0.0090427826824865	0.00113	T	0.183282	0.01882	T	0.080699556	0.18503	0.07667488	0.17005	0.080699556	0.18503	0.07667488	0.17005	-6.372	0.49291	T	0.18648030298997914	0.24275	0.109	0.20819	B	.	.	-0.299102	0.02622	0.328	0.80527642509212338	0.13245	0.03078	0.07994	N	AEFGBI	0.080123	0.16195	N	-0.920671171938925	0.10359	0.4946523	-1.00098062331752	0.09764	0.4876765	0.941526819798305	0.27481	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.73	-0.631	0.10947	-1.152000	0.03283	-2.502000	0.03676	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3028:0.3787:0.0:0.3185	4.286	0.10302	482	0.77288	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2466.43	33	chr2	233713742	.	C	T	2466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.516;DP=1168;ExcessHet=0;FS=3.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.63;MQRankSum=-6.296;QD=6.68;ReadPosRankSum=-1.531;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:286,83:369:99:0|1:233713742_C_T:2478,0,11358:233713742	9	0	1	0
chr2	233719499	233719499	T	G	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.T679G:p.F227V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00573746278558	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	0.0001537	4	26028	rs761613256	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	2.988e-05	0.0001	0.0019	0	7.49e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.221e-05	0	0.0003	0.0015	0	0	0	0.0004	0	0	0.264	0.16358	T	0.209	0.26798	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.29	0.00724	N	0.21	0.59983	T	-0.15	0.09297	N	0.027	0.00571	-1.0436	0.16236	T	0.078	0.31072	T	9	0.028502882	0.00982	T	0.005737	0.14892	T	0.039	0.10176	.	.	0.0551355673512	0.04727	0.2810788905933451	0.28020	0.0289275818921	0.02979	0.27887159586	0.07335	T	0.108492	0.42158	T	-0.465863	0.00903	T	-0.725428	0.04538	T	0.067851069037009	0.08347	T	0.0310969	0.00196	T	0.03127977	0.02939	0.037190914	0.03321	0.03127977	0.02939	0.037190914	0.03321	-4.373	0.29188	T	0.06516322713848298	0.02128	0.097	0.15654	B	.	.	-2.066901	0.00087	0.002	0.42419310585553532	0.03126	0.00592	0.02653	N	AEFBI	0.483196	0.52374	N	-2.47573356583498	0.00018	0.0007854947	-2.59448812541544	0.00014	0.0006167354	0.999999900159322	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.49	-8.98	0.00647	-5.409000	0.00148	-20.000000	0.00162	-6.354000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0888:0.0655:0.2356:0.61	5.583	0.16543	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	73.43	43	chr2	233719499	.	T	G	73.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=1054;ExcessHet=0;FS=7.295;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.69;MQRankSum=-13.44;QD=0.38;ReadPosRankSum=-4.056;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,15:193:85:0|1:233719496_A_G:85,0,7403:233719496	9	0	1	0
chr2	237387599	237387599	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057165:exon3:c.C677T:p.P226L,COL6A3:NM_057167:exon3:c.C677T:p.P226L,COL6A3:NM_004369:exon4:c.C1295T:p.P432L	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.705	0.24764600747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.84481	D	0.000238	0.47286	U	0.000000	1	0.81001	D	1.82	0.47800	L	-2.47	0.88997	D	-3.43	0.79229	D	0.699	0.74553	0.740	0.93664	D	0.806	0.93461	D	10	0.8254856	0.81731	D	0.247646	0.88977	D	0.705	0.89422	0.499	0.58991	0.945467474279	0.94489	0.6306218285824045	0.62996	0.599532769812	0.55070	0.623742938042	0.56257	T	0.496671	0.81887	T	0.389352	0.89290	D	0.321501	0.89155	D	0.990690350532532	0.80923	D	0.926207	0.76468	D	0.33064625	0.55524	0.22972591	0.48053	0.33064625	0.55524	0.22972591	0.48052	-4.556	0.34310	T	.	.	0.215	0.56118	B	.;.;.;.;.;.	.;.;.;.;.;.	4.388252	0.67704	25.1	0.99461794306977125	0.65840	0.99605	0.97912	D	AEFBHI	0.888661	0.82201	D	0.720930308788609	0.81003	7.421812	0.706332557870599	0.82860	7.872919	0.99999999981104	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	6.769000	0.74780	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.727	0.91680	933	0.16026	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	860.43	34	chr2	237387599	.	G	A	860.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.148;DP=401;ExcessHet=0;FS=6.505;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.411;SOR=1.461	GT:AD:DP:GQ:PL	0/1:42,33:75:99:872,0,1101	9	0	1	0
chr3	12936043	12936043	C	T	exonic	IQSEC1	.	nonsynonymous SNV	IQSEC1:NM_001134382:exon3:c.G973A:p.A325T,IQSEC1:NM_001330619:exon3:c.G649A:p.A217T,IQSEC1:NM_014869:exon3:c.G1015A:p.A339T,IQSEC1:NM_001376938:exon5:c.G1297A:p.A433T	.	.	.	.	.	.	.	.	.	.	.	2679633	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.0168634935551	7.9e-05	.	0.0001	0.0001	8.818e-05	0.0001	0	0.0002	0	6.121e-05	0.0001229	19	154602	rs372228887	9.026e-05	9.371e-05	9.466e-05	8.582e-05	0.0002	7.745e-05	7.285e-05	7.599e-05	7.088e-05	2.988e-05	0.0002	0	0.0001	6.881e-05	0.0002	9.085e-05	0.0002	2.319e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.88e-05	0	0	0.392	0.10766	T	0.795	0.06881	T	0.001	0.07471	B	0.001	0.04355	B	0.043679	0.23716	N	0.474736	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.71	0.20145	N	0.095	0.11912	-1.0191	0.24008	T	0.041	0.17488	T	9	0.10298577	0.18907	T	0.016863	0.38312	T	0.169	0.43123	.	.	0.640554438947	0.63759	0.16068317055373854	0.15989	0.484856339014	0.47389	0.448931455612	0.31798	T	0.051648	0.28938	T	-0.375405	0.03329	T	-0.50772	0.21550	T	0.0729858353734016	0.09063	T	0.666633	0.27564	T	0.016865902	0.00228	0.03113861	0.01661	0.016865902	0.00228	0.03113861	0.01661	-4.724	0.33693	T	.	.	0.067	0.04041	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.394164	0.07656	4.325	0.90525653885203572	0.19782	0.30316	0.24051	N	AEFDBI	0.035553	0.04597	N	-0.958101437406542	0.09512	0.4504996	-1.1047910988643	0.07608	0.3707401	0.985945779771893	0.30976	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.491896	0.07777	0	.	.	4.86	-3.73	0.04112	0.753000	0.26042	-2.799000	0.03349	-1.798000	0.00628	0.930000	0.32276	0.000000	0.08366	0.002000	0.04165	0.3523:0.1821:0.1628:0.3028	0.209	0.00143	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1453.43	34	chr3	12936043	.	C	T	1453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=1.11;SOR=0.741	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1465,0,1433	9	0	1	0
chr3	13571581	13571581	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001004019:exon2:c.C1226T:p.P409L,FBLN2:NM_001165035:exon2:c.C1226T:p.P409L,FBLN2:NM_001998:exon2:c.C1226T:p.P409L	.	424	1055	43	0	0	43	0.0199721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0029	0.0107827	0.0092	0.0012	0.0020	0.0001	0.0002	0.0045	0.0036	0.0495	0.0082211	1271	154602	rs113265853	0.0067	0.0067	0.0055	0.0079	0.0456	0.0066	0.0065	0.0445	0.0440	0.0007	0.0017	0.0079	0.0001	0.0005	0.0151	0.0045	0.0078	0.0456	0.0044	0.0044	0.0040	0.0049	0.0370	0.0042	0.0040	0.0326	0.0309	0.0013	0	0.0029	0.0072	0	0.0006	0.0102	0.0052	0.0057	0.0370	0.142	0.25457	T	0.229	0.25210	T	0.037	0.20876	B	0.006	0.12133	B	0.707188	0.10044	N	0.862260	0.999978	0.18612	N	1.5	0.37844	L	-1.21	0.78645	T	-1.09	0.28290	N	0.134	0.13055	-0.9270	0.44573	T	0.170	0.51020	T	10	0.0025327504	0.00038	T	.	.	.	0.107	0.30369	.	.	0.256237801699	0.25221	0.42514303904641865	0.42431	0.126456553319	0.14255	0.256454885006	0.04477	T	0.227162	0.59237	T	-0.483817	0.00703	T	-0.43489	0.29382	T	0.00595067492918667	0.00065	T	0.684232	0.29249	T	0.03889599	0.05269	0.03206822	0.01886	0.03889599	0.05269	0.03206822	0.01886	-7.252	0.60064	T	.	.	0.074	0.06849	B	.;.;.	.;.;.	0.804273	0.11749	8.326	0.43754700355444892	0.03316	0.14055	0.18198	N	AEFDBI	0.085707	0.17376	N	-0.957163362943768	0.09532	0.4515708	-0.981177737210309	0.10209	0.5126888	0.998497507380997	0.37071	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.85	0.861	0.18186	0.731000	0.25726	-1.422000	0.05477	0.599000	0.40250	0.078000	0.22289	0.000000	0.08366	0.007000	0.07825	0.0:0.6287:0.1376:0.2337	5.851	0.17945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.005051	0.012228	0.008772	0.050000	0.034483	0.030488	0.030303	0.05	1931.43	40	chr3	13571581	.	C	T	1931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.235;DP=472;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-2.013;SOR=0.813	GT:AD:DP:GQ:PL	0/1:67,83:150:99:1943,0,1411	9	0	1	0
chr3	30778259	30778259	C	T	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon14:c.G1312A:p.A438T	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00659389926062	0.0049	0.00199681	0.0037	0.0008	0.0017	0	0.0033	0.0054	0.0066	0.0018	0.0001921	5	26028	rs143542109	0.0052	0.0053	0.0051	0.0052	0.0056	0.0051	0.0050	0.0055	0.0054	0.0005	0.0023	0.0185	0	0.0034	0.0024	0.0056	0.0049	0.0026	0.0042	0.0042	0.0047	0.0037	0.0064	0.0039	0.0038	0.0059	0.0057	0.0010	0	0.0028	0.0202	0	0.0033	0.0034	0.0064	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000786	0.41772	N	0.241129	0.935291	0.26948	N	-0.15	0.04376	N	1.18	0.37746	T	1.62	0.00637	N	0.463	0.49965	-1.0374	0.18109	T	0.020	0.08593	T	10	0.010186911	0.00228	T	0.006594	0.17386	T	0.050	0.13987	.	.	0.0297737177859	0.01360	0.47175260623024184	0.47094	0.0095085458128	0.00866	0.435543239117	0.29967	T	0.008	0.07715	T	-0.540843	0.00331	T	-0.545935	0.17718	T	0.00757071028522608	0.00088	T	0.835117	0.50455	T	0.033086956	0.03459	0.07781945	0.17372	0.033086956	0.03458	0.07781945	0.17371	-2.701	0.07312	T	.	.	0.111	0.21541	B	.	.	2.551693	0.33031	19.22	0.38348791463395926	0.02581	0.77915	0.38368	D	AEFBI	0.174041	0.30115	N	-0.518554976326813	0.21480	1.140251	-0.241176085524428	0.30077	1.690382	0.98632270452313	0.31043	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.02	3.86	0.43689	3.394000	0.52294	3.323000	0.37562	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.7967:0.0:0.2033	9.603	0.38782	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.050000	0.000000	0.003067	0.007576	0.05	279.43	37	chr3	30778259	.	C	T	279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.416;DP=346;ExcessHet=0;FS=3.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.063;SOR=0.209	GT:AD:DP:GQ:PL	0/1:9,14:23:99:291,0,238	9	0	1	0
chr3	46408399	46408399	T	C	exonic	CCRL2	.	nonsynonymous SNV	CCRL2:NM_001130910:exon2:c.T356C:p.I119T,CCRL2:NM_003965:exon2:c.T320C:p.I107T	.	.	.	.	.	.	.	.	.	.	.	2282048	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00832224925878	0.0002	.	9.108e-05	0.0002	8.639e-05	0	0	8.99e-05	0	0.0001	0.00011	17	154602	rs200793737	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	9.415e-05	0.0009	0.0008	0.0012	4.472e-05	0.0001	0.0001	0	0.0014	8.184e-05	0.0002	4.637e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.159e-05	6.717e-05	0.0001	7.893e-05	0.0001	0	0	0	0.0002	0	0	0.0002	0	0	0.2	0.20683	T	0.526	0.10245	T	0.054	0.22658	B	0.039	0.23607	B	0.844996	0.09005	N	0.916092	1	0.08975	N	-1.33	0.00679	N	1.2	0.37405	T	1.45	0.00785	N	0.028	0.00618	-0.9664	0.37934	T	0.026	0.11087	T	10	0.039240986	0.02400	T	0.008322	0.22029	T	0.061	0.17616	.	.	0.0482279557977	0.04254	0.0957041588496537	0.09502	0.0383544989029	0.04084	0.23479783535	0.02341	T	0.016717	0.13762	T	-0.380027	0.03115	T	-0.54699	0.17616	T	0.0195804809608441	0.00661	T	0.232977	0.03169	T	0.040417455	0.05764	0.048920482	0.07368	0.040417455	0.05764	0.048920482	0.07367	-1.243	0.01865	T	.	.	0.065	0.11989	B	.;.;.;.;.	.;.;.;.;.	-0.798267	0.01110	0.050	0.4307310315205839	0.03218	0.05196	0.11019	N	AEFDBCI	0.078347	0.15806	N	-1.70017570077268	0.00841	0.03637723	-1.69768217648131	0.01147	0.05161847	0.999999036511266	0.74766	0.50284	0.20314	0	0.588066	0.40923	0	0.547309	0.15389	0	0.654926	0.60358	0	.	.	5.24	-5.19	0.02616	-1.122000	0.03378	-1.631000	0.05024	-2.806000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1404:0.6546:0.0:0.205	9.481	0.38062	423	0.81269	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1549.43	33	chr3	46408399	.	T	C	1549.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=482;ExcessHet=0;FS=4.225;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.498;SOR=1.085	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1561,0,1804	9	0	1	0
chr3	47870943	47870943	G	A	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384817:exon9:c.C1190T:p.S397L,MAP4:NM_001384835:exon9:c.C1043T:p.S348L,MAP4:NM_001384680:exon10:c.C2423T:p.S808L,MAP4:NM_001384802:exon10:c.C1259T:p.S420L,MAP4:NM_001384808:exon10:c.C1259T:p.S420L,MAP4:NM_001384812:exon10:c.C1259T:p.S420L,MAP4:NM_001384815:exon10:c.C1259T:p.S420L,MAP4:NM_001384842:exon10:c.C2276T:p.S759L,MAP4:NM_001385676:exon10:c.C2321T:p.S774L,MAP4:NM_001384746:exon11:c.C2537T:p.S846L,MAP4:NM_001384753:exon11:c.C2462T:p.S821L,MAP4:NM_001384757:exon11:c.C2537T:p.S846L,MAP4:NM_001384760:exon11:c.C2390T:p.S797L,MAP4:NM_001384780:exon11:c.C2444T:p.S815L,MAP4:NM_001384784:exon11:c.C1289T:p.S430L,MAP4:NM_001384787:exon11:c.C2444T:p.S815L,MAP4:NM_001384803:exon11:c.C2492T:p.S831L,MAP4:NM_001384805:exon11:c.C2390T:p.S797L,MAP4:NM_001384807:exon11:c.C2492T:p.S831L,MAP4:NM_001384811:exon11:c.C2444T:p.S815L,MAP4:NM_001384826:exon11:c.C2390T:p.S797L,MAP4:NM_001384843:exon11:c.C2492T:p.S831L,MAP4:NM_001384851:exon11:c.C2399T:p.S800L,MAP4:NM_001384862:exon11:c.C2210T:p.S737L,MAP4:NM_001384864:exon11:c.C2537T:p.S846L,MAP4:NM_001384866:exon11:c.C2390T:p.S797L,MAP4:NM_001384877:exon11:c.C1382T:p.S461L,MAP4:NM_001384675:exon12:c.C2606T:p.S869L,MAP4:NM_001384681:exon12:c.C2606T:p.S869L,MAP4:NM_001384707:exon12:c.C2531T:p.S844L,MAP4:NM_001384730:exon12:c.C2660T:p.S887L,MAP4:NM_001384752:exon12:c.C2513T:p.S838L,MAP4:NM_001384755:exon12:c.C2606T:p.S869L,MAP4:NM_001384758:exon12:c.C2615T:p.S872L,MAP4:NM_001384759:exon12:c.C2531T:p.S844L,MAP4:NM_001384762:exon12:c.C1505T:p.S502L,MAP4:NM_001384776:exon12:c.C2615T:p.S872L,MAP4:NM_001384777:exon12:c.C2660T:p.S887L,MAP4:NM_001384779:exon12:c.C2513T:p.S838L,MAP4:NM_001384782:exon12:c.C2660T:p.S887L,MAP4:NM_001384783:exon12:c.C2660T:p.S887L,MAP4:NM_001384785:exon12:c.C2513T:p.S838L,MAP4:NM_001384786:exon12:c.C2660T:p.S887L,MAP4:NM_001384789:exon12:c.C2441T:p.S814L,MAP4:NM_001384804:exon12:c.C2534T:p.S845L,MAP4:NM_001384806:exon12:c.C2606T:p.S869L,MAP4:NM_001384809:exon12:c.C2513T:p.S838L,MAP4:NM_001384813:exon12:c.C1427T:p.S476L,MAP4:NM_001384816:exon12:c.C2660T:p.S887L,MAP4:NM_001384825:exon12:c.C2615T:p.S872L,MAP4:NM_001384828:exon12:c.C2660T:p.S887L,MAP4:NM_001384831:exon12:c.C2513T:p.S838L,MAP4:NM_001384832:exon12:c.C2615T:p.S872L,MAP4:NM_001384836:exon12:c.C2606T:p.S869L,MAP4:NM_001384837:exon12:c.C2606T:p.S869L,MAP4:NM_001384839:exon12:c.C2408T:p.S803L,MAP4:NM_001384840:exon12:c.C2513T:p.S838L,MAP4:NM_001384841:exon12:c.C2615T:p.S872L,MAP4:NM_001384844:exon12:c.C2513T:p.S838L,MAP4:NM_001384845:exon12:c.C2408T:p.S803L,MAP4:NM_001384847:exon12:c.C2513T:p.S838L,MAP4:NM_001384850:exon12:c.C2531T:p.S844L,MAP4:NM_001384853:exon12:c.C2606T:p.S869L,MAP4:NM_001384857:exon12:c.C2660T:p.S887L,MAP4:NM_001384861:exon12:c.C2513T:p.S838L,MAP4:NM_001384867:exon12:c.C2408T:p.S803L,MAP4:NM_001384868:exon12:c.C2606T:p.S869L,MAP4:NM_001384869:exon12:c.C2660T:p.S887L,MAP4:NM_001384870:exon12:c.C2513T:p.S838L,MAP4:NM_001384876:exon12:c.C2615T:p.S872L,MAP4:NM_001384878:exon12:c.C2606T:p.S869L,MAP4:NM_001384893:exon12:c.C2606T:p.S869L,MAP4:NM_001385685:exon12:c.C2513T:p.S838L,MAP4:NM_001134364:exon13:c.C2729T:p.S910L,MAP4:NM_001384676:exon13:c.C2729T:p.S910L,MAP4:NM_001384677:exon13:c.C2729T:p.S910L,MAP4:NM_001384733:exon13:c.C2654T:p.S885L,MAP4:NM_001384734:exon13:c.C2729T:p.S910L,MAP4:NM_001384735:exon13:c.C2729T:p.S910L,MAP4:NM_001384737:exon13:c.C2654T:p.S885L,MAP4:NM_001384744:exon13:c.C2657T:p.S886L,MAP4:NM_001384751:exon13:c.C2729T:p.S910L,MAP4:NM_001384754:exon13:c.C2729T:p.S910L,MAP4:NM_001384756:exon13:c.C2729T:p.S910L,MAP4:NM_001384761:exon13:c.C2654T:p.S885L,MAP4:NM_001384774:exon13:c.C2729T:p.S910L,MAP4:NM_001384778:exon13:c.C2096T:p.S699L,MAP4:NM_001384781:exon13:c.C2729T:p.S910L,MAP4:NM_001384791:exon13:c.C2657T:p.S886L,MAP4:NM_001384793:exon13:c.C2582T:p.S861L,MAP4:NM_001384794:exon13:c.C2564T:p.S855L,MAP4:NM_001384797:exon13:c.C2657T:p.S886L,MAP4:NM_001384798:exon13:c.C2729T:p.S910L,MAP4:NM_001384800:exon13:c.C2729T:p.S910L,MAP4:NM_001384810:exon13:c.C2729T:p.S910L,MAP4:NM_001384814:exon13:c.C2729T:p.S910L,MAP4:NM_001384819:exon13:c.C2729T:p.S910L,MAP4:NM_001384820:exon13:c.C2654T:p.S885L,MAP4:NM_001384824:exon13:c.C2654T:p.S885L,MAP4:NM_001384827:exon13:c.C2657T:p.S886L,MAP4:NM_001384834:exon13:c.C2639T:p.S880L,MAP4:NM_001384838:exon13:c.C2702T:p.S901L,MAP4:NM_001384846:exon13:c.C2729T:p.S910L,MAP4:NM_001384848:exon13:c.C2729T:p.S910L,MAP4:NM_001384849:exon13:c.C2690T:p.S897L,MAP4:NM_001384856:exon13:c.C2096T:p.S699L,MAP4:NM_001384859:exon13:c.C2651T:p.S884L,MAP4:NM_001384871:exon13:c.C2657T:p.S886L,MAP4:NM_001384873:exon13:c.C2651T:p.S884L,MAP4:NM_001384874:exon13:c.C2639T:p.S880L,MAP4:NM_001384879:exon13:c.C2729T:p.S910L,MAP4:NM_001384892:exon13:c.C2639T:p.S880L,MAP4:NM_001385664:exon13:c.C6044T:p.S2015L,MAP4:NM_001385665:exon13:c.C2729T:p.S910L,MAP4:NM_001385677:exon13:c.C2729T:p.S910L,MAP4:NM_001385684:exon13:c.C2729T:p.S910L,MAP4:NM_002375:exon13:c.C2729T:p.S910L,MAP4:NM_001384678:exon14:c.C2765T:p.S922L,MAP4:NM_001384679:exon14:c.C2780T:p.S927L,MAP4:NM_001384731:exon14:c.C2780T:p.S927L,MAP4:NM_001384736:exon14:c.C2780T:p.S927L,MAP4:NM_001384738:exon14:c.C2765T:p.S922L,MAP4:NM_001384748:exon14:c.C2765T:p.S922L,MAP4:NM_001384788:exon14:c.C2780T:p.S927L,MAP4:NM_001384790:exon14:c.C2780T:p.S927L,MAP4:NM_001384792:exon14:c.C2780T:p.S927L,MAP4:NM_001384796:exon14:c.C2780T:p.S927L,MAP4:NM_001384863:exon14:c.C2813T:p.S938L,MAP4:NM_001384872:exon14:c.C2765T:p.S922L,MAP4:NM_001384875:exon14:c.C2765T:p.S922L,MAP4:NM_001385675:exon14:c.C2765T:p.S922L,MAP4:NM_001385681:exon14:c.C2780T:p.S927L,MAP4:NM_001385686:exon14:c.C2780T:p.S927L,MAP4:NM_001384729:exon15:c.C2729T:p.S910L,MAP4:NM_001384745:exon15:c.C2816T:p.S939L,MAP4:NM_001384795:exon15:c.C2816T:p.S939L,MAP4:NM_001385682:exon15:c.C6164T:p.S2055L,MAP4:NM_001385687:exon15:c.C6164T:p.S2055L,MAP4:NM_001385688:exon15:c.C6092T:p.S2031L,MAP4:NM_001385689:exon15:c.C6164T:p.S2055L	.	393	1127	2	0	0	2	0.000886525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0217113425645	0.0003	.	6.606e-05	0.0004	0	0	0	3.003e-05	0	0.0001	5.17e-05	8	154602	rs148978514	5.678e-05	5.678e-05	5.309e-05	6.051e-05	0.0004	4.676e-05	4.301e-05	0.0003	0.0002	0.0004	8.944e-05	0	0	3.745e-05	0	3.148e-05	3.312e-05	0.0003	0.0001	0.0001	0.0001	0.0002	0.0005	9.744e-05	8.258e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.009	0.61437	D	0.028	0.63918	D	0.988	0.62325	D	0.629	0.54387	P	.	.	.	.	1	0.08975	N	1.645	0.42016	L	3.15	0.19860	T	-3.78	0.71519	D	0.116	0.11626	-1.0441	0.16089	T	0.107	0.39027	T	9	0.07925066	0.12726	T	0.021711	0.44515	T	0.050	0.13987	.	.	0.29893580763	0.29502	0.12802892181641157	0.12727	0.0838692635435	0.09456	0.25439953804	0.04246	T	0.075701	0.66865	T	-0.432488	0.01432	T	-0.542859	0.18016	T	0.0878341397897426	0.10958	T	0.889911	0.63872	D	0.10979348	0.25955	0.11786849	0.28454	0.10979348	0.25955	0.11786849	0.28453	-1.947	0.03465	T	.	.	0.079	0.19800	B	.;.;.;.;.;.	.;.;.;.;.;.	1.889555	0.24000	16.23	0.99810166618690588	0.89442	0.35254	0.25259	N	AEFDBI	0.172882	0.29994	N	-0.202930553285379	0.33014	1.86828	-0.276596032455718	0.28871	1.613107	0.999999632206321	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	4.26	0.49832	1.620000	0.36586	4.411000	0.43281	0.676000	0.76740	0.004000	0.16614	0.906000	0.28050	0.345000	0.25546	0.1634:0.0:0.8366:0.0	9.140	0.36062	9	0.99126	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1379.43	34	chr3	47870943	.	G	A	1379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=388;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-0.432;SOR=0.528	GT:AD:DP:GQ:PL	0/1:23,51:74:99:1391,0,403	9	0	1	0
chr3	48589399	48589399	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon18:c.G2242A:p.E748K	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	1	1460	56	5	0	66	0.0221031	.	.	.	251202	not_specified|not_provided|Epidermolysis_bullosa_dystrophica	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0009	0.00379393	0.0033	0.0002	0.0018	0	0	0.0014	0.0011	0.0172	0.0028978	448	154602	rs148411473	0.0018	0.0018	0.0012	0.0024	0.0184	0.0018	0.0017	0.0176	0.0173	0.0003	0.0011	0.0009	0	1.888e-05	0.0141	0.0007	0.0027	0.0184	0.0015	0.0015	0.0012	0.0018	0.0151	0.0013	0.0013	0.0123	0.0113	7.222e-05	0	0.0044	0.0006	0	0	0.0204	0.0011	0.0009	0.0151	0.231	0.18246	T	0.139	0.33666	T	0.959	0.55135	D	0.777	0.57175	P	0.005376	0.32858	N	0.135690	0.508456	0.31667	N	1.9	0.50570	L	0.4	0.57261	T	-0.62	0.18248	N	0.491	0.52475	-0.5244	0.67752	T	0.229	0.59497	T	10	0.011641651	0.00254	T	.	.	.	0.194	0.47447	.	.	0.824655765994	0.82299	0.3013747926667479	0.30050	0.280732358232	0.30549	0.526489496231	0.42541	T	0.117249	0.43719	T	-0.330449	0.06078	T	-0.233164	0.51465	T	0.015706234838433	0.00362	T	0.789521	0.42989	T	0.0975243	0.22990	0.11257368	0.27163	0.0975243	0.22990	0.11257368	0.27163	-7.264	0.55939	T	0.14660050217181989	0.16924	0.135	0.29367	B	.	.	2.133117	0.27159	17.37	0.99226725419442319	0.56089	0.53863	0.29475	D	AEFDBCI	0.204462	0.33089	N	0.353590615966237	0.58928	4.068354	0.303934232186075	0.55768	3.739905	0.999996664336923	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	5.26	5.26	0.73479	0.947000	0.28680	2.714000	0.34259	0.599000	0.40250	0.407000	0.26226	0.994000	0.32194	0.878000	0.41950	0.0:0.9099:0.0:0.0901	10.354	0.43134	11	0.98996	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.016304	0.023392	0.000000	0.008621	0.021341	0.022727	0.1	2784.14	35	chr3	48589399	.	C	T	2784.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.542;DP=520;ExcessHet=0.2348;FS=1.633;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.609;SOR=0.561	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1274,0,1495	8	0	2	0
chr3	49798873	49798873	G	A	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon4:c.C448T:p.R150W	.	412	1098	11	1	0	13	0.00588502	.	.	.	3292817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0648912581705	.	.	0.0001	0	8.98e-05	0	0	6.17e-05	0.0011	0.0004	7.76e-05	12	154602	rs757284426	8.826e-05	8.893e-05	6.807e-05	0.0001	0.0009	7.556e-05	7.102e-05	0.0005	0.0004	0	0.0004	0	0	0	0.0009	4.497e-05	0.0001	0.0006	0.0002	0.0002	0.0001	0.0003	0.0021	0.0001	0.0001	0.0011	0.0009	2.407e-05	0	0.0010	0	0	0	0	1.47e-05	0.0005	0.0021	0.174	0.42487	T	0.027	0.55341	D	0.993	0.68779	D	0.548	0.52381	P	.	.	.	.	1	0.08975	N	1.7	0.43825	L	0.43	0.56772	T	-2.18	0.64246	N	0.337	0.37820	-1.0721	0.08957	T	0.054	0.23034	T	9	0.13008124	0.24755	T	0.064891	0.69415	D	0.114	0.32008	0.549	0.66436	0.321951552304	0.31805	0.2815806244629813	0.28071	0.0731342430252	0.08196	0.244320109487	0.03193	T	0.151213	0.49105	T	-0.384971	0.02897	T	-0.454501	0.27201	T	0.0436726099490868	0.04360	T	0.861714	0.55578	D	0.075667776	0.17063	0.08783108	0.20439	0.075667776	0.17063	0.08783108	0.20439	-6.545	0.50633	T	.	.	0.088	0.14614	B	.;.	.;.	1.421024	0.18380	13.70	0.99819624502397142	0.90238	0.08500	0.14421	N	AEFDBI	0.111530	0.22079	N	-0.831311963618236	0.12514	0.6104934	-0.861418357148815	0.13013	0.6727184	0.999942491101769	0.47345	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.81	0.456	0.15868	-0.024000	0.12382	0.005000	0.13351	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.464000	0.28207	0.0:0.135:0.4495:0.4155	8.860	0.34412	2	0.99499	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1	3716.14	38	chr3	49798873	.	G	A	3716.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.42;DP=632;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.294;SOR=0.717	GT:AD:DP:GQ:PL	0/1:90,77:167:99:1736,0,2138	8	0	2	0
chr3	50295070	50295070	C	T	exonic	HYAL3	.	nonsynonymous SNV	HYAL3:NM_001200029:exon2:c.G533A:p.R178H,HYAL3:NM_001200030:exon2:c.G533A:p.R178H,HYAL3:NM_003549:exon2:c.G533A:p.R178H	.	417	1041	59	5	0	69	0.0320781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0035	0.00539137	0.0053	0.0006	0.0045	0	0	0.0045	0.01	0.0171	0.004877	754	154602	rs139756596	0.0039	0.0039	0.0034	0.0044	0.0178	0.0038	0.0038	0.0170	0.0167	0.0007	0.0040	0.0331	0	7.569e-05	0.0168	0.0024	0.0061	0.0178	0.0032	0.0032	0.0030	0.0034	0.0170	0.0029	0.0028	0.0140	0.0129	0.0006	0	0.0041	0.0331	0	0.0002	0.0102	0.0027	0.0028	0.0170	0.004	0.65419	D	0.029	0.65728	D	1.0	0.90584	D	0.999	0.97372	D	0.000042	0.53742	U	0.069612	0.990805	0.81001	D	3.48	0.92553	M	1.72	0.26588	T	-3.56	0.68880	D	0.299	0.33796	-0.7459	0.58149	T	0.140	0.45922	T	10	0.006772101	0.00154	T	.	.	.	0.250	0.55888	.	.	0.104622674875	0.10061	0.7554816360088094	0.75495	0.737908363262	0.63085	0.288535296917	0.08710	T	0.446394	0.78906	T	-0.423238	0.01632	T	-0.367103	0.37227	T	0.0763690686936043	0.09517	T	0.819918	0.47811	T	0.22886135	0.45613	0.2439974	0.49856	0.22886135	0.45613	0.2439974	0.49855	-7.173	0.55288	T	.	.	0.107	0.22098	B	.;.;.;.	.;.;.;.	3.297172	0.45244	22.1	0.99949030492686874	0.99931	0.33740	0.24901	N	AEFBCI	.	.	.	0.351077098192796	0.58796	4.054184	0.17647269697279	0.48562	3.07037	0.999997892522706	0.74766	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	2.89	0.32713	0.397000	0.20608	1.098000	0.24042	-0.186000	0.09761	0.024000	0.20007	0.869000	0.27571	0.945000	0.48827	0.0:0.8124:0.0:0.1876	9.003	0.35256	3	0.99430	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.005051	0.012228	0.029240	0.000000	0.017241	0.018293	0.015152	0.1	2143.14	37	chr3	50295070	.	C	T	2143.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.88;DP=450;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.6;SOR=0.692	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1093,0,654	8	0	2	0
chr3	53855341	53855341	G	A	exonic	IL17RB	.	nonsynonymous SNV	IL17RB:NM_018725:exon6:c.G529A:p.G177R	.	423	1082	16	1	0	18	0.00824931	1.0000	0.934	.	3409327	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0051	0.00379393	0.0045	0.0013	0.0013	0.0001	0.0020	0.0055	0.0037	0.0079	0.0042561	658	154602	rs2232337	0.0061	0.0062	0.0059	0.0062	0.0077	0.0060	0.0059	0.0072	0.0070	0.0009	0.0026	0.0013	0.0001	0.0022	0.0070	0.0068	0.0059	0.0077	0.0047	0.0047	0.0049	0.0045	0.0083	0.0044	0.0043	0.0067	0.0065	0.0012	0.0241	0.0048	0.0009	0.0004	0.0022	0.0068	0.0073	0.0033	0.0083	0.003	0.68238	D	0.042	0.50226	D	1.0	0.90584	D	0.976	0.73562	D	0.030850	0.25250	N	0.370902	0.998	0.43943	D	2.79	0.81396	M	1.97	0.22067	T	-6.02	0.89684	D	0.547	0.57348	-1.0299	0.20487	T	0.105	0.38390	T	10	0.009253383	0.00209	T	0.008529	0.22557	T	0.197	0.47942	0.249	0.18602	0.32580497728	0.32196	0.6666667538832183	0.66604	0.438844640856	0.43915	0.470101684332	0.34693	T	0.29966	0.67218	T	-0.375446	0.03327	T	-0.307513	0.43926	T	0.0302302730637096	0.02025	T	0.839916	0.51465	T	0.87959445	0.89633	0.7995634	0.88242	0.87959445	0.89634	0.7995634	0.88243	-9.562	0.71244	D	.	.	0.927	0.84729	P	.	.	6.482312	0.95283	34	0.99931107679262343	0.99387	0.97669	0.76290	D	AEFDBI	0.708104	0.66262	D	0.706036327656051	0.80028	7.204421	0.679326305298717	0.80814	7.382819	0.999999999768077	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	6.04	6.04	0.98025	4.954000	0.63335	11.419000	0.92710	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0:0.0:1.0:0.0	16.095	0.80923	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006579	0.010101	0.009537	0.008772	0.000000	0.008621	0.003106	0.003817	0.05	468.43	41	chr3	53855341	.	G	A	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.853;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.691;SOR=0.685	GT:AD:DP:GQ:PL	0/1:19,21:40:99:480,0,388	9	0	1	0
chr3	62403142	62403142	G	A	exonic	CADPS	.	nonsynonymous SNV	CADPS:NM_183393:exon26:c.C3584T:p.T1195M,CADPS:NM_183394:exon27:c.C3704T:p.T1235M,CADPS:NM_003716:exon29:c.C3821T:p.T1274M	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0736996765988	.	.	1.65e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs754461043	1.232e-05	1.368e-05	1.09e-05	1.376e-05	3.48e-05	7.7e-06	6.35e-06	9.24e-06	5.03e-06	0	2.238e-05	0	2.52e-05	0	0	1.17e-05	0	3.48e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.585	0.75554	M	1.4	0.33630	T	-3.41	0.67129	D	0.786	0.78546	-0.6308	0.63537	T	0.241	0.60929	T	10	0.8287612	0.82045	D	0.074	0.71856	D	0.400	0.71401	0.308	0.27967	0.670479367014	0.66769	0.5034268943841254	0.50264	1.27933527	0.82483	0.668635368347	0.62643	T	0.110655	0.89833	T	0.152531	0.69504	D	0.0819533	0.75708	D	0.979839265346527	0.73038	D	0.978402	0.96278	D	0.5043588	0.67350	0.4655707	0.68986	0.5043588	0.67351	0.4655707	0.68987	-8.837	0.67148	D	.	.	0.134	0.37024	B	.;.;.;.;.	.;.;.;.;.	4.854802	0.79394	27.1	0.99919271386510533	0.98654	0.99011	0.89930	D	AEFBI	0.955716	0.97376	D	0.87244012582961	0.90348	10.36264	0.85430741323279	0.93266	11.93026	0.999999290407741	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	9.522000	0.97082	11.873000	0.98626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.392	0.94581	893	0.26510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	34	chr3	62403142	.	G	A	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.445;DP=410;ExcessHet=0;FS=5.428;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.411;SOR=1.237	GT:AD:DP:GQ:PL	0/1:47,42:89:99:964,0,1062	9	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	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,30:90:99:0|1:75730450_C_T:1079,0,2398:75730450	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,18:98:99:0|1:75736884_G_GA:515,0,3305:75736884	0	0	10	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	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:75736884_G_GA:506,0,3431:75736884	0	0	10	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	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,15:91:99:0|1:75736884_G_GA:401,0,3146:75736884	1	0	9	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	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,16:91:99:0|1:75736884_G_GA:446,0,3101:75736884	1	0	9	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	4700.28	186	chr3	75736981	.	T	C	4700.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.497;DP=1403;ExcessHet=4.5998;FS=0.574;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=52.94;MQRankSum=-7.6;QD=6.02;ReadPosRankSum=-0.695;SOR=0.76	GT:AD:DP:GQ:PL	0/1:72,18:90:99:242,0,1961	1	0	6	3
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	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:75,14:89:99:165,0,2017	2	0	8	0
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	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:80,25:105:99:359,0,2153	1	0	9	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	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,27:106:99:0|1:75737092_C_T:896,0,3223:75737092	0	0	10	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	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,27:106:99:0|1:75737092_C_T:896,0,3223:75737092	0	0	10	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	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,25:98:99:0|1:75737092_C_T:830,0,2990:75737092	0	0	10	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	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,21:90:99:0|1:75737092_C_T:674,0,2834:75737092	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,15:77:99:0|1:75737092_C_T:443,0,2558:75737092	1	0	9	0
chr3	75737432	75737432	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2191G:p.M731V,ZNF717:NM_001290208:exon5:c.A2191G:p.M731V,ZNF717:NM_001290209:exon5:c.A2041G:p.M681V	.	327	1193	2	0	0	2	0.000837521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.000798811264289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970408528	6.416e-06	6.841e-06	8.444e-06	4.334e-06	0.0002	3.02e-06	2.19e-06	9.22e-06	3.45e-06	0	0	0	5.567e-05	0	0.0002	1.85e-06	6.862e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.29720	N	.	.	.	3.32	0.06214	T	-0.1	0.08495	N	0.044	0.01658	-0.9609	0.39012	T	0.016	0.06425	T	9	0.07448462	0.11390	T	7.99E-4	0.00629	T	0.151	0.39764	.	.	0.0138822411134	0.00435	0.017995381911134797	0.01753	.	.	0.290602117777	0.09010	T	.	.	.	-0.191343	0.22062	T	-0.512627	0.21046	T	0.0411555045945869	0.03900	T	0.0953905	0.00711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02518	B	.	.	0.730558	0.10996	7.658	0.37201905252011835	0.02437	0.01152	0.04164	N	AEFDBHCI	0.073079	0.14605	N	-1.33806866314382	0.03250	0.1448652	-1.42357960019624	0.03018	0.1399707	0.99994101693999	0.47345	0.581397	0.33459	0	0.78372	0.99691	0	0.486962	0.07600	0	0.756233	0.99697	0	.	.	1.49	0.19	0.14406	-1.959000	0.01609	.	.	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2697:0.0:0.2747:0.4557	2.53	0.04415	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	110.43	215	chr3	75737432	.	T	C	110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=1539;ExcessHet=0;FS=2.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.5;MQRankSum=-4.266;QD=1.21;ReadPosRankSum=-0.175;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,9:91:99:0|1:75737432_T_C:122,0,3363:75737432	9	0	1	0
chr3	75737446	75737446	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2177A:p.R726Q,ZNF717:NM_001290208:exon5:c.G2177A:p.R726Q,ZNF717:NM_001290209:exon5:c.G2027A:p.R676Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00586424128426	.	.	.	.	.	.	.	.	.	.	0.0550177	1432	26028	rs76585055	7.841e-06	1.368e-05	1.126e-05	4.333e-06	0.0001	4.21e-06	3.08e-06	5.425e-05	3.543e-05	0	0	0	0.0001	0	0	3.7e-06	3.432e-05	0	1.971e-05	2.627e-05	2.569e-05	1.345e-05	7.245e-05	5.24e-06	2.45e-06	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	0	0	0	0.08	0.33585	T	0.461	0.12562	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.33	0.06138	T	-0.22	0.10480	N	0.052	0.02366	-0.9360	0.43241	T	0.006	0.01907	T	9	0.024029434	0.00647	T	0.005864	0.15251	T	0.071	0.20720	.	.	0.0138822411134	0.00435	0.008838497797171557	0.00847	.	.	0.222376331687	0.01452	T	.	.	.	-0.275709	0.11127	T	-0.633814	0.10126	T	0.0623682253880014	0.07538	T	0.164884	0.01516	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17953	B	.	.	0.469302	0.08392	5.143	0.67660026314013311	0.08421	0.00069	0.00489	N	AEFDBHCI	0.037930	0.05291	N	-2.09107590053193	0.00134	0.005734537	-2.15018099873588	0.00145	0.006361015	0.999998501794458	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.486962	0.07600	0	0.756233	0.99697	0	.	.	1.75	-3.5	0.04411	-4.902000	0.00201	.	.	-0.774000	0.03397	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3116:0.2557:0.0:0.4327	2.730	0.04903	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	.	.	.	.	.	.	.	.	0.05	164.43	231	chr3	75737446	.	C	T	164.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=1673;ExcessHet=0;FS=1.254;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.34;MQRankSum=-3.882;QD=1.75;ReadPosRankSum=0.065;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,11:94:99:0|1:75737432_T_C:176,0,3418:75737432	9	0	1	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,41:109:99:0|1:75737519_G_A:1479,0,2553:75737519	0	0	10	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	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,52:134:99:0|1:75737586_A_T:1937,0,3276:75737586	0	0	10	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	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,63:154:99:0|1:75737586_A_T:2371,0,3631:75737586	0	0	10	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	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,69:160:99:0|1:75737586_A_T:2623,0,3613:75737586	0	0	10	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	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,73:162:99:0|1:75737586_A_T:2797,0,3517:75737586	0	0	10	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	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,59:140:99:0|1:75737586_A_T:2234,0,3224:75737586	0	0	10	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	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,45:146:99:1|0:75737791_C_A:1545,0,3852:75737791	0	0	10	0
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	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,22:119:99:0|1:75737881_T_C:500,0,3962:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,19:116:99:0|1:75737881_T_C:459,0,4012:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,22:118:99:0|1:75737881_T_C:600,0,3965:75737881	1	0	9	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	548.1	208	chr3	75737947	.	CCT	C	548.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.567;DP=1609;ExcessHet=0.2348;FS=12.87;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.14;MQRankSum=-10.5;QD=2.1;ReadPosRankSum=2.75;SOR=1.486	GT:AD:DP:GQ:PL	0/1:115,15:130:99:284,0,4666	8	0	2	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	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,11:131:99:0|1:75737994_T_C:101,0,4980:75737994	1	0	9	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2104.98	122	chr3	75739165	.	C	T	2104.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.256;DP=1095;ExcessHet=10.3881;FS=18.333;InbreedingCoeff=-0.6665;MLEAC=8;MLEAF=0.4;MQ=56.69;MQRankSum=-7.997;QD=2.39;ReadPosRankSum=-0.323;SOR=1.354	GT:AD:DP:GQ:PL	0/1:89,17:106:99:153,0,2553	2	0	8	0
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	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:50,15:65:99:243,0,1325	1	0	9	0
chr3	93900833	93900833	C	T	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon7:c.G698A:p.R233K,PROS1:NM_001314077:exon8:c.G794A:p.R265K	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	79	1375	60	8	0	76	0.0268931	.	.	.	171093	Finnish_congenital_nephrotic_syndrome|Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive|Retinal_dystrophy|Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Protein_S_deficiency_disease|PROS1-related_disorder	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743|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:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.502	.	0.0020	0.00698882	0.0074	0.0006	0.0032	0	0.0024	0.0037	0.0099	0.0351	0.0066105	1022	154602	rs41267007	0.0055	0.0055	0.0047	0.0064	0.0338	0.0054	0.0054	0.0328	0.0324	0.0004	0.0025	0.0016	5.039e-05	0.0023	0.0184	0.0040	0.0056	0.0338	0.0031	0.0031	0.0026	0.0035	0.0366	0.0028	0.0027	0.0322	0.0305	0.0006	0	0.0014	0.0003	0	0.0022	0	0.0032	0.0014	0.0366	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.480529	0.12171	N	0.758803	0.999972	0.18612	N	0.58	0.15352	N	-2.22	0.87038	D	0.13	0.05503	N	0.094	0.07398	-0.8327	0.53127	T	0.221	0.58434	T	10	0.0106553435	0.00236	T	.	.	.	0.502	0.78475	.	.	0.679094201566	0.67636	0.3702398663570681	0.36937	0.232416631394	0.25783	0.252426564693	0.04027	T	0.512652	0.82801	D	-0.266576	0.12141	T	-0.13132	0.60861	T	0.00268860779094126	0.00028	T	0.672333	0.34027	T	0.22805142	0.45518	0.050635796	0.07989	0.23177832	0.45955	0.044609684	0.05819	-3.187	0.12322	T	0.09818819590687654	0.06992	0.084	0.11172	B	.;.;.;.;.;.	.;.;.;.;.;.	0.873033	0.12461	8.992	0.72373484607788618	0.09951	0.09182	0.14989	N	AEFI	0.180271	0.30757	N	-0.987964775886933	0.08860	0.4170622	-0.855430635375312	0.13157	0.6810129	1.10828034484068E-5	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.08	-0.333	0.12042	-0.162000	0.10000	0.805000	0.21696	0.434000	0.20985	0.157000	0.23755	0.999000	0.35428	0.703000	0.34233	0.1717:0.3795:0.2108:0.238	1.258	0.01874	609	0.67094	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013990	0.000000	0.012228	0.006849	0.000000	0.017241	0.006135	0.034091	0.05	2131.43	35	chr3	93900833	.	C	T	2131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.8;DP=492;ExcessHet=0;FS=0.559;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.43;MQRankSum=0.868;QD=11.97;ReadPosRankSum=-1.719;SOR=0.772	GT:AD:DP:GQ:PL	0/1:87,91:178:99:2143,0,2095	9	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,7:26:15:.:.:15,0,425:.	1	0	9	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134439:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_145753:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134437:exon3:c.1124_1129del:p.C376_A377del	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2199.39	34	chr3	111885119	.	TCCTGTG	T	2199.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.577;DP=453;ExcessHet=0;FS=6.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0.468;SOR=1.278	GT:AD:DP:GQ:PL	0/1:68,58:126:99:2211,0,2680	9	0	1	0
chr3	112974799	112974801	AAG	-	exonic	CD200R1	.	nonframeshift deletion	CD200R1:NM_138806:exon1:c.57_59del:p.F19del,CD200R1:NM_138939:exon1:c.57_59del:p.F19del,CD200R1:NM_138940:exon1:c.57_59del:p.F19del,CD200R1:NM_170780:exon1:c.57_59del:p.F19del	.	424	1067	30	1	0	32	0.0147738	.	.	.	3546958	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0068	0.0012	0.0016	0	0.0008	0.0075	0.0078	0.0166	0.0012679	33	26028	rs564728039	0.0065	0.0066	0.0061	0.0069	0.0169	0.0064	0.0064	0.0162	0.0159	0.0007	0.0026	0.0067	0	0.0011	0.0082	0.0066	0.0053	0.0169	0.0044	0.0045	0.0045	0.0044	0.0162	0.0042	0.0041	0.0133	0.0122	0.0008	0	0.0032	0.0066	0.0002	0.0008	0.0068	0.0069	0.0043	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011581	0.005051	0.005435	0.011696	0.000000	0.008621	0.015244	0.026515	0.05	854.39	34	chr3	112974798	.	TAAG	T	854.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=389;ExcessHet=0;FS=0.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.083;SOR=0.838	GT:AD:DP:GQ:PL	0/1:44,24:68:99:866,0,1725	9	0	1	0
chr3	119187797	119187797	C	A	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon3:c.C92A:p.A31E	.	431	1085	3	0	3	6	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.15241338006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.5e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.555e-05	0	0	0	0	0	0.0005	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000026	0.55875	D	0.067402	0.999559	0.81001	D	2.175	0.60977	M	0.55	0.81640	T	2.34	0.68298	N	0.944	0.95139	0.347	0.88295	D	0.641	0.87469	D	10	0.8703984	0.86303	D	0.152413	0.83383	D	0.747	0.91285	0.726	0.86024	0.619636564904	0.61655	0.8662946577778128	0.86594	0.297192746947	0.32101	0.677162706852	0.63862	T	0.821	0.95626	D	0.397975	0.89796	D	0.333887	0.89668	D	0.982354760169983	0.74442	D	0.218178	0.63332	T	0.9731712	0.98548	0.95209473	0.98524	0.9731712	0.98548	0.95209473	0.98525	-14.735	0.95200	D	.	.	0.121	0.94573	B	.;.;.;.;.	.;.;.;.;.	5.563140	0.92155	32	0.99632011722004277	0.76081	0.97001	0.72119	D	AEFGBI	0.662252	0.63219	D	0.728353102315445	0.81492	7.53467	0.716700904674869	0.83649	8.077	0.999999999928854	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.52	5.52	0.82153	5.635000	0.67514	5.863000	0.50453	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:1.0:0.0:0.0	18.052	0.89278	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	.	.	.	.	.	.	.	.	0.05	970.43	33	chr3	119187797	.	C	A	970.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.714;DP=439;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=1.25;SOR=0.584	GT:AD:DP:GQ:PL	0/1:69,43:112:99:982,0,1735	9	0	1	0
chr3	119544828	119544828	G	A	exonic	CD80	.	nonsynonymous SNV	CD80:NM_005191:exon3:c.C140T:p.T47M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0286175331131	7.7e-05	0.000199681	0.0002	0	0.0002	0	0.0003	0.0003	0	0.0001	0.000194	30	154602	rs201443429	0.0001	0.0001	9.801e-05	0.0001	0.0009	9.94e-05	9.348e-05	0.0003	0.0002	8.961e-05	0.0001	0	2.519e-05	0.0002	0.0009	0.0001	0.0002	0.0001	7.882e-05	7.875e-05	7.713e-05	8.058e-05	0.0004	4.495e-05	3.511e-05	7.304e-05	3.339e-05	2.407e-05	0	0	0	0	0.0002	0	0.0001	0	0.0004	0.157	0.23997	T	0.104	0.38596	T	0.902	0.49745	P	0.204	0.37039	B	0.010895	0.01289	N	2.688840	1	0.08975	N	0.935	0.23595	L	-0.36	0.68754	T	-0.28	0.11547	N	0.082	0.10483	-0.8954	0.48446	T	0.158	0.49027	T	10	0.17826036	0.32902	T	0.028618	0.51266	D	0.083	0.24192	.	.	0.770652981586	0.76855	0.3869759835637746	0.38612	0.272867755363	0.29797	0.300628989935	0.10495	T	0.404071	0.76064	T	-0.375359	0.03332	T	-0.484805	0.23937	T	0.012386960085579	0.00202	T	0.686431	0.29934	T	0.054456353	0.10451	0.053285964	0.08947	0.054456353	0.10450	0.053285964	0.08946	-3.653	0.20625	T	.	.	0.089	0.12276	B	.;.;.	.;.;.	0.969595	0.13466	9.975	0.88763299607334045	0.18236	0.00388	0.01954	N	AEFGBI	0.040358	0.05992	N	-0.967376306153801	0.09307	0.4399188	-1.09796672232112	0.07740	0.3777024	0.486195233825679	0.20825	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.08	-2.18	0.06643	-0.165000	0.09957	1.285000	0.25376	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.3039:0.0:0.5235:0.1727	5.428	0.15736	567	0.70732	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1590.43	39	chr3	119544828	.	G	A	1590.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=450;ExcessHet=0;FS=4.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.214;SOR=1.084	GT:AD:DP:GQ:PL	0/1:75,61:136:99:1602,0,1817	9	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	993.31	120	chr3	121697608	.	C	T	993.31	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.669;DP=961;ExcessHet=7.0302;FS=290.798;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.85;SOR=11.255	GT:AD:DP:GQ:PL	0/1:58,32:101:99:101,0,992	0	0	7	3
chr3	126644356	126644356	C	T	exonic	TXNRD3	.	unknown	UNKNOWN	.	428	1030	55	2	7	66	0.0278433	.	.	.	4086936	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	.	.	.	0.0015	0	0	0	0	0.0007	0	0.0025	0.0002005	31	154602	rs114444531	0.0005	0.0005	0.0004	0.0006	0.0017	0.0005	0.0005	0.0015	0.0014	0	5.602e-05	0	0	0.0001	0.0002	0.0005	0.0003	0.0017	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0005	0.0004	7.223e-05	0	6.545e-05	0	0	0	0	0.0006	0	0.0006	.	.	.	0.449	0.12993	T	.	.	.	.	.	.	0.161479	0.17650	N	0.624229	.	.	.	1.24	0.30952	L	.	.	.	.	.	.	0.064	0.03613	-0.9985	0.30339	T	0.123	0.42610	T	8	0.02256918	0.00567	T	.	.	.	0.041	0.10877	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.007512	0.06912	T	-0.599759	0.00146	T	-0.641073	0.09590	T	0.00617160756437325	0.00068	T	0.777722	0.41106	T	0.0664577	0.14300	0.0895416	0.20946	0.0664577	0.14300	0.0895416	0.20945	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	0.324220	0.06985	3.539	0.56788142825351928	0.05628	0.06577	0.12591	N	AEFBI	0.037733	0.05233	N	-0.721613812654366	0.15415	0.7766726	-0.855493224949913	0.13156	0.6809287	0.101627188008152	0.16385	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.83	-2.04	0.06937	0.236000	0.17745	-0.284000	0.10246	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.24:0.3331:0.0:0.4269	4.484	0.11193	869	0.31655	.;.;.;Glutaredoxin	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	7256.82	147	chr3	126644356	.	C	T	7256.82	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.585;DP=650;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=0.17;SOR=0.675	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1480,0,1540	9	0	1	0
chr3	126988613	126988613	G	T	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon1:c.G20T:p.S7I	.	405	1105	12	0	0	12	0.00540054	.	.	.	697806	PLXNA1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.0306953465408	0.0003	0.000599042	0.0012	0.0004	0	0	0	0.0007	0	0.0084	0.0004916	76	154602	rs375859367	0.0004	0.0004	0.0003	0.0005	0.0058	0.0003	0.0003	0.0043	0.0037	6.232e-05	5.311e-05	0.0037	5.196e-05	0	0.0058	0.0001	0.0007	0.0030	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0022	0.0018	2.405e-05	0	0.0001	0.0032	0	0	0	0.0002	0.0014	0.0035	0.026	0.46910	D	0.05	0.48080	T	.	.	.	.	.	.	0.624217	0.05774	U	1.391890	0.999962	0.52935	D	0	0.06538	N	2.94	0.09728	T	-0.93	0.24898	N	0.3	0.33904	-1.0008	0.29688	T	0.018	0.07423	T	8	0.008778155	0.00199	T	0.030695	0.52952	D	0.074	0.21613	.	.	0.229543500084	0.22568	0.5299194176901552	0.52915	0.837879280182	0.67888	0.543546915054	0.44947	T	0.137901	0.47110	T	-0.524806	0.00412	T	-0.531239	0.19162	T	0.00978345987330515	0.00129	T	0.426357	0.11459	T	0.07829908	0.17823	0.05266806	0.08721	0.07829908	0.17823	0.05266806	0.08721	-5.534	0.42185	T	.	.	0.108	0.20625	B	.	.	1.996285	0.25363	16.74	0.86886833396257601	0.16840	0.62281	0.31734	D	AEFDBCI	0.103141	0.20673	N	-0.654402605111544	0.17332	0.8909657	-0.680534052512014	0.17448	0.9277975	0.999709802540483	0.41986	0.695654	0.57023	0	0.601575	0.49859	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.31	1.28	0.20656	2.180000	0.42167	2.551000	0.33264	-0.826000	0.02916	0.889000	0.31176	0.662000	0.26021	0.000000	0.00833	0.2097:0.0:0.6106:0.1797	4.339	0.10539	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	1	0	0.006592	0.000000	0.005464	0.008772	0.000000	0.000000	0.006135	0.007576	0.05	461.43	47	chr3	126988613	.	G	T	461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=388;ExcessHet=0;FS=12.41;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.314;SOR=3.134	GT:AD:DP:GQ:PL	0/1:24,15:39:99:473,0,653	9	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,18:67:99:0|1:128055734_T_C:221,0,1149:128055734	1	0	9	0
chr3	129478141	129478141	C	T	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon9:c.C940T:p.R314W,IFT122:NM_001280546:exon10:c.C646T:p.R216W,IFT122:NM_018262:exon11:c.C1096T:p.R366W,IFT122:NM_001280541:exon12:c.C1249T:p.R417W,IFT122:NM_052989:exon12:c.C1273T:p.R425W,IFT122:NM_001280545:exon13:c.C823T:p.R275W,IFT122:NM_052985:exon13:c.C1426T:p.R476W	Cranioectodermal dysplasia 1, Autosomal recessive	0	1502	19	1	0	21	0.00694215	.	.	YES	272572	not_specified|Connective_tissue_disorder|not_provided|Cranioectodermal_dysplasia_1	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	0.289353280779	0.0044	0.00139776	0.0048	0.0004	0.0005	0	0.0039	0.0069	0.0066	0.0045	0.0046118	713	154602	rs61744639	0.0048	0.0048	0.0045	0.0050	0.0047	0.0047	0.0046	0.0046	0.0045	0.0004	0.0009	0.0319	0	0.0039	0.0035	0.0047	0.0049	0.0039	0.0045	0.0045	0.0047	0.0042	0.0070	0.0042	0.0041	0.0065	0.0063	0.0004	0.0011	0.0007	0.0343	0	0.0030	0.0034	0.0070	0.0038	0.0027	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	0.003868	0.34390	N	0.279446	0.999825	0.50225	D	2.63	0.76995	M	-1.45	0.80899	T	-5.98	0.91353	D	0.522	0.61341	0.490	0.90412	D	0.641	0.87450	D	10	0.009804696	0.00220	T	0.289353	0.90509	D	0.672	0.87868	.	.	0.952316176623	0.95181	0.5983418352486869	0.59765	0.780735406293	0.65281	0.546192884445	0.45320	T	0.715232	0.91908	D	-0.10792	0.35113	T	0.0815987	0.75685	D	0.0235890455863366	0.01094	T	0.989001	0.96320	D	0.49027917	0.66520	0.41508797	0.65633	0.43143672	0.62846	0.3999957	0.64548	-13.616	0.91742	D	0.6785857272398503	0.75465	0.189	0.47305	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.060131	0.84340	28.3	0.99913342734031829	0.98238	0.95229	0.63916	D	AEFDBI	0.799403	0.72567	D	0.67669343027995	0.78107	6.805063	0.607564439379775	0.75490	6.31943	0.999987175815797	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	4.700000	0.61489	2.750000	0.34528	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1377:0.8623:0.0:0.0	15.756	0.77793	496	0.76301	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.006546	0.005051	0.005435	0.002924	0.050000	0.017241	0.009146	0.011364	0.05	1329.43	33	chr3	129478141	.	C	T	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.477;DP=429;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.511;SOR=0.595	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1341,0,1285	9	0	1	0
chr3	130421334	130421334	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011A:p.G1671R,COL6A5:NM_153264:exon27:c.G5011A:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.167558637625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.152e-07	6.84e-07	1.411e-06	0	9.276e-07	0	0	.	.	0	0	0	0	0	0	9.276e-07	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	0.98446536	0.98642	D	0.167559	0.84589	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209801654965	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521075	0.94919	D	0.510712	0.94844	D	0.997662782669067	0.92113	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.385729	0.90245	31	0.99767051097524262	0.85583	0.94007	0.59833	D	AEFBI	0.669031	0.63661	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	.	.	.	.	.	.	.	.	0.05	180.48	36	chr3	130421334	.	G	A	180.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.689;DP=368;ExcessHet=0.7463;FS=106.729;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.653;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:99:0|1:130421334_G_A:117,0,1159:130421334	9	0	1	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	.	.	.	.	.	.	.	.	0.1429	1438.56	46	chr3	130421335	.	G	C	1438.56	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:99:0|1:130421334_G_A:117,0,1159:130421334	5	0	2	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	.	.	.	.	.	.	.	.	0.4286	1438.09	47	chr3	130421337	.	T	C	1438.09	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.036;DP=426;ExcessHet=8.3924;FS=409.477;InbreedingCoeff=-0.7391;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.651;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,6:34:97:0|1:130421334_G_A:97,0,1137:130421334	1	0	6	3
chr3	131498181	131498181	G	A	exonic	MRPL3	.	nonsynonymous SNV	MRPL3:NM_007208:exon4:c.C466T:p.R156C	Combined oxidative phosphorylation deficiency 9, Autosomal recessive	.	.	.	.	.	.	.	0.0365	0.23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0191709349317	7.7e-05	0.000199681	1.654e-05	0	0	0	0	3.009e-05	0	0	1.94e-05	3	154602	rs377532148	1.323e-05	1.437e-05	9.718e-06	1.676e-05	2.245e-05	8.46e-06	6.82e-06	6.66e-06	5.13e-06	0	2.245e-05	0.0001	0	1.875e-05	0	1.194e-05	1.68e-05	0	1.314e-05	1.313e-05	2.572e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.161	0.24564	T	0.17	0.30436	T	0.001	0.09854	B	0.002	0.18783	B	0.810146	0.06822	N	1.079600	1	0.08975	N	1.68	0.43186	L	0.94	0.43672	T	-1.12	0.28906	N	0.275	0.33030	-0.8758	0.50090	T	0.147	0.47201	T	10	0.091334134	0.15991	T	0.019171	0.41459	T	0.100	0.28662	.	.	0.716395873979	0.71390	0.40988900188175675	0.40904	0.0895148867953	0.10113	0.211817622185	0.00891	T	0.083334	0.37031	T	-0.217623	0.18319	T	-0.467511	0.25784	T	0.0326574704674471	0.02414	T	0.728627	0.34690	T	0.18802798	0.40283	0.092134714	0.21697	0.18802798	0.40283	0.092134714	0.21697	-6.061	0.46786	T	0.2602726813606049	0.35150	0.093	0.35372	B	.;.;.	.;.;.	2.261518	0.28895	17.95	0.78051962702274447	0.12135	0.02779	0.07484	N	AEFBI	0.043922	0.07004	N	-0.5876864898071	0.19317	1.010078	-0.878069367455083	0.12614	0.6498922	0.989113344680067	0.31727	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.96	-4.98	0.02794	0.361000	0.20003	0.568000	0.19578	-0.106000	0.15538	0.013000	0.18845	0.015000	0.20450	0.247000	0.23184	0.7485:0.0:0.2515:0.0	14.566	0.67771	879	0.29470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1412.43	33	chr3	131498181	.	G	A	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.653;DP=425;ExcessHet=0;FS=4.745;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.843;SOR=0.791	GT:AD:DP:GQ:PL	0/1:47,63:110:99:1424,0,944	9	0	1	0
chr3	133811157	133811157	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G368C:p.S123T,SRPRB:NM_021203:exon5:c.G368C:p.S123T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.016642363189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.054	0.47097	T	0.942	0.52977	P	0.644	0.52249	P	0.000026	0.55875	D	0.155855	1	0.81001	D	2.305	0.65957	M	2.48	0.14657	T	-1.32	0.32991	N	0.492	0.52563	-1.1749	0.00450	T	0.063	0.26279	T	10	0.5695572	0.65242	D	0.016642	0.37992	T	0.158	0.41098	0.531	0.63855	0.700125190599	0.69753	0.5778745801934572	0.57716	0.287765702557	0.31178	0.546562790871	0.45372	T	0.044418	0.26811	T	-0.000832996	0.51538	T	-0.238973	0.50899	T	0.659820669470881	0.38888	D	0.668433	0.27736	T	0.10739064	0.25393	0.16899224	0.38901	0.10739064	0.25393	0.16899224	0.38900	-7.988	0.60989	D	.	.	0.221	0.45161	B	.	.	4.407465	0.68149	25.2	0.98109481766435624	0.38343	0.99441	0.96068	D	AEFBI	0.873379	0.79571	D	0.636013805060949	0.75467	6.31093	0.666844554068866	0.79870	7.174737	0.999999999997681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.265000	0.77842	9.797000	0.81675	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.271	0.93996	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	177.65	36	chr3	133811157	.	G	C	177.65	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.617;DP=654;ExcessHet=0.2348;FS=228.829;InbreedingCoeff=-0.129;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.17;SOR=8.121	GT:AD:DP:GQ:PL	0/1:98,18:116:44:44,0,1949	8	0	2	0
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	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	.	.	.	.	.	.	.	.	0.15	278.94	82	chr3	133947398	.	T	C	278.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.818;DP=688;ExcessHet=0.7463;FS=151.401;InbreedingCoeff=-0.2079;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=0.194;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,12:71:31:0|1:133947396_G_A:31,0,1867:133947396	7	0	3	0
chr3	138131010	138131010	C	G	exonic	A4GNT	.	nonsynonymous SNV	A4GNT:NM_016161:exon2:c.G247C:p.V83L	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0802572324512	.	0.000199681	4.942e-05	0	0	0	0	2.997e-05	0	0.0002	4.53e-05	7	154602	rs540482278	6.156e-06	6.84e-06	4.084e-06	8.25e-06	0.0002	2.9e-06	2.1e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	2.698e-06	0	5.797e-05	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.082	0.41573	T	0.961	0.55431	D	0.658	0.52749	P	0.137901	0.18397	N	0.462884	1	0.08975	N	3.125	0.87999	M	-1.46	0.80983	T	-2.21	0.49684	N	0.443	0.48134	-0.5261	0.67688	T	0.449	0.78390	T	10	0.584348	0.66026	D	0.080257	0.73420	D	0.359	0.67962	0.792	0.91365	0.426039362998	0.42221	0.6724928103494722	0.67187	0.484552586258	0.47362	0.32797896862	0.14629	T	0.102597	0.41048	T	-0.156592	0.27285	T	-0.203031	0.54359	T	0.63013881444931	0.37624	D	0.847515	0.52873	T	0.1488196	0.33957	0.100270666	0.23970	0.1488196	0.33957	0.100270666	0.23969	-7.642	0.58604	D	.	.	0.448	0.62122	A	.	.	2.434904	0.31330	18.71	0.99017595035228401	0.50505	0.15492	0.18938	N	AEFDBI	0.115080	0.22642	N	-0.189135075957673	0.33587	1.90712	-0.344858451641945	0.26668	1.474532	0.00962908389145398	0.11886	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.27	3.09	0.34677	0.931000	0.28471	1.664000	0.27916	0.599000	0.40250	0.417000	0.26305	0.923000	0.28366	0.029000	0.12982	0.0:0.6945:0.0:0.3055	8.264	0.30966	572	0.70300	Glycosyltransferase, DXD sugar-binding motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1030.43	33	chr3	138131010	.	C	G	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.19;DP=395;ExcessHet=0;FS=5.428;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.127;SOR=1.237	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1042,0,1159	9	0	1	0
chr3	146459949	146459949	T	A	exonic	PLSCR2	.	nonsynonymous SNV	PLSCR2:NM_001199979:exon2:c.A163T:p.I55F,PLSCR2:NM_001199978:exon4:c.A175T:p.I59F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0019	0.00339457	0.0006	0.0072	8.804e-05	0	0	0	0	0	0.0006404	99	154602	rs149831493	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0070	0.0067	0.0078	0.0002	0	0	0	0.0002	3.597e-06	0.0005	2.319e-05	0.0017	0.0017	0.0018	0.0017	0.0062	0.0015	0.0015	0.0055	0.0053	0.0062	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	0.901	0.02418	T	0.706	0.05602	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	1.98	0.21865	T	1.15	0.01151	N	0.031	0.00770	-0.9737	0.36409	T	0.013	0.05273	T	9	0.006021172	0.00135	T	.	.	.	0.014	0.01968	.	.	0.144782658237	0.14088	0.08545393722551058	0.08479	0.315783590602	0.33856	0.417657464743	0.27515	T	0.002519	0.01914	T	-0.738614	0.00021	T	-0.830576	0.01252	T	0.00280420013172718	0.00029	T	0.474053	0.15352	T	0.030689118	0.02777	0.044176877	0.05666	0.030689118	0.02777	0.044176877	0.05665	-2.824	0.09345	T	.	.	0.048	0.00165	B	.;.	.;.	0.314580	0.06893	3.432	0.21187677234593669	0.00796	0.00030	0.00276	N	AEFGI	0.017446	0.00458	N	-1.30174850820024	0.03655	0.1636826	-1.33377336768829	0.04000	0.187811	0.0254046436096863	0.13646	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	3.55	0.958	0.18741	0.263000	0.18247	-5.077000	0.01859	-1.932000	0.00498	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4726:0.0:0.1148:0.4127	3.007	0.05665	881	0.29269	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	712.43	41	chr3	146459949	.	T	A	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=433;ExcessHet=0;FS=5.131;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0.123;SOR=1.033	GT:AD:DP:GQ:PL	0/1:71,34:105:99:724,0,1609	9	0	1	0
chr3	149199792	149199792	C	A	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon8:c.G1421T:p.S474I	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	0.554742124436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.083670	1	0.81001	D	.	.	.	-5.73	0.99303	D	-5.2	0.84175	D	0.932	0.93723	1.040	0.97919	D	0.986	0.99568	D	10	0.9222348	0.91576	D	0.554742	0.95910	D	0.838	0.94914	0.523	0.62668	0.986592203821	0.98644	0.9189544463268836	0.91871	0.540615076507	0.51250	0.482210099697	0.36361	T	0.40248	0.75949	T	0.527111	0.95066	D	0.519382	0.94993	D	0.997239351272583	0.91078	D	0.840916	0.51656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.85325	P	.;.	.;.	4.287778	0.65363	24.8	0.99610653576842512	0.74813	0.99203	0.92752	D	AEFDGBI	0.930795	0.91865	D	0.845615716938358	0.88857	9.738943	0.731918856450484	0.84800	8.39471	0.999999999999766	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.232529	0.04895	2	0.662026	0.63922	0	.	.	5.79	5.79	0.91751	3.876000	0.55828	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	0.0:1.0:0.0:0.0	17.829	0.88588	898	0.25240	.;.	.	.	.	.	.	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	1205.43	33	chr3	149199792	.	C	A	1205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=429;ExcessHet=0;FS=0.723;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.329;SOR=0.776	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1217,0,1334	9	0	1	0
chr3	149741679	149741679	C	T	exonic	COMMD2	.	nonsynonymous SNV	COMMD2:NM_016094:exon5:c.G442A:p.V148M	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.010334818708	0.0036	0.000998403	0.0032	0.0013	0.0026	0	0.0002	0.0048	0.0022	0.0018	0.0002305	6	26028	rs148182261	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0044	0.0052	0.0052	0.0010	0.0031	0.0012	0	0.0004	0.0050	0.0053	0.0048	0.0019	0.0034	0.0034	0.0038	0.0029	0.0055	0.0031	0.0030	0.0050	0.0048	0.0012	0	0.0044	0.0006	0	0.0005	0	0.0055	0.0033	0.0015	0.107	0.29554	T	0.085	0.41074	T	0.363	0.33965	B	0.117	0.32014	B	0.000750	0.42006	D	0.236824	1.000	0.50806	D	1.925	0.51371	L	2.83	0.10771	T	-1.38	0.34198	N	0.235	0.26475	-1.0534	0.13466	T	0.017	0.06998	T	10	0.009713143	0.00218	T	0.010335	0.26741	T	0.068	0.19811	.	.	0.206339911435	0.20273	0.4787639907168906	0.47796	0.663642696589	0.59027	0.540998578072	0.44585	T	0.071297	0.34172	T	-0.509788	0.00503	T	-0.49709	0.22650	T	0.00915085435720111	0.00115	T	0.859914	0.55237	D	0.055687983	0.10857	0.09599147	0.22788	0.055687983	0.10856	0.09599147	0.22787	-8.17	0.62223	D	.	.	0.126	0.26794	B	.	.	3.391021	0.46947	22.4	0.99018905064779783	0.50527	0.91585	0.53837	D	AEFBI	0.141364	0.26351	N	0.0136838314858404	0.42478	2.560067	0.128448531586511	0.46011	2.854192	5.21368158721951E-4	0.07225	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.76	3.6	0.40374	1.565000	0.35993	2.656000	0.33848	0.599000	0.40250	0.885000	0.31090	0.993000	0.31925	1.000000	0.97212	0.0:0.7284:0.1328:0.1388	9.022	0.35368	743	0.52768	COMM domain|COMM 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	0.004545	0.000000	0.005435	0.002924	0.000000	0.000000	0.009317	0.000000	0.05	1040.43	43	chr3	149741679	.	C	T	1040.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.823;DP=440;ExcessHet=0;FS=2.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=2.23;SOR=0.449	GT:AD:DP:GQ:PL	0/1:28,44:72:99:1052,0,640	9	0	1	0
chr3	149790882	149790882	G	A	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon2:c.C133T:p.R45W,ANKUB1:NM_001315506:exon2:c.C133T:p.R45W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0046	0.00319489	0.0024	0.0155	0	0	0	0	0	0.0023	0.0005369	83	154602	rs144785380	0.0004	0.0004	0.0005	0.0004	0.0125	0.0004	0.0004	0.0115	0.0111	0.0125	0.0004	0	0	0	0.0004	6.766e-05	0.0008	0.0012	0.0038	0.0038	0.0040	0.0036	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0014	0	0	0	0	5.881e-05	0.0014	0.0008	0.144	0.25664	T	0.091	0.40110	T	.	.	.	.	.	.	0.601145	0.10957	N	0.796847	0.998179	0.22310	N	1.01	0.25309	L	1.79	0.25509	T	-1.88	0.43906	N	0.178	0.19190	-1.0070	0.27850	T	0.013	0.05177	T	10	0.004117042	0.00081	T	.	.	.	0.028	0.06331	.	.	0.0551355673512	0.04727	0.3555955417432692	0.35473	.	.	0.187584400177	0.00185	T	0.012557	0.11015	T	-0.590795	0.00166	T	-0.609088	0.12059	T	0.00883691360091187	0.00109	T	0.689731	0.29897	T	0.056273308	0.11049	0.055084806	0.09597	0.056273308	0.11049	0.055084806	0.09596	-6.376	0.49759	T	.	.	0.086	0.10497	B	.;.	.;.	2.618214	0.34018	19.51	0.9793254282208077	0.36971	0.09810	0.15481	N	AEFDBHCI	0.117310	0.22986	N	-0.904277692287703	0.10741	0.5147998	-0.761755983302642	0.15434	0.8116978	0.999890277695961	0.45129	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.85	0.127	0.14028	0.411000	0.20836	-0.272000	0.10340	-0.154000	0.11915	0.038000	0.20882	0.000000	0.08366	0.987000	0.62547	0.1641:0.0:0.2369:0.599	6.505	0.21387	888	0.27761	.;Ubiquitin domain|Ubiquitin 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	.	.	.	.	.	.	.	.	0.05	1467.43	36	chr3	149790882	.	G	A	1467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=429;ExcessHet=0;FS=3.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.377;SOR=1.093	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1479,0,1404	9	0	1	0
chr3	149983194	149983194	C	T	exonic	TMEM183B	.	nonsynonymous SNV	TMEM183B:NM_001079809:exon1:c.G115A:p.V39M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00219649	0.0008	0.0097	8.675e-05	0	0	1.512e-05	0	0	0.0007244	112	154602	rs111318718	0.0002	0.0002	0.0003	0.0002	0.0085	0.0002	0.0002	0.0077	0.0074	0.0085	0.0002	0	2.519e-05	0	0.0003	7.194e-06	0.0004	3.478e-05	0.0026	0.0026	0.0027	0.0025	0.0091	0.0024	0.0023	0.0083	0.0080	0.0091	0	0.0012	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1491.43	34	chr3	149983194	.	C	T	1491.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.387;DP=500;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=1.24;QD=9.26;ReadPosRankSum=-1.488;SOR=0.611	GT:AD:DP:GQ:PL	0/1:92,69:161:99:1503,0,2099	9	0	1	0
chr3	154122063	154122063	C	T	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.C71T:p.P24L,ARHGEF26:NM_001251963:exon2:c.C71T:p.P24L,ARHGEF26:NM_015595:exon2:c.C71T:p.P24L	.	426	1082	13	1	0	15	0.00688389	.	.	.	2367585	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.0540427132487	0.0003	0.000798722	0.0004	0	0.0009	0	0	0.0005	0	0.0002	0.0003816	59	154602	rs188383913	0.0003	0.0003	0.0003	0.0003	0.0056	0.0003	0.0003	0.0040	0.0035	0.0003	0.0015	0.0005	0	0	0.0056	0.0003	0.0006	0.0002	0.0006	0.0006	0.0005	0.0006	0.0027	0.0005	0.0004	0.0021	0.0019	0.0001	0	0.0027	0.0009	0	0	0.0034	0.0004	0.0014	0	0.012	0.57480	D	0.01	0.65728	D	0.267	0.31683	B	0.086	0.29521	B	0.096924	0.20052	N	0.509097	0.996986	0.23790	N	2.215	0.62545	M	0.22	0.64630	T	-1.73	0.53898	N	0.527	0.55626	-0.9201	0.45540	T	0.120	0.41821	T	10	0.011167675	0.00245	T	0.054043	0.65705	D	0.097	0.27909	.	.	0.290590437066	0.28656	0.20251759022430618	0.20168	0.417416344241	0.42361	0.598193407059	0.52649	T	0.004718	0.04133	T	-0.371582	0.03515	T	-0.356969	0.38403	T	0.0390953934953935	0.03527	T	0.848915	0.53103	T	0.1263729	0.29601	0.087981336	0.20486	0.1263729	0.29601	0.087981336	0.20485	-3.668	0.23188	T	.	.	0.087	0.30476	B	.;.;.;.	.;.;.;.	3.738933	0.53529	23.4	0.99739609883945768	0.83409	0.10553	0.16028	N	AEFDBCIJ	0.059685	0.11290	N	-0.474700130831822	0.22911	1.226717	-0.458798426965884	0.23300	1.269879	0.999999999448277	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.54	4.54	0.55220	0.457000	0.21588	5.854000	0.50366	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.976000	0.56436	0.1748:0.8252:0.0:0.0	11.926	0.52100	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.013587	0.011696	0.000000	0.008621	0.012195	0.000000	0.05	1712.43	43	chr3	154122063	.	C	T	1712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.275;DP=862;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.07;SOR=0.714	GT:AD:DP:GQ:PL	0/1:50,69:119:99:1724,0,1193	9	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1833.49	139	chr3	155853645	.	G	C	1833.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.101;DP=1064;ExcessHet=4.5998;FS=169.181;InbreedingCoeff=-0.4661;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.03;ReadPosRankSum=1.44;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,15:88:8:0|1:155853644_G_C:8,0,2233:155853644	3	0	6	1
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S,SLC33A1:NM_001363883:exon1:c.C352T:p.P118S,SLC33A1:NM_004733:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	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	.	.	.	.	.	.	.	.	0.15	330.74	139	chr3	155853646	.	G	A	330.74	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.576;DP=785;ExcessHet=0.7463;FS=110.027;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=1.52;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,15:88:8:0|1:155853644_G_C:8,0,2233:155853644	7	0	3	0
chr3	161250296	161250296	G	A	exonic	NMD3	.	nonsynonymous SNV	NMD3:NM_001320227:exon15:c.G1351A:p.A451T,NMD3:NM_015938:exon15:c.G1351A:p.A451T	.	468	1053	1	0	0	1	0.000474608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00601221403572	0.0028	0.00219649	0.0010	0.0099	0.0008	0	0	3.042e-05	0.0011	0	0.0008603	133	154602	rs111422658	0.0002	0.0003	0.0003	0.0002	0.0081	0.0002	0.0002	0.0073	0.0070	0.0081	0.0006	0.0001	0	0	0.0003	2.175e-05	0.0005	4.666e-05	0.0024	0.0024	0.0026	0.0023	0.0083	0.0022	0.0022	0.0076	0.0073	0.0083	0	0.0010	0	0	0	0	8.83e-05	0.0033	0	0.08	0.36113	T	0.1	0.38891	T	0.0	0.02946	B	0.001	0.06944	B	0.000414	0.44736	N	0.260464	0.991062	0.41300	D	0.55	0.14455	N	2.11	0.19860	T	0.0	0.07008	N	0.194	0.21319	-1.0791	0.07524	T	0.025	0.10509	T	10	0.0039411485	0.00076	T	0.006012	0.15698	T	0.052	0.14661	.	.	0.117506650769	0.11410	0.13950970930916146	0.13873	0.0743008846155	0.08332	0.372317761183	0.21164	T	0.031788	0.22201	T	-0.537899	0.00345	T	-0.53804	0.18489	T	0.0215113222196671	0.00855	T	0.823318	0.48387	T	0.029957144	0.02577	0.06489935	0.13074	0.029957144	0.02577	0.06489935	0.13074	-3.641	0.18452	T	.	.	0.076	0.15070	B	.;.;.	.;.;.	1.475410	0.19003	14.04	0.95572621149535308	0.27267	0.31441	0.24338	N	AEFDBIJ	0.186520	0.31383	N	-0.713647174504281	0.15638	0.7898339	-0.605492655287743	0.19351	1.037875	0.931278525575603	0.27041	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.07	2.27	0.27501	0.403000	0.20706	2.620000	0.33629	-0.127000	0.13314	0.108000	0.22953	1.000000	0.68203	0.996000	0.76049	0.2248:0.0:0.7752:0.0	10.002	0.41105	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1223.43	34	chr3	161250296	.	G	A	1223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=423;ExcessHet=0;FS=1.535;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.228;SOR=0.551	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1235,0,1257	9	0	1	0
chr3	165059224	165059224	G	A	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon11:c.C1222T:p.L408F	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.130088542314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.16	0.31427	T	0.28	0.32073	B	0.288	0.40614	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.35	0.33515	L	-3.07	0.92508	D	-1.95	0.45222	N	0.791	0.78737	0.308	0.87683	D	0.725	0.90590	D	10	0.7482605	0.75447	D	0.130089	0.81222	D	0.627	0.85615	0.71	0.84601	0.644783390839	0.64184	0.5766526074503555	0.57594	0.195250047841	0.21862	0.529772222042	0.43001	T	0.343134	0.71181	T	0.13436	0.67785	D	-0.0447782	0.67378	D	0.975477278232574	0.70951	D	0.676232	0.28483	T	0.64327395	0.75006	0.44615185	0.67739	0.64327395	0.75007	0.44615185	0.67739	-6.902	0.53314	T	.	.	0.466	0.62999	A	.	.	3.048753	0.40899	21.3	0.99795213849335695	0.88017	0.98754	0.86424	D	AEFI	0.935272	0.92990	D	0.210870460664985	0.51724	3.351537	0.333469466933853	0.57516	3.917734	0.999999081021576	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.748000	0.83977	5.875000	0.50578	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	19.576	0.95438	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	42.43	41	chr3	165059224	.	G	A	42.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.663;DP=782;ExcessHet=0;FS=123.355;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.994;SOR=9.19	GT:AD:DP:GQ:PL	0/1:96,30:132:54:54,0,1914	9	0	1	0
chr3	170391046	170391046	T	A	exonic	SKIL	.	nonsynonymous SNV	SKIL:NM_001145097:exon5:c.T1544A:p.M515K,SKIL:NM_001248008:exon5:c.T1682A:p.M561K,SKIL:NM_005414:exon6:c.T1682A:p.M561K,SKIL:NM_001145098:exon7:c.T1622A:p.M541K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.0731110632567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.023	0.57104	D	0.369	0.49136	B	0.055	0.43123	B	0.000003	0.62929	D	0.141386	0.992758	0.44011	D	1.1	0.28011	L	-2.8	0.91134	D	-1.45	0.35597	N	0.755	0.75374	0.073	0.83669	D	0.583	0.85021	D	10	0.54011893	0.63671	D	0.073111	0.71706	D	0.478	0.76946	0.389	0.41115	0.957082704375	0.95662	0.1796630574896897	0.17885	0.369167158329	0.38448	0.758547067642	0.75713	T	0.465587	0.80067	T	0.179726	0.72017	D	0.0203873	0.71654	D	0.62943862605638	0.37594	D	0.857114	0.55771	D	0.5711622	0.71124	0.55920494	0.74498	0.5711622	0.71125	0.55920494	0.74499	-1.509	0.03081	T	.	.	0.415	0.64108	A	.;.;.;.	.;.;.;.	2.736417	0.35835	20.0	0.96293995319853831	0.29325	0.99015	0.89987	D	AEFBI	0.614249	0.60164	D	0.0339176012928578	0.43403	2.633962	0.148840552295434	0.47081	2.94371	0.999715917979301	0.42101	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.96	5.96	0.96695	5.505000	0.66698	7.826000	0.69930	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.0:1.0	16.428	0.83664	845	0.36510	.;.;.;.	.	.	.	.	.	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	791.43	33	chr3	170391046	.	T	A	791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.377;SOR=0.613	GT:AD:DP:GQ:PL	0/1:26,31:57:99:803,0,641	9	0	1	0
chr3	172913684	172913684	G	A	exonic	SPATA16	.	nonsynonymous SNV	SPATA16:NM_031955:exon10:c.C1564T:p.R522C	.	19	1502	1	0	0	1	0.000332779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0143880647917	.	.	4.142e-05	0	0.0002	0	0	4.52e-05	0	0	4.53e-05	7	154602	rs762334045	3.421e-05	3.557e-05	4.766e-05	2.063e-05	0.0002	2.632e-05	2.375e-05	2.201e-05	1.942e-05	0	6.709e-05	0	0	0	0.0002	3.058e-05	0.0002	2.319e-05	5.264e-05	5.256e-05	3.857e-05	6.738e-05	0.0002	2.56e-05	1.832e-05	5.295e-05	2.838e-05	0	0	0.0002	0	0	0	0	7.354e-05	0	0	0.042	0.41637	D	0.057	0.46406	T	0.219	0.30243	B	0.034	0.22546	B	0.000113	0.50451	D	0.087777	0.993773	0.42049	D	2.52	0.73523	M	1.76	0.25996	T	-1.68	0.40082	N	0.382	0.42345	-1.0885	0.05787	T	0.039	0.16849	T	10	0.1573649	0.29616	T	0.014388	0.34475	T	0.108	0.30607	0.293	0.25560	0.579660715472	0.57637	0.41724353300516226	0.41640	0.569911218611	0.53157	0.403659045696	0.25578	T	0.026675	0.19691	T	-0.182971	0.23295	T	-0.324755	0.42050	T	0.286437094211578	0.24441	T	0.830717	0.49671	T	0.10258988	0.24243	0.092737354	0.21870	0.10258988	0.24243	0.092737354	0.21869	-5.442	0.41321	T	0.2317333923796596	0.31360	0.096	0.15564	B	.	.	3.937181	0.57590	23.9	0.99878306680473783	0.95491	0.82928	0.42093	D	AEFGBHCI	0.685357	0.64739	D	0.0328437394570617	0.43355	2.629971	0.2132276807739	0.50580	3.248612	0.999847514635074	0.43971	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.47	4.59	0.56297	4.596000	0.60764	5.246000	0.48078	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0792:0.0:0.9208:0.0	11.971	0.52354	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	0.001014	0.005155	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1206.43	33	chr3	172913684	.	G	A	1206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.685;DP=396;ExcessHet=0;FS=2.738;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.024;SOR=0.457	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1218,0,727	9	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.1	816.14	33	chr3	179240022	.	T	C	816.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.31;DP=335;ExcessHet=0.2348;FS=5.395;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.99;MQRankSum=0;QD=12.56;ReadPosRankSum=1.27;SOR=1.416	GT:AD:DP:GQ:PL	0/1:18,18:36:99:512,0,423	8	0	2	0
chr3	185192591	185192591	A	G	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.T1519C:p.Y507H,EHHADH:NM_001966:exon7:c.T1807C:p.Y603H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0252394590166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.11298	T	0.516	0.12632	T	0.653	0.40782	P	0.308	0.41327	B	0.002623	0.36208	N	0.310649	1	0.81001	D	2.985	0.85602	M	-0.54	0.75438	T	-1.99	0.45949	N	0.556	0.66358	-0.6686	0.61892	T	0.276	0.64814	T	10	0.5674024	0.65128	D	0.025239	0.48216	D	0.316	0.63799	0.561	0.68093	0.346085882481	0.34212	0.830890209518853	0.83048	0.269182839998	0.29436	0.569500803947	0.48607	T	0.172008	0.52034	T	0.0896907	0.63154	D	-0.108942	0.62696	T	0.86494243144989	0.51508	D	0.79582	0.43907	T	0.17756888	0.38730	0.11967839	0.28885	0.17756888	0.38730	0.11967839	0.28884	-4.808	0.36829	T	0.3851453445566299	0.47905	0.379	0.61352	A	.;.	.;.	3.529860	0.49522	22.8	0.99097028424753497	0.52371	0.99214	0.92914	D	AEFDBI	0.963285	0.98513	D	0.224769576947724	0.52402	3.414574	0.337658555497852	0.57766	3.943781	0.999999426297087	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.91	5.91	0.95240	8.890000	0.92121	10.967000	0.84504	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	1.0:0.0:0.0:0.0	16.348	0.83004	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	.	.	.	.	.	.	.	.	0.05	2481.43	119	chr3	185192591	.	A	G	2481.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=1.24;SOR=0.662	GT:AD:DP:GQ:PL	0/1:113,97:210:99:2493,0,2812	9	0	1	0
chr3	188609657	188609657	G	A	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001375465:exon5:c.G926A:p.G309D,LPP:NM_001375455:exon6:c.G926A:p.G309D,LPP:NM_001375456:exon6:c.G926A:p.G309D,LPP:NM_001375458:exon6:c.G926A:p.G309D,LPP:NM_001375459:exon6:c.G926A:p.G309D,LPP:NM_001375461:exon6:c.G926A:p.G309D,LPP:NM_001375463:exon6:c.G926A:p.G309D,LPP:NM_005578:exon6:c.G926A:p.G309D,LPP:NM_001167671:exon7:c.G926A:p.G309D,LPP:NM_001375457:exon7:c.G926A:p.G309D,LPP:NM_001375460:exon7:c.G926A:p.G309D,LPP:NM_001375462:exon7:c.G926A:p.G309D,LPP:NM_001375464:exon7:c.G926A:p.G309D	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	2	1501	18	1	0	20	0.00661813	.	.	.	4013934	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.199	0.0367342503907	0.0015	0.00359425	0.0016	0.0002	0.0013	0	0.0011	0.0021	0.0011	0.0019	0.00174	269	154602	rs146859876	0.0017	0.0017	0.0016	0.0018	0.0128	0.0017	0.0016	0.0105	0.0096	0.0004	0.0013	7.652e-05	5.038e-05	0.0012	0.0128	0.0017	0.0017	0.0030	0.0017	0.0017	0.0018	0.0016	0.0056	0.0015	0.0014	0.0040	0.0034	0.0002	0	0.0029	0	0	0.0007	0.0136	0.0023	0.0028	0.0056	0.0	0.91255	D	0.235	0.59159	T	1.0	0.90584	D	1.0	0.97372	D	0.005648	0.32621	N	0.343130	0.999961	0.54805	D	2.125	0.59049	M	1.34	0.44461	T	-3.73	0.70920	D	0.654	0.66443	-0.5845	0.65439	T	0.267	0.63823	T	10	0.0089096725	0.00202	T	0.036734	0.57180	D	0.199	0.48268	.	.	0.336933722576	0.33308	0.5263558457889815	0.52559	.	.	0.482655346394	0.36423	T	0.123994	0.46496	T	-0.277763	0.10906	T	-0.176379	0.56858	T	0.0506788122094624	0.05619	T	0.813919	0.46746	T	0.12770984	0.29877	0.22660209	0.47643	0.16229701	0.36296	0.25691986	0.51399	-5.619	0.42965	T	.	.	0.412	0.60259	A	.;.;.;.;.	.;.;.;.;.	3.625113	0.51325	23.1	0.99848330620631875	0.92750	0.99145	0.91890	D	AEFBI	0.705509	0.66087	D	0.537573026915671	0.69327	5.341443	0.527227981335329	0.69829	5.416461	0.999999998551546	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.71	4.83	0.61880	5.905000	0.69631	3.773000	0.39761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.8481:0.1519	14.917	0.70452	798	0.45050	.;.;.;.;.	.	.	.	.	.	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	0.009567	0.010101	0.009511	0.020468	0.000000	0.000000	0.003049	0.011364	0.05	1816.43	43	chr3	188609657	.	G	A	1816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.982;DP=559;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=2.51;SOR=0.955	GT:AD:DP:GQ:PL	0/1:54,75:129:99:1828,0,1404	9	0	1	0
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1046.67	23	chr3	195779400	.	A	*	1046.67	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.862;DP=2049;ExcessHet=3.8694;FS=1.938;InbreedingCoeff=-0.243;MLEAC=2;MLEAF=0.125;MQ=58.12;MQRankSum=-12.37;QD=0.87;ReadPosRankSum=2.36;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:261,172:433:99:.:.:6266,0,10359:.	6	0	2	2
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	48836.3	20	chr3	195779882	.	G	*	48836.3	.	AC=2;AF=0.143;AN=14;DP=2237;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.214;MQ=59.46;MQRankSum=-0.186;QD=25.77;SOR=0.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,150:363:99:1|0:195779846_AGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACGTGTGGATG_A:11875,6357,8622:195779846	5	0	2	3
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3923.74	328	chr3	195782507	.	G	*	3923.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.421;DP=4162;ExcessHet=0.7463;FS=1.13;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=54.61;MQRankSum=-10.59;QD=3.43;ReadPosRankSum=3.35;SOR=0.769	GT:AD:DP:GQ:PL	0/1:212,200:414:99:6982,0,11029	8	0	2	0
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5773.97	686	chr3	195784575	.	C	*	5773.97	.	AC=3;AF=0.3;AN=10;BaseQRankSum=2.17;DP=6145;ExcessHet=2.5225;FS=1.103;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.4;MQ=57.09;MQRankSum=-9.307;QD=2.62;ReadPosRankSum=1.3;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,288:580:99:1|0:195784574_GC_G:15280,0,8668:195784574	2	0	3	5
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5563.83	658	chr3	195784580	.	T	*	5563.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.239;DP=6780;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.286;MQ=57.15;MQRankSum=-11.73;QD=2.19;ReadPosRankSum=0.293;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:514,293:807:99:0|1:195784574_GC_G:7283,0,18589:195784574	4	0	3	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5461.83	652	chr3	195784583	.	C	*	5461.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.267;DP=6748;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.286;MQ=57.09;MQRankSum=-11.89;QD=2.16;ReadPosRankSum=0.914;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:514,293:807:99:0|1:195784574_GC_G:7283,0,18589:195784574	4	0	3	3
chr3	195784603	195784603	A	0	exonic	MUC4	.	.	.	.	606	833	68	9	6	92	0.0490868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7463.08	560	chr3	195784603	.	A	*	7463.08	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.895;DP=5841;ExcessHet=2.1085;FS=0;InbreedingCoeff=-0.1776;MLEAC=4;MLEAF=0.286;MQ=57.1;MQRankSum=-7.111;QD=2.84;ReadPosRankSum=0.069;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:300,288:589:99:.:.:8022,0,11606:.	4	0	3	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	38825.6	566	chr3	195784652	.	C	*	38825.6	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.788;DP=5363;ExcessHet=0.218;FS=0.542;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.64;MQRankSum=-9.751;QD=18.23;ReadPosRankSum=0.127;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,288:649:99:1|0:195784574_GC_G:14794,0,11788:195784574	4	0	2	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	39296.4	576	chr3	195784654	.	T	*	39296.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=5402;ExcessHet=0.218;FS=0.544;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.71;MQRankSum=-9.883;QD=18.23;ReadPosRankSum=0.361;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,288:649:99:1|0:195784574_GC_G:14794,0,11788:195784574	4	0	2	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	39365.4	576	chr3	195784655	.	C	*	39365.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.19;DP=5404;ExcessHet=0.218;FS=0.541;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.71;MQRankSum=-9.837;QD=18.24;ReadPosRankSum=-0.003;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,288:649:99:1|0:195784574_GC_G:14794,0,11788:195784574	4	0	2	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	67533.5	972	chr3	195784719	.	A	*	67533.5	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.204;DP=7235;ExcessHet=0.7136;FS=0;InbreedingCoeff=0.0111;MLEAC=1;MLEAF=0.1;MQ=57.28;MQRankSum=-5.577;QD=20.43;ReadPosRankSum=-2.656;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,713:986:99:1|0:195784574_GC_G:15672,0,7351:195784574	4	0	1	5
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2334.33	946	chr3	195785314	.	A	AC	2334.33	.	AC=2;AF=0.111;AN=18;BaseQRankSum=2.52;DP=6620;ExcessHet=0.2348;FS=5.425;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=57.4;MQRankSum=0.686;QD=2.05;ReadPosRankSum=2.24;SOR=1.181	GT:AD:DP:GQ:PL	0/1:406,78:484:99:1735,0,15665	7	0	2	1
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	218415.0	948	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	218415.0	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.131;DP=6769;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=2;MLEAF=0.1;MQ=57.28;MQRankSum=-0.476;QD=34.33;ReadPosRankSum=1.04;SOR=0.431	GT:AD:DP:GQ:PL	0/1:0,78:484:99:18471,12561,15662	8	0	2	0
chr3	196660764	196660764	C	G	exonic	NRROS	.	nonsynonymous SNV	NRROS:NM_198565:exon3:c.C1121G:p.P374R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0222245998074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.20759	T	0.412	0.14456	T	0.896	0.49324	P	0.776	0.57120	P	0.000438	0.44522	D	0.240807	1	0.08975	N	.	.	.	0.45	0.56446	T	-1.79	0.42191	N	0.557	0.58202	-1.0461	0.15505	T	0.106	0.38685	T	10	0.5353746	0.63417	D	0.022225	0.45097	T	0.206	0.49396	0.345	0.33950	0.437634105008	0.43384	0.5129391813555176	0.51215	1.12298111815	0.78345	0.362796187401	0.19792	T	0.058101	0.30750	T	-0.0780772	0.40026	T	-0.349929	0.39213	T	0.510681331157684	0.33022	D	0.739826	0.35853	T	0.04607111	0.07647	0.05877479	0.10917	0.04607111	0.07647	0.05877479	0.10917	-3.592	0.17742	T	0.42938692015687135	0.51678	0.398	0.59488	A	.	.	3.554982	0.49988	22.9	0.99441359451645728	0.64770	0.76300	0.37410	D	AEFDBCI	0.348578	0.44266	N	-0.122578489078968	0.36411	2.104231	-0.0707609257816035	0.36605	2.132397	0.999999914722368	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	6.17	4.41	0.52588	2.493000	0.44979	4.886000	0.45715	-0.176000	0.10722	0.953000	0.33222	1.000000	0.68203	0.180000	0.21296	0.1207:0.5685:0.1169:0.1939	3.377	0.06819	501	0.75956	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2537.43	49	chr3	196660764	.	C	G	2537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.546;DP=638;ExcessHet=0;FS=6.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=2.23;SOR=0.405	GT:AD:DP:GQ:PL	0/1:103,107:210:99:2549,0,2570	9	0	1	0
chr3	197138351	197138351	G	A	exonic	DLG1	.	nonsynonymous SNV	DLG1:NM_001204387:exon5:c.C505T:p.R169C,DLG1:NM_001204388:exon5:c.C505T:p.R169C,DLG1:NM_001366221:exon6:c.C604T:p.R202C,DLG1:NM_001366222:exon6:c.C604T:p.R202C,DLG1:NM_001366203:exon8:c.C700T:p.R234C,DLG1:NM_001366206:exon8:c.C700T:p.R234C,DLG1:NM_001366216:exon8:c.C700T:p.R234C,DLG1:NM_001366219:exon8:c.C700T:p.R234C,DLG1:NM_001366220:exon8:c.C700T:p.R234C,DLG1:NM_001204386:exon9:c.C754T:p.R252C,DLG1:NM_001363865:exon9:c.C754T:p.R252C,DLG1:NM_001366204:exon9:c.C754T:p.R252C,DLG1:NM_001366205:exon9:c.C754T:p.R252C,DLG1:NM_001366207:exon9:c.C754T:p.R252C,DLG1:NM_001366208:exon9:c.C754T:p.R252C,DLG1:NM_001366209:exon9:c.C754T:p.R252C,DLG1:NM_001366210:exon9:c.C754T:p.R252C,DLG1:NM_001366211:exon9:c.C754T:p.R252C,DLG1:NM_001366212:exon9:c.C754T:p.R252C,DLG1:NM_001366213:exon9:c.C754T:p.R252C,DLG1:NM_001366215:exon9:c.C754T:p.R252C,DLG1:NM_001366217:exon9:c.C754T:p.R252C,DLG1:NM_001098424:exon10:c.C853T:p.R285C,DLG1:NM_001290983:exon10:c.C853T:p.R285C,DLG1:NM_001366214:exon10:c.C853T:p.R285C,DLG1:NM_001366218:exon10:c.C853T:p.R285C,DLG1:NM_004087:exon10:c.C853T:p.R285C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.0176077457718	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452989685	6.368e-06	1.368e-05	2.815e-06	9.961e-06	3.064e-05	3e-06	2.17e-06	7.4e-07	2.1e-07	3.064e-05	0	0	0	1.954e-05	0	2.772e-06	5.187e-05	1.279e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.41637	D	0.094	0.45744	T	1.0	0.90584	D	0.969	0.77976	D	0.000124	0.49741	D	0.125962	0.99951	0.50595	D	2.065	0.56745	M	1.55	0.29866	T	-2.13	0.65742	N	0.361	0.40264	-0.8795	0.49801	T	0.169	0.50955	T	10	0.35114017	0.51970	T	0.017608	0.39377	T	0.224	0.52174	0.59	0.71874	0.486257639955	0.48257	0.7101232086190812	0.70954	0.432107496009	0.43392	0.611832678318	0.54576	T	0.317621	0.68906	T	0.000516878	0.51727	T	-0.237034	0.51089	T	0.615574836730957	0.37025	D	0.820918	0.48145	T	0.19974653	0.41925	0.26910248	0.52787	0.19974653	0.41925	0.26910248	0.52786	-7.294	0.58750	T	.	.	0.095	0.19639	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.028720	0.59562	24.1	0.99939556417491204	0.99734	0.37672	0.25814	N	AEFBI	0.266975	0.38378	N	0.336825589036002	0.58048	3.974897	0.310481963664044	0.56155	3.778482	0.999998449265742	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.31	5.31	0.75063	0.919000	0.28312	6.635000	0.56164	-0.103000	0.15852	0.002000	0.15269	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.317	0.90163	912	0.21483	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;.;PDZ domain|PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	897.43	42	chr3	197138351	.	G	A	897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.14;DP=376;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.789;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,26:63:99:0|1:197138351_G_A:909,0,1392:197138351	9	0	1	0
chr3	197142732	197142732	T	C	exonic	DLG1	.	nonsynonymous SNV	DLG1:NM_001204387:exon3:c.A325G:p.I109V,DLG1:NM_001204388:exon3:c.A325G:p.I109V,DLG1:NM_001366221:exon4:c.A424G:p.I142V,DLG1:NM_001366222:exon4:c.A424G:p.I142V,DLG1:NM_001366203:exon6:c.A520G:p.I174V,DLG1:NM_001366206:exon6:c.A520G:p.I174V,DLG1:NM_001366216:exon6:c.A520G:p.I174V,DLG1:NM_001366219:exon6:c.A520G:p.I174V,DLG1:NM_001366220:exon6:c.A520G:p.I174V,DLG1:NM_001204386:exon7:c.A574G:p.I192V,DLG1:NM_001363865:exon7:c.A574G:p.I192V,DLG1:NM_001366204:exon7:c.A574G:p.I192V,DLG1:NM_001366205:exon7:c.A574G:p.I192V,DLG1:NM_001366207:exon7:c.A574G:p.I192V,DLG1:NM_001366208:exon7:c.A574G:p.I192V,DLG1:NM_001366209:exon7:c.A574G:p.I192V,DLG1:NM_001366210:exon7:c.A574G:p.I192V,DLG1:NM_001366211:exon7:c.A574G:p.I192V,DLG1:NM_001366212:exon7:c.A574G:p.I192V,DLG1:NM_001366213:exon7:c.A574G:p.I192V,DLG1:NM_001366215:exon7:c.A574G:p.I192V,DLG1:NM_001366217:exon7:c.A574G:p.I192V,DLG1:NM_001098424:exon8:c.A673G:p.I225V,DLG1:NM_001290983:exon8:c.A673G:p.I225V,DLG1:NM_001366214:exon8:c.A673G:p.I225V,DLG1:NM_001366218:exon8:c.A673G:p.I225V,DLG1:NM_004087:exon8:c.A673G:p.I225V	.	24	1492	6	0	0	6	0.00200669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0127023113203	.	0.000199681	0.0004	0	0.0003	0	0	0.0001	0.0011	0.0025	0.0003558	55	154602	rs562094599	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0001	0.0018	0.0017	0	0.0004	3.835e-05	0	0	0.0007	3.695e-05	0.0003	0.0020	0.0001	0.0001	8.992e-05	0.0002	0.0017	9.735e-05	8.25e-05	0.0008	0.0006	0	0	0.0007	0	0	0	0	5.88e-05	0	0.0017	0.135	0.37536	T	0.177	0.43721	T	0.984	0.60733	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.15	0.08895	N	1.78	0.25678	T	-0.84	0.24676	N	0.496	0.57946	-1.0595	0.11880	T	0.080	0.31824	T	10	0.022341877	0.00555	T	0.012702	0.31501	T	0.172	0.43662	0.482	0.56302	0.373217324921	0.36936	0.3489429753305964	0.34808	0.307434405692	0.33039	0.788109838963	0.80155	T	0.256253	0.62714	T	-0.376154	0.03294	T	-0.31988	0.42587	T	0.147298677308122	0.16887	T	0.962204	0.85735	D	0.36413282	0.58149	0.26848832	0.52718	0.36413282	0.58149	0.26848832	0.52717	-7.52	0.65484	D	.	.	0.441	0.64768	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.967599	0.58234	24.0	0.99761908464974558	0.85172	0.98931	0.88793	D	AEFGBI	0.895224	0.83502	D	0.383524556899122	0.60530	4.24279	0.473856897549177	0.66263	4.929342	0.99999991135709	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.37	5.37	0.76949	7.674000	0.83146	6.152000	0.54210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.840	0.69849	898	0.25240	.;PDZ domain|PDZ domain;PDZ domain|PDZ domain;.;.;PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	580.43	53	chr3	197142732	.	T	C	580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.848;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.387;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,28:55:99:592,0,616	9	0	1	0
chr4	271917	271917	C	T	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.G940A:p.V314I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00112685847824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	0.24	0.30857	B	0.217	0.37636	B	.	.	.	.	0.99999	0.08975	N	0.715	0.18665	N	5.45	0.00969	T	-0.97	0.25770	N	0.055	0.02658	-0.8931	0.48659	T	0.003	0.00994	T	9	0.09083226	0.15857	T	0.001127	0.01385	T	0.020	0.03691	0.438	0.49157	0.0138822411134	0.00435	0.005906396681312896	0.00559	0.00627687952972	0.00547	0.254959255457	0.04308	T	0.005594	0.05042	T	-0.347392	0.04893	T	-0.736781	0.04027	T	0.201196783072965	0.20482	T	0.209679	0.02524	T	0.1438852	0.33050	0.15218101	0.35816	0.1438852	0.33050	0.15218101	0.35815	-5.053	0.37410	T	.	.	0.109	0.21125	B	.;.	.;.	0.815448	0.11866	8.432	0.93615112921144561	0.23480	0.00006	0.00120	N	AEFBHCI	0.015563	0.00303	N	-0.914136618564497	0.10511	0.5026178	-1.04940801681556	0.08719	0.430087	2.96663301372214E-4	0.06406	0.460665	0.09802	0	0.573888	0.26702	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	0.977	0.977	0.18853	-3.452000	0.00519	.	.	0.310000	0.19122	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.6852:0.0:0.3148	3.331	0.06669	958	0.09170	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	.	.	.	.	.	.	.	.	0.05	1093.43	38	chr4	271917	.	C	T	1093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.283;SOR=0.715	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1105,0,1165	9	0	1	0
chr4	441786	441786	G	A	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.C2681T:p.T894M	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000986632708709	8e-05	0.000399361	5.078e-05	0.0001	0.0003	0	0	1.536e-05	0	6.096e-05	5.17e-05	8	154602	rs189742026	3.353e-05	3.352e-05	2.723e-05	3.989e-05	0.0002	2.567e-05	2.312e-05	0.0001	7.819e-05	2.987e-05	0.0002	0	0	9.381e-05	0	2.159e-05	9.938e-05	4.64e-05	9.87e-05	9.85e-05	9.009e-05	0.0001	0.0005	6.015e-05	4.886e-05	0.0003	0.0002	4.823e-05	0	0.0005	0	0	0	0	5.884e-05	0.0005	0	0.026	0.50132	D	0.005	0.72224	D	0.982	0.60036	D	0.405	0.44649	B	.	.	.	.	1	0.08975	N	0.505	0.13445	N	2.12	0.19726	T	-0.7	0.19933	N	0.16	0.27435	-1.0397	0.17404	T	0.024	0.10103	T	9	0.025401324	0.00735	T	9.87E-4	0.01050	T	0.038	0.09825	.	.	0.0666544352282	0.05500	0.013151296599355962	0.01273	0.0906231924294	0.10225	0.250473439693	0.03818	T	0.003514	0.02920	T	-0.453463	0.01077	T	-0.619845	0.11197	T	0.134329327580189	0.15776	T	0.10279	0.00763	T	0.013929081	0.00075	0.022519968	0.00275	0.013929081	0.00074	0.022519968	0.00275	-7.248	0.56841	T	.	.	0.116	0.24901	B	.;.	.;.	1.530121	0.19634	14.36	0.8588266445789664	0.16172	0.00000	0.00017	N	AEFDGBHCI	0.030486	0.03078	N	-0.772030165390018	0.14043	0.6963476	-1.00558706768107	0.09662	0.4819986	0.00768860574793358	0.11522	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	0.539	0.539	0.16348	-1.892000	0.01702	.	.	-0.631000	0.04513	0.000000	0.06391	0.000000	0.08366	0.126000	0.19410	1.0E-4:1.0E-4:0.5569:0.443	3.526	0.07317	912	0.21483	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	.	.	.	.	.	.	.	.	0.05	1698.43	35	chr4	441786	.	G	A	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.217;SOR=0.668	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1710,0,1517	9	0	1	0
chr4	2042400	2042400	-	TG	exonic	C4orf48	.	frameshift insertion	C4orf48:NM_001141936:exon2:c.49_50insTG:p.P17Lfs*8,C4orf48:NM_001168243:exon2:c.148_149insTG:p.P50Lfs*8	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs879393703	0.0023	0.0015	0.0025	0.0021	0.0079	0.0021	0.0021	0.0046	0.0037	0.0050	0.0041	0.0002	0.0028	0.0090	0.0079	0.0014	0.0033	0.0007	0.0033	0.0034	0.0027	0.0039	0.0049	0.0031	0.0030	0.0044	0.0042	0.0049	0	0.0037	0.0003	0.0018	0.0104	0.0034	0.0016	0.0048	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	33.43	25	chr4	2042400	.	C	CTG	33.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.18;DP=139;ExcessHet=0;FS=0;InbreedingCoeff=-0.0563;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.78;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:45:1|0:2042387_ACCG_A:45,0,184:2042387	9	0	1	0
chr4	2042401	2042401	-	T	exonic	C4orf48	.	frameshift insertion	C4orf48:NM_001141936:exon2:c.50_51insT:p.L18Afs*92,C4orf48:NM_001168243:exon2:c.149_150insT:p.L51Afs*94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs764547021	0.0016	0.0010	0.0017	0.0015	0.0102	0.0015	0.0014	0.0060	0.0048	0.0062	0.0051	0	0.0001	0.0001	0.0102	0.0015	0.0030	0.0009	0.0024	0.0025	0.0024	0.0024	0.0048	0.0022	0.0021	0.0043	0.0041	0.0048	0	0.0034	0.0003	0.0004	9.992e-05	0.0035	0.0014	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3787.49	25	chr4	2042401	.	C	CT	3787.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.671;DP=142;ExcessHet=0;FS=0;InbreedingCoeff=-0.0451;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=32.37;ReadPosRankSum=1.41;SOR=0.941	GT:AD:DP:GQ:PL	0/1:0,2:6:69:240,164,184	9	0	1	0
chr4	2626566	2626566	G	T	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001366316:exon4:c.G621T:p.E207D,FAM193A:NM_001366318:exon4:c.G792T:p.E264D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19286174	0.35032	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75326448679	0.74928	T	.	.	.	.	.	.	.	.	.	.	.	.	0.823618	0.48435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.29995	B	.	.	2.611228	0.33913	19.48	0.88362276273946416	0.17917	0.90479	0.51689	D	AEFBI	.	.	.	.	.	.	.	.	.	0.109649837567713	0.16613	0.295142	0.05270	0	0.271743	0.05004	0	0.343423	0.05949	0	0.322829	0.05601	0	0.335098	0.35816	5.27	3.14	0.35196	0.519000	0.22570	2.282000	0.31903	-0.113000	0.14837	0.999000	0.42656	1.000000	0.68203	0.990000	0.65344	0.2111:0.1536:0.6353:0.0	6.018	0.18838	627	0.65350	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	39.78	0	chr4	2626566	.	G	T	39.78	.	AC=2;AF=0.25;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.89;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	6
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	.	.	.	.	.	.	.	.	0.25	206.6	131	chr4	2662992	.	G	C	206.6	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.757;DP=1100;ExcessHet=1.5895;FS=233.351;InbreedingCoeff=-0.3891;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=0.827;SOR=10.823	GT:AD:DP:GQ:PL	0/1:62,29:104:55:55,0,1014	4	0	4	2
chr4	2832353	2832353	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon11:c.C1429T:p.R477W,SH3BP2:NM_001145855:exon11:c.C1513T:p.R505W,SH3BP2:NM_001145856:exon11:c.C1600T:p.R534W,SH3BP2:NM_003023:exon11:c.C1429T:p.R477W	Cherubism, Autosomal dominant	0	1469	50	3	0	56	0.0187041	.	.	.	298197	not_specified|not_provided|Fibrous_dysplasia_of_jaw	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.353	.	0.0032	0.00419329	0.0048	0.0007	0.0014	0.0009	0.0005	0.0044	0.0111	0.0145	0.0046895	725	154602	rs148761331	0.0047	0.0047	0.0043	0.0051	0.0141	0.0046	0.0045	0.0135	0.0132	0.0008	0.0011	0.0028	0.0006	0.0004	0.0097	0.0046	0.0042	0.0141	0.0030	0.0030	0.0034	0.0027	0.0135	0.0028	0.0027	0.0108	0.0099	0.0007	0.0011	0.0010	0.0035	0.0017	0.0003	0	0.0048	0.0024	0.0135	0.005	0.65419	D	0.012	0.79402	D	0.993	0.65571	D	0.719	0.54822	P	0.547009	0.05347	N	1.263160	1	0.08975	N	.	.	.	-1.34	0.80214	T	-2.13	0.50012	N	0.436	0.58287	-0.4768	0.69483	T	0.503	0.81247	D	10	0.009694606	0.00218	T	.	.	.	0.353	0.67418	.	.	0.891418545996	0.89034	.	.	0.496001013045	0.48122	0.261938273907	0.05123	T	0.64222	0.89042	D	-0.285483	0.10094	T	-0.170529	0.57394	T	0.0299888361982015	0.01988	T	0.90391	0.66280	D	0.066479646	0.14309	0.08433826	0.19394	0.076425284	0.17283	0.07091893	0.15126	-7.768	0.60633	D	.	.	0.076	0.05935	B	.;.;.;.;.;.	.;.;.;.;.;.	4.179443	0.62902	24.5	0.99886729642261152	0.96204	0.36689	0.25591	N	AEFDGBCI	0.174426	0.30155	N	0.0692387533215059	0.45032	2.766651	0.0143435380050956	0.40378	2.408904	0.999998199745543	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	4.35	0.51454	0.929000	0.28445	3.811000	0.39910	0.599000	0.40250	0.250000	0.24849	0.173000	0.23359	0.798000	0.37648	0.2103:0.6731:0.1166:0.0	9.358	0.37340	726	0.54788	SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.004076	0.000000	0.000000	0.008621	0.009146	0.026515	0.05	966.43	38	chr4	2832353	.	C	T	966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=444;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.187;SOR=0.649	GT:AD:DP:GQ:PL	0/1:57,41:98:99:978,0,1211	9	0	1	0
chr4	5694340	5694340	G	A	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon3:c.C205T:p.R69C,EVC2:NM_147127:exon3:c.C445T:p.R149C	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1921699	Inborn_genetic_diseases|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0297178686121	7.7e-05	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs148388393	2.395e-05	2.463e-05	2.178e-05	2.613e-05	2.988e-05	1.739e-05	1.539e-05	1.914e-05	1.661e-05	2.988e-05	2.236e-05	0	2.519e-05	0	0	2.698e-05	0	2.319e-05	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.168	0.23007	T	0.133	0.34359	T	0.733	0.42736	P	0.109	0.31370	B	0.237541	0.03560	N	1.547490	1	0.08975	N	0.895	0.22405	L	-0.91	0.75001	T	-0.99	0.28290	N	0.292	0.33030	-0.8753	0.50127	T	0.215	0.57599	T	10	0.16100007	0.30211	T	0.029718	0.52173	D	0.194	0.47447	.	.	0.779409940876	0.77737	0.13842752633689684	0.13765	0.0527126008803	0.05807	0.186225682497	0.00165	T	0.039003	0.25040	T	-0.126703	0.32031	T	-0.31212	0.43429	T	0.0713815889800796	0.08844	T	0.713029	0.32487	T	0.05670443	0.11191	0.036036532	0.02971	0.05670443	0.11190	0.036036532	0.02971	-4.779	0.34345	T	.	.	0.075	0.19760	B	.;.	.;.	1.584547	0.20273	14.67	0.87412240047462686	0.17209	0.03779	0.09097	N	AEFBI	0.051975	0.09233	N	-0.653538228649689	0.17357	0.8924686	-0.749375899117261	0.15737	0.8291852	0.0060946638065658	0.11127	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.36	2.56	0.29842	0.968000	0.28955	2.496000	0.33006	0.676000	0.76740	0.007000	0.17678	0.111000	0.22795	0.012000	0.09680	0.1103:0.0:0.6842:0.2055	5.077	0.13972	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1242.43	33	chr4	5694340	.	G	A	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.743;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.103;SOR=0.673	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1254,0,1121	9	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	.	.	.	.	.	.	.	.	0.05	1613.43	138	chr4	8614433	.	C	G	1613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.141;DP=1587;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.267;SOR=0.747	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1625,0,1559	9	0	1	0
chr4	9211832	9211832	A	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A1176T:p.R392S	.	1163	356	1	2	0	5	0.0069735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	.	0.0025	0.1053	0	0	0	0.0026	0	0	3.84e-05	1	26028	rs772527028	0.0003	0.0029	0.0003	0.0002	0.0032	0.0002	0.0002	0.0011	0.0006	0.0032	0.0002	0	0	0.0002	0	0.0003	0	0.0002	0	0.0012	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.594	0.05737	T	0.711	0.05506	T	.	.	.	.	.	.	0.017419	0.01465	N	2.715260	0.999997	0.08975	N	-0.305	0.03614	N	1.06	0.39781	T	0.51	0.04091	N	0.167	0.17691	-1.0474	0.15130	T	0.058	0.24279	T	6	0.0042978525	0.00086	T	.	.	.	0.048	0.13305	0.285	0.24280	0.0954503805726	0.09146	0.007080721645171505	0.00675	.	.	0.442511886358	0.30920	T	0.002047	0.01452	T	-0.311873	0.07584	T	-0.68576	0.06637	T	0.00190084663201817	0.00019	T	0.413759	0.10783	T	0.11266872	0.26616	0.08962535	0.20969	0.11266872	0.26616	0.08962535	0.20968	-3.599	0.17842	T	.	.	0.149	0.32874	B	.;.	.;.	0.334718	0.07086	3.657	0.71546181859456126	0.09666	0.03471	0.08627	N	AEFI	0.037047	0.05032	N	-0.82370369791333	0.12706	0.6210558	-0.984100776170731	0.10142	0.5089458	2.19530635383511E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.544000	0.22960	.	.	-0.492000	0.05042	0.011000	0.18532	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	40.95	.	chr4	9211832	.	A	T	40.95	.	AC=2;AF=0.333;AN=6;DP=50;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=42.5;QD=20.48;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	7
chr4	9245119	9245119	G	T	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G1241T:p.C414F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.736491041037	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218482728	0.0013	0.0048	0.0012	0.0014	0.0060	0.0012	0.0012	0.0048	0.0044	0.0060	0.0015	0.0013	0.0018	0.0003	0.0006	0.0009	0.0018	0.0025	0.0017	0.0046	0.0019	0.0016	0.0028	0.0015	0.0014	0.0023	0.0020	0.0028	0.0056	0.0012	0.0024	0.0022	0.0012	0	0.0008	0	0.0011	0.104	0.29959	T	0.133	0.34959	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	1.01	0.41058	T	-1.81	0.42575	N	0.086	0.06720	-1.0031	0.29021	T	0.078	0.31133	T	6	0.10945159	0.20418	T	0.736491	0.97885	D	0.022	0.04323	0.199	0.11247	0.356897458496	0.35304	0.006975331918423807	0.00664	.	.	0.503815054893	0.39358	T	0.027017	0.19873	T	-0.251895	0.13867	T	-0.599606	0.12845	T	0.0402960604124247	0.03744	T	0.458654	0.13238	T	0.13310283	0.30969	0.14533089	0.34472	0.13310283	0.30969	0.14533089	0.34471	-3.922	0.22632	T	.	.	0.074	0.05060	B	.;.	.;.	0.994400	0.13725	10.27	0.82222698054279941	0.14081	0.00140	0.00856	N	AEFI	0.038836	0.05555	N	-0.888670902270931	0.11112	0.5344696	-1.12377548668543	0.07247	0.3518266	1.37127515313601E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.36	-0.72	0.10631	-0.938000	0.04047	.	.	0.297000	0.18867	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.31	8	chr4	9245119	.	G	T	31.31	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.431;DP=78;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=22.06;MQRankSum=0.674;QD=7.83;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:40:42,0,40	8	0	1	1
chr4	15003812	15003812	G	C	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G1139C:p.G380A,CPEB2:NM_001177382:exon1:c.G1139C:p.G380A,CPEB2:NM_001177383:exon1:c.G1139C:p.G380A,CPEB2:NM_001177384:exon1:c.G1139C:p.G380A,CPEB2:NM_182485:exon1:c.G1139C:p.G380A,CPEB2:NM_182646:exon1:c.G1139C:p.G380A	.	551	948	18	5	0	28	0.014553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.0119808	0.1152	0.1	0.2	0	.	0.0357	0.0714	0.1228	0.0020116	311	154602	rs572958953	0.0079	0.0069	0.0075	0.0082	0.0465	0.0077	0.0076	0.0440	0.0430	0.0009	0.0046	0.0052	0	0.0027	0.0196	0.0073	0.0097	0.0465	0.0071	0.0069	0.0063	0.0079	0.0510	0.0067	0.0066	0.0457	0.0436	0.0013	0.0144	0.0087	0.0068	0.0002	0.0006	0.0492	0.0082	0.0059	0.0510	0.0	0.91255	D	0.515	0.21947	T	.	.	.	.	.	.	.	.	.	.	0.845602	0.28570	N	.	.	.	0.8	0.48769	T	-0.21	0.12472	N	0.067	0.17691	-0.9936	0.31670	T	0.073	0.29483	T	7	0.0017962456	0.00024	T	.	.	.	0.044	0.11924	.	.	.	.	0.4029871108901258	0.40214	0.342334712265	0.36172	0.784202933311	0.79562	T	.	.	.	-0.565046	0.00237	T	-0.558664	0.16501	T	0.133774850907415	0.15726	T	.	.	.	.	.	.	.	.	.	.	.	-3.859	0.21884	T	.	.	0.287	0.69497	B	.;.	.;.	3.220641	0.43878	21.8	0.86073891809344205	0.16296	0.51470	0.28903	D	AEFDBHCI	0.328139	0.42889	N	-0.293961584911156	0.29379	1.628797	-0.307236041630183	0.27864	1.549253	0.999999996077333	0.74766	0.437478	0.07067	0	0.166054	0.03914	2	0.606814	0.37721	0	0.621717	0.48901	0	.	.	1.45	1.45	0.21708	2.813000	0.47701	6.620000	0.56116	0.208000	0.17961	0.998000	0.41325	1.000000	0.68203	0.803000	0.37862	0.0:0.0:1.0:0.0	8.433	0.31932	579	0.69780	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.031250	0.010000	0.000000	0.038462	0.000000	0.000000	0.021739	0.022727	0.1	32.58	2	chr4	15003812	.	G	C	32.58	.	AC=2;AF=0.1;AN=20;DP=45;ExcessHet=0;FS=0;InbreedingCoeff=0.5997;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.29;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	0
chr4	16018417	16018421	TTGAG	-	exonic	PROM1	.	stopgain	PROM1:NM_001145851:exon7:c.877_881del:p.L293*,PROM1:NM_001145847:exon8:c.877_881del:p.L293*,PROM1:NM_001145848:exon8:c.877_881del:p.L293*,PROM1:NM_001145849:exon8:c.904_908del:p.L302*,PROM1:NM_001145852:exon8:c.877_881del:p.L293*,PROM1:NM_001371406:exon8:c.877_881del:p.L293*,PROM1:NM_001371407:exon8:c.877_881del:p.L293*,PROM1:NM_001371408:exon8:c.877_881del:p.L293*,PROM1:NM_001145850:exon9:c.904_908del:p.L302*,PROM1:NM_006017:exon9:c.904_908del:p.L302*	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2157.39	33	chr4	16018416	.	ATTGAG	A	2157.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.026;DP=433;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-0.731;SOR=0.595	GT:AD:DP:GQ:PL	0/1:71,57:128:99:2169,0,2789	9	0	1	0
chr4	17884108	17884108	C	T	exonic	LCORL	.	nonsynonymous SNV	LCORL:NM_001166139:exon7:c.G1421A:p.S474N,LCORL:NM_001365658:exon8:c.G941A:p.S314N,LCORL:NM_001365659:exon8:c.G941A:p.S314N	.	436	1085	1	0	0	1	0.000460617	.	.	.	2351256	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.144	0.00277448250298	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs148261312	1.144e-05	1.094e-05	8.464e-06	1.45e-05	0.0002	6.77e-06	5.48e-06	8.204e-05	5.561e-05	0.0002	0	0	0	0	0	5.563e-06	6.899e-05	0	1.974e-05	1.969e-05	1.288e-05	2.692e-05	4.817e-05	5.25e-06	2.46e-06	7.98e-06	2.99e-06	4.817e-05	0	0	0	0	0	0	1.473e-05	0	0	0.44	0.11227	T	0.254	0.24123	T	.	.	.	.	.	.	0.005422	0.32805	N	0.348186	1	0.81001	D	-0.205	0.04094	N	.	.	.	-0.5	0.15782	N	0.081	0.05670	-1.0081	0.27510	T	0.058	0.24242	T	7	0.101181686	0.18471	T	0.002774	0.05752	T	0.144	0.38394	.	.	0.193917141947	0.19028	0.5833540748064074	0.58264	0.414768115715	0.42146	0.58541572094	0.50848	T	0.002706	0.02096	T	-0.299413	0.08715	T	-0.667862	0.07746	T	0.167911767959595	0.18437	T	0.742826	0.36203	T	0.05115468	0.09351	0.06175106	0.11975	0.05115468	0.09350	0.06175106	0.11975	-4.697	0.33367	T	.	.	0.085	0.10304	B	.;.	.;.	2.746477	0.35986	20.1	0.91348872802030101	0.20612	0.47373	0.27968	N	AEFBI	0.085562	0.17345	N	-0.0403658722508174	0.40034	2.370689	0.0637843131489733	0.42742	2.590707	0.898596390136003	0.26030	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.19	3.06	0.34374	1.487000	0.35149	2.207000	0.31336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7231:0.0:0.2769	8.835	0.34267	436	0.80373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1303.43	38	chr4	17884108	.	C	T	1303.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.857;DP=490;ExcessHet=0;FS=3.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=1.36;SOR=0.508	GT:AD:DP:GQ:PL	0/1:81,53:134:99:1315,0,2131	9	0	1	0
chr4	22424214	22424214	C	T	exonic	ADGRA3	.	nonsynonymous SNV	ADGRA3:NM_145290:exon11:c.G1582A:p.G528S	.	445	1060	17	0	0	17	0.00795508	.	.	.	1274610	Optic_atrophy|ADGRA3-related_disorder|Retinal_dystrophy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|.|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	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.0123390148085	0.0014	0.000998403	0.0017	0.0005	0.0009	0	0.0003	0.0026	0.0011	0.0008	0.0016041	248	154602	rs61745011	0.0016	0.0016	0.0015	0.0017	0.0178	0.0015	0.0015	0.0148	0.0137	0.0007	0.0017	7.673e-05	0.0003	0.0003	0.0178	0.0017	0.0022	0.0007	0.0016	0.0016	0.0017	0.0015	0.0037	0.0014	0.0014	0.0029	0.0026	0.0006	0.0022	0.0037	0.0003	0	0.0002	0.0238	0.0020	0.0062	0.0008	1.0	0.02309	T	1.0	0.03380	T	0.001	0.18235	B	0.0	0.16012	B	0.000502	0.43753	N	0.266488	0.994947	0.23407	N	.	.	.	0.76	0.53516	T	1.09	0.01263	N	0.166	0.17553	-1.0411	0.16981	T	0.037	0.15943	T	10	0.005822152	0.00130	T	0.012339	0.30825	T	0.079	0.23065	.	.	0.043077524339	0.03247	0.31789564106272394	0.31702	0.0997312939476	0.11260	0.22305470705	0.01493	T	0.071876	0.34315	T	-0.582621	0.00186	T	-0.614909	0.11591	T	0.00416435808975832	0.00044	T	0.70393	0.31399	T	0.013890847	0.00073	0.040655706	0.04443	0.013890847	0.00073	0.040655706	0.04442	-2.539	0.10042	T	.	.	0.056	0.00478	B	.;.;.	.;.;.	1.016401	0.13959	10.52	0.36644570165053242	0.02369	0.15429	0.18907	N	AEFBI	0.080459	0.16267	N	-0.913077330814378	0.10535	0.5039075	-0.734162068912232	0.16112	0.8507995	0.852322293268972	0.25068	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	4.25	0.49658	4.364000	0.59253	1.230000	0.25036	-0.167000	0.11441	0.998000	0.41325	0.003000	0.18671	0.242000	0.23054	0.0:0.0724:0.0:0.9276	11.252	0.48262	827	0.39843	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.015106	0.005051	0.019022	0.023392	0.000000	0.017241	0.012195	0.007576	0.05	933.43	33	chr4	22424214	.	C	T	933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.374;DP=409;ExcessHet=0;FS=1.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.465;SOR=0.935	GT:AD:DP:GQ:PL	0/1:57,45:102:99:945,0,1295	9	0	1	0
chr4	37446554	37446556	CTT	-	exonic	NWD2	.	nonframeshift deletion	NWD2:NM_001144990:exon7:c.4566_4568del:p.F1523del	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348019434	7.145e-06	6.84e-06	5.64e-06	8.693e-06	0.0002	3.61e-06	2.64e-06	8.193e-05	5.554e-05	0.0002	2.801e-05	0	0	0	0	9.268e-07	3.447e-05	0	1.972e-05	1.97e-05	0	4.035e-05	6.551e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	6.551e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2470.39	51	chr4	37446553	.	ACTT	A	2470.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.137;DP=534;ExcessHet=0;FS=5.186;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.7;ReadPosRankSum=0.71;SOR=0.456	GT:AD:DP:GQ:PL	0/1:38,62:100:99:2482,0,1399	9	0	1	0
chr4	39255854	39255854	A	G	exonic	WDR19	.	nonsynonymous SNV	WDR19:NM_001317924:exon26:c.A2528G:p.E843G,WDR19:NM_025132:exon27:c.A3008G:p.E1003G	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive	3	1501	16	2	0	20	0.00661813	.	.	.	428297	Spermatogenic_failure_72|Senior-Loken_syndrome_8|Cranioectodermal_dysplasia_4|Asphyxiating_thoracic_dystrophy_5|Nephronophthisis_13|not_provided|Connective_tissue_disorder|WDR19-related_disorder|not_specified	MONDO:MONDO:0030809,MedGen:C5676980,OMIM:619867|MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156|MONDO:MONDO:0013719,MedGen:C3280616,OMIM:614378,Orphanet:1515|MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474|MONDO:MONDO:0013718,MedGen:C3280612,OMIM:614377,Orphanet:655|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0622311887704	0.0004	0.000798722	0.0025	0.0004	0.0027	0	0	0.0026	0.0023	0.0058	0.0011643	180	154602	rs201354264	0.0010	0.0010	0.0009	0.0011	0.0072	0.0009	0.0009	0.0055	0.0049	0.0002	0.0006	0.0008	0	0	0.0072	0.0009	0.0014	0.0033	0.0007	0.0006	0.0007	0.0006	0.0029	0.0005	0.0005	0.0018	0.0014	7.217e-05	0	0.0006	0.0003	0	9.413e-05	0.0034	0.0010	0.0009	0.0029	0.078	0.33923	T	0.13	0.34716	T	0.005	0.12996	B	0.008	0.13708	B	0.000735	0.42129	N	0.297639	0.999973	0.54805	D	2.19	0.61577	M	-0.23	0.66652	T	-1.69	0.40274	N	0.518	0.54845	-0.7783	0.56398	T	0.212	0.57307	T	10	0.009061396	0.00205	T	0.062231	0.68587	D	0.112	0.31546	.	.	0.636377056752	0.63338	0.3002132885359746	0.29934	0.200835374609	0.22483	0.540675997734	0.44540	T	0.203938	0.56255	T	-0.382651	0.02997	T	-0.324534	0.42076	T	0.0269710569503349	0.01540	T	0.717928	0.33070	T	0.07539297	0.16982	0.0989163	0.23598	0.07539297	0.16982	0.0989163	0.23597	-9.696	0.72072	D	0.2973125555671689	0.39441	0.080	0.07889	B	.	.	2.615635	0.33978	19.50	0.99210169084143907	0.55563	0.89377	0.49805	D	AEFBCI	0.537930	0.55553	D	-0.25351500826714	0.30963	1.731542	-0.0894304006294651	0.35826	2.077337	0.99992134151006	0.46280	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.654926	0.60358	0	.	.	5.92	3.36	0.37579	4.465000	0.59876	2.376000	0.32458	-0.076000	0.16278	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.8098:0.1238:0.0664:0.0	10.170	0.42078	390	0.83257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.005435	0.002941	0.000000	0.008621	0.000000	0.000000	0.05	979.43	42	chr4	39255854	.	A	G	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=416;ExcessHet=0;FS=1.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=2.19;SOR=0.958	GT:AD:DP:GQ:PL	0/1:51,42:93:99:991,0,1211	9	0	1	0
chr4	41982378	41982378	G	A	exonic	DCAF4L1	.	nonsynonymous SNV	DCAF4L1:NM_001029955:exon1:c.G586A:p.A196T	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.00982608711377	0.0017	0.000399361	0.0011	0.0005	0.0003	0	0	0.0016	0.0022	0.0005	0.0011837	183	154602	rs139209766	0.0017	0.0017	0.0017	0.0017	0.0021	0.0017	0.0016	0.0021	0.0020	0.0004	0.0005	0	0	3.744e-05	0.0021	0.0021	0.0009	0.0004	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0002	0.0003	0	9.423e-05	0	0.0019	0.0014	0.0008	0.096	0.31088	T	0.289	0.21078	T	0.898	0.49442	P	0.137	0.33328	B	0.000784	0.41772	D	0.277345	0.633685	0.32813	D	1.905	0.50856	L	-0.47	0.70133	T	-1.46	0.35792	N	0.2	0.22098	-0.7554	0.57651	T	0.173	0.51579	T	10	0.011575431	0.00252	T	0.009826	0.25631	T	0.204	0.49076	.	.	0.134007934775	0.12933	0.2227637100081241	0.22191	0.855463859066	0.68732	0.322410464287	0.13786	T	0.049877	0.28434	T	-0.472268	0.00823	T	-0.464387	0.26123	T	0.0265638361312182	0.01483	T	0.90061	0.65471	D	0.05825504	0.11696	0.07129384	0.15251	0.05825504	0.11696	0.07129384	0.15251	-4.398	0.29530	T	.	.	0.110	0.21087	B	.	.	1.372553	0.17831	13.39	0.99227718504538742	0.56120	0.23523	0.22103	N	AEFDI	0.045072	0.07329	N	-0.396045955405243	0.25610	1.391463	-0.56531784014552	0.20400	1.098904	0.743928072783988	0.23255	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	0.688	0.688	0.17190	1.173000	0.31529	3.504000	0.38797	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.161000	0.20682	0.3493:0.0:0.6507:0.0	3.039	0.05762	598	0.68232	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	3606.43	43	chr4	41982378	.	G	A	3606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.661;DP=649;ExcessHet=0;FS=1.405;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.981;SOR=0.599	GT:AD:DP:GQ:PL	0/1:143,146:289:99:3618,0,3723	9	0	1	0
chr4	76756857	76756857	T	G	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon8:c.T5118G:p.D1706E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00858800736981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.107	0.37730	T	0.026	0.19406	B	0.038	0.23361	B	0.597309	0.10992	N	0.808125	1	0.08975	N	0.665	0.16292	N	1.57	0.29342	T	-2.97	0.61865	D	0.103	0.08646	-0.9976	0.30590	T	0.040	0.17277	T	10	0.40962633	0.56134	T	0.008588	0.22705	T	0.089	0.25827	0.801	0.92017	0.161926535498	0.15789	0.08480901213952492	0.08414	0.419819143065	0.42524	0.366120398045	0.20273	T	0.166248	0.51242	T	-0.336917	0.05605	T	-0.721734	0.04712	T	0.061262752515057	0.07366	T	0.59614	0.22137	T	0.09850861	0.23236	0.09293683	0.21926	0.09850861	0.23236	0.09293683	0.21926	-5.251	0.39456	T	.	.	0.148	0.42288	B	.;.	.;.	0.489918	0.08593	5.359	0.87805804609082994	0.17495	0.11961	0.16972	N	AEFBI	0.147540	0.27124	N	-1.35916137076895	0.03031	0.1347632	-1.4623777062443	0.02660	0.1227393	0.999999858597953	0.74766	0.67177	0.52595	0	0.624146	0.53433	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.34	-8.11	0.00953	-0.020000	0.12466	-2.873000	0.03274	-0.278000	0.06506	0.004000	0.16614	0.000000	0.08366	0.306000	0.24642	0.2327:0.5362:0.0909:0.1402	6.526	0.21499	744	0.52588	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1486.43	40	chr4	76756857	.	T	G	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.382;DP=503;ExcessHet=0;FS=2.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.84;SOR=0.505	GT:AD:DP:GQ:PL	0/1:88,66:154:99:1498,0,2165	9	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	56.6	47	chr4	82485718	.	G	C	56.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.194;DP=377;ExcessHet=2.8389;FS=96.99;InbreedingCoeff=-0.2826;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.092;SOR=7.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,6:25:7:0|1:82485718_G_C:7,0,335:82485718	5	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5581.44	43	chr4	87615730	.	ATAG	*	5581.44	.	AC=8;AF=0.4;AN=20;DP=390;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=58.11;QD=19.52;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,17:43:99:.:.:629,0,999:.	4	2	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4265.86	19	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4265.86	.	AC=8;AF=0.4;AN=20;DP=428;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=57.76;QD=20.22;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,17:43:99:.:.:629,0,999:.	4	2	4	0
chr4	87615923	87615924	CA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1074	227	3	1	217	222	0.0108932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615923	.	CA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,16:31:99:0|1:87615911_A_C:558,0,577:87615911	1	4	2	3
chr4	87615925	87615936	GTGACAGCAGCA	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	1073	228	3	1	217	222	0.010846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615925	.	GTGACAGCAGCA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,16:31:99:0|1:87615911_A_C:558,0,577:87615911	1	4	2	3
chr4	87616227	87616235	AGCAGTGAC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3565_3573del:p.S1229_S1231del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	483	953	63	17	6	103	0.0484274	.	.	.	2820010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0005	0.0049	0.0016	0	0.0013	0	0.0011	0.0001876	29	154602	rs765237365	0.0011	0.0018	0.0010	0.0012	0.0057	0.0011	0.0010	0.0051	0.0048	0.0005	0.0032	0.0011	0.0057	0.0026	0.0042	0.0008	0.0012	0.0010	0.0011	0.0020	0.0010	0.0012	0.0037	0.0009	0.0009	0.0023	0.0018	0.0005	0	0.0016	0.0003	0.0037	0.0016	0.0052	0.0011	0.0022	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	753.13	47	chr4	87616226	.	TAGCAGTGAC	T	753.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.429;DP=376;ExcessHet=0.2348;FS=0.981;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.23;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.144;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,3:25:62:0|1:87616226_TAGCAGTGAC_T:62,0,887:87616226	9	0	1	0
chr4	87616232	87616232	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1637.3	47	chr4	87616232	.	T	*	1637.3	.	AC=1;AF=0.056;AN=18;DP=380;ExcessHet=0;FS=3.754;InbreedingCoeff=0.4805;MLEAC=1;MLEAF=0.056;MQ=59.26;MQRankSum=0;QD=25.99;ReadPosRankSum=-2.271;SOR=1.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,3:25:99:1|0:87616226_TAGCAGTGAC_T:740,0,838:87616226	8	0	1	1
chr4	88051997	88051997	G	A	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon7:c.G1555A:p.V519M	Polycystic kidney disease 2	1	224	0	1	0	2	0.00444444	.	.	.	221478	Polycystic_kidney_disease_2|not_specified|PKD2-related_disorder|Autosomal_dominant_polycystic_kidney_disease	MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MedGen:CN169374|.|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0307800702976	.	.	6.7e-05	0	0	0	0	0.0001	0	6.099e-05	7.12e-05	11	154602	rs148920907	7.463e-05	8.144e-05	6.89e-05	8.038e-05	0.0019	6.293e-05	5.866e-05	0.0011	0.0008	0	2.251e-05	0	0	0	0.0019	5.861e-05	0.0002	0.0003	3.943e-05	3.94e-05	3.854e-05	4.037e-05	0.0002	1.716e-05	1.13e-05	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.042	0.41637	D	0.044	0.49663	D	0.254	0.31272	B	0.469	0.46748	P	0.001269	0.39594	N	0.249328	0.999971	0.81001	D	2.2	0.62015	M	-0.68	0.72568	T	-1.2	0.30555	N	0.292	0.33030	-0.4084	0.71761	T	0.345	0.70988	T	10	0.28543022	0.46125	T	0.03078	0.53014	D	0.329	0.65126	.	.	0.790736096559	0.78879	0.7540853770535401	0.75355	0.463816329674	0.45873	0.36049592495	0.19458	T	0.379439	0.74219	T	-0.133409	0.30945	T	-0.149974	0.59246	T	0.0644014403223991	0.07842	T	0.79652	0.44001	T	0.11277727	0.26641	0.07457088	0.16326	0.11277727	0.26641	0.07457088	0.16326	-5.629	0.43057	T	0.3329220957017701	0.43091	0.096	0.15520	B	.	.	2.271723	0.29037	17.99	0.99674203069258982	0.78782	0.75804	0.37135	D	AEFBI	0.192018	0.31919	N	-0.172911582952449	0.34266	1.953752	-0.19595334024948	0.31685	1.795481	0.999906605070148	0.45458	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.33	4.47	0.53770	1.127000	0.30970	0.202000	0.15863	0.670000	0.69193	0.668000	0.28331	0.000000	0.08366	0.387000	0.26492	0.0734:0.0:0.7864:0.1402	9.806	0.39960	483	0.77230	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	593.43	35	chr4	88051997	.	G	A	593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=366;ExcessHet=0;FS=1.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.255;SOR=0.919	GT:AD:DP:GQ:PL	0/1:31,24:55:99:605,0,730	9	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1544.91	130	chr4	99318097	.	C	G	1544.91	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.498;DP=1449;ExcessHet=10.3881;FS=281.803;InbreedingCoeff=-0.6704;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=1.5;ReadPosRankSum=-0.079;SOR=11.983	GT:AD:DP:GQ:PL	0/1:89,28:147:33:33,0,1414	2	0	8	0
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	.	.	.	.	.	.	.	.	0.3333	1384.73	96	chr4	99347057	.	C	G	1384.73	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.852;DP=1202;ExcessHet=4.5998;FS=272.732;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=-0.703;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,38:116:99:.:.:263,0,1159:.	3	0	6	1
chr4	103123040	103123040	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon41:c.C6611G:p.S2204C,CENPE:NM_001813:exon43:c.C6974G:p.S2325C	.	440	1031	46	5	0	56	0.02644	.	.	.	363639	CENPE-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0053	0.00599042	0.0071	0.0009	0.0032	0	0.0008	0.0070	0.0165	0.0202	0.0067658	1046	154602	rs61751592	0.0069	0.0069	0.0062	0.0075	0.0205	0.0067	0.0067	0.0197	0.0194	0.0011	0.0030	0.0191	5.043e-05	0.0007	0.0146	0.0063	0.0080	0.0205	0.0055	0.0055	0.0057	0.0054	0.0185	0.0052	0.0051	0.0154	0.0142	0.0011	0	0.0055	0.0245	0.0002	0.0006	0.0171	0.0074	0.0095	0.0185	0.289	0.25457	T	0.229	0.25210	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	-0.0	0.62762	T	2.46	0.00478	N	0.214	0.24010	-1.0353	0.18762	T	0.078	0.31012	T	9	0.0037833452	0.00071	T	.	.	.	0.066	0.19193	.	.	0.27715347029	0.27323	0.10530451158643887	0.10460	0.0379199756883	0.04027	0.339432835579	0.16352	T	0.029523	0.21136	T	-0.521914	0.00429	T	-0.506213	0.21705	T	0.00245141748632163	0.00025	T	0.589341	0.22547	T	0.03519231	0.04095	0.044902492	0.05921	0.036797013	0.04597	0.05709746	0.10320	-4.187	0.26563	T	.	.	0.091	0.16973	B	.;.;.	.;.;.	0.848608	0.12204	8.752	0.96871932267467953	0.31423	0.01065	0.03951	N	AEFBI	0.035227	0.04498	N	-0.922340630374555	0.10321	0.4926205	-0.873426888120818	0.12725	0.6562592	0.00249431243295335	0.09478	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	1.88	0.24630	0.103000	0.15128	0.725000	0.21043	0.509000	0.23192	0.000000	0.06391	0.001000	0.17328	0.889000	0.42754	0.1106:0.4497:0.4397:0.0	6.601	0.21892	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.015152	0.006793	0.014620	0.100000	0.017241	0.015244	0.053030	0.1	2143.14	34	chr4	103123040	.	G	C	2143.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.59;DP=464;ExcessHet=0.2348;FS=2.538;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.186;SOR=0.916	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1100,0,1353	8	0	2	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	.	.	.	.	.	.	.	.	0.35	639.89	106	chr4	106925843	.	C	T	639.89	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.655;DP=1109;ExcessHet=7.0302;FS=156.498;InbreedingCoeff=-0.5348;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=0.65;ReadPosRankSum=1.63;SOR=10.97	GT:AD:DP:GQ:PL	0/1:103,30:133:41:41,0,1946	3	0	7	0
chr4	109684611	109684611	A	G	exonic	MCUB	.	nonsynonymous SNV	MCUB:NM_017918:exon6:c.A781G:p.M261V	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0106443592674	0.0012	0.00159744	0.0009	0.0006	0.0013	0	0	0.0010	0	0.0008	0.0008279	128	154602	rs79405119	0.0008	0.0008	0.0007	0.0008	0.0018	0.0007	0.0007	0.0010	0.0008	0.0007	0.0011	0.0005	0	0.0001	0.0018	0.0008	0.0010	0.0008	0.0008	0.0008	0.0007	0.0008	0.0018	0.0006	0.0006	0.0012	0.0011	0.0005	0	0.0018	0.0014	0.0002	0	0	0.0008	0.0009	0.0008	0.005	0.63226	D	0.072	0.43344	T	0.859	0.47319	P	0.609	0.51053	P	0.000019	0.62929	N	0.187833	0.998717	0.45323	D	2.19	0.61577	M	1.43	0.32958	T	-3.11	0.63669	D	0.347	0.38848	-1.0618	0.11312	T	0.065	0.27017	T	10	0.011704028	0.00255	T	0.010644	0.27409	T	0.103	0.29403	.	.	0.455173453901	0.45141	0.7485670205813343	0.74802	0.118582671518	0.13357	0.423137962818	0.28268	T	0.022555	0.17371	T	-0.37082	0.03553	T	-0.355874	0.38531	T	0.0402197153895296	0.03731	T	0.680032	0.28847	T	0.4717879	0.65400	0.48925057	0.70447	0.4717879	0.65400	0.48925057	0.70448	-9.16	0.68721	D	.	.	0.111	0.21503	B	.	.	3.632068	0.51459	23.1	0.98747373813244066	0.45602	0.96388	0.68895	D	AEFBI	0.729070	0.67690	D	0.402176006907151	0.61542	4.356761	0.401422910756283	0.61652	4.368507	0.985384455933843	0.30878	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.57	4.4	0.52402	4.222000	0.58378	7.960000	0.76000	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.9283:0.0:0.0717:0.0	11.184	0.47871	906	0.23090	Calcium uniporter protein, 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	0.004028	0.005051	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.1	2560.12	34	chr4	109684611	.	A	G	2560.12	.	AC=2;AF=0.1;AN=20;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.22;SOR=1.445	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2583,246,0	9	1	0	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N,USP53:NM_001371397:exon14:c.G1941C:p.K647N,USP53:NM_001371399:exon14:c.G1941C:p.K647N,USP53:NM_001371398:exon15:c.G1941C:p.K647N,USP53:NM_019050:exon15:c.G1941C:p.K647N,USP53:NM_001371395:exon16:c.G1941C:p.K647N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	44.1	114	chr4	119271801	.	G	C	44.1	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.6;DP=1014;ExcessHet=0.2348;FS=215.676;InbreedingCoeff=-0.2047;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.6;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,9:96:9:.:.:9,0,1657:.	5	0	2	3
chr4	140562322	140562322	G	A	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon5:c.C680T:p.T227I	.	428	1074	20	0	0	20	0.00922509	.	.	.	698382	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.808	.	0.0005	0.00239617	0.0021	0.0002	0.0006	0.0001	0	0.0005	0	0.0128	0.0018176	281	154602	rs148598275	0.0013	0.0013	0.0009	0.0017	0.0138	0.0013	0.0012	0.0131	0.0129	0	0.0002	7.652e-05	2.519e-05	9.361e-05	0.0066	0.0005	0.0013	0.0138	0.0007	0.0007	0.0006	0.0009	0.0110	0.0006	0.0006	0.0086	0.0078	0.0001	0	0.0001	0.0003	0	0.0003	0.0068	0.0006	0.0005	0.0110	0.004	0.65419	D	0.02	0.58613	D	0.482	0.36779	P	0.506	0.47823	P	0.000000	0.84330	D	0.050047	0.999977	0.53665	D	2.33	0.66821	M	-1.23	0.78860	T	-4.6	0.78976	D	0.913	0.91505	0.194	0.85801	D	0.574	0.84595	D	10	0.028290689	0.00963	T	.	.	.	0.808	0.93777	.	.	0.845090055923	0.84360	0.8954772011848708	0.89518	0.551757818701	0.52012	0.55037343502	0.45910	T	0.401625	0.75888	T	-0.0179814	0.49139	T	0.213071	0.83821	D	0.0599567019056929	0.07161	T	0.845215	0.52386	T	0.84657735	0.87083	0.66189057	0.80186	0.84657735	0.87085	0.66189057	0.80187	-9.762	0.72474	D	.	.	0.529	0.65877	A	.	.	3.296480	0.45235	22.1	0.99816094495634722	0.89973	0.95962	0.66912	D	AEFBHI	0.778488	0.71097	D	0.317027756926512	0.57021	3.868158	0.268756743005512	0.53724	3.539984	0.999999903691702	0.74766	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.530356	0.10902	0	.	.	5.83	4.9	0.63643	7.956000	0.87398	5.479000	0.48717	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	0.0878:0.0:0.9122:0.0	12.504	0.55313	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.002717	0.014620	0.000000	0.008621	0.003049	0.000000	0.05	1338.43	33	chr4	140562322	.	G	A	1338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.687;DP=436;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=2.73;SOR=0.93	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1350,0,1202	9	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	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,29:114:99:.:.:183,0,2703:.	1	0	9	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	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,19:107:99:.:.:139,0,2719:.	0	0	9	1
chr4	150256234	150256234	G	A	exonic	DCLK2	.	nonsynonymous SNV	DCLK2:NM_001040260:exon16:c.G2288A:p.R763H,DCLK2:NM_001040261:exon17:c.G2339A:p.R780H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.203025961682	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421294372	2.725e-05	0.0003	3.189e-05	2.245e-05	0.0001	2.01e-05	1.755e-05	4.226e-05	2.57e-05	0	0.0001	4.303e-05	0.0001	0	0	2.552e-05	1.799e-05	0	7.224e-06	0.0001	0	1.491e-05	1.542e-05	0	0	.	.	0	0	0	0	0	0	0	1.542e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.989	0.66517	D	0.375	0.50152	B	0.002117	0.37227	N	0.122062	0.88572	0.35844	D	1.39	0.34934	L	-0.3	0.67874	T	-0.27	0.13805	N	0.257	0.36148	-0.5293	0.67568	T	0.234	0.60075	T	10	0.27824995	0.45394	T	0.203026	0.86853	D	0.143	0.38195	0.271	0.22052	0.745666496146	0.74337	0.29864279845267555	0.29777	0.976763722486	0.73591	0.801798343658	0.82237	T	0.018137	0.14677	T	0.0124966	0.53366	T	-0.219826	0.52753	T	0.957317352294922	0.64979	D	0.869813	0.57430	D	0.19795835	0.41680	0.16195197	0.37644	0.19795835	0.41680	0.16195197	0.37643	-4.713	0.33979	T	.	.	0.193	0.49816	B	.;.;.	.;.;.	4.559779	0.71841	25.7	0.99810459255916262	0.89442	0.96766	0.70824	D	AEFDBI	0.723170	0.67287	D	0.375788672395939	0.60111	4.196746	0.41037635001282	0.62210	4.432726	0.999999769912673	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.66	4.66	0.57857	6.258000	0.72447	7.172000	0.57728	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1893:0.8107:0.0	11.016	0.46903	790	0.46189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	71.06	24	chr4	150256234	.	G	A	71.06	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.908;DP=281;ExcessHet=0;FS=11.781;InbreedingCoeff=-0.0815;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.766;SOR=3.521	GT:AD:DP:GQ:PL	0/1:16,8:24:82:82,0,341	8	0	1	1
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	504.2	65	chr4	168898668	.	T	C	504.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.282;DP=732;ExcessHet=2.8389;FS=90.232;InbreedingCoeff=-0.3343;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.44;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,22:87:99:0|1:168898668_T_C:113,0,1796:168898668	5	0	5	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1321.94	65	chr4	168898669	.	G	A	1321.94	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.208;DP=795;ExcessHet=7.0302;FS=119.457;InbreedingCoeff=-0.5379;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=0.663;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,34:86:99:0|1:168898668_T_C:497,0,725:168898668	3	0	7	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	495.27	103	chr4	176711629	.	G	C	495.27	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.125;DP=738;ExcessHet=2.8389;FS=92.991;InbreedingCoeff=-0.355;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.696;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,17:64:99:0|1:176711629_G_C:124,0,1674:176711629	5	0	5	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	630.24	103	chr4	176711631	.	G	C	630.24	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-1.638;DP=842;ExcessHet=7.0302;FS=94.732;InbreedingCoeff=-0.6311;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.219;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,17:64:99:0|1:176711629_G_C:124,0,1674:176711629	2	0	7	1
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	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:189953101_C_T:45,0,520:189953101	2	0	8	0
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	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:189953101_C_T:45,0,520:189953101	2	0	8	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.1	1468.99	61	chr5	840546	.	A	G	1468.99	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.664;DP=1302;ExcessHet=0.2348;FS=11.033;InbreedingCoeff=-0.0938;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-17.52;QD=2.73;ReadPosRankSum=-4.324;SOR=2.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,15:223:4:0|1:840529_G_C:4,0,8465:840529	8	0	2	0
chr5	1201691	1201691	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon1:c.G41A:p.R14Q	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	1	1516	5	0	0	5	0.00164636	.	.	.	438573	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.360	.	0.0003	0.00938498	0.0040	0.0013	9.289e-05	0.0418	0	4.969e-05	0.0040	0.0053	0.0034411	532	154602	rs147458082	0.0012	0.0012	0.0011	0.0013	0.0281	0.0012	0.0011	0.0267	0.0261	0.0003	0.0002	0	0.0281	0	0.0025	8.185e-05	0.0019	0.0048	0.0018	0.0018	0.0015	0.0021	0.0390	0.0016	0.0016	0.0346	0.0329	0.0008	0	6.531e-05	0	0.0390	0	0	1.47e-05	0.0014	0.0068	0.38	0.11191	T	0.429	0.13752	T	0.996	0.68779	D	0.79	0.57710	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.425	0.70256	M	-0.84	0.74265	T	-0.51	0.15986	N	0.416	0.45615	-0.6240	0.63823	T	0.164	0.50111	T	10	0.0055764914	0.00123	T	.	.	.	0.360	0.68052	.	.	0.835705287042	0.83414	0.6509048960516874	0.65026	0.804611782485	0.66408	0.572321593761	0.49006	T	0.109616	0.42363	T	-0.253519	0.13669	T	-0.106239	0.62910	T	0.0312546300191037	0.02186	T	0.964504	0.86839	D	0.22184502	0.44771	0.1228755	0.29636	0.22184502	0.44771	0.1228755	0.29636	-3.997	0.23759	T	.	.	0.258	0.49245	B	.	.	4.493102	0.70201	25.5	0.99390535947709602	0.62337	0.97360	0.74257	D	AEFDGBHCI	0.931188	0.91962	D	0.314111036751437	0.56871	3.852732	0.278213668517385	0.54271	3.592467	0.999999999999973	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.03	4.03	0.46115	6.424000	0.73282	11.401000	0.92668	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	16.352	0.83048	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	1	0	0	0	0	1	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.003788	0.05	1318.43	36	chr5	1201691	.	G	A	1318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.383;DP=412;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.551;SOR=0.562	GT:AD:DP:GQ:PL	0/1:27,56:83:99:1330,0,467	9	0	1	0
chr5	16676138	16676138	G	A	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon34:c.C4559T:p.S1520L	.	437	1066	19	0	0	19	0.0088331	.	.	.	699001	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0075	0.00379393	0.0083	0.0018	0.0029	0	0.0162	0.0100	0.0101	0.0104	0.0081823	1265	154602	rs61744227	0.0098	0.0098	0.0099	0.0098	0.0105	0.0097	0.0096	0.0102	0.0102	0.0010	0.0026	0.0154	0	0.0146	0.0050	0.0104	0.0091	0.0105	0.0074	0.0074	0.0070	0.0077	0.0114	0.0070	0.0069	0.0092	0.0090	0.0022	0.0011	0.0039	0.0164	0	0.0170	0.0034	0.0098	0.0043	0.0114	0.288	0.15098	T	0.322	0.30631	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.93	0.44065	T	-1.32	0.42384	N	0.232	0.26717	-1.0374	0.18109	T	0.044	0.18989	T	9	0.0017369092	0.00022	T	.	.	.	0.037	0.09474	.	.	0.306695030598	0.30287	0.34434791163501755	0.34348	0.158956117107	0.17935	0.385757118464	0.23070	T	0.029587	0.41255	T	-0.655944	0.00067	T	-0.705599	0.05525	T	0.00464057159125389	0.00050	T	0.914109	0.69400	D	0.07779695	0.17678	0.049733408	0.07660	0.07779695	0.17678	0.049733408	0.07660	-8.657	0.65464	D	.	.	0.057	0.03301	B	.;.;.;.	.;.;.;.	1.630669	0.20822	14.92	0.98931817611146089	0.48769	0.24064	0.22276	N	AEFDBI	0.191428	0.31862	N	-0.728616144975346	0.15220	0.7651713	-0.655040653138761	0.18089	0.9648197	0.999991440263865	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.31	3.27	0.36580	1.956000	0.40007	3.904000	0.40368	0.676000	0.76740	0.016000	0.19238	0.727000	0.26391	0.990000	0.65344	0.1845:0.1421:0.6734:0.0	6.361	0.20630	757	0.50970	.;.;.;.	.	.	.	.	rs61744227	Likely benign	0	0	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	0.007049	0.000000	0.001359	0.011696	0.000000	0.000000	0.006098	0.026515	0.1	4485.12	39	chr5	16676138	.	G	A	4485.12	.	AC=2;AF=0.1;AN=20;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.1;SOR=0.881	GT:AD:DP:GQ:PL	1/1:0,149:149:99:4508,447,0	9	1	0	0
chr5	16701687	16701687	A	G	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon25:c.T2708C:p.M903T	.	424	1053	43	2	0	47	0.02183	.	.	.	721367	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0067	0.00559105	0.0087	0.0013	0.0033	0	0.0154	0.0095	0.0125	0.0155	0.0083893	1297	154602	rs112696559	0.0090	0.0090	0.0088	0.0092	0.0163	0.0089	0.0088	0.0156	0.0153	0.0011	0.0030	0.0128	0	0.0134	0.0116	0.0089	0.0086	0.0163	0.0069	0.0069	0.0065	0.0073	0.0135	0.0065	0.0064	0.0108	0.0099	0.0019	0	0.0048	0.0135	0.0004	0.0166	0.0068	0.0087	0.0057	0.0135	0.4	0.13610	T	0.554	0.18449	T	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.964229	0.28599	N	0.69	0.16971	N	3.74	0.03951	T	-0.92	0.24676	N	0.378	0.41952	-0.9571	0.39717	T	0.006	0.02168	T	9	0.0068617463	0.00156	T	.	.	.	0.058	0.16647	.	.	0.194818534648	0.19098	0.22097497657065052	0.22012	0.21400552023	0.23928	0.455447763205	0.32688	T	0.021735	0.35061	T	-0.542244	0.00325	T	-0.538047	0.18489	T	0.00228667530795449	0.00024	T	0.79692	0.45144	T	0.126287	0.29583	0.11764603	0.28399	0.126287	0.29583	0.11764603	0.28398	-4.884	0.35555	T	.	.	0.386	0.58768	A	.;.;.;.	.;.;.;.	2.563368	0.33199	19.27	0.81753118547958681	0.13842	0.94846	0.62532	D	AEFBI	0.535976	0.55438	D	-0.555200458049924	0.20321	1.070366	-0.3518589487953	0.26451	1.461131	0.999976648366733	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.0	3.82	0.43153	3.747000	0.54853	3.430000	0.38309	-0.095000	0.16041	1.000000	0.71638	0.989000	0.31174	0.980000	0.58198	0.7044:0.1512:0.0:0.1444	7.293	0.25554	814	0.42100	Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain	.	.	.	.	rs112696559	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.034091	0.1	3277.12	38	chr5	16701687	.	A	G	3277.12	.	AC=2;AF=0.1;AN=20;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.07;SOR=0.912	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3300,327,0	9	1	0	0
chr5	53065952	53065952	G	A	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon15:c.G1918A:p.A640T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0223998149662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.587e-06	6.569e-06	0	1.349e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.61437	D	0.022	0.57587	D	.	.	.	.	.	.	0.003228	0.35241	N	0.310055	0.992577	0.41683	D	.	.	.	0.93	0.44065	T	-2.53	0.54864	D	0.835	0.83066	-0.7178	0.59570	T	0.177	0.52146	T	10	0.8124682	0.80517	D	0.022	0.45285	T	0.277	0.59375	0.593	0.72247	0.794230233366	0.79231	0.8503155894196922	0.84993	0.522854307783	0.50003	0.531628251076	0.43264	T	.	.	.	0.168196	0.70957	D	0.00382604	0.70583	D	0.935711026191711	0.60415	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.51288	B	.	.	4.282433	0.65240	24.8	0.99893273533942306	0.96666	0.98369	0.82077	D	AEFDBI	0.864944	0.78389	D	0.677798442973819	0.78178	6.819456	0.693270772484928	0.81867	7.628317	0.999999894462443	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.631000	0.82408	10.001000	0.83042	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8399:0.1601	13.064	0.58434	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	502.43	36	chr5	53065952	.	G	A	502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.351;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.158;SOR=0.678	GT:AD:DP:GQ:PL	0/1:23,20:43:99:514,0,572	9	0	1	0
chr5	69282761	69282761	A	G	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_176816:exon12:c.T1504C:p.S502P,CCDC125:NM_001297697:exon13:c.T1129C:p.S377P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0217005048708	.	.	8.284e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs772395128	6.901e-07	6.84e-07	0	1.389e-06	9.023e-07	0	0	.	.	0	0	0	0	0	0	9.023e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	0.996	0.68779	D	0.953	0.69275	D	0.089465	0.20426	N	0.457585	1	0.29477	N	2.56	0.74772	M	0.36	0.57880	T	-2.32	0.51478	N	0.364	0.40665	-0.8202	0.53921	T	0.265	0.63652	T	10	0.15316424	0.28917	T	0.021701	0.44504	T	0.223	0.52023	0.173	0.07894	0.277730125212	0.27379	0.1623092405321315	0.16150	0.150254237607	0.16946	0.37063986063	0.20923	T	0.016616	0.13699	T	0.0669078	0.60471	T	-0.141668	0.59974	T	0.389276564687664	0.28537	T	.	.	.	0.17072551	0.37664	0.26639032	0.52483	0.17072551	0.37664	0.26639032	0.52482	-10.803	0.78566	D	.	.	0.136	0.44860	B	.;.;.	.;.;.	3.697404	0.52717	23.3	0.99042793676589636	0.51073	0.72642	0.35549	D	AEFDBI	0.165794	0.29232	N	0.0121325804331214	0.42405	2.554483	-0.132299589107021	0.34097	1.957535	0.964725092143671	0.28780	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.15	2.72	0.31179	1.775000	0.38213	6.051000	0.53092	-0.041000	0.17446	0.997000	0.40164	1.000000	0.68203	0.975000	0.56047	0.689:0.1592:0.0:0.1518	6.757	0.22707	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	476.43	33	chr5	69282761	.	A	G	476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=353;ExcessHet=0;FS=1.389;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.092;SOR=1.096	GT:AD:DP:GQ:PL	0/1:23,18:41:99:488,0,590	9	0	1	0
chr5	71641018	71641018	G	A	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_001363147:exon10:c.G901A:p.V301M,MCCC2:NM_022132:exon11:c.G1015A:p.V339M	3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive	14	1489	19	0	0	19	0.00633967	.	.	YES	200099	Inborn_genetic_diseases|Methylcrotonyl-CoA_carboxylase_deficiency|MCCC2-related_disorder|See_cases|3-methylcrotonyl-CoA_carboxylase_2_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6|.|.|MONDO:MONDO:0008862,MedGen:C1859499,OMIM:210210,Orphanet:6|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.951	0.552902967619	0.0007	0.000399361	0.0007	0.0004	0.0008	0.0001	0	0.0009	0.0011	0.0004	0.0006209	96	154602	rs150591260	0.0007	0.0007	0.0007	0.0007	0.0161	0.0006	0.0006	0.0135	0.0125	0.0005	0.0011	0.0019	0	0	0.0161	0.0006	0.0013	0.0003	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0012	0.0020	0	0	0.0170	0.0007	0.0028	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.053606	1	0.81001	D	4.095	0.97289	H	-3.52	0.97902	D	-2.77	0.58733	D	0.926	0.95491	1.044	0.97984	D	0.980	0.99369	D	10	0.69405407	0.72032	D	0.552903	0.95886	D	0.951	0.99091	.	.	0.988532514602	0.98841	0.8852258778779706	0.88491	0.496460688203	0.48154	0.741402387619	0.73180	T	0.30111	0.99592	T	0.308147	0.83604	D	0.613507	0.97333	D	0.269726306200027	0.23736	T	0.952105	0.82030	D	0.8424749	0.86786	0.74256057	0.84783	0.8380579	0.86471	0.7515656	0.85317	-11.1	0.80203	D	0.5977790462010975	0.66470	0.503	0.64736	A	.;.;.	.;.;.	5.403562	0.90479	31	0.99862142229508544	0.94093	0.99135	0.91741	D	AEFBI	0.922878	0.89852	D	1.12939152535828	0.98643	18.89092	1.02725061112506	0.99087	20.61348	0.999999719922571	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.65	5.65	0.86881	9.280000	0.94994	11.743000	0.95236	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.503	0.90839	441	0.80015	Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.05	1143.43	35	chr5	71641018	.	G	A	1143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.175;SOR=0.732	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1155,0,1031	9	0	1	0
chr5	76590467	76590467	G	A	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_001285460:exon7:c.G550A:p.V184I,IQGAP2:NM_006633:exon8:c.G700A:p.V234I	.	421	1067	33	1	0	35	0.0161365	.	.	.	721531	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0027	0.00978435	0.0062	0.0004	0.0035	0.0174	0.0008	0.0041	0.0088	0.0167	0.0058279	901	154602	rs147531108	0.0049	0.0049	0.0045	0.0054	0.0158	0.0048	0.0048	0.0151	0.0148	0.0007	0.0036	0.0159	0.0088	0.0018	0.0134	0.0038	0.0080	0.0158	0.0041	0.0041	0.0042	0.0040	0.0168	0.0038	0.0037	0.0138	0.0127	0.0008	0	0.0057	0.0144	0.0141	0.0016	0.0170	0.0037	0.0090	0.0168	0.241	0.17643	T	0.464	0.19188	T	0.0	0.02946	B	0.001	0.04355	B	0.008709	0.30705	N	0.381500	1	0.81001	D	0.095	0.08423	N	3.34	0.06063	T	0.46	0.03297	N	0.076	0.09772	-0.9004	0.47952	T	0.006	0.02131	T	10	0.0035094917	0.00063	T	.	.	.	0.012	0.01476	.	.	0.187945064343	0.18414	0.1174834492133751	0.11676	0.138224808436	0.15579	0.261363267899	0.05054	T	0.063779	0.32263	T	-0.632718	0.00092	T	-0.668658	0.07694	T	0.000572827696038485	0.00005	T	0.70313	0.31322	T	0.015900847	0.00164	0.029837972	0.01366	0.015900847	0.00164	0.029837972	0.01366	-3.59	0.17713	T	.	.	0.060	0.00949	B	.;.;.;.	.;.;.;.	-0.377305	0.02298	0.242	0.83716676497288312	0.14880	0.13282	0.17767	N	AEFGBCI	0.198798	0.32563	N	-1.19704248185327	0.05045	0.2290705	-1.18284413075194	0.06196	0.2974806	0.999999545259407	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.709663	0.75317	0	0.663205	0.64265	0	.	.	5.71	-3.5	0.04411	0.360000	0.19987	-1.118000	0.06277	-0.697000	0.04075	0.016000	0.19238	0.000000	0.08366	0.348000	0.25613	0.4657:0.3452:0.1891:0.0	6.325	0.20445	858	0.34001	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015609	0.000000	0.014946	0.005848	0.000000	0.034483	0.021341	0.026515	0.05	808.43	35	chr5	76590467	.	G	A	808.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.53;DP=364;ExcessHet=0;FS=2.556;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.47;SOR=0.705	GT:AD:DP:GQ:PL	0/1:16,35:51:99:820,0,318	9	0	1	0
chr5	96412379	96412379	C	T	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.G821A:p.G274E,PCSK1:NM_001177875:exon7:c.G680A:p.G227E	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.397258178762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.9	0.96120	H	-1.51	0.81399	D	-7.85	0.96058	D	0.951	0.99337	0.741	0.93688	D	0.769	0.92136	D	10	0.9849795	0.98724	D	0.397258	0.93319	D	0.931	0.98378	0.922	0.98638	0.938916910738	0.93828	0.9163316288740364	0.91608	1.06453759518	0.76590	0.914874970913	0.97909	D	0.847666	0.96503	D	0.441475	0.92094	D	0.396372	0.91996	D	0.999790370464325	0.99036	D	0.989301	0.96450	D	0.9669098	0.97966	0.97170174	0.99537	0.9669098	0.97966	0.97170174	0.99537	-14.741	0.95521	D	.	.	1.000	0.99585	P	.;.	.;.	5.269897	0.88488	29.6	0.99815560568110473	0.89885	0.97918	0.78116	D	AEFDBI	0.957879	0.97732	D	0.983981381821718	0.95231	13.42687	0.919329788502389	0.96361	14.60398	0.999999999997265	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.15	0.93468	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic 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	.	.	.	.	.	.	.	.	0.05	35.47	66	chr5	96412379	.	C	T	35.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.514;DP=697;ExcessHet=0;FS=74.636;InbreedingCoeff=-0.056;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=0.891;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,25:152:47:0|1:96412379_C_T:47,0,4265:96412379	9	0	1	0
chr5	96412380	96412380	C	T	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.G820A:p.G274R,PCSK1:NM_001177875:exon7:c.G679A:p.G227R	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40395133694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.9	0.96120	H	-1.51	0.81399	D	-7.85	0.96058	D	0.949	0.99100	0.823	0.94700	D	0.790	0.92896	D	10	0.98368526	0.98520	D	0.403951	0.93457	D	0.929	0.98304	0.914	0.98346	0.94146576268	0.94086	0.9268507850302136	0.92663	1.02087520744	0.75113	0.918705880642	0.98223	D	0.835304	0.96107	D	0.442034	0.92117	D	0.397175	0.92020	D	0.999790370464325	0.99036	D	0.992876	0.97681	D	0.9671122	0.97986	0.944418	0.98053	0.9671122	0.97986	0.944418	0.98053	-14.313	0.94520	D	.	.	0.999	0.98504	P	.;.	.;.	5.439492	0.90915	32	0.99946147601129243	0.99901	0.97918	0.78116	D	AEFDBI	0.956575	0.97521	D	1.02105448582345	0.96356	14.596	0.943111103787272	0.97191	15.730	0.999999999997265	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.15	0.93468	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic 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	.	.	.	.	.	.	.	.	0.0625	36.81	81	chr5	96412380	.	C	T	36.81	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.517;DP=859;ExcessHet=0;FS=74.636;InbreedingCoeff=-0.1168;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=0.94;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,25:152:47:0|1:96412379_C_T:47,0,4265:96412379	7	0	1	2
chr5	96695837	96695837	A	G	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001042440:exon3:c.A140G:p.K47R,CAST:NM_001042441:exon3:c.A140G:p.K47R,CAST:NM_001042442:exon3:c.A140G:p.K47R,CAST:NM_001330626:exon3:c.A140G:p.K47R,CAST:NM_001330627:exon3:c.A140G:p.K47R,CAST:NM_001330628:exon3:c.A95G:p.K32R,CAST:NM_001330629:exon3:c.A95G:p.K32R,CAST:NM_001375317:exon3:c.A95G:p.K32R,CAST:NM_001750:exon3:c.A140G:p.K47R	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	.	.	.	.	.	.	.	0.8976	0.568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0492922686789	.	.	9.103e-06	0	0	0	0	0	0	6.889e-05	6.5e-06	1	154602	rs751186352	2.743e-06	2.736e-06	0	5.513e-06	3.489e-05	6.4e-07	4.3e-07	9.27e-06	4.57e-06	0	0	0	2.523e-05	0	0	0	0	3.489e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	.	.	.	0.71	0.51228	T	-1.18	0.30140	N	0.283	0.34981	-0.8109	0.54496	T	0.253	0.62326	T	9	0.1811924	0.33339	T	0.049292	0.63750	D	0.100	0.28662	0.135	0.03920	0.571380689955	0.56804	0.042769073550626854	0.04221	0.100344466866	0.11344	0.385840952396	0.23081	T	0.021744	0.18650	T	-0.218697	0.18170	T	-0.370391	0.36844	T	0.62507188477478	0.37414	D	0.906909	0.67118	D	.	.	.	.	.	.	.	.	-5.276	0.41633	T	.	.	0.120	0.27642	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.674656	0.74743	26.2	0.99800154798183482	0.88461	0.90264	0.51303	D	AEBI	0.527914	0.54966	D	0.487879253092199	0.66380	4.942745	0.489212076552615	0.67273	5.062049	0.999999700405032	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.03	5.03	0.67015	3.851000	0.55634	7.495000	0.59416	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	11.350	0.48820	890	0.26919	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	453.43	33	chr5	96695837	.	A	G	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.559;DP=347;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:23,20:43:99:465,0,585	9	0	1	0
chr5	110640969	110640969	A	T	exonic	TMEM232	.	nonsynonymous SNV	TMEM232:NM_001039763:exon4:c.T265A:p.S89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00292549856556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220763424	8.684e-06	8.209e-06	4.28e-06	1.322e-05	0.0002	4.63e-06	3.66e-06	6.201e-05	4.652e-05	0	0	0	0	0	0.0002	0	3.497e-05	0.0001	6.569e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.584	0.06106	T	0.186	0.30631	T	0.008	0.14655	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.72	0.24676	N	0.148	0.15046	-1.0179	0.24398	T	0.065	0.26878	T	7	0.029526472	0.01079	T	0.002925	0.06192	T	0.038	0.09825	0.186	0.09517	0.0138822411134	0.00435	0.02203804810128695	0.02155	.	.	0.252247542143	0.04008	T	0.005684	0.05129	T	-0.321074	0.06810	T	-0.50066	0.22280	T	0.0352388796809914	0.02849	T	0.429357	0.11628	T	0.073508196	0.16430	0.07548655	0.16623	0.073508196	0.16430	0.07548655	0.16623	-4.117	0.25540	T	.	.	0.078	0.07793	B	.;.;.;.	.;.;.;.	0.282579	0.06594	3.085	0.26746208929224174	0.01295	0.04027	0.09462	N	AEFI	0.057605	0.10746	N	-0.885740717179909	0.11181	0.5382066	-0.876815858888737	0.12644	0.6516169	1.15848290477671E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.87	0.014	0.13420	0.902000	0.28088	0.532000	0.19257	0.691000	0.84096	0.027000	0.20232	0.000000	0.08366	0.307000	0.24666	0.6771:0.2033:0.0:0.1196	8.972	0.35072	899	0.25060	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1337.43	34	chr5	110640969	.	A	T	1337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.789;DP=395;ExcessHet=0;FS=4.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.368;SOR=0.39	GT:AD:DP:GQ:PL	0/1:34,58:92:99:1349,0,731	9	0	1	0
chr5	133099561	133099561	C	G	exonic	HSPA4	.	nonsynonymous SNV	HSPA4:NM_002154:exon16:c.C1946G:p.T649S	.	429	1067	26	0	0	26	0.012037	.	.	.	698787	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0042	0.0061901	0.0058	0.0010	0.0030	0.0002	0.0033	0.0052	0.0066	0.0174	0.0057308	886	154602	rs61755723	0.0051	0.0052	0.0045	0.0056	0.0169	0.0050	0.0049	0.0161	0.0159	0.0010	0.0033	0.0020	5.068e-05	0.0037	0.0080	0.0046	0.0049	0.0169	0.0050	0.0050	0.0048	0.0052	0.0197	0.0047	0.0046	0.0165	0.0153	0.0011	0.0493	0.0038	0.0006	0	0.0040	0.0068	0.0068	0.0052	0.0197	0.478	0.08286	T	0.429	0.13752	T	0.002	0.09854	B	0.004	0.10090	B	0.000028	0.55875	N	0.160338	0.68748	0.33293	D	-0.71	0.01811	N	2.6	0.13204	T	-0.51	0.15986	N	0.174	0.18649	-1.0056	0.28277	T	0.010	0.03582	T	10	0.0036255717	0.00066	T	.	.	.	0.057	0.16321	0.249	0.18602	0.196089822672	0.19227	0.10264040857227065	0.10194	0.202026147214	0.22620	0.415988326073	0.27284	T	0.267413	0.63945	T	-0.638053	0.00086	T	-0.675669	0.07250	T	0.00821585098133613	0.00098	T	0.749425	0.37642	T	0.0437325	0.06868	0.050734777	0.08024	0.0437325	0.06868	0.050734777	0.08024	-1.711	0.02258	T	.	.	0.083	0.10883	B	.;.	.;.	2.578094	0.33423	19.33	0.95377103350930414	0.26797	0.97333	0.74089	D	AEFBI	0.784843	0.71540	D	-0.392783904220302	0.25725	1.398639	-0.147282840296757	0.33514	1.918	0.930782197195098	0.27021	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	4.25	0.49658	4.682000	0.61360	4.926000	0.46086	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.847:0.0:0.153	10.161	0.42026	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	0	0	1	0	0.008560	0.005051	0.006793	0.008824	0.000000	0.000000	0.006098	0.022727	0.05	384.43	34	chr5	133099561	.	C	G	384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=352;ExcessHet=0;FS=1.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-2.275;SOR=1.096	GT:AD:DP:GQ:PL	0/1:27,16:43:99:396,0,674	9	0	1	0
chr5	133220831	133220831	C	T	exonic	FSTL4	.	nonsynonymous SNV	FSTL4:NM_015082:exon12:c.G1375A:p.D459N	.	432	1076	13	1	0	15	0.00692201	.	.	.	698788	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.115	0.0117611001569	0.0061	0.00239617	0.0062	0.0028	0.0021	0	0.0062	0.0080	0.0077	0.0073	0.0061966	958	154602	rs140221506	0.0076	0.0077	0.0076	0.0077	0.0082	0.0075	0.0075	0.0081	0.0080	0.0019	0.0032	0.0100	0.0001	0.0079	0.0049	0.0082	0.0071	0.0077	0.0063	0.0064	0.0063	0.0064	0.0095	0.0060	0.0059	0.0088	0.0086	0.0018	0.0022	0.0050	0.0075	0	0.0083	0.0170	0.0095	0.0061	0.0079	0.081	0.33418	T	0.176	0.32675	T	0.555	0.38231	P	0.072	0.28043	B	0.000119	0.50451	N	0.199882	0.999979	0.53665	D	1.59	0.40313	L	1.55	0.29866	T	-3.51	0.68298	D	0.404	0.44570	-1.0246	0.22214	T	0.096	0.36029	T	10	0.007791519	0.00177	T	0.011761	0.29704	T	0.115	0.32236	.	.	0.34707237187	0.34319	0.38779129765917475	0.38694	0.266224386243	0.29168	0.577506661415	0.49735	T	0.523491	0.83379	D	-0.543929	0.00317	T	-0.542416	0.18060	T	0.0285788373820882	0.01774	T	0.836816	0.50885	T	0.23058847	0.45816	0.1612464	0.37517	0.23058847	0.45816	0.1612464	0.37516	-5.321	0.46422	T	.	.	0.091	0.13080	B	.;.	.;.	2.016703	0.25627	16.83	0.9983343501885944	0.91456	0.95919	0.66721	D	AEFDBIJ	0.586019	0.58422	D	0.118821980027599	0.47340	2.961171	0.102776075554311	0.44690	2.745912	0.999999995827743	0.74766	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.447301	0.06993	0	.	.	5.48	4.6	0.56512	4.691000	0.61424	0.598000	0.19894	0.549000	0.26987	1.000000	0.71638	0.088000	0.22492	0.376000	0.26245	0.0:0.9246:0.0:0.0754	13.541	0.61134	887	0.27948	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.020202	0.004076	0.000000	0.000000	0.017241	0.000000	0.007576	0.05	2091.43	34	chr5	133220831	.	C	T	2091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=481;ExcessHet=0;FS=4.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.555;SOR=1.036	GT:AD:DP:GQ:PL	0/1:85,86:171:99:2103,0,1794	9	0	1	0
chr5	139397093	139397094	TC	-	exonic	SPATA24	.	stopgain	SPATA24:NM_194296:exon5:c.435_436del:p.N146*	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0002	0	0.0005	3.88e-05	6	154602	rs750385001	9.502e-05	9.098e-05	8.741e-05	0.0001	0.0033	8.171e-05	7.629e-05	0.0022	0.0018	0.0003	8.402e-05	0.0002	0	0	0.0033	5.931e-05	0.0003	0.0002	5.256e-05	5.253e-05	1.285e-05	9.413e-05	0.0002	2.557e-05	1.83e-05	1.171e-05	6.25e-06	4.824e-05	0.0011	0	0	0	0	0.0032	4.411e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002193	0.000000	0.000000	0.004167	0.000000	0.000000	0.000000	0.000000	0.05	1108.39	40	chr5	139397092	.	TTC	T	1108.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.747;DP=419;ExcessHet=0;FS=3.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.054;SOR=0.898	GT:AD:DP:GQ:PL	0/1:34,30:64:99:1120,0,1264	9	0	1	0
chr5	140671309	140671309	G	C	exonic	DND1	.	nonsynonymous SNV	DND1:NM_194249:exon4:c.C1046G:p.T349S	.	403	1044	75	0	0	75	0.0346741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00299662886539	.	.	0.0003	0.0001	0	0	0	0.0005	0	0	0.0002135	33	154602	rs201638404	2.076e-05	0.0028	1.515e-05	2.644e-05	0.0019	1.473e-05	1.278e-05	0.0010	0.0008	0	0	3.843e-05	0	9.62e-05	0.0019	9.11e-06	0	4.646e-05	6.594e-06	0.0002	1.289e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.218	0.19090	T	0.063	0.45110	T	0.0	0.02946	B	0.001	0.04355	B	0.987573	0.07881	N	1.006470	1	0.08975	N	0.695	0.17993	N	1.54	0.30133	T	-0.59	0.17624	N	0.037	0.01135	-1.0009	0.29660	T	0.040	0.17362	T	10	0.034810185	0.01704	T	0.002997	0.06427	T	0.029	0.06676	0.1	0.01484	0.161926535498	0.15789	0.40438706048263123	0.40354	0.637984465512	0.57542	0.34559237957	0.17271	T	0.102753	0.41077	T	-0.360183	0.04119	T	-0.755154	0.03289	T	0.0211142783198718	0.00813	T	0.279972	0.04873	T	0.042993844	0.06623	0.025890457	0.00652	0.042993844	0.06622	0.025890457	0.00652	-2.879	0.08935	T	.	.	0.074	0.05017	B	.	.	1.151131	0.15394	11.82	0.72799346766082673	0.10100	0.21105	0.21283	N	AEFDGBCI	0.089470	0.18134	N	-0.982930631239168	0.08968	0.4225575	-0.985513379254524	0.10110	0.5071382	0.999349824977441	0.39222	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.635551	0.53088	0	.	.	4.97	0.117	0.13957	0.698000	0.25249	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.697000	0.34049	0.3271:0.0:0.5115:0.1614	3.914	0.08714	176	0.93188	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	33	chr5	140671309	.	G	C	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=404;ExcessHet=0;FS=19.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.58;MQRankSum=-7.689;QD=0.5;ReadPosRankSum=-3.56;SOR=4.093	GT:AD:DP:GQ:PL	0/1:74,9:83:53:53,0,2034	9	0	1	0
chr5	140803137	140803137	T	C	exonic	PCDHA3	.	nonsynonymous SNV	PCDHA3:NM_018906:exon1:c.T1940C:p.L647P,PCDHA3:NM_031497:exon1:c.T1940C:p.L647P	.	427	1089	6	0	0	6	0.00274725	.	.	.	3212710	PCDHA3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.523	0.243787462749	0.0009	0.000998403	0.0010	9.709e-05	0.0023	0	0	0.0010	0.0022	0.0011	0.0008861	137	154602	rs149374718	0.0006	0.0006	0.0006	0.0007	0.0088	0.0006	0.0006	0.0069	0.0062	0.0006	0.0021	0.0029	0	5.638e-05	0.0088	0.0004	0.0014	0.0008	0.0006	0.0006	0.0007	0.0005	0.0020	0.0005	0.0005	0.0014	0.0012	9.619e-05	0.0022	0.0020	0.0023	0	0	0.0034	0.0005	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.014402	0.28541	U	0.000000	1	0.81001	D	4.18	0.97724	H	0.26	0.59314	T	-6.37	0.92042	D	0.863	0.88137	0.423	0.89444	D	0.497	0.80941	T	10	0.13322487	0.25357	T	0.243787	0.88816	D	0.523	0.79765	.	.	0.909870636381	0.90897	0.8673886149845436	0.86703	.	.	.	.	.	0.43011	0.77868	T	-0.0107486	0.50162	T	0.206236	0.83467	D	0.252943754196167	0.23004	T	0.939406	0.78031	D	0.93062454	0.94300	0.9138477	0.95962	0.93062454	0.94300	0.9138477	0.95963	-11.766	0.83692	D	.	.	0.914	0.85022	P	.;.	.;.	3.377705	0.46710	22.3	0.99751819565832711	0.84305	0.99214	0.92914	D	AEFBI	0.914545	0.87806	D	0.788223455836083	0.85362	8.553761	0.593143958142618	0.74444	6.138645	0.999998610390679	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.32	4.32	0.50899	5.783000	0.68630	.	.	0.605000	0.46263	0.976000	0.34826	0.962000	0.29361	0.049000	0.15107	0.0:0.0:0.0:1.0	13.767	0.62488	18	0.98631	.;Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.006546	0.005051	0.009511	0.005848	0.050000	0.000000	0.003049	0.000000	0.05	3760.43	156	chr5	140803137	.	T	C	3760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.195;DP=1498;ExcessHet=0;FS=1.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.452;SOR=0.692	GT:AD:DP:GQ:PL	0/1:188,157:345:99:3772,0,4766	9	0	1	0
chr5	141189272	141189272	C	T	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.C1954T:p.R652C	.	78	1435	9	0	0	9	0.00312609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0015	0.0006	0.0018	0.0005	0.0002	0.0022	0.0024	0.0005	0.000194	30	154602	rs534535624	0.0037	0.0048	0.0037	0.0037	0.0081	0.0036	0.0036	0.0059	0.0052	0.0010	0.0035	0.0016	0.0001	0.0012	0.0081	0.0042	0.0036	0.0014	0.0043	0.0044	0.0048	0.0039	0.0069	0.0041	0.0040	0.0064	0.0062	0.0019	0	0.0042	0.0035	0.0002	0.0008	0.0034	0.0069	0.0085	0.0019	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0086324215	0.00196	T	.	.	.	.	.	.	.	0.433600339574	0.42977	0.3049119517238209	0.30404	.	.	0.443066358566	0.30996	T	.	.	.	-0.464479	0.00921	T	-0.445516	0.28193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.	.	2.324416	0.29769	18.23	0.97148159929137468	0.32573	0.20372	0.21017	N	AEFI	.	.	.	.	.	.	.	.	.	0.0754974780936962	0.15698	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.062806	0.01542	0	0.614049	0.41051	3.32	1.17	0.19998	1.621000	0.36597	.	.	0.302000	0.18967	0.007000	0.17678	0.000000	0.08366	0.295000	0.24381	0.2915:0.7085:0.0:0.0	11.42	0.49219	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003352	0.000000	0.004087	0.004237	0.000000	0.008772	0.006757	0.000000	0.15	3325.45	123	chr5	141189272	.	C	T	3325.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.05;DP=1074;ExcessHet=0.7463;FS=2.082;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=46.22;MQRankSum=-5.741;QD=7.66;ReadPosRankSum=-0.067;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,33:149:99:0|1:141189271_T_G:1028,0,4771:141189271	7	0	3	0
chr5	141247332	141247332	T	C	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.T1754C:p.L585P	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	.	0.0015	0.00239617	0.0043	0.0005	0.0094	0	0.0002	0.0053	0.0162	0.0020	0.0004916	76	154602	rs200613205	0.0045	0.0045	0.0046	0.0045	0.0194	0.0045	0.0044	0.0159	0.0147	0.0018	0.0087	0.0053	2.523e-05	0.0003	0.0194	0.0049	0.0054	0.0016	0.0035	0.0035	0.0035	0.0034	0.0058	0.0032	0.0031	0.0048	0.0045	0.0010	0	0.0058	0.0058	0	0.0004	0.0068	0.0051	0.0095	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999949	0.51968	D	2.37	0.68279	M	0.7	0.51474	T	-6.7	0.92476	D	0.803	0.79889	-0.4784	0.69426	T	0.276	0.64783	T	9	0.024506003	0.00676	T	.	.	.	0.507	0.78786	.	.	0.771716378111	0.76962	0.7332013691823474	0.73265	1.40351083469	0.85255	0.6692892313	0.62736	T	0.032607	0.22561	T	-0.245524	0.14652	T	-0.119623	0.61833	T	0.0386058951901212	0.03439	T	0.967203	0.88094	D	0.94529605	0.95787	0.90988696	0.95680	0.94529605	0.95787	0.90988696	0.95681	-10.281	0.75577	D	.	.	0.627	0.70007	P	.	.	3.702648	0.52822	23.3	0.99824757429874189	0.90677	0.93573	0.58587	D	AEFBI	0.801118	0.72691	D	0.608887404419376	0.73734	6.015101	0.53627324060847	0.70448	5.506766	0.481477650091747	0.20789	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.02	4.02	0.45968	4.882000	0.62813	.	.	0.493000	0.22426	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.0:1.0	12.957	0.57830	698	0.58074	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	0.018272	0.000000	0.024590	0.042735	0.000000	0.017241	0.006667	0.003937	0.15	2689.45	70	chr5	141247332	.	T	C	2689.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.311;DP=534;ExcessHet=0.7463;FS=2.399;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=41.91;MQRankSum=-1.258;QD=12.99;ReadPosRankSum=-0.072;SOR=0.525	GT:AD:DP:GQ:PL	0/1:38,35:73:99:912,0,1130	7	0	3	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	.	.	.	.	.	.	.	.	0.25	3708.82	169	chr5	141303079	.	C	G	3708.82	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-4.49;DP=1503;ExcessHet=2.8389;FS=221.973;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=2.36;SOR=10.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,45:172:99:0|1:141303079_C_G:737,0,4198:141303079	4	0	4	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	.	.	.	.	.	.	.	.	0.4444	5820.05	170	chr5	141303081	.	A	G	5820.05	.	AC=8;AF=0.444;AN=18;BaseQRankSum=-3.609;DP=2013;ExcessHet=10.3881;FS=210.687;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=1.97;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,45:172:99:0|1:141303079_C_G:737,0,4198:141303079	1	0	8	1
chr5	146171959	146171959	T	C	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317965:exon3:c.A83G:p.K28R,LARS1:NM_001317964:exon4:c.A245G:p.K82R,LARS1:NM_020117:exon4:c.A245G:p.K82R	.	437	1074	9	2	0	13	0.00601573	.	.	.	141780	not_provided|Infantile_liver_failure_syndrome_1|not_specified	MedGen:C3661900|MONDO:MONDO:0024568,MedGen:C3809522,OMIM:615438,Orphanet:370088|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.349	.	0.0037	0.00299521	0.0050	0.0012	0.0027	0.0001	0.0015	0.0055	0.0066	0.0111	0.0050517	781	154602	rs112954500	0.0057	0.0057	0.0055	0.0059	0.0103	0.0056	0.0056	0.0097	0.0095	0.0007	0.0031	0.0019	2.522e-05	0.0020	0.0061	0.0061	0.0060	0.0103	0.0038	0.0038	0.0041	0.0036	0.0075	0.0036	0.0035	0.0055	0.0053	0.0011	0	0.0033	0.0035	0	0.0025	0.0034	0.0060	0.0033	0.0075	0.175	0.22486	T	0.115	0.36901	T	0.004	0.12183	B	0.09	0.29851	B	0.000000	0.84330	D	0.045928	0.999934	0.81001	D	1.87	0.49600	L	-1.05	0.76690	T	-2.2	0.49519	N	0.582	0.72925	-0.3456	0.73681	T	0.322	0.69064	T	10	0.010404259	0.00232	T	.	.	.	0.349	0.67049	.	.	0.714101545948	0.71159	0.6134425457156343	0.61276	0.185243997901	0.20827	0.564296662807	0.47874	T	0.175937	0.52570	T	-0.369996	0.03594	T	-0.296431	0.45101	T	0.0155940450330543	0.00356	T	0.79572	0.43953	T	0.22997892	0.45745	0.19366084	0.42948	0.26109782	0.49167	0.18891732	0.42207	-9.095	0.68305	D	0.2299780390205727	0.31114	0.071	0.04889	B	.;.;.	.;.;.	3.251490	0.44425	21.9	0.99693564151083824	0.80112	0.98629	0.84891	D	AEFBI	0.457668	0.50901	N	0.21524862825499	0.51938	3.371338	0.32198833956274	0.56833	3.847441	0.999738692345606	0.42341	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.678000	0.61331	7.691000	0.65788	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.680	0.77120	855	0.34697	Aminoacyl-tRNA synthetase, class Ia;.;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Likely benign	0	0	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	0.004076	0.002924	0.000000	0.000000	0.018293	0.000000	0.05	804.43	35	chr5	146171959	.	T	C	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=359;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.962;SOR=0.903	GT:AD:DP:GQ:PL	0/1:26,32:58:99:816,0,536	9	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	127.13	71	chr5	146286009	.	G	C	127.13	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.543;DP=724;ExcessHet=0.7463;FS=104.377;InbreedingCoeff=-0.2483;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,15:77:99:.:.:131,0,1077:.	4	0	3	3
chr5	150298468	150298468	G	T	exonic	ARSI	.	nonsynonymous SNV	ARSI:NM_001012301:exon2:c.C456A:p.F152L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.714	0.205618670655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.44694	T	0.051	0.55759	T	0.237	0.30795	B	0.14	0.33554	B	0.000000	0.84330	D	0.000000	0.999929	0.51308	D	1.545	0.39105	L	-4.97	0.98468	D	-3.77	0.71397	D	0.843	0.86191	0.630	0.92288	D	0.877	0.95921	D	10	0.88748795	0.88080	D	0.205619	0.86995	D	0.714	0.89831	0.794	0.91511	0.884139936889	0.88300	0.926654299910491	0.92643	0.699425841073	0.61035	0.814115524292	0.84124	D	0.84243	0.96338	D	0.365883	0.87697	D	0.287789	0.87539	D	0.979547441005707	0.72886	D	0.912209	0.68816	D	0.39090672	0.60096	0.3636952	0.61751	0.39090672	0.60097	0.3636952	0.61751	-7.191	0.55416	T	.	.	0.992	0.94382	P	.;.;.	.;.;.	3.329107	0.45818	22.2	0.99505786569190302	0.68322	0.93634	0.58756	D	AEFBI	0.634753	0.61451	D	-0.0796647352496171	0.38284	2.239974	-0.0117018080072553	0.39186	2.31958	0.99993046428096	0.46732	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.58	2.33	0.27981	3.658000	0.54221	2.929000	0.35606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2231:0.0:0.7769:0.0	8.821	0.34182	814	0.42100	Sulfatase, N-terminal;.;Sulfatase, 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	.	.	.	.	.	.	.	.	0.05	400.43	105	chr5	150298468	.	G	T	400.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.616;DP=1012;ExcessHet=0;FS=99.153;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.46;ReadPosRankSum=1.4;SOR=6.994	GT:AD:DP:GQ:PL	0/1:131,32:163:99:412,0,3185	9	0	1	0
chr5	151566338	151566338	T	A	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon2:c.A2594T:p.K865M	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.01605904716	.	.	9.884e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs746686953	3.762e-05	3.762e-05	2.314e-05	5.225e-05	0.0005	2.96e-05	2.656e-05	0.0004	0.0004	0	0	0	0	0	0	5.396e-06	3.311e-05	0.0005	3.284e-05	3.281e-05	1.285e-05	5.373e-05	0.0002	1.26e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0009	0.0002	0.069	0.35537	T	0.017	0.60337	D	0.243	0.30970	B	0.119	0.32162	B	0.000059	0.53742	D	0.080004	0.746916	0.33885	D	0.61	0.15665	N	0.67	0.52187	T	-1.81	0.42575	N	0.528	0.55713	-0.9628	0.38645	T	0.084	0.32986	T	10	0.12702096	0.24153	T	0.016059	0.37127	T	0.132	0.35948	0.559	0.67821	0.690747205812	0.68809	0.5602822626900289	0.55955	0.279295419156	0.30412	0.483055919409	0.36477	T	0.080491	0.36376	T	-0.358238	0.04230	T	-0.388197	0.34762	T	0.100391877463781	0.12401	T	0.560744	0.19617	T	0.086849034	0.20202	0.08872752	0.20706	0.086849034	0.20202	0.08872752	0.20705	-4.329	0.28582	T	.	.	0.125	0.26419	B	.	.	2.542574	0.32895	19.18	0.98562905207379914	0.42999	0.78731	0.38888	D	AEFGBCI	0.163615	0.28991	N	-0.121037213171069	0.36477	2.109007	0.032711803798687	0.41244	2.474631	0.999991914617467	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.67	4.52	0.54797	3.474000	0.52893	0.685000	0.20714	-0.157000	0.11712	0.956000	0.33378	0.621000	0.25816	0.991000	0.66497	0.136:0.0717:0.0:0.7923	6.667	0.22237	904	0.23766	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	.	.	.	.	.	.	.	.	0.05	2076.43	134	chr5	151566338	.	T	A	2076.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.655;DP=1387;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.141;SOR=0.722	GT:AD:DP:GQ:PL	0/1:80,83:163:99:2088,0,1961	9	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	.	.	.	.	.	.	.	.	0.3125	695.79	120	chr5	154834880	.	G	C	695.79	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=1265;ExcessHet=2.8389;FS=294.497;InbreedingCoeff=-0.4324;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.554;SOR=10.414	GT:AD:DP:GQ:PL	0/1:104,40:166:32:32,0,1680	3	0	5	2
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:302,229:531:99:.:.:8506,0,11894:.	1	4	5	0
chr5	177064650	177064650	C	T	exonic	ZNF346	.	nonsynonymous SNV	ZNF346:NM_001308216:exon4:c.C511T:p.R171C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	9.694e-05	0	0.0001	0	0.0002	0	0.0020	0.0003428	53	154602	rs528150769	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0002	0.0017	0.0016	0.0002	2.251e-05	0	2.571e-05	7.513e-05	0	4.935e-05	0.0004	0.0019	0.0001	0.0001	7.707e-05	0.0001	0.0029	7.084e-05	5.742e-05	0.0018	0.0014	4.81e-05	0	0	0	0	0	0	1.47e-05	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1851.43	34	chr5	177064650	.	C	T	1851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.728;DP=536;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.623;SOR=0.678	GT:AD:DP:GQ:PL	0/1:116,84:200:99:1863,0,2680	9	0	1	0
chr5	178119848	178119848	C	T	exonic	N4BP3	.	nonsynonymous SNV	N4BP3:NM_015111:exon2:c.C265T:p.R89W	.	423	1071	28	0	0	28	0.0129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0012	0.00658946	0.0048	0.0004	0.0015	0.0004	0	0.0019	0.0045	0.0254	0.0042173	652	154602	rs146962131	0.0026	0.0026	0.0020	0.0032	0.0227	0.0025	0.0025	0.0219	0.0215	0.0005	0.0013	0.0069	0.0002	0.0002	0.0078	0.0012	0.0035	0.0227	0.0020	0.0020	0.0017	0.0023	0.0228	0.0018	0.0018	0.0194	0.0181	0.0003	0.0362	0.0027	0.0063	0	0	0	0.0012	0.0014	0.0228	0.002	0.72154	D	0.004	0.74150	D	0.99	0.63424	D	0.306	0.41250	B	0.609281	0.10883	N	0.824734	0.98294	0.39953	D	1.355	0.33814	L	6.7	0.00500	T	-3.2	0.64710	D	0.549	0.57518	-0.1695	0.78440	T	0.002	0.00676	T	10	0.006507933	0.00147	T	.	.	.	0.161	0.41658	.	.	0.495573750707	0.49194	0.2948520595669952	0.29398	0.386809144495	0.39969	0.421651661396	0.28065	T	0.190676	0.54529	T	-0.451319	0.01109	T	-0.402812	0.33058	T	0.0434527799513868	0.04320	T	0.878312	0.59309	D	0.122188926	0.28717	0.1339366	0.32105	0.122188926	0.28717	0.1339366	0.32104	-6.308	0.48785	T	.	.	0.183	0.39748	B	.	.	4.428912	0.68660	25.3	0.99880150957412417	0.95653	0.81072	0.40555	D	AEFDBCI	0.501753	0.53446	D	0.375290659665955	0.60084	4.193801	0.434771537558559	0.63744	4.614519	0.999988595682931	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.662433	0.64102	0	.	.	5.5	5.5	0.81386	2.778000	0.47412	4.017000	0.41215	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1739:0.8261:0.0:0.0	11.920	0.52068	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.009511	0.008772	0.000000	0.025862	0.006098	0.011364	0.05	2301.43	45	chr5	178119848	.	C	T	2301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.559;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.261;SOR=0.671	GT:AD:DP:GQ:PL	0/1:70,95:165:99:2313,0,1510	9	0	1	0
chr5	178120196	178120196	G	A	exonic	N4BP3	.	nonsynonymous SNV	N4BP3:NM_015111:exon3:c.G349A:p.V117M	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0227708778286	.	0.000798722	0.0005	0.0001	0	0	0	0	0	0.0053	0.0004398	68	154602	rs199745108	0.0003	0.0003	0.0001	0.0004	0.0040	0.0002	0.0002	0.0036	0.0035	3.086e-05	0	0	2.557e-05	0	0.0002	9.168e-07	0.0005	0.0040	0.0001	0.0001	6.425e-05	0.0001	0.0033	6.507e-05	5.32e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.009	0.57480	D	0.007	0.69154	D	0.996	0.68779	D	0.804	0.58350	P	0.000002	0.62929	D	0.058075	0.915542	0.36528	D	1.1	0.28011	L	6.68	0.00503	T	-1.08	0.28084	N	0.629	0.64308	-0.0859	0.80420	T	0.003	0.00961	T	10	0.0107213855	0.00237	T	0.022771	0.45688	T	0.290	0.60924	0.231	0.15855	0.403040389579	0.39917	0.42261726607343436	0.42178	0.621881511677	0.56471	0.633500933647	0.57642	T	0.02436	0.18420	T	-0.287926	0.09845	T	-0.186096	0.55955	T	0.0830491445521488	0.10373	T	0.860314	0.55333	D	0.17975584	0.39062	0.18362398	0.41364	0.17975584	0.39062	0.18362398	0.41363	-5.483	0.41709	T	.	.	0.349	0.56494	A	.	.	3.822974	0.55215	23.6	0.99762070325050412	0.85172	0.92740	0.56430	D	AEFDBCI	0.517431	0.54356	D	0.463111815641377	0.64952	4.761637	0.462966171501338	0.65555	4.838451	0.999999999974479	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.662433	0.64102	0	.	.	5.28	5.28	0.74118	6.762000	0.74744	7.655000	0.63911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.083000	0.17415	0.0:0.0:1.0:0.0	16.446	0.83773	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	784.43	35	chr5	178120196	.	G	A	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.483;DP=396;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.26;SOR=0.941	GT:AD:DP:GQ:PL	0/1:41,37:78:99:796,0,957	9	0	1	0
chr5	179078829	179078829	G	A	exonic	ZNF354C	.	nonsynonymous SNV	ZNF354C:NM_014594:exon5:c.G397A:p.E133K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00231498449783	.	.	4.13e-05	0	0	0	0	7.498e-05	0	0	3.23e-05	5	154602	rs762681749	2.531e-05	2.599e-05	1.634e-05	3.438e-05	0.0001	1.868e-05	1.631e-05	7.124e-05	5.482e-05	0	0	0	2.521e-05	0	0	2.248e-05	0	0.0001	1.971e-05	1.97e-05	1.285e-05	2.69e-05	7.24e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0	0	0.855	0.02705	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.53	0.04852	T	1.24	0.01024	N	0.079	0.05414	-0.9354	0.43333	T	0.005	0.01833	T	9	0.045906514	0.03717	T	0.002315	0.04452	T	0.006	0.00375	.	.	0.0611884634855	0.05136	0.1739948721625231	0.17319	0.126884177599	0.14302	0.189793273807	0.00221	T	0.009367	0.08534	T	-0.511218	0.00494	T	-0.769452	0.02786	T	0.0258707684265326	0.01388	T	0.149885	0.01253	T	0.023638135	0.01120	0.042858846	0.05200	0.023638135	0.01120	0.042858846	0.05199	-3.21	0.12603	T	.	.	0.073	0.04806	B	.	.	-0.296983	0.02632	0.331	0.58858577528372591	0.06089	0.01373	0.04685	N	AEFBCI	0.017260	0.00440	N	-1.7755446845723	0.00607	0.02619398	-1.78419803419621	0.00811	0.0362045	0.00217861991519013	0.09210	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.87	-3.64	0.04225	-0.980000	0.03880	-0.131000	0.11618	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3497:0.1766:0.314:0.1597	0.979	0.01342	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1093.43	33	chr5	179078829	.	G	A	1093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.048;DP=423;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.869;SOR=0.749	GT:AD:DP:GQ:PL	0/1:63,48:111:99:1105,0,1517	9	0	1	0
chr5	180739291	180739291	G	T	exonic	OR2Y1	.	stopgain	OR2Y1:NM_001001657:exon1:c.C768A:p.Y256X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317217	0.14332	N	0.577500	0.999999	0.58761	D	.	.	.	.	.	.	.	.	.	0.011	0.00110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356852	0.87010	D	0.274817	0.86841	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.661781	0.95556	35	0.96576477481801815	0.30315	0.07952	0.13936	N	AEFBI	0.036266	0.04805	N	-0.297113056523833	0.29260	1.621034	-0.657789544580995	0.18020	0.9608221	1.25829319878787E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.41	-0.355	0.11961	1.337000	0.33467	-0.186000	0.11084	-0.358000	0.05522	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.6238:0.0:0.3762:0.0	7.931	0.29061	846	0.36215	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	.	.	.	.	.	.	.	.	0.05	1531.43	34	chr5	180739291	.	G	T	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.466;DP=492;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-2.011;SOR=0.684	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1543,0,1439	9	0	1	0
chr5	180792838	180792838	C	T	exonic	MGAT1	.	nonsynonymous SNV	MGAT1:NM_001114619:exon2:c.G134A:p.G45D,MGAT1:NM_001114620:exon2:c.G134A:p.G45D,MGAT1:NM_001364382:exon2:c.G134A:p.G45D,MGAT1:NM_001364383:exon2:c.G134A:p.G45D,MGAT1:NM_001364389:exon2:c.G134A:p.G45D,MGAT1:NM_001364390:exon2:c.G134A:p.G45D,MGAT1:NM_001364392:exon2:c.G134A:p.G45D,MGAT1:NM_002406:exon2:c.G134A:p.G45D,MGAT1:NM_001114617:exon3:c.G134A:p.G45D,MGAT1:NM_001114618:exon3:c.G134A:p.G45D,MGAT1:NM_001364377:exon3:c.G134A:p.G45D,MGAT1:NM_001364379:exon3:c.G134A:p.G45D,MGAT1:NM_001364380:exon3:c.G134A:p.G45D,MGAT1:NM_001364381:exon3:c.G134A:p.G45D,MGAT1:NM_001364384:exon3:c.G134A:p.G45D,MGAT1:NM_001364386:exon3:c.G134A:p.G45D,MGAT1:NM_001364387:exon3:c.G134A:p.G45D,MGAT1:NM_001364391:exon3:c.G134A:p.G45D,MGAT1:NM_001364393:exon3:c.G134A:p.G45D,MGAT1:NM_001364394:exon3:c.G134A:p.G45D,MGAT1:NM_001364395:exon3:c.G134A:p.G45D,MGAT1:NM_001364385:exon4:c.G134A:p.G45D,MGAT1:NM_001364388:exon4:c.G134A:p.G45D	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0061	0.0161741	0.0147	0.0383	0.0032	0	0	0.0003	0	0.0273	0.0040168	621	154602	rs61743256	0.0020	0.0020	0.0015	0.0025	0.0233	0.0019	0.0019	0.0224	0.0221	0.0220	0.0015	0	2.727e-05	0	0.0009	2.762e-05	0.0028	0.0233	0.0078	0.0078	0.0073	0.0082	0.0247	0.0074	0.0072	0.0234	0.0229	0.0247	0	0.0025	0	0.0002	0	0	2.94e-05	0.0038	0.0219	1.0	0.02847	T	0.692	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	0.304491	0.14540	N	0.694372	1	0.08975	N	-1.39	0.00611	N	-1.63	0.82440	D	0.51	0.45222	N	0.085	0.07673	-0.9568	0.39771	T	0.131	0.44129	T	10	0.005622059	0.00125	T	.	.	.	0.184	0.45763	.	.	0.525087790474	0.52154	0.30169071396837066	0.30082	1.01688254697	0.74978	0.55193477869	0.46131	T	0.283365	0.66499	T	-0.410521	0.01971	T	-0.343537	0.39944	T	0.00227345686121769	0.00024	T	0.174183	0.04565	T	0.03107151	0.02881	0.05031648	0.07872	0.03107151	0.02881	0.05031648	0.07871	-4.975	0.36568	T	.	.	0.055	0.00563	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.079935	0.04862	1.454	0.7395565728014778	0.10517	0.00899	0.03527	N	AEFBI	0.069498	0.13758	N	-1.20238463057488	0.04965	0.2252661	-1.18210210160975	0.06208	0.2981238	0.999925400028581	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.71	3.41	0.38145	0.251000	0.18025	1.865000	0.29348	-0.189000	0.09497	0.000000	0.06391	0.992000	0.31684	0.004000	0.06068	0.0:0.2398:0.1766:0.5835	4.021	0.09152	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	0.005133	0.015789	0.002747	0.005952	0.000000	0.000000	0.000000	0.011538	0.05	998.43	40	chr5	180792838	.	C	T	998.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.932;DP=406;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=0.756;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,26:53:99:0|1:180792834_G_A:1010,0,1055:180792834	9	0	1	0
chr6	4068899	4068899	T	A	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.A1324T:p.M442L	.	429	1013	73	5	2	85	0.0393551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00254959475138	.	0.000399361	0.0007	9.628e-05	0.0004	0	0	0.0010	0.0011	0.0004	0.0006339	98	154602	rs10485172	0.0007	0.0007	0.0007	0.0007	0.0006	0.0007	0.0007	0.0005	0.0004	0.0001	0.0006	0.0127	0	1.872e-05	0.0005	0.0005	0.0017	0.0006	0.0008	0.0008	0.0009	0.0007	0.0010	0.0006	0.0006	0.0007	0.0005	9.628e-05	0	0.0010	0.0118	0	0	0	0.0007	0.0009	0.0004	0.323	0.13436	T	0.785	0.04260	T	0.0	0.02946	B	0.0	0.01387	B	0.504377	0.11913	N	0.772232	1	0.08975	P	0.69	0.16971	N	2.76	0.11515	T	-0.4	0.13805	N	0.112	0.09914	-0.9387	0.42822	T	0.007	0.02399	T	9	0.005336553	0.00117	T	0.00255	0.05121	T	0.010	0.01040	0.178	0.08503	0.0138822411134	0.00435	0.023653734719694588	0.02317	0.028765286346	0.02960	0.251596212387	0.03938	T	0.002404	0.01797	T	-0.541281	0.00329	T	-0.653379	0.08720	T	0.000713665299098318	0.00006	T	0.379762	0.09155	T	0.079567924	0.18186	0.079647265	0.17948	0.079567924	0.18185	0.079647265	0.17948	-1.4	0.01571	T	.	.	0.138	0.30022	B	.;.	.;.	0.119828	0.05175	1.692	0.71633733798480204	0.09696	0.09787	0.15463	N	AEFCI	0.105604	0.21097	N	-1.05393287827125	0.07510	0.3491363	-1.05165221930719	0.08672	0.4275753	0.756801813423254	0.23447	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.94	1.03	0.19161	-0.042000	0.12016	-3.513000	0.02730	-1.676000	0.00793	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.1922:0.1795:0.6283	4.043	0.09243	634	0.64659	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	6744.2	33	chr6	4068899	.	T	A	6744.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.626;DP=778;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.3;SOR=0.655	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1544,0,1755	9	0	1	0
chr6	7229372	7229372	A	T	exonic	RREB1	.	nonsynonymous SNV	RREB1:NM_001003698:exon10:c.A1273T:p.T425S,RREB1:NM_001003699:exon10:c.A1273T:p.T425S,RREB1:NM_001003700:exon10:c.A1273T:p.T425S,RREB1:NM_001168344:exon10:c.A1273T:p.T425S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00361411363741	.	.	5.778e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs751432487	1.231e-05	1.231e-05	1.225e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	9.24e-06	4.56e-06	0	0	0	0	1.872e-05	0.0002	1.079e-05	1.656e-05	3.478e-05	6.576e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.415	0.16628	T	0.707	0.07292	T	0.077	0.24313	B	0.017	0.18140	B	0.016258	0.28027	N	0.241593	0.999988	0.18198	N	0.205	0.09354	N	3.07	0.09822	T	-0.8	0.24898	N	0.055	0.04913	-0.9313	0.43948	T	0.003	0.00897	T	10	0.055932343	0.06190	T	0.003614	0.08278	T	0.020	0.03691	0.285	0.24280	0.441910947893	0.43811	0.2914215984849438	0.29055	0.387038896173	0.39991	0.432025998831	0.29485	T	0.011221	0.10036	T	-0.442837	0.01244	T	-0.717516	0.04916	T	0.0537431053817272	0.06146	T	0.673733	0.28700	T	0.039908458	0.05599	0.02555298	0.00604	0.039908458	0.05598	0.02555298	0.00604	-3.374	0.14775	T	.	.	0.110	0.38640	B	.;.;.;.;.	.;.;.;.;.	0.053289	0.04664	1.314	0.7239091758238223	0.09957	0.35374	0.25287	N	AEFDGBCI	0.064155	0.12441	N	-0.980518584683815	0.09020	0.4252166	-0.878390576855441	0.12606	0.6494514	0.757297897769133	0.23454	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.47	1.71	0.23429	0.570000	0.23357	0.971000	0.23058	0.756000	0.94297	0.205000	0.24367	0.022000	0.20871	0.792000	0.37394	0.5537:0.0:0.2284:0.218	4.196	0.09904	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	.	.	.	.	.	.	.	.	0.05	4032.43	92	chr6	7229372	.	A	T	4032.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=888;ExcessHet=0;FS=0.438;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-3.487;SOR=0.732	GT:AD:DP:GQ:PL	0/1:124,156:280:99:4044,0,2880	9	0	1	0
chr6	7414350	7414350	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon16:c.G1244A:p.R415H,RIOK1:NM_031480:exon16:c.G1556A:p.R519H	.	430	1039	50	3	0	56	0.0262418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0076	0.0061901	0.0086	0.0016	0.0034	0.0001	0.0116	0.0094	0.0122	0.0165	0.0081241	1256	154602	rs56160149	0.0100	0.0100	0.0097	0.0102	0.0193	0.0098	0.0098	0.0185	0.0182	0.0015	0.0037	0.0044	5.043e-05	0.0103	0.0186	0.0102	0.0097	0.0193	0.0075	0.0075	0.0071	0.0078	0.0185	0.0071	0.0070	0.0154	0.0142	0.0020	0	0.0043	0.0049	0.0002	0.0127	0.0204	0.0106	0.0100	0.0185	0.266	0.16251	T	0.256	0.23298	T	0.001	0.07471	B	0.001	0.04355	B	0.593928	0.05607	N	1.421560	1	0.08975	N	0.34	0.10450	N	3.33	0.06138	T	-1.85	0.43334	N	0.101	0.08366	-0.9141	0.46338	T	0.003	0.00994	T	10	0.0030825436	0.00051	T	.	.	.	0.039	0.10176	.	.	0.139678290688	0.13603	0.028634318525073733	0.02813	0.216403637423	0.24162	0.187236070633	0.00180	T	0.018689	0.15024	T	-0.704744	0.00034	T	-0.770812	0.02741	T	0.010509738622555	0.00146	T	0.531747	0.17685	T	0.017672015	0.00293	0.028782748	0.01148	0.017672015	0.00293	0.028782748	0.01148	-4.241	0.27341	T	.	.	0.055	0.00375	B	.	.	-0.388696	0.02254	0.232	0.83854462349201608	0.14957	0.01415	0.04780	N	AEFBI	0.031459	0.03370	N	-1.21082851355945	0.04841	0.2193715	-1.21036202125596	0.05743	0.2744785	0.943901780032789	0.27591	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	-3.49	0.04424	-0.244000	0.08921	-1.164000	0.06144	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7541:0.0:0.2459:0.0	11.651	0.50548	668	0.61153	.	BMP6	Brain_Nucleus_accumbens_basal_ganglia	.	.	rs56160149	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.010101	0.004076	0.008772	0.000000	0.000000	0.051829	0.011364	0.05	1181.43	33	chr6	7414350	.	G	A	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.08;DP=397;ExcessHet=0;FS=0.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.272;SOR=0.855	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1193,0,909	9	0	1	0
chr6	10672585	10672585	T	C	exonic	C6orf52	.	nonsynonymous SNV	C6orf52:NM_001354357:exon5:c.A101G:p.N34S	.	440	1069	13	0	0	13	0.0060437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.00259585	0.0022	0	0	0	.	0.0053	0	0.0012	0.0009961	154	154602	rs146765215	0.0039	0.0035	0.0039	0.0040	0.0054	0.0038	0.0037	0.0052	0.0051	0.0009	0.0025	0.0037	0	0.0018	0.0040	0.0054	0.0038	0.0012	0.0032	0.0032	0.0033	0.0031	0.0052	0.0030	0.0029	0.0048	0.0046	0.0009	0	0.0044	0.0026	0	0.0009	0	0.0052	0.0028	0.0006	0.242	0.17584	T	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15843	T	0.01	0.06868	N	0.175	0.18784	-0.9108	0.46756	T	0.005	0.01651	T	5	0.005464494	0.00120	T	.	.	.	0.012	0.01476	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.746578	0.00019	T	-0.838645	0.01119	T	0.00180672650516581	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.	.	0.326616	0.07010	3.566	0.42035668309498431	0.03072	0.00372	0.01892	N	AEFBI	0.042383	0.06568	N	-0.886015964503683	0.11174	0.537857	-1.11179882492135	0.07474	0.3636771	9.68973826758359E-5	0.04910	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	0.235	0.235	0.14697	0.283000	0.18605	-0.283000	0.10254	0.339000	0.19733	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	.	.	.	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	0	0	.	.	.	.	.	.	.	.	0.05	1150.43	36	chr6	10672585	.	T	C	1150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.023;DP=395;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-1.147;SOR=0.816	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1162,0,907	9	0	1	0
chr6	22570117	22570117	-	GGCGGC	exonic	HDGFL1	.	nonframeshift insertion	HDGFL1:NM_138574:exon1:c.542_543insGGCGGC:p.A188_T189insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0034	0	0	0	0.0007	0	0.0006	0.000207	32	154602	rs536582109	0.0005	0.0005	0.0005	0.0005	0.0010	0.0005	0.0005	0.0007	0.0006	0.0010	0.0004	4.272e-05	0.0002	0.0010	0.0005	0.0005	0.0005	0.0003	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0008	0.0015	0.0014	0.0018	0	0.0005	0	0	0.0009	0.0035	0.0006	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	636.09	30	chr6	22570117	.	G	GGGCGGC	636.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.87;DP=268;ExcessHet=0.2348;FS=2.539;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.142;SOR=0.75	GT:AD:DP:GQ:PL	0/1:16,4:20:99:119,0,620	9	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	1640.75	71	chr6	24145554	.	C	G	1640.75	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,10:66:26:.:.:162,0,1517:.	7	0	3	0
chr6	24842956	24842956	T	G	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_001286445:exon13:c.A1763C:p.N588T,RIPOR2:NM_001286446:exon13:c.A1778C:p.N593T,RIPOR2:NM_001286447:exon13:c.A1676C:p.N559T,RIPOR2:NM_001346031:exon13:c.A1676C:p.N559T,RIPOR2:NM_001346032:exon13:c.A1676C:p.N559T,RIPOR2:NM_015864:exon13:c.A1676C:p.N559T,RIPOR2:NM_014722:exon14:c.A1826C:p.N609T	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00970253039019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.45e-06	1.368e-06	1.425e-06	1.477e-06	9.321e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.321e-07	1.764e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.50132	T	0.547	0.26226	T	0.089	0.32716	B	0.075	0.32014	B	0.472183	0.12264	N	0.804657	1	0.08975	N	.	.	.	1.5	0.31205	T	-1.35	0.33598	N	0.166	0.23758	-1.0002	0.29860	T	0.015	0.05849	T	10	0.053133816	0.05457	T	0.009703	0.25336	T	0.030	0.07022	0.299	0.26522	0.117191471859	0.11215	0.06789157172204004	0.06727	0.307147514716	0.33015	0.234472736716	0.02315	T	0.004725	0.12895	T	-0.269073	0.11861	T	-0.624281	0.10853	T	0.122550487018229	0.14677	T	0.916408	0.71859	D	0.044082332	0.06984	0.050278056	0.07858	0.044082332	0.06984	0.050278056	0.07857	-5.695	0.43649	T	.	.	0.071	0.23077	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.297159	0.16988	12.89	0.88421987137573022	0.17964	0.39539	0.26235	N	AEFBI	0.209983	0.33592	N	-0.869597642148016	0.11571	0.5591058	-0.850791545410368	0.13268	0.6873749	0.193595894749743	0.18030	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.65	-2.44	0.06126	0.642000	0.24426	0.004000	0.13336	0.665000	0.62972	0.224000	0.24579	0.000000	0.08366	0.991000	0.66497	0.0:0.4452:0.0:0.5548	11.180	0.47852	750	0.51762	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1800.43	33	chr6	24842956	.	T	G	1800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=464;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-2.051;SOR=0.801	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1812,0,1592	9	0	1	0
chr6	26234378	26234380	CTT	-	exonic	H1-3	.	nonframeshift deletion	H1-3:NM_005320:exon1:c.554_556del:p.K185_A186delinsT	.	430	1089	3	0	0	3	0.00137552	.	.	.	2822783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0084	0.00519169	0.0057	0.0094	0.0020	0	0.0138	0.0065	0.0044	0.0030	0.0031889	83	26028	rs199868143	0.0059	0.0059	0.0058	0.0060	0.0092	0.0058	0.0057	0.0084	0.0080	0.0092	0.0020	0.0128	7.557e-05	0.0149	0.0024	0.0058	0.0053	0.0029	0.0073	0.0073	0.0070	0.0075	0.0089	0.0069	0.0068	0.0081	0.0078	0.0089	0.0011	0.0044	0.0124	0.0015	0.0132	0.0068	0.0065	0.0043	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.000000	0.05	1456.39	33	chr6	26234377	.	GCTT	G	1456.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.831;DP=425;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=-0.288;SOR=0.546	GT:AD:DP:GQ:PL	0/1:43,39:82:99:1468,0,1647	9	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	438.25	75	chr6	27310582	.	G	A	438.25	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.12;DP=778;ExcessHet=2.8389;FS=220.933;InbreedingCoeff=-0.4801;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.511;SOR=9.641	GT:AD:DP:GQ:PL	0/1:50,24:74:94:94,0,1041	2	0	5	3
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	0.1	533.14	121	chr6	29942795	.	C	T	533.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.736;DP=1047;ExcessHet=0.2348;FS=1.473;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.39;MQRankSum=-4.226;QD=2.48;ReadPosRankSum=3.69;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,18:113:99:0|1:29942625_G_A:136,0,2871:29942625	8	0	2	0
chr6	29944565	29944565	G	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon5:c.G961A:p.V321M,HLA-A:NM_002116:exon5:c.G961A:p.V321M	.	3	1323	186	10	0	206	0.07223	.	.	.	1781407	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.070	.	.	0.0255591	0.0210	0.0424	0.0124	0.0028	0.0259	0.0233	0.0282	0.0127	0.0014359	222	154602	rs1059896	0.0002	0.0030	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0005	0.0005	5.967e-05	4.102e-05	0.0001	0.0002	9.919e-05	0.0001	0.0006	0.0002	0.0077	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0003	0	0.0003	0	0.0003	0.031	0.45039	D	0.03	0.54159	D	0.003	0.50474	B	0.017	0.53831	B	0.211648	0.16350	U	0.430133	1	0.08975	N	.	.	.	5.65	0.00800	T	-1.02	0.28084	N	0.138	0.13626	-1.0572	0.12465	T	0.003	0.01026	T	10	0.002677232	0.00041	T	.	.	.	0.070	0.20419	.	.	.	.	0.12531310856783362	0.12457	0.836547363532	0.67840	0.272338211536	0.06448	T	0.055992	0.30162	T	-0.581	0.00190	T	-0.55227	0.17107	T	0.0345302149775132	0.02728	T	0.848015	0.52922	T	0.024210302	0.01230	0.04359398	0.05459	0.024210302	0.01230	0.04359398	0.05459	-10.499	0.76842	D	.	.	0.123	0.27821	B	.;.;.	.;.;.	1.364435	0.17740	13.34	0.51719110658237677	0.04614	0.02367	0.06739	N	AEFGBHCI	0.256454	0.37537	N	-0.906902056130523	0.10679	0.5115168	-1.16424901818202	0.06515	0.3138758	0.999999991975517	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.33	-6.27	0.01850	-0.868000	0.04345	.	.	-1.242000	0.01313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2058:0.4163:0.2375:0.1404	2.239	0.03769	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006472	0.015152	0.001359	0.014563	0.000000	0.008621	0.006098	0.007576	0.05	2441.43	260	chr6	29944565	.	G	A	2441.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.736;DP=1702;ExcessHet=0;FS=2.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=-1.557;QD=17.19;ReadPosRankSum=-1.234;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,64:142:99:0|1:29944549_G_A:2453,0,3083:29944549	9	0	1	0
chr6	30345181	30345181	C	T	exonic	RPP21	.	nonsynonymous SNV	RPP21:NM_001199120:exon1:c.C10T:p.P4S,RPP21:NM_001199121:exon1:c.C10T:p.P4S,RPP21:NM_024839:exon1:c.C10T:p.P4S	.	423	1085	14	0	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0022	0.00259585	0.0050	0.0005	0.0036	0	0	0.0109	0.0051	0.0012	0.002335	361	154602	rs199499005	0.0040	0.0040	0.0040	0.0040	0.0047	0.0039	0.0039	0.0046	0.0046	0.0005	0.0013	0.0017	7.874e-05	0.0020	0.0032	0.0047	0.0034	0.0009	0.0033	0.0033	0.0033	0.0033	0.0059	0.0030	0.0029	0.0054	0.0052	0.0008	0.0011	0.0018	0.0037	0.0004	0.0014	0	0.0059	0.0043	0.0002	0.292	0.14894	T	0.718	0.12211	T	0.001	0.32258	B	0.001	0.29521	B	0.174256	0.17284	N	0.593369	1	0.08975	N	0.345	0.11182	N	1.63	0.42122	T	0.13	0.05810	N	0.143	0.14338	-1.0570	0.12517	T	0.039	0.16806	T	9	0.0025723875	0.00039	T	.	.	.	0.035	0.08770	.	.	0.44389696681	0.44012	0.14411592754265556	0.14334	0.581702386416	0.53958	.	.	.	0.003112	0.02515	T	-0.596185	0.00154	T	-0.627097	0.10635	T	0.00811904651643408	0.00097	T	.	.	.	0.06651009	0.14318	0.055206638	0.09640	0.06651009	0.14318	0.055206638	0.09639	-3.622	0.18176	T	.	.	0.095	0.14797	B	.;.;.;.	.;.;.;.	1.666143	0.21242	15.11	0.93292219621810935	0.23001	0.11513	0.16684	N	ALL	0.082519	0.16710	N	-0.632361216258299	0.17978	0.9296976	-0.602782413504987	0.19421	1.041912	0.999999999999982	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.73	3.96	0.45097	2.165000	0.42023	.	.	-0.172000	0.11096	0.172000	0.23960	0.402000	0.24716	0.770000	0.36519	0.0:0.8296:0.0:0.1704	8.938	0.34874	840	0.37365	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006111	0.000000	0.001377	0.016667	0.000000	0.009091	0.006289	0.015267	0.05	585.43	40	chr6	30345181	.	C	T	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.965;DP=332;ExcessHet=0;FS=1.9;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=-1.173;SOR=0.393	GT:AD:DP:GQ:PL	0/1:7,22:29:99:597,0,198	9	0	1	0
chr6	30913375	30913375	C	T	exonic	GTF2H4	.	nonsynonymous SNV	GTF2H4:NM_001517:exon13:c.C1204T:p.R402W	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.006855566819	.	0.000599042	0.0002	0	0	0	0	4.756e-05	0	0.0015	0.000207	32	154602	rs528361904	0.0001	0.0001	8.991e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	2.236e-05	0	0	1.909e-05	0.0009	4.946e-05	8.281e-05	0.0014	7.878e-05	7.874e-05	7.708e-05	8.056e-05	0.0010	4.493e-05	3.509e-05	0.0004	0.0003	9.623e-05	0	6.536e-05	0	0	0	0	2.94e-05	0	0.0010	0.024	0.47745	D	0.076	0.42614	T	0.016	0.17332	B	0.004	0.10090	B	0.000877	0.41335	U	0.164730	0.997692	0.44107	D	1.07	0.27075	L	0.89	0.45636	T	-3.25	0.65283	D	0.366	0.40765	-1.0702	0.09370	T	0.052	0.21921	T	10	0.028735071	0.01003	T	0.006856	0.18121	T	0.048	0.13305	0.366	0.37361	0.556850889111	0.55344	0.5042115403857756	0.50343	0.285748859338	0.30983	0.581791400909	0.50337	T	0.315665	0.68725	T	-0.403995	0.02180	T	-0.388465	0.34731	T	0.123413255602033	0.14760	T	0.952205	0.81731	D	0.54549605	0.69704	0.30760264	0.56782	0.54549605	0.69705	0.30760264	0.56781	-11.111	0.80263	D	.	.	0.178	0.40147	B	.;.	.;.	5.314047	0.89205	29.9	0.9934435895736009	0.60331	0.90441	0.51619	D	AEFDBCI	0.722597	0.67248	D	0.0594710040436483	0.44579	2.729391	0.242155204170873	0.52204	3.396845	0.999999974229877	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.73	4.86	0.62624	4.424000	0.59617	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.9155:0.0:0.0845	11.768	0.51215	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	.	.	.	.	.	.	.	.	0.05	1104.43	37	chr6	30913375	.	C	T	1104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=430;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.917;SOR=0.671	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1116,0,1274	9	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	0.25	11464.1	165	chr6	31270002	.	C	T	11464.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.258;DP=1405;ExcessHet=0.2065;FS=0.534;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=59.39;MQRankSum=0.59;QD=23.4;ReadPosRankSum=1.55;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,58:112:99:.:.:1344,0,1368:.	6	1	3	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	0.25	4050.13	68	chr6	31270250	.	C	A	4050.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.496;DP=744;ExcessHet=0.2065;FS=1.027;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=49.57;MQRankSum=-1.008;QD=17.69;ReadPosRankSum=-1.436;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,26:47:99:.:.:667,0,597:.	6	1	3	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	0.2	1482.57	199	chr6	31355338	.	T	C	1482.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.315;DP=1447;ExcessHet=1.5895;FS=10.624;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.63;MQRankSum=-10.92;QD=2.32;ReadPosRankSum=-0.008;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:118,24:142:99:.:.:160,0,3263:.	6	0	4	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.35	2550.97	236	chr6	31355425	.	T	C	2550.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.577;DP=1787;ExcessHet=7.0302;FS=23.246;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=57.89;MQRankSum=-12.93;QD=1.95;ReadPosRankSum=-0.449;SOR=1.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:135,22:157:99:.:.:261,0,4146:.	3	0	7	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4914.79	.	chr6	31356431	.	G	*	4914.79	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-1.359;DP=327;ExcessHet=0;FS=2.298;MLEAC=5;MLEAF=0.313;MQ=56.07;MQRankSum=4.58;QD=20.14;ReadPosRankSum=-0.521;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,35:35:99:1|1:31356424_C_G:1532,103,0:31356424	6	2	0	2
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,37:70:99:0|1:31356711_C_CGGAG:1415,0,1274:31356711	2	3	5	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,37:72:99:0|1:31356711_C_CGGAG:1409,0,1318:31356711	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	4775.72	32	chr6	31356748	.	CCT	*	4775.72	.	AC=12;AF=0.6;AN=20;BaseQRankSum=4.05;DP=659;ExcessHet=0;FS=8.576;InbreedingCoeff=-0.0526;MLEAC=12;MLEAF=0.6;MQ=54.11;MQRankSum=-8.251;QD=7.29;ReadPosRankSum=-1.343;SOR=1.842	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,101:101:99:1|1:31356739_C_A:4545,304,0:31356739	3	5	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,170:170:99:1|1:31356809_C_T:7583,512,0:31356809	1	5	4	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	13877.4	79	chr6	31412384	.	G	*	13877.4	.	AC=6;AF=0.3;AN=20;DP=615;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=27.7;SOR=1.633	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,39:54:99:1|0:31412383_TG_T:2264,648,501:31412383	5	1	4	0
chr6	31415054	31415054	C	T	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon7:c.C1067T:p.T356M	.	420	1061	41	0	0	41	0.0189552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0135783	0.0114	0.0015	0.0041	0.0422	0.0113	0.0093	0.01	0.0146	0.0105238	1627	154602	rs41546114	0.0088	0.0089	0.0085	0.0091	0.0481	0.0086	0.0086	0.0462	0.0455	0.0012	0.0046	0.0016	0.0481	0.0118	0.0090	0.0072	0.0069	0.0152	0.0080	0.0080	0.0073	0.0087	0.0348	0.0076	0.0075	0.0307	0.0291	0.0017	0.0044	0.0081	0.0020	0.0348	0.0133	0.0034	0.0089	0.0095	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013072	0.005051	0.001359	0.021277	0.100000	0.017241	0.024390	0.018939	0.05	1757.43	113	chr6	31415054	.	C	T	1757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.987;DP=1102;ExcessHet=0;FS=1.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.683;SOR=0.842	GT:AD:DP:GQ:PL	0/1:80,77:157:99:1769,0,1770	9	0	1	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	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,26:132:99:0|1:31625601_T_C:341,0,3455:31625601	0	0	10	0
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	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,26:132:99:0|1:31625601_T_C:341,0,3455:31625601	0	0	10	0
chr6	31632329	31632329	C	T	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon16:c.C3656T:p.S1219F,PRRC2A:NM_080686:exon16:c.C3656T:p.S1219F	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0122205784193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs41273264	2.738e-06	2.736e-06	1.362e-06	4.127e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.093	0.39799	T	0.0	0.02946	B	0.001	0.04355	B	0.005593	0.32671	N	0.220980	0.658885	0.30467	N	0.695	0.17993	N	4.67	0.01735	T	-0.6	0.17834	N	0.229	0.25745	-0.9069	0.47227	T	0.002	0.00526	T	10	0.071799815	0.10632	T	0.012221	0.30597	T	0.097	0.27909	.	.	0.043077524339	0.03247	0.20535380362719682	0.20452	0.242962122391	0.26798	0.465569347143	0.34073	T	0.012497	0.10973	T	-0.266661	0.12132	T	-0.620817	0.11121	T	0.175522627460669	0.18948	T	0.805419	0.45334	T	0.08533358	0.19789	0.08228728	0.18768	0.08533358	0.19789	0.08228728	0.18767	-6.157	0.47574	T	.	.	0.153	0.40048	B	.;.	.;.	2.013733	0.25586	16.82	0.71343930578211767	0.09597	0.60148	0.31113	D	AEFDBCI	0.152973	0.27775	N	-0.579574040355288	0.19566	1.025024	-0.46464704331389	0.23134	1.260078	0.999904825748263	0.45458	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.29	4.42	0.52775	0.004000	0.13007	.	.	0.592000	0.32167	0.000000	0.06391	1.000000	0.68203	0.010000	0.09038	0.0:0.7693:0.1505:0.0802	9.134	0.36025	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	.	.	.	.	.	.	.	.	0.05	1071.43	36	chr6	31632329	.	C	T	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.961;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.786;SOR=0.776	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1083,0,1026	9	0	1	0
chr6	31724618	31724618	C	T	exonic	MPIG6B	.	nonsynonymous SNV	MPIG6B:NM_025260:exon4:c.C532T:p.P178S,MPIG6B:NM_138272:exon4:c.C532T:p.P178S,MPIG6B:NM_138277:exon4:c.C532T:p.P178S	.	420	1089	13	0	0	13	0.00593336	.	.	.	699523	not_provided|MPIG6B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0011	0.0141773	0.0063	0.0003	0.0042	0.0185	0.0159	0.0024	0.0088	0.0170	0.0058085	898	154602	rs150417881	0.0030	0.0030	0.0027	0.0034	0.0159	0.0030	0.0029	0.0152	0.0149	0.0002	0.0036	0.0003	0.0096	0.0146	0.0036	0.0013	0.0039	0.0159	0.0034	0.0034	0.0027	0.0041	0.0226	0.0031	0.0031	0.0193	0.0180	0.0003	0	0.0031	0	0.0226	0.0132	0	0.0014	0.0019	0.0203	0.139	0.25979	T	0.0	0.92824	D	0.291	0.32334	B	0.214	0.37471	B	0.008721	0.30696	N	0.152218	0.552674	0.32146	D	.	.	.	0.87	0.46412	T	-4.27	0.76254	D	0.26	0.32481	-1.0354	0.18731	T	0.033	0.13986	T	8	0.0045332313	0.00094	T	.	.	.	0.012	0.01476	.	.	0.190952846119	0.18690	0.5494887875273428	0.54874	0.517718159117	0.49631	.	.	.	0.059697	0.35040	T	-0.513222	0.00481	T	-0.489035	0.23493	T	0.0161723580370317	0.00392	T	0.576842	0.21138	T	0.08314755	0.19188	0.15560047	0.36467	0.07525576	0.16941	0.15560047	0.36466	-4.047	0.27740	T	.	.	0.151	0.34689	B	.;.;.;.;.	.;.;.;.;.	1.552707	0.19898	14.49	0.90035662969182439	0.19323	0.06416	0.12420	N	AEFBCI	0.049036	0.08432	N	-0.498600615564328	0.22126	1.179288	-0.505614062870388	0.22000	1.192836	0.999998404440637	0.74766	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	5.12	3.26	0.36471	0.726000	0.25653	.	.	0.549000	0.26987	0.234000	0.24685	0.910000	0.28117	0.265000	0.23644	0.0:0.7596:0.0:0.2404	6.309	0.20364	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	1	0	0.001089	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1670.43	34	chr6	31724618	.	C	T	1670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.194;DP=470;ExcessHet=0;FS=0.613;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.333;SOR=0.752	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1682,0,1878	9	0	1	0
chr6	32120825	32120825	C	A	exonic	ATF6B	.	nonsynonymous SNV	ATF6B:NM_001136153:exon8:c.G769T:p.A257S,ATF6B:NM_004381:exon8:c.G778T:p.A260S	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0019	0.00239617	0.0033	0.0005	0.0027	0	0.0133	0.0033	0.0057	0.0030	0.0031306	484	154602	rs144595899	0.0032	0.0032	0.0033	0.0032	0.0039	0.0031	0.0031	0.0034	0.0033	0.0003	0.0039	0.0002	7.591e-05	0.0125	0.0012	0.0031	0.0027	0.0026	0.0029	0.0029	0.0028	0.0031	0.0045	0.0027	0.0026	0.0037	0.0033	0.0008	0	0.0045	0	0.0002	0.0119	0	0.0030	0.0033	0.0023	0.241	0.17643	T	0.329	0.20037	T	0.278	0.38961	B	0.084	0.39732	B	0.526695	0.05233	U	1.426730	0.985056	0.24745	N	2.2	0.62015	M	0.4	0.57261	T	-0.22	0.10480	N	0.373	0.41459	-1.0733	0.08702	T	0.046	0.19919	T	10	0.004032314	0.00078	T	.	.	.	0.035	0.08770	.	.	0.661569163496	0.65873	0.2764231792619899	0.27555	0.503281340955	0.48659	0.42653414607	0.28735	T	0.245434	0.61473	T	-0.461398	0.00964	T	-0.435687	0.29292	T	0.0156498248139547	0.00359	T	0.567543	0.20130	T	0.023695787	0.01131	0.04903318	0.07407	0.023695787	0.01131	0.04903318	0.07407	-3.623	0.18233	T	.	.	0.078	0.09917	B	.;.;.	.;.;.	1.412959	0.18288	13.65	0.97280107810859229	0.33181	0.49986	0.28559	N	AEFBI	0.129997	0.24838	N	-0.456935991771298	0.23506	1.262762	-0.386018008361575	0.25413	1.397408	0.251444722205072	0.18684	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	2.83	0.32150	0.824000	0.27034	.	.	-0.193000	0.09282	0.908000	0.31627	0.215000	0.23672	0.798000	0.37648	0.0:0.6993:0.0:0.3007	7.326	0.25729	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	0.001089	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1061.43	33	chr6	32120825	.	C	A	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=416;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.051;SOR=0.952	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1073,0,982	9	0	1	0
chr6	32149330	32149330	G	T	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C813A:p.F271L,PRRT1:NM_001363780:exon6:c.C570A:p.F190L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.148155155941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.0	0.92824	D	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	0.999619	0.47849	D	0.525	0.13617	N	-1.78	0.83737	D	-0.82	0.22508	N	0.645	0.67045	-0.4564	0.70188	T	0.305	0.67547	T	9	0.44030547	0.58058	T	0.148155	0.83010	D	0.517	0.79400	0.597	0.72739	0.59450981025	0.59129	0.9585500951537168	0.95840	.	.	0.864538431168	0.91779	D	0.402142	0.75924	T	0.172012	0.71307	D	0.00930685	0.70937	D	0.806830763816833	0.46824	D	0.842016	0.51794	T	0.19066913	0.40662	0.37802637	0.62889	0.19066913	0.40661	0.37802637	0.62889	-4.665	0.49751	T	.	.	1.000	0.99395	P	.;.	.;.	3.776194	0.54268	23.5	0.99423307003456707	0.63887	0.86421	0.45698	D	AEFDBCI	0.848464	0.76529	D	0.0224924021030136	0.42879	2.591973	0.148259771449305	0.47050	2.941146	0.999999968885374	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.12	0.47504	4.781000	0.62082	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0924:0.0:0.9076:0.0	10.970	0.46646	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	.	.	.	.	.	.	.	.	0.05556	216.05	116	chr6	32149330	.	G	T	216.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-5.53;DP=730;ExcessHet=0;FS=42.858;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.76;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,14:102:99:0|1:32149330_G_T:227,0,3577:32149330	8	0	1	1
chr6	32149333	32149333	G	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C810G:p.N270K,PRRT1:NM_001363780:exon6:c.C567G:p.N189K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.156792939211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	1.232e-05	1.368e-06	0	9.035e-07	0	0	.	.	0	0	0	0	0	0	9.035e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.12148	T	0.0	0.92824	D	0.997	0.70673	D	0.992	0.80445	D	.	.	.	.	0.990679	0.41211	D	0.225	0.09600	N	-1.92	0.84773	D	-0.56	0.17834	N	0.569	0.60156	-0.6100	0.64403	T	0.266	0.63759	T	9	0.29297018	0.46873	T	0.156793	0.83749	D	0.320	0.64215	0.442	0.49811	0.432604763906	0.42882	0.9495468269291918	0.94937	.	.	0.832174420357	0.86896	D	0.305599	0.67785	T	0.00976619	0.52993	T	-0.223748	0.52376	T	0.799855828285217	0.46343	D	0.846715	0.52677	T	0.090187326	0.21096	0.22930492	0.47998	0.090187326	0.21095	0.22930492	0.47997	-11.583	0.82760	D	.	.	1.000	0.99057	P	.;.	.;.	3.894575	0.56694	23.8	0.99712765615919852	0.81493	0.79475	0.39389	D	AEFDBCI	0.743137	0.68653	D	-0.297331295681822	0.29251	1.620488	-0.196946103386401	0.31649	1.793061	0.999727187316475	0.42220	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	0.743	0.17496	3.244000	0.51098	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4105:0.0:0.5895:0.0	8.761	0.33831	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	222.02	112	chr6	32149333	.	G	C	222.02	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.591;DP=1084;ExcessHet=0;FS=42.858;InbreedingCoeff=-0.2953;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.54;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,14:102:99:0|1:32149330_G_T:227,0,3577:32149330	2	0	1	7
chr6	32149334	32149334	T	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.A809G:p.N270S,PRRT1:NM_001363780:exon6:c.A566G:p.N189S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.279884387657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.0	0.92824	D	0.997	0.70673	D	0.983	0.75793	D	.	.	.	.	0.999498	0.47278	D	1.24	0.30952	L	-2.01	0.85468	D	-0.63	0.18459	N	0.425	0.47487	-0.2691	0.75835	T	0.440	0.77871	T	9	0.36402738	0.52958	T	0.279884	0.90192	D	0.354	0.67510	0.418	0.45873	0.645989072673	0.64305	0.9062892947861514	0.90601	.	.	0.748579621315	0.74237	T	0.344234	0.71277	T	-0.0297985	0.47447	T	-0.28058	0.46746	T	0.798602044582367	0.46259	D	0.923008	0.71997	D	0.20115644	0.42116	0.2331584	0.48498	0.20115644	0.42116	0.2331584	0.48497	-5.308	0.40022	T	.	.	0.970	0.89480	P	.;.	.;.	4.519567	0.70844	25.6	0.998061028404575	0.89085	0.87146	0.46598	D	AEFDBCI	0.917338	0.88479	D	0.19664931557694	0.51037	3.288361	0.299307556983304	0.55498	3.712904	0.999999999659074	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	4.245000	0.58529	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.651	0.56123	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	.	.	.	.	.	.	.	.	0.1	219.56	112	chr6	32149334	.	T	C	219.56	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.707;DP=1026;ExcessHet=0;FS=42.858;InbreedingCoeff=-0.2204;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.15;ReadPosRankSum=1.52;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,14:102:99:0|1:32149330_G_T:227,0,3577:32149330	4	0	1	5
chr6	32149335	32149335	T	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.A808G:p.N270D,PRRT1:NM_001363780:exon6:c.A565G:p.N189D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.400916255884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.0	0.92824	D	0.997	0.70673	D	0.989	0.78396	D	.	.	.	.	0.999493	0.47278	D	2.135	0.59519	M	-2.04	0.85703	D	-1.93	0.44852	N	0.619	0.63459	-0.0745	0.80676	T	0.541	0.83061	D	9	0.75981003	0.76259	D	0.400916	0.93395	D	0.503	0.78538	0.424	0.46857	0.803059469338	0.80121	0.9647599365794287	0.96462	.	.	0.820193946362	0.85057	D	0.648274	0.89295	D	0.0859516	0.62729	D	-0.114313	0.62265	T	0.961165368556976	0.66006	D	0.866613	0.56692	D	0.26133597	0.49192	0.30988634	0.57001	0.26133597	0.49192	0.30988634	0.57001	-12.378	0.86643	D	.	.	0.997	0.96404	P	.;.	.;.	5.523751	0.91805	32	0.99762601442043608	0.85172	0.87146	0.46598	D	AEFDBCI	0.921079	0.89399	D	0.513129237172383	0.67865	5.139079	0.524206799003174	0.69622	5.386896	0.999999999659074	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	6.993000	0.76009	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.651	0.56123	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	221.53	42	chr6	32149335	.	T	C	221.53	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.394;DP=798;ExcessHet=0;FS=42.929;InbreedingCoeff=-0.0603;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.22;ReadPosRankSum=1.52;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,14:100:99:0|1:32149330_G_T:233,0,3533:32149330	9	0	1	0
chr6	32149340	32149340	G	A	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C803T:p.A268V,PRRT1:NM_001363780:exon6:c.C560T:p.A187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.567365613894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.0	0.92824	D	0.997	0.90584	D	0.992	0.88582	D	.	.	.	.	0.999989	0.54805	D	2.54	0.74080	M	-3.35	0.94022	D	-3.87	0.72594	D	0.898	0.90476	0.923	0.96008	D	0.861	0.95383	D	9	0.95940363	0.95333	D	0.567366	0.96074	D	0.972	0.99695	0.823	0.93527	0.917865689854	0.91703	0.9923644020631984	0.99232	.	.	0.796729326248	0.81466	T	0.835489	0.96113	D	0.505881	0.94462	D	0.488887	0.94383	D	0.992065455416527	0.82458	D	0.919208	0.70896	D	0.13374771	0.31098	0.32801107	0.58694	0.13374771	0.31097	0.32801107	0.58694	-7.94	0.60660	D	.	.	0.996	0.95780	P	.;.	.;.	5.923481	0.94075	33	0.9993780266695157	0.99698	0.97115	0.72777	D	AEFDBI	0.943053	0.94840	D	0.830813058453111	0.87991	9.413316	0.794955670732566	0.89439	9.975905	0.999999999998126	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	8.760000	0.91349	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.785	0.78069	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	221.43	42	chr6	32149340	.	G	A	221.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.752;DP=800;ExcessHet=0;FS=43.513;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.36;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,14:100:99:0|1:32149330_G_T:233,0,3523:32149330	9	0	1	0
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.15	5477.45	33	chr6	32181363	.	C	T	5477.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.03;DP=704;ExcessHet=0.7463;FS=0.521;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.542;SOR=0.625	GT:AD:DP:GQ:PL	0/1:41,66:107:99:1872,0,975	7	0	3	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14871.3	264	chr6	32521981	.	T	*	14871.3	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.364;DP=1956;ExcessHet=5.1594;FS=8.865;InbreedingCoeff=-0.4141;MLEAC=4;MLEAF=0.2;MQ=52.74;MQRankSum=-4.675;QD=7.98;ReadPosRankSum=-3.763;SOR=1.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,37:423:99:0|1:32521930_A_C:331,0,16053:32521930	6	0	4	0
chr6	33789040	33789040	G	T	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001348710:exon1:c.C77A:p.T26N,LEMD2:NM_181336:exon1:c.C77A:p.T26N	Cataract 46, juvenile-onset, Autosomal recessive	403	1106	13	0	0	13	0.0058427	.	.	.	699557	LEMD2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.639280208701	0.0011	0.000998403	0.0018	0.0003	0.0025	0	0	0.0015	0.0013	0.0049	0.0015265	236	154602	rs201742534	0.0013	0.0013	0.0012	0.0015	0.0060	0.0013	0.0013	0.0044	0.0038	6.897e-05	0.0019	0.0006	3.027e-05	6.668e-05	0.0060	0.0012	0.0017	0.0041	0.0014	0.0014	0.0013	0.0015	0.0033	0.0012	0.0012	0.0021	0.0017	0.0002	0.0395	0.0017	0.0012	0	0	0.0034	0.0016	0.0043	0.0033	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.854	0.60866	P	0.035878	0.24591	N	0.289183	0.996411	0.43191	D	2.435	0.70606	M	0.59	0.53943	T	-1.29	0.32387	N	0.357	0.39861	-0.7408	0.58412	T	0.184	0.53255	T	10	0.007704705	0.00175	T	0.63928	0.96921	D	0.297	0.61730	.	.	0.88499437131	0.88386	0.6374398677451883	0.63677	2.36727214104	0.96895	0.967392325401	0.99966	D	0.138416	0.47188	T	-0.329247	0.06168	T	-0.245587	0.50253	T	0.162509006180523	0.18055	T	0.766923	0.39491	T	0.7202142	0.79173	0.6774251	0.81054	0.6841438	0.77194	0.7451461	0.84937	-7.026	0.54223	T	.	.	0.936	0.85639	P	.;.	.;.	3.929071	0.57419	23.9	0.98969454934959467	0.49501	0.07249	0.13273	N	ALL	0.268558	0.38503	N	0.439557539998273	0.63614	4.59848	0.364489302476495	0.59387	4.115924	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.99	3.12	0.34986	1.487000	0.35149	11.025000	0.84998	0.639000	0.52094	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0985:0.0:0.9015:0.0	9.958	0.40848	743	0.52768	LEM domain|LEM domain|LEM domain;LEM domain|LEM domain|LEM 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	0.005561	0.000000	0.009511	0.000000	0.050000	0.008621	0.000000	0.015152	0.05	604.43	37	chr6	33789040	.	G	T	604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.626;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.801;SOR=0.77	GT:AD:DP:GQ:PL	0/1:27,26:53:99:616,0,616	9	0	1	0
chr6	34981753	34981753	G	T	exonic	ANKS1A	.	nonsynonymous SNV	ANKS1A:NM_015245:exon4:c.G499T:p.V167L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00328172347838	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316595486	4.104e-06	4.104e-06	4.084e-06	4.125e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	1.972e-05	1.97e-05	0	4.036e-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	0.48	0.08237	T	0.245	0.24054	T	0.002	0.09854	B	0.003	0.08700	B	0.010367	0.29953	N	0.151326	0.917317	0.36576	D	-1.36	0.00644	N	0.19	0.60236	T	-0.42	0.14193	N	0.318	0.35832	-1.0520	0.13845	T	0.044	0.18824	T	10	0.18841895	0.34397	T	0.003282	0.07268	T	0.182	0.45420	0.517	0.61763	0.578139219814	0.57484	0.34356622640577683	0.34269	1.05119572782	0.76154	0.567463815212	0.48319	T	0.063798	0.32268	T	-0.0517961	0.44174	T	-0.312178	0.43425	T	0.495993673801422	0.32483	T	0.906609	0.67067	D	0.09476359	0.22288	0.09328362	0.22024	0.09476359	0.22288	0.09328362	0.22024	-7.505	0.57646	D	.	.	0.156	0.48355	B	.;.;.	.;.;.	3.343789	0.46092	22.2	0.96284657567727006	0.29292	0.94527	0.61454	D	AEFBI	0.516280	0.54288	D	-0.185652533491748	0.33731	1.917066	0.118017580266562	0.45470	2.809645	0.999999999757695	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.95	5.95	0.96415	4.254000	0.58588	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	20.402	0.99001	393	0.83123	.;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	.	.	.	.	.	.	.	.	0.05	1720.43	81	chr6	34981753	.	G	T	1720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.456;DP=703;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.678;SOR=0.636	GT:AD:DP:GQ:PL	0/1:108,73:181:99:1732,0,2784	9	0	1	0
chr6	34985102	34985102	A	G	exonic	ANKS1A	.	nonsynonymous SNV	ANKS1A:NM_015245:exon8:c.A1033G:p.T345A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00822560477835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.015	0.61642	D	0.332	0.33274	B	0.069	0.27757	B	0.004093	0.34125	N	0.128614	0.812321	0.81001	D	2.125	0.59049	M	0.65	0.52642	T	-0.96	0.25551	N	0.498	0.53093	-1.0428	0.16473	T	0.051	0.21844	T	10	0.18399507	0.33753	T	0.008226	0.21801	T	0.039	0.10176	0.348	0.34436	0.511911713033	0.50833	0.20745456116354005	0.20661	0.372969820583	0.38776	0.437234312296	0.30199	T	0.087404	0.37934	T	-0.0624155	0.42530	T	-0.327432	0.41755	T	0.66355288028717	0.39052	D	0.840116	0.51512	T	0.08546093	0.19825	0.07973252	0.17976	0.08546093	0.19824	0.07973252	0.17976	-3.547	0.17096	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	3.428662	0.47640	22.5	0.99052729556490493	0.51298	0.99034	0.90260	D	AEFDBI	0.465948	0.51380	N	0.0806203563661079	0.45559	2.810449	0.251486786721456	0.52733	3.446272	0.999999942375638	0.74766	0.732398	0.92422	0	0.624146	0.53433	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	5.978000	0.70187	7.118000	0.57587	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	14.480	0.67152	406	0.82375	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	745.43	33	chr6	34985102	.	A	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=391;ExcessHet=0;FS=1.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=0.659;SOR=0.951	GT:AD:DP:GQ:PL	0/1:52,32:84:99:757,0,1188	9	0	1	0
chr6	39316370	39316370	G	A	exonic	KCNK16	.	nonsynonymous SNV	KCNK16:NM_001135106:exon5:c.C734T:p.A245V,KCNK16:NM_032115:exon5:c.C734T:p.A245V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0114268524991	.	.	2.974e-05	0	0.0002	0.0001	0	0	0	0	2.59e-05	4	154602	rs763314461	1.438e-05	1.436e-05	1.226e-05	1.652e-05	8.984e-05	9.24e-06	7.84e-06	2.994e-05	1.81e-05	2.988e-05	8.984e-05	0	2.521e-05	0	0	1.17e-05	0	2.331e-05	3.285e-05	3.283e-05	5.139e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0	0.003	0.68238	D	0.003	0.76473	D	0.465	0.36447	P	0.081	0.28987	B	0.000006	0.00162	N	94.265600	0.933794	0.81001	D	2.4	0.69460	M	1.41	0.33412	T	-3.58	0.69118	D	0.638	0.65074	-1.0290	0.20778	T	0.049	0.20947	T	10	0.34998128	0.51879	T	0.011427	0.29047	T	0.330	0.65226	0.767	0.89452	0.334659703779	0.33074	.	.	.	.	0.554471731186	0.46488	T	0.291965	0.66471	T	-0.195786	0.21414	T	-0.293308	0.45427	T	0.692331671714783	0.40356	D	0.915408	0.69775	D	0.41999647	0.62091	0.3981042	0.64408	0.41999647	0.62092	0.3981042	0.64408	-4.652	0.36049	T	.	.	0.172	0.56971	B	.;.	.;.	4.980735	0.82498	27.8	0.99882601481592725	0.95813	0.96734	0.70654	D	AEFDBI	0.775846	0.70914	D	0.120133486812398	0.47402	2.966456	0.212899056418372	0.50562	3.246976	0.996587876589731	0.34847	0.497415	0.19182	0	0.563428	0.19063	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.11	4.22	0.49153	6.409000	0.73209	6.380000	0.55540	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0757:0.0:0.9243:0.0	13.988	0.63860	917	0.20147	Potassium channel 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	.	.	.	.	.	.	.	.	0.05	724.43	36	chr6	39316370	.	G	A	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.188;DP=469;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.918;SOR=0.913	GT:AD:DP:GQ:PL	0/1:36,31:67:99:736,0,876	9	0	1	0
chr6	46693026	46693026	C	T	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.C4898T:p.P1633L,TDRD6:NM_001168359:exon1:c.C4898T:p.P1633L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00528763075927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	4.085e-06	2.752e-06	4.498e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.20456	T	0.28	0.21678	T	0.374	0.34192	B	0.268	0.39801	B	0.009303	0.30420	N	0.351648	0.999265	0.46490	D	2.18	0.61292	M	3.02	0.08986	T	-2.9	0.60827	D	0.768	0.76573	-0.9838	0.34116	T	0.014	0.05705	T	10	0.57178104	0.65359	D	0.005288	0.13525	T	0.134	0.36365	0.539	0.65018	0.429552544315	0.42571	0.5250846278266391	0.52432	0.134854276219	0.15193	0.388861447573	0.23509	T	0.212163	0.57313	T	-0.0339463	0.46842	T	-0.286538	0.46132	T	0.925611853599548	0.58743	D	0.871813	0.57812	D	0.18299714	0.39546	0.123761386	0.29839	0.18299714	0.39546	0.123761386	0.29838	-4.569	0.34812	T	.	.	0.678	0.72062	P	.;.	.;.	3.576580	0.50405	22.9	0.99137022091837701	0.53437	0.88442	0.48372	D	AEFBI	0.213111	0.33872	N	0.18168714270906	0.50319	3.223118	0.335781564370369	0.57655	3.932107	0.00650728158412927	0.11235	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.87	5.87	0.94266	2.827000	0.47813	7.728000	0.67649	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.996000	0.76049	0.0:0.9297:0.0:0.0703	14.366	0.66368	553	0.71930	.;Tudor 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	.	.	.	.	.	.	.	.	0.05	1477.43	49	chr6	46693026	.	C	T	1477.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.037;DP=552;ExcessHet=0;FS=3.464;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.044;SOR=1.034	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1489,0,1325	9	0	1	0
chr6	52273751	52273751	C	T	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001366375:exon5:c.G697A:p.D233N,MCM3:NM_001270472:exon9:c.G1402A:p.D468N,MCM3:NM_001366369:exon10:c.G1540A:p.D514N,MCM3:NM_001366370:exon10:c.G1540A:p.D514N,MCM3:NM_001366371:exon10:c.G1489A:p.D497N,MCM3:NM_001366372:exon10:c.G1489A:p.D497N,MCM3:NM_001366374:exon10:c.G931A:p.D311N,MCM3:NM_002388:exon10:c.G1540A:p.D514N,MCM3:NM_001366373:exon11:c.G1021A:p.D341N	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0130031276609	0.0023	0.00199681	0.0045	0.0008	0.0011	0	0.0054	0.0070	0.0023	0.0006	0.0040944	633	154602	rs41273732	0.0040	0.0040	0.0041	0.0039	0.0046	0.0039	0.0039	0.0045	0.0044	0.0005	0.0017	0.0013	0	0.0065	0.0026	0.0046	0.0040	0.0006	0.0028	0.0028	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0007	0	0.0022	0.0014	0	0.0031	0	0.0047	0.0033	0.0008	0.003	0.68238	D	0.032	0.74150	D	0.979	0.59044	D	0.948	0.68536	D	0.000000	0.84330	D	0.046859	1	0.81001	D	1.86	0.49225	L	4.28	0.34050	T	-3.83	0.74051	D	0.36	0.44474	-0.9556	0.39988	T	0.163	0.49930	T	10	0.010209978	0.00228	T	0.013003	0.32054	T	0.277	0.59375	.	.	0.719660668505	0.71719	0.4683618608115827	0.46755	0.263756687781	0.28933	0.698439121246	0.66919	T	0.182108	0.53401	T	-0.472771	0.00817	T	-0.449822	0.27716	T	0.0334107398449504	0.02539	T	0.835616	0.51077	T	0.7180104	0.79051	0.6625154	0.80220	0.7180104	0.79052	0.6625154	0.80221	-6.355	0.49157	T	.	.	0.253	0.79060	B	.;.;.;.;.	.;.;.;.;.	5.184262	0.86933	29.1	0.99905551746587362	0.97651	0.97638	0.76075	D	AEFGBCI	0.914894	0.87890	D	0.624751732856405	0.74743	6.184916	0.663728929125817	0.79637	7.124625	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.31	5.31	0.75063	7.726000	0.83783	7.684000	0.65448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.174	0.93583	581	0.69614	MCM domain;.;.;MCM 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	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	716.43	35	chr6	52273751	.	C	T	716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.486;DP=367;ExcessHet=0;FS=1.098;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.533;SOR=0.483	GT:AD:DP:GQ:PL	0/1:31,29:60:99:728,0,845	9	0	1	0
chr6	55874486	55874486	A	T	exonic	BMP5	.	nonsynonymous SNV	BMP5:NM_001329754:exon1:c.T380A:p.I127K,BMP5:NM_001329756:exon1:c.T380A:p.I127K,BMP5:NM_021073:exon1:c.T380A:p.I127K	.	424	1049	48	1	0	50	0.0232775	.	.	.	3217204	BMP5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.213	.	0.0044	0.00658946	0.0060	0.0012	0.0044	0	0.0017	0.0064	0.0111	0.0130	0.0057114	883	154602	rs148766592	0.0061	0.0061	0.0058	0.0064	0.0134	0.0060	0.0060	0.0128	0.0125	0.0008	0.0033	0.0007	5.04e-05	0.0016	0.0111	0.0064	0.0052	0.0134	0.0043	0.0043	0.0045	0.0041	0.0125	0.0041	0.0039	0.0099	0.0090	0.0011	0	0.0022	0.0006	0.0002	0.0011	0.0102	0.0072	0.0047	0.0125	0.312	0.13925	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	0.016900	0.27861	N	0.409080	0.999942	0.19238	N	0	0.06538	N	-0.55	0.71068	T	-0.32	0.12283	N	0.306	0.34552	-1.0321	0.19777	T	0.078	0.31103	T	10	0.005883813	0.00132	T	.	.	.	0.213	0.50496	.	.	0.673091222706	0.67032	0.38443853275356543	0.38358	0.364414730211	0.38057	0.486332833767	0.36930	T	0.27718	0.64979	T	-0.372903	0.03450	T	-0.297394	0.44999	T	0.0186218125012243	0.00576	T	0.737926	0.35508	T	0.12036941	0.28325	0.18262362	0.41201	0.12036941	0.28325	0.18262362	0.41200	-2.995	0.10127	T	.	.	0.142	0.31203	B	.	.	2.070988	0.26338	17.08	0.86946015747244509	0.16882	0.80071	0.39809	D	AEFGBI	0.406686	0.47907	N	-0.282567121738962	0.29822	1.657207	-0.0970046483997416	0.35514	2.055537	0.999992548734019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.61	0.40494	5.786000	0.68654	8.107000	0.76578	0.756000	0.94297	1.000000	0.71638	0.982000	0.30508	0.830000	0.39126	0.8006:0.0:0.1994:0.0	8.575	0.32753	824	0.40336	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	0	0	1	0	0.011078	0.000000	0.005435	0.011696	0.050000	0.017241	0.009146	0.022727	0.1	3349.14	33	chr6	55874486	.	A	T	3349.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.83;DP=531;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.453;SOR=0.72	GT:AD:DP:GQ:PL	0/1:49,67:116:99:1700,0,1185	8	0	2	0
chr6	56517537	56517537	C	A	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon51:c.G10344T:p.E3448D,DST:NM_001374730:exon60:c.G10995T:p.E3665D,DST:NM_183380:exon61:c.G11322T:p.E3774D,DST:NM_001144770:exon62:c.G11442T:p.E3814D,DST:NM_001144769:exon64:c.G11856T:p.E3952D,DST:NM_001374729:exon65:c.G17253T:p.E5751D,DST:NM_001374722:exon70:c.G18213T:p.E6071D,DST:NM_001374734:exon70:c.G18240T:p.E6080D,DST:NM_001374736:exon70:c.G18213T:p.E6071D	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	3	1504	14	1	0	16	0.00529101	.	.	.	954607	Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|Hereditary_sensory_and_autonomic_neuropathy_type_6|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0046372061351	8.4e-05	0.000199681	0.0001	0	9.225e-05	0.0001	0	0.0001	0.0012	6.374e-05	9.06e-05	14	154602	rs373876039	7.666e-05	7.798e-05	5.856e-05	9.495e-05	0.0014	6.494e-05	6.074e-05	0.0007	0.0005	0	0	0	7.563e-05	0	0.0014	5.758e-05	0.0001	0.0003	7.88e-05	7.874e-05	6.424e-05	9.403e-05	0.0004	4.494e-05	3.51e-05	7.287e-05	3.028e-05	2.406e-05	0	0.0002	0	0	0	0	8.822e-05	0	0.0004	0.155	0.24183	T	.	.	.	0.812	0.45431	P	0.646	0.52296	P	0.000065	0.52346	D	0.000000	.	.	.	.	.	.	1.88	0.23884	T	-2.8	0.60029	D	0.613	0.62950	-1.0154	0.25207	T	0.084	0.32757	T	9	0.22731134	0.39608	T	0.004637	0.11503	T	0.211	0.50185	.	.	0.548160731508	0.54472	0.2501184377819017	0.24925	0.540124399563	0.51215	0.557902634144	0.46971	T	0.075684	0.41151	T	-0.289032	0.09733	T	-0.342433	0.40069	T	0.81636917591095	0.47504	D	0.992401	0.99457	D	.	.	.	.	.	.	.	.	-4.66	0.32917	T	.	.	0.536	0.66190	A	.;.;.;.;.;.	.;.;.;.;.;.	3.947899	0.57820	23.9	0.98428498675255693	0.41364	0.95020	0.63147	D	ALL	0.846840	0.76371	D	0.588699256152972	0.72470	5.810627	0.603798294399183	0.75214	6.271348	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	5.983000	0.70222	7.659000	0.64126	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9266:0.0:0.0733	13.881	0.63185	179	0.93046	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	971.43	34	chr6	56517537	.	C	A	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.577;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=1.78;SOR=0.788	GT:AD:DP:GQ:PL	0/1:22,42:64:99:983,0,480	9	0	1	0
chr6	61894756	61894756	C	A	exonic	KHDRBS2	.	nonsynonymous SNV	KHDRBS2:NM_001350622:exon6:c.G689T:p.R230L,KHDRBS2:NM_152688:exon6:c.G689T:p.R230L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0292873312488	.	.	5.834e-05	0	0.0002	0	0	0	0	0.0003	4.53e-05	7	154602	rs374827571	1.984e-05	1.984e-05	1.089e-05	2.889e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0003	3.286e-05	3.282e-05	2.572e-05	4.032e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0005	0.0008	0.005	0.63226	D	0.021	0.58089	D	0.995	0.67487	D	0.796	0.58006	P	0.000000	0.84330	D	0.056069	0.999501	0.47320	D	2.43	0.70455	M	0.76	0.49919	T	-4.18	0.75537	D	0.778	0.77507	-0.6900	0.60908	T	0.214	0.57507	T	10	0.74050677	0.74924	D	0.029287	0.51824	D	0.329	0.65126	0.364	0.37036	0.615400501031	0.61229	0.4294262301245069	0.42859	0.162984450629	0.18394	0.691052675247	0.65858	T	0.302569	0.67496	T	-0.136353	0.30471	T	-0.141489	0.59988	T	0.802042007446289	0.46492	D	0.849315	0.53201	T	0.45025307	0.64057	0.38105926	0.63124	0.45025307	0.64057	0.38105926	0.63123	-10.846	0.78806	D	.	.	0.392	0.59114	A	.	.	5.308302	0.89112	29.9	0.99847499769091685	0.92750	0.95222	0.63891	D	AEFI	0.801228	0.72699	D	0.758353053133707	0.83450	8.020195	0.75802479775237	0.86754	8.992099	0.0213367357338401	0.13340	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	6.220000	0.72182	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.789	0.96446	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	658.43	35	chr6	61894756	.	C	A	658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.097;DP=371;ExcessHet=0;FS=2.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.119;SOR=0.412	GT:AD:DP:GQ:PL	0/1:24,28:52:99:670,0,530	9	0	1	0
chr6	63280811	63280811	A	C	exonic	LGSN	.	nonsynonymous SNV	LGSN:NM_016571:exon4:c.T740G:p.L247W	.	.	.	.	.	.	.	.	.	.	.	3696229	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.828	0.354895505036	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166386174	2.531e-05	2.531e-05	2.859e-05	2.2e-05	0.0002	1.868e-05	1.631e-05	2.082e-05	1.782e-05	0	0	0	0	0	0.0002	2.878e-05	6.623e-05	0	1.971e-05	1.97e-05	0	4.034e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.085006	0.982063	0.81001	D	2.495	0.72670	M	-2.57	0.89692	D	-4.96	0.81985	D	0.584	0.60495	0.660	0.92675	D	0.747	0.91351	D	10	0.9582763	0.95208	D	0.354896	0.92364	D	0.828	0.94541	0.834	0.94231	0.801162331882	0.79930	0.9294647614789353	0.92924	0.099632476117	0.11245	0.560247421265	0.47303	T	0.43168	0.77971	T	0.153215	0.69569	D	0.112757	0.77756	D	0.937758386135101	0.60780	D	0.866613	0.56692	D	0.88310665	0.89925	0.9245633	0.96718	0.88310665	0.89926	0.9245633	0.96718	-14.864	0.95526	D	.	.	0.622	0.69771	P	.	.	4.740796	0.76452	26.5	0.95952517890577183	0.28275	0.99018	0.90030	D	AEFI	.	.	.	0.63307569146772	0.75277	6.277706	0.561092985566484	0.72171	5.768153	0.999903363067565	0.45458	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.17	5.17	0.70848	8.867000	0.91934	9.191000	0.79130	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	1.0:0.0:0.0:0.0	14.473	0.67104	788	0.46569	Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	846.43	44	chr6	63280811	.	A	C	846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.09;DP=430;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=0.195;SOR=0.595	GT:AD:DP:GQ:PL	0/1:58,38:96:99:858,0,1481	9	0	1	0
chr6	83253694	83253694	A	C	exonic	ME1	.	nonsynonymous SNV	ME1:NM_002395:exon7:c.T749G:p.V250G	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0087984933603	.	.	2.476e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs763964199	1.508e-05	1.573e-05	1.228e-05	1.791e-05	0.0002	9.87e-06	8.43e-06	9.814e-05	7.856e-05	0	0	0	0	0	0	5.406e-06	3.32e-05	0.0002	2.629e-05	2.627e-05	0	5.381e-05	0.0004	8.14e-06	5.14e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0.0010	0.0004	0.163	0.23450	T	0.381	0.15939	T	0.017	0.17573	B	0.074	0.28220	B	0.943988	0.08334	N	0.976106	0.65158	0.32968	D	0.305	0.10234	N	1.66	0.27486	T	-0.33	0.12472	N	0.27	0.30574	-1.0161	0.24980	T	0.015	0.06186	T	10	0.087950975	0.15099	T	0.008798	0.23221	T	0.018	0.03083	0.352	0.35084	0.264081493735	0.26024	0.43183245674731524	0.43100	0.056513214041	0.06243	0.228574216366	0.01864	T	0.06312	0.32093	T	-0.375635	0.03318	T	-0.540682	0.18229	T	0.0201394913706056	0.00715	T	0.748325	0.36895	T	0.24839602	0.47825	0.08157574	0.18549	0.24839602	0.47825	0.08157574	0.18548	-5.388	0.40804	T	.	.	0.107	0.20157	B	.	.	1.928082	0.24491	16.41	0.92662131468497233	0.22142	0.10277	0.15828	N	AEFGBI	0.103228	0.20687	N	-1.02016984999672	0.08186	0.38293	-0.948637347056986	0.10955	0.5551166	0.0123622035641783	0.12317	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	0.041	0.13528	1.075000	0.30328	3.162000	0.36573	-0.122000	0.13826	0.585000	0.27626	0.986000	0.30841	0.769000	0.36481	0.2391:0.4527:0.3082:0.0	4.958	0.13399	745	0.52414	Malic enzyme, N-terminal domain|Malic enzyme, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1101.43	33	chr6	83253694	.	A	C	1101.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.406;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.28;SOR=0.705	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1113,0,1373	9	0	1	0
chr6	85548358	85548358	T	C	exonic	SNX14	.	nonsynonymous SNV	SNX14:NM_001350536:exon7:c.A678G:p.I226M,SNX14:NM_001350537:exon7:c.A675G:p.I225M,SNX14:NM_001350542:exon7:c.A522G:p.I174M,SNX14:NM_001350543:exon7:c.A519G:p.I173M,SNX14:NM_020468:exon7:c.A678G:p.I226M,SNX14:NM_001350545:exon8:c.A366G:p.I122M,SNX14:NM_001350546:exon8:c.A366G:p.I122M,SNX14:NM_001297614:exon9:c.A810G:p.I270M,SNX14:NM_001304479:exon9:c.A654G:p.I218M,SNX14:NM_001350533:exon9:c.A807G:p.I269M,SNX14:NM_001350534:exon9:c.A807G:p.I269M,SNX14:NM_001350535:exon9:c.A807G:p.I269M,SNX14:NM_001350538:exon9:c.A666G:p.I222M,SNX14:NM_001350539:exon9:c.A651G:p.I217M,SNX14:NM_001350540:exon9:c.A810G:p.I270M,SNX14:NM_001350541:exon9:c.A810G:p.I270M,SNX14:NM_001350544:exon9:c.A510G:p.I170M,SNX14:NM_153816:exon9:c.A810G:p.I270M,SNX14:NM_001350532:exon10:c.A873G:p.I291M	Spinocerebellar ataxia, autosomal recessive 20, Autosomal recessive	23	202	1	0	0	1	0.00246914	.	.	.	2670709	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.0116230830359	.	.	5.023e-05	0	0	0	0	6.097e-05	0	0.0001	3.88e-05	6	154602	rs759158613	2.614e-05	2.736e-05	1.779e-05	3.457e-05	0.0004	1.943e-05	1.701e-05	0.0001	0.0001	0	2.297e-05	0	0	0	0.0004	1.353e-05	4.996e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.079	0.42487	T	0.137	0.34837	T	0.088	0.25022	B	0.042	0.24114	B	0.000001	0.84330	D	0.092717	0.990401	0.41152	D	1.7	0.43825	L	1.67	0.34648	T	-1.04	0.30346	N	0.469	0.52119	-1.0922	0.05175	T	0.033	0.14117	T	10	0.20804784	0.37122	T	0.011623	0.29427	T	0.101	0.28911	0.542	0.65446	0.333154297509	0.32921	0.4730522751497855	0.47224	0.278459395054	0.30327	0.481923669577	0.36322	T	0.047641	0.27782	T	-0.26696	0.12099	T	-0.356817	0.38420	T	0.0639217303205473	0.07771	T	0.79772	0.44184	T	0.19108018	0.40721	0.15341425	0.36052	0.19108018	0.40721	0.15341425	0.36051	-5.588	0.42683	T	0.2598604365378795	0.35098	0.106	0.19518	B	.;.;.;.;.;.	.;.;.;.;.;.	2.213049	0.28233	17.73	0.79045975649513556	0.12566	0.94001	0.59815	D	AEBI	0.405457	0.47834	N	-0.373390369652468	0.26420	1.441806	-0.263888456636647	0.29297	1.640256	1.02060266587508E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.69	3.52	0.39415	0.764000	0.26197	1.929000	0.29759	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1339:0.0758:0.0:0.7903	6.838	0.23128	735	0.53711	.;Phox-associated domain|Phox-associated domain|Phox-associated domain;Phox-associated domain|Phox-associated domain|Phox-associated domain;.;.;Phox-associated domain|Phox-associated domain|Phox-associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	71.43	28	chr6	85548358	.	T	C	71.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.438;DP=180;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.76;ReadPosRankSum=-0.881;SOR=1.022	GT:AD:DP:GQ:PL	0/1:14,5:19:83:83,0,319	9	0	1	0
chr6	87260932	87260932	G	A	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.G7303A:p.V2435I,ZNF292:NM_001351444:exon9:c.G6883A:p.V2295I	.	427	1012	79	4	0	87	0.0412127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00499201	0.0100	0.0022	0.0049	0.0001	0.0017	0.0104	0.0121	0.0245	0.0084087	1300	154602	rs61744959	0.0096	0.0096	0.0091	0.0100	0.0230	0.0094	0.0094	0.0222	0.0218	0.0019	0.0041	0.0017	0	0.0015	0.0193	0.0099	0.0093	0.0230	0.0063	0.0063	0.0065	0.0061	0.0201	0.0060	0.0058	0.0169	0.0157	0.0016	0	0.0041	0.0012	0	0.0009	0.0068	0.0103	0.0057	0.0201	0.406	0.10278	T	0.396	0.15206	T	0.006	0.13644	B	0.009	0.14300	B	0.461370	0.12387	N	0.768728	0.999999	0.08975	N	1.735	0.44892	L	3.34	0.06063	T	-0.22	0.10480	N	0.053	0.02462	-0.9008	0.47910	T	0.004	0.01400	T	10	0.0027675629	0.00043	T	.	.	.	0.033	0.08068	.	.	0.216943180021	0.21308	0.05458345058221593	0.05400	.	.	0.256128549576	0.04441	T	0.031842	0.22223	T	-0.710375	0.00032	T	-0.775596	0.02589	T	0.000202353479089497	0.00001	T	0.667533	0.27667	T	0.03097521	0.02854	0.028164731	0.01028	0.03119373	0.02914	0.028164731	0.01028	-3.79	0.20655	T	0.4322768024131565	0.51920	0.072	0.04198	B	.;.	.;.	0.563888	0.09324	6.105	0.75564123995781296	0.11124	0.51125	0.28823	D	AEFBCI	.	.	.	-0.591901078762334	0.19188	1.002366	-0.479853640002633	0.22708	1.234817	0.969723715095948	0.29151	0.651	0.46895	0	0.643519	0.57511	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.52	2.71	0.31092	0.799000	0.26688	0.955000	0.22950	0.618000	0.50648	0.128000	0.23311	0.915000	0.28207	0.944000	0.48669	0.0713:0.1142:0.6677:0.1467	6.622	0.22002	824	0.40336	.;.	.	.	.	.	rs61744959	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	0.018630	0.000000	0.017663	0.011696	0.000000	0.000000	0.030488	0.030303	0.1	2317.14	39	chr6	87260932	.	G	A	2317.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.892;DP=494;ExcessHet=0.2348;FS=4.283;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.293;SOR=1.035	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1437,0,1172	8	0	2	0
chr6	89706175	89706175	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon53:c.A8032G:p.T2678A	.	.	.	.	.	.	.	.	.	.	.	3210336	MDN1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.067	.	0.0048	0.00139776	0.0036	0.0006	0.0007	0	0.0144	0.0042	0.0022	0.0023	0.0034411	532	154602	rs41273331	0.0054	0.0054	0.0056	0.0052	0.0060	0.0053	0.0052	0.0059	0.0058	0.0010	0.0010	0.0020	0	0.0105	0.0003	0.0060	0.0047	0.0020	0.0037	0.0037	0.0034	0.0040	0.0047	0.0034	0.0033	0.0043	0.0041	0.0010	0	0.0010	0.0012	0	0.0160	0	0.0047	0.0019	0.0012	0.248	0.17239	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	0.080690	0.20910	N	0.557669	0.999984	0.18198	N	0	0.06538	N	4.14	0.02839	T	-0.42	0.14193	N	0.191	0.20925	-0.8888	0.49038	T	0.002	0.00646	T	10	0.006221324	0.00140	T	.	.	.	0.067	0.19503	.	.	0.043077524339	0.03247	0.11426542010895477	0.11354	0.147516946697	0.16644	0.292011141777	0.09214	T	0.004837	0.04259	T	-0.630366	0.00095	T	-0.673828	0.07365	T	0.0133686379967126	0.00241	T	0.686231	0.29475	T	0.03280992	0.03377	0.043295115	0.05352	0.03280992	0.03377	0.043295115	0.05352	-3.385	0.14855	T	.	.	0.065	0.01834	B	.;.	.;.	2.665753	0.34737	19.71	0.82262593687027052	0.14102	0.61692	0.31559	D	AEFBI	0.067759	0.13336	N	-0.404678982002271	0.25305	1.372672	-0.184739456260655	0.32096	1.822723	0.462934812816264	0.20639	0.732398	0.92422	0	0.615513	0.52658	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	2.211000	0.42465	6.094000	0.53477	0.609000	0.47794	0.704000	0.28664	1.000000	0.68203	0.836000	0.39433	0.1914:0.0:0.0:0.8086	9.800	0.39925	802	0.44336	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	746.43	40	chr6	89706175	.	T	C	746.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.839;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.288;SOR=0.618	GT:AD:DP:GQ:PL	0/1:34,37:71:99:758,0,745	9	0	1	0
chr6	111580262	111580262	G	T	exonic	TRAF3IP2	.	nonsynonymous SNV	TRAF3IP2:NM_001164281:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147686:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147200:exon4:c.C984A:p.S328R	.	424	1080	16	2	0	20	0.00917431	.	.	.	521681	Candidiasis,_familial,_8|TRAF3IP2-related_disorder	MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.0105387821715	0.0011	0.000599042	0.0018	0	0.0006	0	0.0002	0.0022	0.0033	0.0038	0.0016171	250	154602	rs146226365	0.0013	0.0013	0.0012	0.0014	0.0087	0.0013	0.0012	0.0068	0.0061	5.982e-05	0.0004	0.0169	0	0.0002	0.0087	0.0008	0.0023	0.0041	0.0012	0.0012	0.0012	0.0012	0.0052	0.0010	0.0010	0.0036	0.0031	9.62e-05	0	0.0005	0.0161	0	0	0	0.0011	0.0043	0.0052	0.01	0.56456	D	0.044	0.50226	D	0.937	0.52445	P	0.529	0.48508	P	0.000322	0.45700	D	0.156174	1	0.81001	D	2.395	0.69210	M	1.2	0.37746	T	-1.28	0.32185	N	0.266	0.30687	-1.1119	0.02912	T	0.058	0.24317	T	10	0.007829368	0.00178	T	0.010539	0.27195	T	0.112	0.31546	0.369	0.37850	0.562580035486	0.55921	0.383433040672227	0.38258	0.248281453922	0.27391	0.36838644743	0.20599	T	0.144915	0.48178	T	-0.374221	0.03386	T	-0.312109	0.43432	T	0.0511625810549959	0.05703	T	0.618838	0.23746	T	0.06632413	0.14260	0.0971476	0.23110	0.09406443	0.22106	0.09396534	0.22219	-3.425	0.16487	T	0.2385391721129201	0.32307	0.247	0.53747	B	.;.;.;.	.;.;.;.	2.820424	0.37150	20.4	0.99794009709139653	0.87928	0.76255	0.37385	D	AEFDBI	0.194552	0.32162	N	0.138979454985184	0.48291	3.043194	0.135237814780427	0.46365	2.883631	0.999994259232576	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.99	1.77	0.23848	0.252000	0.18046	0.085000	0.14440	0.676000	0.76740	0.994000	0.38300	0.071000	0.22219	0.991000	0.66497	0.3261:0.0:0.6739:0.0	9.803	0.39945	386	0.83455	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.003788	0.1	2910.14	92	chr6	111580262	.	G	T	2910.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.94;DP=904;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.47;SOR=0.662	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1300,0,1741	8	0	2	0
chr6	125076745	125076745	G	A	exonic	RNF217	.	nonsynonymous SNV	RNF217:NM_001286398:exon4:c.G1370A:p.R457H,RNF217:NM_152553:exon6:c.G494A:p.R165H	.	422	1072	27	1	0	29	0.0133456	.	.	.	1329846	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	no_assertion_criteria_provided	risk_factor	.	.	.	.	.	.	.	.	0.287	.	0.0058	0.00459265	0.0044	0.0091	0.0044	0.0001	0.0009	0.0046	0.0077	0.0044	0.0043855	678	154602	rs73580047	0.0032	0.0032	0.0031	0.0033	0.0231	0.0031	0.0031	0.0199	0.0187	0.0091	0.0051	0.0145	5.04e-05	0.0007	0.0231	0.0026	0.0054	0.0047	0.0054	0.0054	0.0054	0.0055	0.0089	0.0051	0.0050	0.0081	0.0078	0.0089	0	0.0087	0.0150	0	0.0008	0.0272	0.0031	0.0095	0.0040	0.016	0.51853	D	0.09	0.52727	T	.	.	.	.	.	.	0.000000	0.84330	D	0.050543	1	0.81001	D	1.67	0.42885	L	-0.21	0.66294	T	-2.62	0.74269	D	0.482	0.78832	-0.8695	0.50567	T	0.119	0.41799	T	10	0.008839369	0.00200	T	.	.	.	0.287	0.60574	.	.	0.778352746376	0.77631	0.6200055728622266	0.61933	0.585133817293	0.54168	0.785527586937	0.79764	T	0.254848	0.62556	T	-0.162658	0.26351	T	0.000115484	0.70344	D	0.0392234580538141	0.03550	T	0.922308	0.73352	D	0.25628865	0.48667	0.186939	0.41896	0.25628865	0.48667	0.186939	0.41895	-11.046	0.79910	D	.	.	0.471	0.70186	A	.;.;.;.	.;.;.;.	5.533034	0.91890	32	0.99935858215791484	0.99621	0.95270	0.64072	D	AEFDBCIJ	0.897967	0.84073	D	0.339720528204253	0.58200	3.99084	0.470407099483941	0.66036	4.900287	0.999999999976962	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.78367	0.99111	0	0.714379	0.83352	0	.	.	5.56	4.68	0.58319	7.689000	0.83445	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0719:0.0:0.9281:0.0	14.198	0.65225	951	0.11083	IBR domain;IBR 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	0.021652	0.045455	0.021739	0.017544	0.000000	0.034483	0.012195	0.018939	0.1	4054.12	38	chr6	125076745	.	G	A	4054.12	.	AC=2;AF=0.1;AN=20;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.81;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4077,408,0	9	1	0	0
chr6	127515894	127515894	C	T	exonic	SOGA3	.	nonsynonymous SNV	SOGA3:NM_001012279:exon2:c.G721A:p.G241S	.	342	1136	43	1	0	45	0.0194217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0037	0.00519169	0.0066	0.0016	0.0042	0.0001	0.0005	0.0085	0.0119	0.0093	0.0063389	980	154602	rs146616372	0.0061	0.0061	0.0058	0.0065	0.0154	0.0060	0.0060	0.0128	0.0119	0.0013	0.0045	0.0362	0	0.0007	0.0154	0.0057	0.0085	0.0097	0.0053	0.0053	0.0053	0.0053	0.0100	0.0050	0.0049	0.0087	0.0082	0.0010	0.0044	0.0100	0.0352	0.0004	0.0004	0.0068	0.0060	0.0099	0.0097	0.342	0.12632	T	0.114	0.37037	T	0.001	0.07471	B	0.001	0.04355	B	0.183284	0.17044	N	0.508971	0.980846	0.25083	N	0.55	0.14455	N	0.77	0.49642	T	0.28	0.04233	N	0.094	0.07673	-0.9613	0.38936	T	0.015	0.05897	T	10	0.0022513568	0.00033	T	.	.	.	0.037	0.09474	.	.	0.0138822411134	0.00435	0.24595468288571365	0.24509	.	.	0.500894546509	0.38953	T	0.012343	0.10867	T	-0.547645	0.00301	T	-0.551754	0.17157	T	0.00708383638216742	0.00081	T	0.539746	0.18256	T	0.02686775	0.01801	0.052936826	0.08818	0.02686775	0.01800	0.052936826	0.08818	-4.534	0.31330	T	.	.	0.080	0.07650	B	.;.	.;.	2.691677	0.35134	19.82	0.98028413124919289	0.37689	0.04124	0.09601	N	AEFDGBCIJ	0.231503	0.35472	N	-1.10420077782074	0.06568	0.3027245	-1.05318605825866	0.08641	0.4258427	0.999999983140655	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.44	0.487	0.16050	0.986000	0.29190	1.101000	0.24069	0.519000	0.23678	0.949000	0.33028	1.000000	0.68203	0.921000	0.45669	0.0:0.6169:0.1745:0.2086	4.930	0.13264	641	0.64016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.005435	0.008772	0.050000	0.017241	0.015244	0.015152	0.1	3068.12	33	chr6	127515894	.	C	T	3068.12	.	AC=2;AF=0.1;AN=20;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.22;SOR=0.876	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3091,314,0	9	1	0	0
chr6	138432084	138432084	G	C	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.C2273G:p.P758R,NHSL1:NM_001144060:exon6:c.C2261G:p.P754R	.	429	1086	7	0	0	7	0.00321248	.	.	.	2820732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.201	0.0145111183151	.	0.00179712	0.0032	0	0	0	0	0.0005	0	0.0075	0.0005304	82	154602	rs138276881	0.0007	0.0007	0.0005	0.0010	0.0081	0.0007	0.0007	0.0075	0.0073	6.33e-05	0.0003	0	2.798e-05	0	0.0033	0.0003	0.0008	0.0081	0.0005	0.0005	0.0004	0.0006	0.0093	0.0004	0.0004	0.0072	0.0064	2.405e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0005	0.0093	0.013	0.54683	D	0.079	0.42086	T	0.993	0.65571	D	0.878	0.62312	P	0.000077	0.52346	D	0.132386	0.999646	0.48019	D	2.91	0.84121	M	1.16	0.38073	T	-4.78	0.80510	D	0.37	0.41162	-0.9291	0.44270	T	0.129	0.43726	T	10	0.007284969	0.00166	T	0.014511	0.34674	T	0.201	0.48592	.	.	0.231873229951	0.22792	0.17891690152936426	0.17810	.	.	0.393936961889	0.24222	T	0.094766	0.39483	T	-0.345096	0.05043	T	-0.263777	0.48445	T	0.183028155804875	0.19424	T	0.865513	0.57479	D	0.21879137	0.44395	0.2890722	0.54926	0.21879137	0.44395	0.2890722	0.54925	-5.916	0.45571	T	.	.	0.234	0.50572	B	.;.	.;.	4.397426	0.67920	25.2	0.99843194641176625	0.92316	0.99091	0.91093	D	AEFDBI	0.902680	0.85086	D	0.686859147772298	0.78771	6.939236	0.649816011252659	0.78596	6.908374	0.999999999951225	0.74766	0.744818	0.98587	0	0.54472	0.11627	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	7.647000	0.82624	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0765:0.0:0.9235:0.0	13.174	0.59037	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003185	0.000000	0.000000	0.012397	0.000000	0.029412	0.000000	0.044444	0.1	2668.12	34	chr6	138432084	.	G	C	2668.12	.	AC=2;AF=0.1;AN=20;DP=553;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29;SOR=0.782	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2691,276,0	9	1	0	0
chr6	142772933	142772933	C	A	exonic	HIVEP2	.	nonsynonymous SNV	HIVEP2:NM_006734:exon5:c.G1806T:p.Q602H	Mental retardation, autosomal dominant 43, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00391851979454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.398	0.15109	T	0.017	0.17573	B	0.005	0.11217	B	0.000497	0.43931	D	0.238525	0.969157	0.38708	D	1.67	0.42885	L	2.78	0.11298	T	-0.65	0.18877	N	0.291	0.37093	-0.9921	0.32063	T	0.008	0.02679	T	10	0.088941425	0.15362	T	0.003919	0.09242	T	0.190	0.46781	0.157	0.06070	0.311241185304	0.30733	0.444519559316982	0.44369	0.219569769292	0.24499	0.510526120663	0.40296	T	0.095272	0.39587	T	-0.171882	0.24951	T	-0.484673	0.23951	T	0.118793914684097	0.14312	T	0.822218	0.48193	T	0.048381638	0.08423	0.04431012	0.05711	0.048381638	0.08422	0.04431012	0.05711	-3.901	0.22318	T	0.14854143824153845	0.17302	0.162	0.35849	B	.;.;.	.;.;.	0.876305	0.12494	9.025	0.97547821338931995	0.34550	0.56237	0.30066	D	AEFBI	0.070777	0.14062	N	-0.5718932350968	0.19803	1.039263	-0.481481603186908	0.22664	1.232128	0.858431550932286	0.25179	0.651	0.46895	0	0.577304	0.33150	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.48	2.67	0.30756	-0.394000	0.07357	0.239000	0.16284	0.599000	0.40250	0.180000	0.24064	0.978000	0.30204	0.094000	0.17991	0.1203:0.5459:0.0:0.3339	5.846	0.17917	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	55.43	39	chr6	142772933	.	C	A	55.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.746;DP=536;ExcessHet=0;FS=85.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=1.31;SOR=6.517	GT:AD:DP:GQ:PL	0/1:155,25:180:67:67,0,3780	9	0	1	0
chr6	150840094	150840094	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon14:c.C3239T:p.T1080I,PLEKHG1:NM_001329802:exon15:c.C3317T:p.T1106I,PLEKHG1:NM_001329798:exon16:c.C3533T:p.T1178I,PLEKHG1:NM_001329799:exon16:c.C3476T:p.T1159I,PLEKHG1:NM_001329800:exon16:c.C3356T:p.T1119I,PLEKHG1:NM_001329801:exon16:c.C3356T:p.T1119I,PLEKHG1:NM_001029884:exon17:c.C3356T:p.T1119I	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.0111821	0.0049	9.662e-05	0	0	0	1.501e-05	0.0033	0.0356	0.0043337	670	154602	rs372279367	0.0022	0.0022	0.0013	0.0031	0.0343	0.0021	0.0021	0.0333	0.0328	0.0001	2.236e-05	0	0.0001	0	0.0026	3.058e-05	0.0025	0.0343	0.0013	0.0013	0.0007	0.0020	0.0404	0.0012	0.0011	0.0357	0.0339	4.809e-05	0	0	0	0.0002	0	0	1.47e-05	0.0014	0.0404	0.142	0.25457	T	0.305	0.20037	T	0.0	0.02946	B	0.001	0.04355	B	0.221707	0.16122	N	0.667620	1	0.08975	N	0.745	0.18958	N	0.2	0.60111	T	-2.32	0.51478	N	0.053	0.02462	-1.0397	0.17404	T	0.043	0.18535	T	10	0.0021669865	0.00031	T	.	.	.	0.071	0.20720	0.204	0.11936	0.644489828286	0.64155	0.15766450471524351	0.15687	.	.	0.284832179546	0.08176	T	0.008264	0.07601	T	-0.662554	0.00061	T	-0.698029	0.05933	T	0.0112750887601846	0.00166	T	0.628437	0.24364	T	0.054816864	0.10569	0.042915873	0.05221	0.054816864	0.10569	0.042915873	0.05220	-4.171	0.26330	T	.	.	0.069	0.03661	B	.;.	.;.	0.299665	0.06756	3.269	0.93045431646558463	0.22651	0.06046	0.12015	N	AEFDBI	0.073970	0.14813	N	-0.966185444812593	0.09332	0.4412698	-1.00183923985445	0.09745	0.4866181	0.749541724745575	0.23337	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.81	-0.456	0.11581	-1.058000	0.03593	-1.355000	0.05637	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1058:0.3737:0.1897:0.3307	2.003	0.03260	951	0.11083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.007576	0.1	3192.12	34	chr6	150840094	.	C	T	3192.12	.	AC=2;AF=0.1;AN=20;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.24;SOR=0.797	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3215,297,0	9	1	0	0
chr6	154039729	154039729	-	CGG	exonic	OPRM1	.	nonframeshift insertion	OPRM1:NM_000914:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008503:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008504:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008505:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145282:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145283:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145284:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145285:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145286:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285522:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285523:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285524:exon2:c.464_465insCGG:p.G156_S157insG,OPRM1:NM_001145279:exon3:c.464_465insCGG:p.G156_S157insG	.	423	1079	20	0	0	20	0.00918274	.	.	.	2820830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0042	0.00259585	0.0074	0.0012	0.0019	0	0.0070	0.0096	0.0079	0.0095	0.0043031	112	26028	rs576853670	0.0068	0.0068	0.0067	0.0069	0.0097	0.0067	0.0066	0.0091	0.0089	0.0010	0.0028	0.0037	2.519e-05	0.0063	0.0064	0.0073	0.0063	0.0097	0.0051	0.0051	0.0054	0.0049	0.0079	0.0048	0.0047	0.0073	0.0071	0.0016	0.0011	0.0042	0.0060	0	0.0043	0.0068	0.0079	0.0057	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.015244	0.003788	0.15	6911.39	38	chr6	154039729	.	C	CCGG	6911.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.922;DP=529;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=31.42;ReadPosRankSum=1.19;SOR=0.739	GT:AD:DP:GQ:PL	1/1:0,105:105:99:4724,316,0	8	1	1	0
chr6	154406420	154406420	C	T	exonic	CNKSR3	.	nonsynonymous SNV	CNKSR3:NM_001368117:exon13:c.G1514A:p.S505N	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000399361	0.0005	0.0002	0.0004	0	0	0.0007	0	0.0008	0.000511	79	154602	rs375084512	0.0007	0.0007	0.0007	0.0008	0.0009	0.0007	0.0007	0.0008	0.0008	5.974e-05	0.0002	0	0	0	0.0003	0.0009	0.0006	0.0009	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0002	0	0	9.423e-05	0	0.0009	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.1	2950.12	34	chr6	154406420	.	C	T	2950.12	.	AC=2;AF=0.1;AN=20;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.8;SOR=1.09	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2973,297,0	9	1	0	0
chr6	159233994	159233994	C	T	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon11:c.C3482T:p.P1161L	.	406	1112	4	0	0	4	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0134296068196	.	.	0.0002	0	0.0008	0	0	0.0001	0.0019	0	8.41e-05	13	154602	rs781220916	7.162e-05	7.251e-05	7.663e-05	6.653e-05	0.0002	6.02e-05	5.625e-05	0.0001	9.398e-05	3e-05	0.0002	0	0	0	0.0002	7.852e-05	8.332e-05	0	4.595e-05	4.593e-05	7.708e-05	1.343e-05	8.82e-05	2.108e-05	1.526e-05	3.762e-05	2.575e-05	0	0	6.532e-05	0	0	0	0	8.82e-05	0	0	0.002	0.72154	D	0.067	0.44302	T	0.139	0.27501	B	0.058	0.26451	B	0.717991	0.06297	N	1.152980	1	0.08975	N	1.845	0.48678	L	3.21	0.07125	T	-2.59	0.55821	D	0.055	0.02658	-0.9509	0.40816	T	0.007	0.02478	T	10	0.045512795	0.03632	T	0.01343	0.32827	T	0.049	0.13647	0.216	0.13643	0.463586170655	0.45986	0.17563515384848222	0.17482	0.164274416294	0.18533	0.476238459349	0.35540	T	0.007974	0.07338	T	-0.396953	0.02424	T	-0.509036	0.21415	T	0.0770810111030435	0.09610	T	0.439856	0.12136	T	0.059997264	0.12260	0.10416944	0.25011	0.059997264	0.12260	0.10416944	0.25011	-3.647	0.18539	T	.	.	0.073	0.04477	B	.	.	2.157417	0.27483	17.48	0.95152996317821947	0.26290	0.12176	0.17107	N	AEFBCI	0.090347	0.18308	N	-0.688695226897764	0.16342	0.8317805	-0.707310783614877	0.16779	0.8891997	0.995287747378203	0.34045	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.613276	0.41899	0	.	.	4.43	3.49	0.39065	0.321000	0.19306	-0.169000	0.11245	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2153:0.6749:0.0:0.1098	4.788	0.12604	808	0.43318	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.005102	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	632.43	76	chr6	159233994	.	C	T	632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=556;ExcessHet=0;FS=5.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.995;SOR=1.019	GT:AD:DP:GQ:PL	0/1:29,23:52:99:644,0,765	9	0	1	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V	Hepatocellular carcinoma, somatic	427	993	99	3	0	105	0.0502152	.	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	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	0.025706	0.005051	0.014946	0.049708	0.000000	0.025862	0.036810	0.018939	0.05	1094.43	35	chr6	160048478	.	C	G	1094.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=428;ExcessHet=0;FS=1.526;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.956;SOR=0.704	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1106,0,1524	9	0	1	0
chr6	167976202	167976202	G	0	exonic	HGC6.3	.	.	.	.	547	870	80	2	23	107	0.0460526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	4443.63	78	chr6	167976202	.	G	*	4443.63	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.37;DP=626;ExcessHet=0.7463;FS=10.156;InbreedingCoeff=-0.2124;MLEAC=1;MLEAF=0.056;MQ=56.17;MQRankSum=4.13;QD=18.06;ReadPosRankSum=3.67;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,22:99:99:0|1:167976186_T_C:692,0,3167:167976186	8	0	1	1
chr6	167976212	167976212	A	0	exonic	HGC6.3	.	.	.	.	463	956	84	1	18	104	0.043043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	4052.12	79	chr6	167976212	.	A	*	4052.12	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.156;DP=626;ExcessHet=0.8432;FS=7.989;InbreedingCoeff=-0.0996;MLEAC=1;MLEAF=0.063;MQ=55.3;MQRankSum=3.91;QD=16.68;ReadPosRankSum=3.43;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,22:99:99:0|1:167976186_T_C:692,0,3167:167976186	7	0	1	2
chr6	167976228	167976228	T	0	exonic	HGC6.3	.	.	.	.	453	974	78	0	17	95	0.0384995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	3692.12	75	chr6	167976228	.	T	*	3692.12	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.207;DP=625;ExcessHet=0.8432;FS=11.423;InbreedingCoeff=-0.0996;MLEAC=1;MLEAF=0.063;MQ=54.08;MQRankSum=3.07;QD=15.19;ReadPosRankSum=0.115;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,22:99:99:0|1:167976186_T_C:692,0,3167:167976186	7	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	662.39	72	chr6	167976243	.	GTGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	G	662.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.212;DP=602;ExcessHet=0;FS=3.162;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=56.54;MQRankSum=-2.111;QD=6.31;ReadPosRankSum=-1.221;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,22:105:99:0|1:167976186_T_C:674,0,3392:167976186	9	0	1	0
chr6	167976245	167976245	G	0	exonic	HGC6.3	.	.	.	.	448	1014	2	0	58	60	0.000985222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3488.42	72	chr6	167976245	.	G	*	3488.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.015;DP=617;ExcessHet=0.7463;FS=5.921;InbreedingCoeff=-0.1767;MLEAC=1;MLEAF=0.05;MQ=53.54;MQRankSum=1.01;QD=13.63;ReadPosRankSum=-0.907;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,22:105:99:0|1:167976186_T_C:674,0,3392:167976186	9	0	1	0
chr6	167976249	167976291	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	0	exonic	HGC6.3	.	.	.	.	467	870	90	30	65	215	0.0793651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	4603.07	70	chr6	167976249	.	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	*	4603.07	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.24;DP=618;ExcessHet=0.6204;FS=2.257;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.056;MQ=54.81;MQRankSum=-3.714;QD=12.47;ReadPosRankSum=-0.238;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,22:105:99:0|1:167976186_T_C:674,0,3392:167976186	8	0	1	1
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	730.04	69	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	*	730.04	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.41;DP=688;ExcessHet=0.2065;FS=6.271;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=56.81;MQRankSum=-5.977;QD=2.19;ReadPosRankSum=-0.411;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,22:107:99:1|0:167976186_T_C:696,0,3005:167976186	7	1	2	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	1353.59	68	chr6	167976271	.	T	*	1353.59	.	AC=5;AF=0.313;AN=16;BaseQRankSum=2.93;DP=667;ExcessHet=0.7957;FS=1.88;InbreedingCoeff=-0.0311;MLEAC=6;MLEAF=0.375;MQ=55.16;MQRankSum=-4.962;QD=3.35;ReadPosRankSum=-2.838;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,19:107:99:1|0:167976186_T_C:537,0,2621:167976186	4	1	3	2
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	3211.87	73	chr6	167976273	.	A	*	3211.87	.	AC=5;AF=0.313;AN=16;DP=670;ExcessHet=0.218;FS=2.453;InbreedingCoeff=0.2593;MLEAC=6;MLEAF=0.375;MQ=55.05;QD=7.93;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,19:107:99:1|0:167976186_T_C:537,0,2621:167976186	4	1	3	2
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	0.05556	39.32	55	chr6	167976313	.	T	C	39.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.77;DP=613;ExcessHet=0.2633;FS=0.561;InbreedingCoeff=0.085;MLEAC=1;MLEAF=0.056;MQ=55.52;MQRankSum=-5.63;QD=0.19;ReadPosRankSum=0.497;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,18:84:39:0|1:167976186_T_C:603,0,2000:167976186	8	0	1	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	4030.24	57	chr6	167976329	.	T	*	4030.24	.	AC=2;AF=0.111;AN=18;BaseQRankSum=3.05;DP=641;ExcessHet=0.1398;FS=6.405;InbreedingCoeff=0.3056;MLEAC=2;MLEAF=0.111;MQ=54.23;MQRankSum=-5.5;QD=11.51;ReadPosRankSum=0.615;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,21:85:99:0|1:167976186_T_C:650,0,1933:167976186	7	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	401.39	62	chr6	167976346	.	TGGGGGTCATTCCCCCTGCAGTGTGG	T	401.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.438;DP=642;ExcessHet=0;FS=2.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.54;MQRankSum=-2.211;QD=3.94;ReadPosRankSum=0.743;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,16:102:99:0|1:167976186_T_C:413,0,3531:167976186	9	0	1	0
chr6	167976349	167976349	G	0	exonic	HGC6.3	.	.	.	.	482	915	83	38	4	163	0.0799397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3563.83	64	chr6	167976349	.	G	*	3563.83	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.267;DP=668;ExcessHet=0.0135;FS=2.131;InbreedingCoeff=0.4302;MLEAC=1;MLEAF=0.056;MQ=54.48;MQRankSum=1.91;QD=14.31;ReadPosRankSum=1.19;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,16:102:99:0|1:167976186_T_C:413,0,3531:167976186	8	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	311.39	64	chr6	167976379	.	AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	A	311.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.621;DP=661;ExcessHet=0;FS=4.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.69;MQRankSum=-2.76;QD=3.05;ReadPosRankSum=1.37;SOR=0.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,14:102:99:0|1:167976186_T_C:323,0,3648:167976186	9	0	1	0
chr6	167976391	167976391	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C262T:p.P88S	.	460	1054	2	0	6	8	0.000947867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.0011	0	0.0211	0.0333	0.0075	0	0.0226	0.0003299	51	154602	rs201618689	4.722e-05	4.747e-05	3.314e-05	6.262e-05	0.0033	3.348e-05	2.906e-05	0.0017	0.0012	0	0	0	0	9.768e-05	0.0033	1.686e-05	0	0.0003	0.0003	0.0004	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	8.641e-05	0	0.0002	0.0011	0.0003	0	0.0052	0.0004	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.071885	0.045455	0.106557	0.086207	0.125000	0.071429	0.060811	0.129032	0.05556	775.75	72	chr6	167976391	.	G	A	775.75	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.564;DP=665;ExcessHet=0;FS=5.823;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=52.04;MQRankSum=-4.511;QD=10.34;ReadPosRankSum=3.03;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,38:88:99:1|0:167976186_T_C:1135,0,1235:167976186	8	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	326.39	84	chr6	167976420	.	GAGAAGA	G	326.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.272;DP=611;ExcessHet=0;FS=2.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.15;MQRankSum=-2.667;QD=3.98;ReadPosRankSum=-0.007;SOR=0.578	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,13:82:99:0|1:167976186_T_C:338,0,2858:167976186	9	0	1	0
chr6	169231345	169231345	G	A	exonic	THBS2	.	nonsynonymous SNV	THBS2:NM_001381940:exon14:c.C2231T:p.A744V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	69.29	5	chr6	169231345	.	G	A	69.29	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=21;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.319;SOR=0.916	GT:AD:DP:GQ:PL	0/1:1,3:4:21:77,0,21	6	0	1	3
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	.	.	.	.	.	.	.	.	0.3333	641.49	22	chr7	290725	.	C	G	641.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.31;DP=256;ExcessHet=5.3821;FS=276.35;InbreedingCoeff=-0.5144;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.583;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,5:15:29:.:.:29,0,227:.	3	0	6	1
chr7	5501326	5501326	T	G	exonic	FBXL18	.	nonsynonymous SNV	FBXL18:NM_001321213:exon3:c.A943C:p.N315H,FBXL18:NM_001363441:exon3:c.A943C:p.N315H,FBXL18:NM_001363442:exon3:c.A943C:p.N315H,FBXL18:NM_001367780:exon3:c.A643C:p.N215H,FBXL18:NM_001367781:exon3:c.A643C:p.N215H,FBXL18:NM_024963:exon3:c.A943C:p.N315H	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0002	0.00279553	0.0017	0	0.0006	0	0	0.0002	0.0034	0.0106	0.0014553	225	154602	rs200815360	0.0009	0.0009	0.0005	0.0013	0.0121	0.0009	0.0008	0.0115	0.0113	2.987e-05	0.0007	7.653e-05	0	1.872e-05	0.0017	0.0001	0.0011	0.0121	0.0005	0.0005	0.0003	0.0007	0.0102	0.0004	0.0004	0.0079	0.0071	2.407e-05	0	0.0005	0.0003	0	0	0	0.0002	0.0014	0.0102	0.017	0.51248	D	0.08	0.44501	T	0.874	0.48047	P	0.444	0.45865	B	0.000120	0.50451	D	0.235140	0.514718	0.31618	N	1.7	0.43825	L	5.24	0.01136	T	-1.37	0.35399	N	0.29	0.32812	-0.8529	0.51767	T	0.006	0.01944	T	10	0.009071171	0.00205	T	.	.	.	0.081	0.23632	.	.	0.692070404995	0.68942	0.41379522466244645	0.41295	1.12069334561	0.78290	0.315385699272	0.12721	T	.	.	.	-0.529498	0.00387	T	-0.523968	0.19894	T	0.0326881207303189	0.02420	T	0.871013	0.57621	D	.	.	.	.	.	.	.	.	-3.265	0.13290	T	.	.	0.076	0.05935	B	.;.	.;.	3.399039	0.47096	22.4	0.99610423552778338	0.74753	0.94801	0.62376	D	AEFDGBI	0.510680	0.53963	D	0.297993359271477	0.56047	3.768936	0.363998749042663	0.59357	4.112676	0.995279838724383	0.34040	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	2.351000	0.43727	2.859000	0.35190	0.647000	0.52776	1.000000	0.71638	0.996000	0.32793	0.995000	0.73285	0.1538:0.0:0.0:0.8462	9.771	0.39755	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	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	2406.43	66	chr7	5501326	.	T	G	2406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=691;ExcessHet=0;FS=5.914;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.472;SOR=0.881	GT:AD:DP:GQ:PL	0/1:65,92:157:99:2418,0,1474	9	0	1	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	.	.	.	.	.	.	.	.	0.1667	78.14	79	chr7	5967064	.	G	A	78.14	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.664;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.3001;MLEAC=2;MLEAF=0.333;MQ=27;MQRankSum=0;QD=1.3;ReadPosRankSum=0.889;SOR=0.082	GT:AD:DP:GQ:PL	0/1:47,13:60:83:83,0,1107	2	0	1	7
chr7	6154745	6154745	A	G	exonic	USP42	.	nonsynonymous SNV	USP42:NM_001365764:exon15:c.A3191G:p.D1064G,USP42:NM_032172:exon15:c.A3191G:p.D1064G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.258902535628	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1035961563	1.407e-06	1.368e-06	0	2.844e-06	1.829e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.829e-06	0	0	1.316e-05	1.313e-05	2.574e-05	0	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	0.003	0.68238	D	0.043	0.54934	D	0.021	0.18474	B	0.021	0.19346	B	0.004853	0.33331	N	0.300277	0.97817	0.25266	N	1.545	0.39105	L	-0.05	0.63403	T	-2.19	0.50830	N	0.447	0.48504	-0.9190	0.45689	T	0.151	0.47891	T	10	0.1742878	0.32300	T	0.258903	0.89426	D	0.062	0.17934	0.485	0.56780	0.184605227958	0.18053	0.4917367183123608	0.49094	0.207682982897	0.23235	0.602073550224	0.53197	T	0.041562	0.25900	T	-0.0789342	0.39887	T	-0.35116	0.39072	T	0.826886475086212	0.48290	D	0.760924	0.38629	T	.	.	.	.	.	.	.	.	-5.83	0.44835	T	.	.	0.136	0.68917	B	.;.	.;.	3.288939	0.45099	22.1	0.99741618756531181	0.83555	0.84346	0.43428	D	AEFDGBCI	0.123050	0.23847	N	-0.317804946187092	0.28471	1.570689	-0.200204471491351	0.31530	1.785225	0.946719007251158	0.27719	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.77	3.38	0.37806	1.050000	0.30014	.	.	0.754000	0.88378	0.005000	0.17040	1.000000	0.68203	0.805000	0.37950	0.8393:0.0:0.1607:0.0	8.305	0.31199	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	920.43	35	chr7	6154745	.	A	G	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.07;DP=420;ExcessHet=0;FS=1.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.198;SOR=0.941	GT:AD:DP:GQ:PL	0/1:61,39:100:99:932,0,1373	9	0	1	0
chr7	6551069	6551069	C	A	exonic	GRID2IP	.	nonsynonymous SNV	GRID2IP:NM_001145118:exon1:c.G368T:p.R123L	.	.	.	.	.	.	.	.	.	.	.	4138943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.098272006083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291160096	7.94e-05	7.388e-05	7.84e-05	8.046e-05	8.907e-05	6.595e-05	6.112e-05	7.381e-05	6.805e-05	4.3e-05	0	0	0	0	0	8.907e-05	0.0001	0	6.627e-06	1.318e-05	1.295e-05	0	1.479e-05	0	0	.	.	0	0	0	0	0	0	0	1.479e-05	0	0	0.016	0.51853	D	0.155	0.31936	T	0.075	0.24198	B	0.038	0.23361	B	0.886317	0.07267	U	1.118960	1	0.08975	N	1.445	0.36358	L	1.12	0.38718	T	-2.38	0.52451	N	0.21	0.23380	-1.0284	0.20973	T	0.108	0.39075	T	10	0.1386728	0.26371	T	0.098272	0.76913	D	0.083	0.24192	0.389	0.41115	0.239305524855	0.23518	0.37236662360647804	0.37150	0.286913229122	0.31092	0.821439564228	0.85248	D	0.080613	0.36406	T	-0.157088	0.27208	T	-0.463422	0.26228	T	0.306086282065471	0.25254	T	0.555844	0.19272	T	0.20965779	0.43239	0.09127664	0.21450	0.20965779	0.43239	0.09127664	0.21450	-2.724	0.07506	T	.	.	0.139	0.30344	B	.	.	1.675292	0.21352	15.16	0.96675865911799574	0.30682	0.16758	0.19535	N	AEFDBI	0.074817	0.15008	N	-0.59422615701052	0.19119	0.998142	-0.595419239302423	0.19611	1.052999	0.882237880771509	0.25648	0.714655	0.82082	0	0.547309	0.14657	0	0.659618	0.59808	1	0.613276	0.41899	0	.	.	4.41	4.41	0.52588	1.669000	0.37108	.	.	0.466000	0.21733	0.074000	0.22182	1.000000	0.68203	0.003000	0.05239	0.0:1.0:0.0:0.0	13.225	0.59335	891	0.26808	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	58.68	2	chr7	6551069	.	C	A	58.68	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0;DP=45;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:6551062_G_A:69,0,193:6551062	8	0	1	1
chr7	12337209	12337209	C	T	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001346972:exon23:c.G4085A:p.R1362H,VWDE:NM_001346973:exon23:c.G3620A:p.R1207H,VWDE:NM_001135924:exon25:c.G4430A:p.R1477H	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00482301734087	.	0.000199681	0.0006	0	0	0	0	0.0013	0	0.0001	0.0001035	16	154602	rs200831817	0.0004	0.0004	0.0004	0.0004	0.0163	0.0004	0.0003	0.0136	0.0126	0.0002	0.0005	0.0038	0	0	0.0163	0.0002	0.0009	0.0003	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0003	0.0002	0.0001	0	0.0006	0.0032	0	0	0.0068	0.0004	0.0005	0.0008	0.14	0.25664	T	0.151	0.32355	T	0.008	0.14655	B	0.001	0.04355	B	0.001669	0.38326	N	0.290551	0.999979	0.18612	N	1.12	0.28775	L	4.01	0.03208	T	-1.08	0.28084	N	0.063	0.05670	-0.9708	0.37030	T	0.010	0.03492	T	10	0.0057286024	0.00128	T	0.004823	0.12066	T	0.027	0.05988	0.392	0.41606	0.0138822411134	0.00435	0.3675698280270462	0.36670	.	.	0.205601364374	0.00638	T	0.024127	0.18290	T	-0.537208	0.00348	T	-0.668889	0.07679	T	0.0543942820070091	0.06255	T	0.780822	0.55818	T	0.034094237	0.03758	0.037625372	0.03456	0.034094237	0.03758	0.037625372	0.03456	-5.356	0.40494	T	.	.	0.111	0.21691	B	.;.	.;.	2.067036	0.26282	17.06	0.99735146641489336	0.83047	0.11654	0.16775	N	AEFGBI	0.296706	0.40648	N	-0.672419484162656	0.16810	0.8597315	-0.65002549888652	0.18216	0.9721257	0.995111493317387	0.33959	0.50712	0.20391	0	0.573888	0.26702	0	0.658105	0.52812	0	0.620846	0.47308	0	.	.	4.86	-2.44	0.06126	0.123000	0.15536	-0.865000	0.07126	0.599000	0.40250	0.116000	0.23103	0.000000	0.08366	0.982000	0.59238	0.0893:0.1875:0.6455:0.0776	9.535	0.38381	853	0.34956	EGF-like domain|EGF-like domain;EGF-like 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	.	.	.	.	.	.	.	.	0.05	1716.43	40	chr7	12337209	.	C	T	1716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.31;DP=501;ExcessHet=0;FS=4.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-2.331;SOR=1.066	GT:AD:DP:GQ:PL	0/1:81,66:147:99:1728,0,1879	9	0	1	0
chr7	21570202	21570202	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon7:c.G1328A:p.S443N	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	2880854	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.060	0.0090133325924	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs751343231	5.68e-05	5.678e-05	3.677e-05	7.705e-05	0.0009	4.678e-05	4.303e-05	0.0007	0.0007	0	0	0	0	0	0	8.995e-07	8.284e-05	0.0009	1.314e-05	1.314e-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	0.412	0.10083	T	.	.	.	0.001	0.07471	B	0.003	0.08700	B	0.174421	0.17280	N	0.629924	0.999998	0.08975	N	1.7	0.43825	L	0.48	0.55945	T	-1.19	0.30346	N	0.133	0.12913	-1.0593	0.11931	T	0.077	0.30706	T	10	0.0323686	0.01387	T	0.009013	0.23726	T	0.060	0.17295	0.521	0.62368	0.190952846119	0.18690	0.06246320896005196	0.06186	.	.	0.271317303181	0.06314	T	0.048874	0.28145	T	-0.580719	0.00191	T	-0.65738	0.08444	T	0.0201378388494005	0.00714	T	0.440756	0.12177	T	0.04848343	0.08456	0.09435486	0.22331	0.042965915	0.06612	0.11152257	0.26900	-3.373	0.14695	T	.	.	0.075	0.05491	B	.;.;.	.;.;.	0.781895	0.11523	8.119	0.58214576424759013	0.05943	0.05104	0.10906	N	AEFBI	0.036288	0.04810	N	-1.02633019230634	0.08060	0.3766066	-0.988023027804073	0.10054	0.5039733	2.53197724953703E-4	0.06190	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.79	2.86	0.32427	0.039000	0.13770	0.143000	0.15197	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.480000	0.28565	0.2661:0.1466:0.4361:0.1512	1.234	0.01830	753	0.51500	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	1486.43	37	chr7	21570202	.	G	A	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.686;DP=506;ExcessHet=0;FS=1.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.803;SOR=0.821	GT:AD:DP:GQ:PL	0/1:102,69:171:99:1498,0,2523	9	0	1	0
chr7	21601166	21601166	T	C	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon17:c.T3412C:p.F1138L	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1117739	Primary_ciliary_dyskinesia_7|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	0.00961845868204	0.0003	.	0.0001	0	8.741e-05	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs200099996	8.361e-05	8.345e-05	7.829e-05	8.899e-05	0.0037	7.14e-05	6.685e-05	0.0025	0.0021	3.083e-05	0.0001	0.0004	0	0	0.0037	5.863e-05	0.0001	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.713e-05	0.0002	0.0002	0	0	0.0001	0.0003	0	0	0.0034	0.0003	0	0	0.196	0.20683	T	.	.	.	0.915	0.50599	P	0.395	0.44317	B	0.000415	0.44736	D	0.193797	0.870611	0.35556	D	2.095	0.58118	M	2.0	0.21473	T	-2.71	0.57762	D	0.492	0.54059	-1.0585	0.12134	T	0.041	0.17573	T	9	0.13615233	0.25905	T	0.009618	0.25153	T	0.161	0.41658	0.59	0.71874	0.246215685461	0.24236	0.18125520941019954	0.18044	.	.	0.585629045963	0.50879	T	0.135544	0.46742	T	-0.291554	0.09481	T	-0.408265	0.32424	T	0.137430080042322	0.16052	T	0.768923	0.39853	T	0.21268004	0.43627	0.32094908	0.58047	0.2333323	0.46135	0.4104647	0.65306	-5.167	0.38604	T	0.4123996912488556	0.50249	0.781	0.76425	P	.;.;.	.;.;.	2.585093	0.33527	19.37	0.99188821766702806	0.54906	0.82196	0.41461	D	AEFBI	0.215124	0.34051	N	0.218163643360939	0.52079	3.384519	0.296132779568994	0.55313	3.694494	0.057908915812799	0.15108	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.56	5.56	0.83678	1.432000	0.34545	5.077000	0.47232	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.377	0.74327	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.05	1592.43	46	chr7	21601166	.	T	C	1592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=518;ExcessHet=0;FS=5.559;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.97;SOR=1.211	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1604,0,1728	9	0	1	0
chr7	23781504	23781504	A	G	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon16:c.A1982G:p.H661R,STK31:NM_001260505:exon16:c.A2051G:p.H684R,STK31:NM_031414:exon16:c.A2051G:p.H684R,STK31:NM_032944:exon16:c.A1982G:p.H661R	.	449	1021	49	3	0	55	0.0262279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0045	0.0103834	0.0079	0.0009	0.0026	0.0002	0.0003	0.0066	0.0111	0.0278	0.0073996	1144	154602	rs41273999	0.0060	0.0061	0.0053	0.0067	0.0278	0.0059	0.0059	0.0269	0.0265	0.0011	0.0030	0.0096	7.602e-05	0.0010	0.0209	0.0048	0.0079	0.0278	0.0042	0.0042	0.0038	0.0045	0.0263	0.0039	0.0038	0.0226	0.0212	0.0008	0	0.0044	0.0078	0	0.0005	0.0068	0.0053	0.0047	0.0263	0.662	0.04671	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.505693	0.988811	0.24368	N	0.49	0.13296	N	-0.15	0.65192	T	-0.35	0.12847	N	0.173	0.37301	-1.0199	0.23747	T	0.070	0.28708	T	10	0.0037102103	0.00068	T	.	.	.	0.064	0.18567	.	.	0.489938136499	0.48625	0.3644048311763441	0.36354	0.0671763946976	0.07503	0.306679606438	0.11405	T	7.55E-4	0.00354	T	-0.516774	0.00459	T	-0.494814	0.22886	T	0.000411108664880323	0.00003	T	0.60444	0.23473	T	0.040007167	0.05631	0.057216644	0.10363	0.040007167	0.05631	0.057216644	0.10362	-2.327	0.04705	T	.	.	0.054	0.00478	B	.;.;.	.;.;.	1.417616	0.18337	13.68	0.17921150690072041	0.00542	0.43593	0.27132	N	AEFI	0.079134	0.15977	N	-0.806970563940849	0.13132	0.644779	-0.670014664965709	0.17712	0.9430189	1.64631360154252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	-0.0622	0.13113	0.959000	0.28838	0.915000	0.22659	0.691000	0.84096	0.997000	0.40164	0.408000	0.24745	0.927000	0.46353	0.4894:0.0:0.5106:0.0	10.015	0.41180	606	0.67383	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019637	0.005051	0.006793	0.014620	0.000000	0.025862	0.030488	0.034091	0.15	2962.43	34	chr7	23781504	.	A	G	2962.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.858;DP=444;ExcessHet=0;FS=2.17;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.449;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,45:92:99:869,0,1054	8	1	1	0
chr7	31652795	31652795	C	G	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon13:c.C3101G:p.P1034R,ITPRID1:NM_001257967:exon15:c.C3101G:p.P1034R	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00615268077865	0.0032	0.00119808	0.0034	0.0005	0.0010	0	0.0009	0.0051	0.0011	0.0032	0.0033829	523	154602	rs34177136	0.0043	0.0043	0.0042	0.0044	0.0049	0.0042	0.0042	0.0048	0.0048	0.0005	0.0013	0.0040	0	0.0010	0.0031	0.0049	0.0038	0.0036	0.0031	0.0031	0.0033	0.0029	0.0055	0.0029	0.0028	0.0050	0.0048	0.0010	0	0.0011	0.0072	0	0.0007	0.0034	0.0055	0.0033	0.0010	0.006	0.61437	D	0.0	0.92824	D	0.815	0.45525	P	0.314	0.41528	B	0.843657	0.07014	N	1.098150	1	0.08975	N	.	.	.	2.26	0.17596	T	-1.48	0.36189	N	0.124	0.19459	-1.0302	0.20390	T	0.029	0.12365	T	10	0.0040017962	0.00077	T	0.006153	0.16111	T	0.031	0.07369	.	.	0.0986583533028	0.09354	.	.	.	.	0.252019762993	0.03984	T	0.004624	0.04028	T	-0.638039	0.00086	T	-0.686386	0.06600	T	0.0065397225368435	0.00073	T	0.679032	0.28770	T	0.045630172	0.07501	0.04477363	0.05876	0.045630172	0.07501	0.04477363	0.05875	-3.754	0.22062	T	.	.	0.113	0.22354	B	.;.;.;.	.;.;.;.	1.911327	0.24272	16.34	0.92222356321370735	0.21597	0.03313	0.08377	N	AEFI	0.059684	0.11290	N	-0.835650302720572	0.12406	0.6045303	-1.01817122154694	0.09386	0.4666579	0.780041901574174	0.23825	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.96	-0.303	0.12158	0.035000	0.13685	0.077000	0.14340	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.1791:0.504:0.0:0.3169	3.633	0.07680	850	0.35610	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.010870	0.002924	0.000000	0.008621	0.015244	0.003788	0.1	1734.14	37	chr7	31652795	.	C	G	1734.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.984;DP=423;ExcessHet=0.2348;FS=2.841;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.05;SOR=1.103	GT:AD:DP:GQ:PL	0/1:39,37:76:99:1056,0,1088	8	0	2	0
chr7	33096497	33096497	C	T	exonic	RP9	.	nonsynonymous SNV	RP9:NM_203288:exon5:c.G463A:p.V155I	.	5	1516	1	0	0	1	0.000329707	.	.	.	176987	not_provided|Retinitis_pigmentosa|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.114	.	0.0005	0.00239617	0.0016	0.0009	8.651e-05	0	0	1.498e-05	0	0.0114	0.0013713	212	154602	rs58377403	0.0007	0.0007	0.0004	0.0009	0.0103	0.0006	0.0006	0.0097	0.0095	0.0007	8.946e-05	0	5.041e-05	0	0.0007	8.122e-06	0.0006	0.0103	0.0005	0.0005	0.0003	0.0008	0.0102	0.0004	0.0004	0.0079	0.0071	0.0008	0	0	0	0	0	0	0	0	0.0102	0.205	0.22224	T	0.224	0.25591	T	0.006	0.13644	B	0.002	0.06944	B	0.002157	0.37138	N	0.288654	0.994108	0.23586	N	1.155	0.29575	L	-1.66	0.83327	D	-0.54	0.17417	N	0.14	0.13911	-0.8088	0.54623	T	0.344	0.70916	T	10	0.0058200657	0.00130	T	.	.	.	0.114	0.32008	.	.	0.541149246611	0.53767	0.011893670648028801	0.01149	0.795883944927	0.66040	0.467322140932	0.34313	T	0.040517	0.25553	T	-0.440544	0.01284	T	-0.396192	0.33827	T	0.0112152093519789	0.00165	T	0.805019	0.45286	T	0.02517835	0.01428	0.03503643	0.02681	0.02681658	0.01789	0.037473053	0.03407	-2.683	0.07161	T	0.09472439018788473	0.06370	0.072	0.04277	B	.;.	.;.	0.397450	0.07687	4.362	0.9213565807397972	0.21494	0.05368	0.11229	N	AEFBHCI	0.028427	0.02501	N	-0.682693478851691	0.16515	0.8421074	-0.649702365751174	0.18223	0.9726028	0.446587844052554	0.20502	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.66	-0.294	0.12196	0.299000	0.18892	-0.388000	0.09495	0.530000	0.24713	0.271000	0.25055	0.000000	0.08366	0.753000	0.35893	0.0:0.5807:0.0:0.4193	8.708	0.33527	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1068.43	36	chr7	33096497	.	C	T	1068.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.469;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.1;SOR=0.765	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1080,0,830	9	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	.	.	.	.	.	.	.	.	0.3	376.29	108	chr7	43624718	.	C	G	376.29	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.305;DP=964;ExcessHet=4.5998;FS=280.433;InbreedingCoeff=-0.4254;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.14;SOR=10.021	GT:AD:DP:GQ:PL	0/1:70,21:104:67:67,0,1254	4	0	6	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	916.9	137	chr7	47829596	.	G	C	916.9	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.646;DP=1246;ExcessHet=22.563;FS=294.996;InbreedingCoeff=-0.914;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.475;SOR=11.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,19:106:23:.:.:39,0,944:.	4	0	6	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4375	1877.94	33	chr7	50368104	.	C	G	1877.94	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-4.104;DP=1523;ExcessHet=7.0302;FS=219.639;InbreedingCoeff=-0.6579;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=2.04;SOR=11.783	GT:AD:DP:GQ:PL	0/1:110,48:163:99:345,0,1797	1	0	7	2
chr7	51136165	51136165	G	A	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001287436:exon6:c.C950T:p.S317L,COBL:NM_001287438:exon6:c.C950T:p.S317L,COBL:NM_001346441:exon6:c.C950T:p.S317L,COBL:NM_001346442:exon6:c.C950T:p.S317L,COBL:NM_001346443:exon6:c.C950T:p.S317L,COBL:NM_001346444:exon6:c.C950T:p.S317L,COBL:NM_015198:exon6:c.C950T:p.S317L	.	.	.	.	.	.	.	.	.	.	.	2760756	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0159398164582	.	0.000199681	8.419e-05	0	0.0005	0.0001	0	3.033e-05	0.0012	0	9.06e-05	14	154602	rs192731501	1.782e-05	1.915e-05	1.228e-05	2.343e-05	0.0002	1.24e-05	1.054e-05	7.742e-05	5.324e-05	0.0002	0.0002	0	2.519e-05	0	0	7.197e-06	0	4.654e-05	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0004	8.14e-06	5.14e-06	6.823e-05	2.855e-05	2.407e-05	0	6.541e-05	0	0.0004	0	0	0	0	0	0.005	0.63226	D	0.028	0.63109	D	0.995	0.68779	D	0.73	0.60107	P	0.043412	0.23741	N	0.214517	1	0.08975	N	2.175	0.60977	M	0.74	0.51474	T	-3.33	0.67359	D	0.225	0.27673	-0.7629	0.57248	T	0.247	0.61589	T	10	0.07155752	0.10565	T	0.01594	0.36945	T	0.138	0.37187	.	.	0.390292564088	0.38643	0.1396633802827375	0.13889	0.0913205535873	0.10314	0.471656054258	0.34908	T	0.068751	0.57286	T	-0.289444	0.09692	T	-0.368829	0.37025	T	0.417012135224819	0.29580	T	0.784422	0.48536	T	0.07901722	0.18028	0.12240281	0.29526	0.07901722	0.18027	0.12240281	0.29526	-3.048	0.54811	T	.	.	0.075	0.10111	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.433935	0.47740	22.5	0.9987174868973504	0.94902	0.05844	0.11787	N	AEFBI	0.095801	0.19350	N	0.166410464010366	0.49590	3.157843	0.0435289501251497	0.41760	2.514286	0.999870457749952	0.44625	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.37	5.37	0.76949	1.148000	0.31226	2.929000	0.35606	0.676000	0.76740	0.021000	0.19753	0.985000	0.30750	0.973000	0.55318	0.0:0.1545:0.6857:0.1598	9.383	0.37487	830	0.39242	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2251.43	36	chr7	51136165	.	G	A	2251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=496;ExcessHet=0;FS=1.173;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.448;SOR=0.796	GT:AD:DP:GQ:PL	0/1:91,89:180:99:2263,0,1969	9	0	1	0
chr7	73769649	73769649	G	A	exonic	CLDN3	.	nonsynonymous SNV	CLDN3:NM_001306:exon1:c.C401T:p.P134L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.338304977053	0.0048	0.000998403	0.0045	0.0026	0.0012	0	0.0032	0.0070	0.0013	0.0014	0.0043725	676	154602	rs139191328	0.0080	0.0080	0.0082	0.0078	0.0098	0.0079	0.0078	0.0097	0.0096	0.0013	0.0013	0.0007	0	0.0027	0.0023	0.0098	0.0062	0.0014	0.0050	0.0050	0.0051	0.0049	0.0077	0.0047	0.0046	0.0072	0.0070	0.0019	0.0713	0.0028	0.0023	0	0.0024	0	0.0077	0.0033	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.08	0.97210	H	-2.39	0.88377	D	-9.39	0.98373	D	0.915	0.91736	0.889	0.95529	D	0.851	0.95042	D	10	0.09829411	0.17763	T	0.338305	0.91944	D	0.833	0.94728	.	.	0.944473789665	0.94389	0.9524202634382367	0.95226	1.64967642936	0.89525	0.691883206367	0.65977	T	0.826813	0.95824	D	0.163458	0.70520	D	0.469553	0.93993	D	0.185592541352923	0.19581	T	0.987501	0.95747	D	0.9028038	0.91635	0.7814793	0.87120	0.9028038	0.91636	0.7814793	0.87121	-9.618	0.71591	D	.	.	0.939	0.85832	P	.	.	5.725103	0.93246	33	0.99879466011080964	0.95572	0.97722	0.76661	D	AEFDBHCI	0.922051	0.89645	D	1.03857273250529	0.96812	15.17798	0.925562101245292	0.96593	14.89019	0.999999999999932	0.74766	0.72623	0.87236	0	0.59043	0.45803	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.94	4.94	0.64645	9.942000	0.98926	9.855000	0.82016	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	15.671	0.77029	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	0.003027	0.005102	0.001359	0.002924	0.000000	0.008621	0.000000	0.007576	0.05	1267.43	36	chr7	73769649	.	G	A	1267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.57;DP=452;ExcessHet=0;FS=1.401;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.157;SOR=0.627	GT:AD:DP:GQ:PL	0/1:85,51:136:99:1279,0,2075	9	0	1	0
chr7	80671950	80671956	TTTTCTG	-	exonic	CD36	.	frameshift deletion	CD36:NM_001289908:exon7:c.918_924del:p.F307Mfs*13,CD36:NM_001371080:exon8:c.570_576del:p.F191Mfs*13,CD36:NM_001127444:exon9:c.1035_1041del:p.F346Mfs*13,CD36:NM_001289909:exon9:c.855_861del:p.F286Mfs*13,CD36:NM_001289911:exon9:c.807_813del:p.F270Mfs*13,CD36:NM_001127443:exon10:c.1035_1041del:p.F346Mfs*13,CD36:NM_000072:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001001547:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001001548:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371074:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371075:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371077:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371078:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371079:exon11:c.933_939del:p.F312Mfs*13,CD36:NM_001371081:exon11:c.570_576del:p.F191Mfs*13	Platelet glycoprotein IV deficiency, Autosomal recessive	4	1509	9	0	0	9	0.00297324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.537e-06	7.525e-06	6.819e-06	8.263e-06	0.0007	4.05e-06	2.96e-06	0.0002	0.0001	0	0	0	0	0	0.0007	9.006e-07	4.978e-05	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1699.39	38	chr7	80671949	.	ATTTTCTG	A	1699.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=423;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-1.118;SOR=0.929	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1711,0,1775	9	0	1	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	92.44	144	chr7	80674068	.	T	C	92.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-5.327;DP=847;ExcessHet=0.7463;FS=134.406;InbreedingCoeff=-0.1534;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.37;SOR=10.061	GT:AD:DP:GQ:PL	0/1:109,33:142:85:85,0,2236	7	0	3	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	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,30:181:45:.:.:45,0,5145:.	0	0	10	0
chr7	95372278	95372278	T	C	exonic	PON3	.	nonsynonymous SNV	PON3:NM_000940:exon4:c.A262G:p.M88V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00735743752314	0.0010	0.000399361	0.0009	0	0	0	0	0.0016	0	0.0003	0.0008926	138	154602	rs78883915	0.0008	0.0008	0.0008	0.0009	0.0017	0.0008	0.0008	0.0009	0.0007	2.987e-05	0.0002	0.0173	0	3.745e-05	0.0017	0.0006	0.0016	0.0003	0.0008	0.0008	0.0010	0.0006	0.0008	0.0007	0.0007	0.0007	0.0006	2.404e-05	0	0.0002	0.0176	0	0	0.0034	0.0008	0.0019	0	0.016	0.51853	D	0.142	0.35710	T	0.019	0.17989	B	0.007	0.12992	B	0.000006	0.62929	D	0.112377	1	0.81001	D	2.315	0.66250	M	2.5	0.14408	T	-2.39	0.52612	N	0.167	0.17691	-1.0797	0.07407	T	0.035	0.15117	T	10	0.0073266327	0.00167	T	0.007357	0.19523	T	0.107	0.30369	.	.	0.236278675362	0.23226	0.528582759772043	0.52782	0.0537011207665	0.05932	.	.	.	0.047226	0.31249	T	-0.52635	0.00404	T	-0.553469	0.16994	T	0.049477466598117	0.05407	T	0.815918	0.47089	T	0.33218545	0.55649	0.34408203	0.60110	0.33218545	0.55649	0.34408203	0.60109	-4.147	0.25980	T	.	.	0.110	0.23077	B	.;.;.	.;.;.	1.886097	0.23959	16.22	0.9724767235935744	0.33029	0.82333	0.41576	D	AEFI	0.743571	0.68683	D	-0.141185248096333	0.35611	2.047668	-0.0327001022340688	0.38248	2.250676	0.0011121357996498	0.08239	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.82	3.67	0.41236	1.750000	0.37956	2.198000	0.31263	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1505:0.081:0.0:0.7685	5.649	0.16880	882	0.29131	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1217.43	39	chr7	95372278	.	T	C	1217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.02;SOR=0.685	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1229,0,848	9	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,32:91:99:0|1:100175805_G_C:707,0,1951:100175805	0	0	10	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2395.99	585	chr7	100952945	.	C	*	2395.99	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.589;DP=6147;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=58.41;MQRankSum=-8.207;QD=0.39;ReadPosRankSum=3.15;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:377,154:531:99:0|1:100952930_T_C:5332,0,15367:100952930	3	0	7	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6958.44	427	chr7	100953156	.	C	*	6958.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.64;DP=5266;ExcessHet=22.563;FS=8.617;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=57.64;MQRankSum=-15.09;QD=1.34;ReadPosRankSum=1.11;SOR=1.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,105:542:99:0|1:100953112_T_A:3223,0,16228:100953112	3	0	7	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:397,98:535:99:2920,0,16375	1	0	9	0
chr7	100999834	100999834	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9271A:p.A3091T	.	462	1038	22	0	0	22	0.0104862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.0118805894723	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147697272	4.529e-06	0.0003	2.979e-06	6.122e-06	1.336e-05	1.63e-06	1.07e-06	1.42e-06	1.03e-06	0	0	0	0	0	0	4.835e-06	0	1.336e-05	0.0001	0.0034	0.0001	0.0001	0.0003	7.688e-05	6.373e-05	0.0002	0.0002	0.0003	0	6.612e-05	0	0	9.446e-05	0	2.97e-05	0	0.0002	0.117	0.28271	T	0.25	0.23707	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.65	0.12676	T	0.38	0.03700	N	0.026	0.03283	-0.9374	0.43025	T	0.013	0.04938	T	7	0.05045861	0.04783	T	0.011881	0.29939	T	0.001	0.00016	0.116	0.02439	0.0297737177859	0.01360	0.010246021458631826	0.00986	.	.	0.509776294231	0.40191	T	0.00365	0.03060	T	-0.41745	0.01776	T	-0.837414	0.01138	T	0.0442432217210362	0.04464	T	0.232777	0.03611	T	0.02471517	0.01331	0.040714942	0.04463	0.02471517	0.01331	0.040714942	0.04463	-2.016	0.03242	T	.	.	0.099	0.16582	B	.;.	.;.	-0.465638	0.01980	0.173	0.79908635840154496	0.12956	0.00180	0.01055	N	AEFI	0.030282	0.03017	N	-1.33470684704216	0.03286	0.1465343	-1.48318087727813	0.02482	0.1142237	1.19783675759286E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.869	-0.109	0.12922	-0.982000	0.03873	-8.331000	0.00988	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2687:0.0:0.7313:0.0	4.332	0.10507	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	173.43	34	chr7	100999834	.	G	A	173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.074;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.17;MQRankSum=-6.049;QD=0.91;ReadPosRankSum=-1.349;SOR=0.024	GT:AD:DP:GQ:PL	0/1:165,25:190:99:185,0,5129	9	0	1	0
chr7	101000530	101000530	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9967A:p.V3323I	.	358	1159	5	0	0	5	0.00215239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0186583538891	.	.	0.0003	0	0	0	0.0025	0.0004	0	0	3.84e-05	1	26028	rs764731576	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.204	0.20078	T	0.248	0.24264	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.76	0.11515	T	-0.41	0.14000	N	0.048	0.03175	-0.9578	0.39589	T	0.011	0.04321	T	6	0.017803043	0.00382	T	0.018658	0.40796	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.012386921560435575	0.01197	.	.	0.542572498322	0.44809	T	0.003468	0.02879	T	-0.419208	0.01730	T	-0.83994	0.01099	T	0.0362322432272147	0.03021	T	0.175782	0.01728	T	0.07191384	0.15958	0.058027796	0.10653	0.07191384	0.15957	0.058027796	0.10653	-5.897	0.45410	T	.	.	0.134	0.31583	B	.;.	.;.	-0.759034	0.01190	0.058	0.5111400784289799	0.04504	0.00016	0.00195	N	AEFBI	0.024298	0.01482	N	-1.35145559976251	0.03110	0.1383987	-1.53587876634206	0.02074	0.09487683	2.90944674367213E-5	0.03498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-4.275000	0.00298	-12.385000	0.00529	-2.088000	0.00400	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2438.14	1537	chr7	101000530	.	G	A	2438.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=5.28;DP=10803;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=40.84;MQRankSum=-4.285;QD=0.57;ReadPosRankSum=0.839;SOR=0.7	GT:AD:DP:GQ:PL	0/1:1785,229:2014:99:821,0,44790	8	0	2	0
chr7	101039818	101039818	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8402G:p.P2801R	.	428	1091	3	0	0	3	0.001373	.	.	.	3379407	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.000957552015421	.	.	.	.	.	.	.	.	.	.	0.0040341	105	26028	rs1004398115	3.454e-06	0.0029	2.749e-06	4.165e-06	3.628e-06	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	3.912e-05	0	0	0	3.628e-06	0	0	0.0002	0.0075	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	0.0003	0	0.0002	0	0	6.025e-05	0	0.0004	0.024	0.47745	D	.	.	.	0.994	0.66517	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.57	0.01917	T	-1.58	0.38151	N	0.101	0.08366	-0.9294	0.44227	T	0.010	0.03856	T	9	0.18032071	0.33210	T	9.58E-4	0.00980	T	0.045	0.12272	0.196	0.10839	0.110078149338	0.10416	0.0014453802351999043	0.00133	.	.	0.246509730816	0.03409	T	0.033466	0.22927	T	-0.325489	0.06458	T	-0.705319	0.05540	T	0.118476174771786	0.14280	T	0.450755	0.12737	T	0.047618616	0.08168	0.05372311	0.09104	0.047618616	0.08167	0.05372311	0.09103	-6.882	0.53166	T	.	.	0.175	0.38372	B	.	.	1.157688	0.15464	11.87	0.31560487101999807	0.01785	0.00516	0.02410	N	AEFBI	0.041427	0.06297	N	-1.00578522340815	0.08482	0.3979146	-1.26687851502205	0.04886	0.2315516	1.0614227553124E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.989	0.09718	1.165000	0.31432	-11.132000	0.00632	0.305000	0.19019	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.577:0.2437:0.1793	4.029	0.09186	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1538.14	39	chr7	101039818	.	C	G	1538.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.773;DP=2836;ExcessHet=0.2348;FS=2.049;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.52;MQRankSum=-19.22;QD=1.19;ReadPosRankSum=-8.223;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:539,59:598:99:0|1:101039755_T_C:826,0,22323:101039755	8	0	2	0
chr7	101041315	101041315	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C9899G:p.T3300S	.	423	1032	64	0	3	67	0.0300752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000797686807019	.	.	0.0007	0.0056	0.0002	0.0002	0	0.0002	0	0.0004	3.84e-05	1	26028	rs767499579	0.0001	0.0078	7.089e-05	0.0001	0.0003	8.847e-05	8.323e-05	0.0002	0.0001	0.0003	0	0.0002	0.0001	0.0001	0	9.253e-05	0.0001	0.0001	0.0002	0.0081	0.0002	0.0003	0.0007	0.0002	0.0002	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0.0003	0	7.548e-05	0	0.0007	0.192	0.20988	T	.	.	.	0.88	0.48402	P	0.899	0.63802	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	4.43	0.02158	T	-1.74	0.41239	N	0.048	0.01999	-0.9224	0.45224	T	0.009	0.03448	T	9	0.00892818	0.00202	T	7.98E-4	0.00629	T	0.040	0.10527	0.109	0.01988	0.0297737177859	0.01360	0.0019091198207518087	0.00176	.	.	0.236632063985	0.02495	T	0.017008	0.13954	T	-0.367334	0.03731	T	-0.74994	0.03488	T	0.161113634746503	0.17953	T	0.271373	0.04588	T	0.04515721	0.07342	0.038364127	0.03688	0.04515721	0.07342	0.038364127	0.03687	-7.002	0.54048	T	.	.	0.124	0.26232	B	.	.	0.620546	0.09889	6.650	0.63904115767669034	0.07348	0.01337	0.04602	N	AEFGBCI	0.059159	0.11153	N	-0.725181857677329	0.15315	0.7707846	-0.964285812873939	0.10594	0.5345315	4.36124884812834E-4	0.06970	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.656	0.656	0.17016	0.128000	0.15636	-1.896000	0.04535	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6645:0.0:0.3355	3.074	0.05863	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	110.43	39	chr7	101041315	.	C	G	110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.97;DP=1458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.77;MQRankSum=-22.37;QD=0.17;ReadPosRankSum=3.28;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:615,47:662:99:0|1:101041292_G_A:122,0,25654:101041292	9	0	1	0
chr7	114979583	114979583	G	A	exonic	MDFIC	.	nonsynonymous SNV	MDFIC:NM_001166345:exon4:c.G295A:p.G99S,MDFIC:NM_199072:exon4:c.G622A:p.G208S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0121354042914	.	0.000599042	0.0004	0	0	0	0	0	0	0.0026	0.0002975	46	154602	rs548881845	0.0002	0.0002	8.44e-05	0.0003	0.0025	0.0002	0.0001	0.0022	0.0021	2.987e-05	2.236e-05	0	0	0	0	2.788e-05	8.279e-05	0.0025	0.0001	0.0001	0.0001	0.0002	0.0044	9.147e-05	7.703e-05	0.0029	0.0025	0	0	0	0	0	0	0	0	0	0.0044	0.021	0.49117	D	0.052	0.47581	T	0.196	0.29532	B	0.051	0.25434	B	0.015223	0.28305	N	0.319263	0.649231	0.32948	D	1.6	0.40776	L	.	.	.	-3.04	0.80943	D	0.201	0.22228	-0.9702	0.37157	T	0.144	0.46714	T	9	0.0062813163	0.00142	T	0.012135	0.30425	T	0.092	0.26621	0.333	0.32005	0.278143212241	0.27437	0.43147429968299356	0.43064	.	.	0.348769247532	0.17741	T	0.334799	0.70449	T	-0.326329	0.06392	T	-0.246763	0.50136	T	0.118909111224193	0.14324	T	0.783522	0.42899	T	0.18291563	0.39533	0.12875122	0.30970	0.18291563	0.39533	0.12875122	0.30969	-5.498	0.41849	T	.	.	0.076	0.12891	B	.;.;.;.;.	.;.;.;.;.	1.912160	0.24286	16.34	0.99606107336148597	0.74516	0.69246	0.34112	D	ALL	0.179751	0.30704	N	-0.237509634428962	0.31604	1.773863	-0.148008306766491	0.33484	1.915904	1.0	0.98316	0.839682	0.99964	0	0.696144	0.67643	0	0.693117	0.63056	0	0.830532	0.99962	0	.	.	5.98	3.14	0.35196	1.733000	0.37779	1.120000	0.24235	0.618000	0.50648	0.981000	0.35396	0.613000	0.25778	0.944000	0.48669	0.1349:0.0:0.7227:0.1424	8.015	0.29539	769	0.49307	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1609.12	35	chr7	114979583	.	G	A	1609.12	.	AC=2;AF=0.1;AN=20;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.84;SOR=2.078	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1632,147,0	9	1	0	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	80.08	41	chr7	124032238	.	T	C	80.08	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.801;DP=967;ExcessHet=0.7463;FS=125.612;InbreedingCoeff=-0.1934;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.84;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,27:136:34:0|1:124032233_G_A:34,0,2983:124032233	7	0	3	0
chr7	127904764	127904764	A	G	exonic	SND1	.	nonsynonymous SNV	SND1:NM_014390:exon14:c.A1472G:p.K491R	.	431	1087	4	0	0	4	0.00183655	.	.	.	2357783	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.00750382533737	0.0002	.	0.0004	0	0	0	0	0.0004	0.0011	0.0012	0.0003169	49	154602	rs144122605	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	0	0.0001	0.0021	0	0	0.0023	5.86e-05	0.0004	0.0012	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	9.701e-05	0.0005	0.0004	0	0	0.0003	0.0017	0	0	0	0.0001	0.0005	0.0012	0.113	0.28772	T	0.178	0.30926	T	0.393	0.34680	B	0.305	0.41207	B	0.000002	0.62929	D	0.132970	0.999998	0.58761	D	1.345	0.33447	L	1.56	0.29602	T	-1.72	0.44852	N	0.416	0.45615	-1.0672	0.10039	T	0.083	0.32556	T	10	0.06710884	0.09302	T	0.007504	0.19899	T	0.119	0.33137	.	.	0.476378746412	0.47268	0.6827139062357255	0.68210	0.635579275713	0.57371	0.780789375305	0.79046	T	0.074646	0.34989	T	-0.416459	0.01803	T	-0.421432	0.30912	T	0.0498448775756162	0.05473	T	0.953705	0.82322	D	0.20409663	0.42508	0.11491659	0.27740	0.20409663	0.42508	0.11491659	0.27739	-8.524	0.64588	D	.	.	0.129	0.27523	B	.;.	.;.	4.201388	0.63402	24.6	0.99692490377740417	0.80044	0.96301	0.68472	D	AEFDBI	0.800481	0.72645	D	0.303883542459497	0.56347	3.799349	0.443271240307086	0.64287	4.680329	0.999999998526599	0.74766	0.741868	0.97996	0	0.698795	0.70079	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	5.88	5.88	0.94564	6.543000	0.73776	11.198000	0.88920	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.24	0.65499	829	0.39537	Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1249.43	36	chr7	127904764	.	A	G	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.153;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.007;SOR=0.64	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1261,0,1587	9	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3889	3155.34	233	chr7	128479325	.	T	C	3155.34	.	AC=7;AF=0.389;AN=18;BaseQRankSum=3.39;DP=2112;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=57.37;MQRankSum=-12.3;QD=2.18;ReadPosRankSum=-3.823;SOR=5.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,21:191:99:0|1:128479325_T_C:371,0,7003:128479325	2	0	7	1
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.4375	3209.13	233	chr7	128479326	.	G	C	3209.13	.	AC=7;AF=0.438;AN=16;BaseQRankSum=2.7;DP=2129;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=57.39;MQRankSum=-12.3;QD=2.21;ReadPosRankSum=-3.844;SOR=5.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,21:191:99:0|1:128479325_T_C:371,0,7003:128479325	1	0	7	2
chr7	139053537	139053537	G	A	exonic	ZC3HAV1	.	nonsynonymous SNV	ZC3HAV1:NM_001363491:exon12:c.C2729T:p.A910V,ZC3HAV1:NM_020119:exon12:c.C2363T:p.A788V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.013672966665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215473102	4.135e-06	1.163e-05	4.114e-06	4.156e-06	0.0003	1.49e-06	9.8e-07	6.139e-05	2.539e-05	3.04e-05	0	0	0	1.883e-05	0.0003	0	1.67e-05	1.188e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.138	0.33780	T	1.0	0.90584	D	1.0	0.97372	D	0.000285	0.46274	D	0.000000	0.598194	0.30963	N	2.075	0.57047	M	2.57	0.13552	T	-2.58	0.55662	D	0.322	0.44857	-1.1750	0.00449	T	0.068	0.27947	T	10	0.8509321	0.84271	D	0.013673	0.33248	T	0.308	0.62947	0.804	0.92230	0.214338557667	0.21045	0.7352217176484592	0.73467	0.967919316052	0.73255	0.398050636053	0.24797	T	0.071182	0.35776	T	-0.0277957	0.47737	T	-0.277703	0.47039	T	0.938555061817169	0.60927	D	0.69823	0.30825	T	0.38187575	0.59452	0.27794588	0.53751	0.38187575	0.59452	0.27794588	0.53750	-4.803	0.34627	T	.	.	0.594	0.73696	P	.;.	.;.	4.231570	0.64084	24.7	0.99809455481132725	0.89353	0.87371	0.46890	D	AEFDBI	0.173893	0.30100	N	0.313927797062192	0.56863	3.851797	0.204164188004728	0.50079	3.203667	0.836359596499101	0.24786	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	4.11	0.47350	4.105000	0.57532	8.322000	0.76964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:0.189:0.811:0.0	10.969	0.46644	443	0.79878	Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, 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	.	.	.	.	.	.	.	.	0.05	956.43	33	chr7	139053537	.	G	A	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=1.77;SOR=0.757	GT:AD:DP:GQ:PL	0/1:77,44:121:99:968,0,1837	9	0	1	0
chr7	148383806	148383806	G	A	exonic	CNTNAP2	.	unknown	UNKNOWN	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	0	1472	48	2	0	52	0.0173565	.	.	.	101468	Cortical_dysplasia-focal_epilepsy_syndrome|Inborn_genetic_diseases|not_provided|not_specified	MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0086	0.00539137	0.0086	0.0017	0.0016	0	0.0074	0.0100	0.0112	0.0169	0.0082793	1280	154602	rs138477292	0.0090	0.0090	0.0087	0.0093	0.0168	0.0089	0.0088	0.0161	0.0158	0.0012	0.0023	0.0014	0	0.0086	0.0101	0.0095	0.0078	0.0168	0.0064	0.0064	0.0066	0.0062	0.0161	0.0061	0.0059	0.0133	0.0122	0.0017	0.0340	0.0025	0.0014	0.0002	0.0065	0.0102	0.0098	0.0076	0.0161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.004076	0.008772	0.000000	0.008621	0.012195	0.011364	0.05	779.43	35	chr7	148383806	.	G	A	779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.332;DP=383;ExcessHet=0;FS=3.806;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-1.533;SOR=0.307	GT:AD:DP:GQ:PL	0/1:26,32:58:99:791,0,678	9	0	1	0
chr7	151235355	151235355	C	T	exonic	CHPF2	.	nonsynonymous SNV	CHPF2:NM_019015:exon2:c.C571T:p.R191C,CHPF2:NM_001284295:exon3:c.C547T:p.R183C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0718127914657	.	.	8.25e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs771120675	8.894e-06	8.893e-06	8.169e-06	9.627e-06	2.519e-05	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	0	0	2.519e-05	0	0	8.993e-06	0	2.319e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.008	0.67890	D	0.999	0.90584	D	0.832	0.67021	P	0.000006	0.62929	D	0.104471	1	0.81001	D	2.565	0.75005	M	1.56	0.29602	T	-4.45	0.78553	D	0.696	0.70527	-0.8784	0.49888	T	0.165	0.50193	T	9	0.81862843	0.81082	D	0.071813	0.71368	D	0.222	0.51872	0.54	0.65161	0.631150896671	0.62813	0.8253146068563832	0.82489	0.648742462371	0.58216	0.584003448486	0.50649	T	0.486799	0.81313	T	0.0277747	0.55427	T	-0.182394	0.56301	T	0.973623991012573	0.70172	D	0.927707	0.73352	D	0.22784947	0.45493	0.16850013	0.38815	0.22784947	0.45493	0.16850013	0.38814	-16.062	0.97852	D	.	.	0.436	0.63462	A	.;.	.;.	5.340581	0.89608	31	0.9993859169007564	0.99698	0.97532	0.75363	D	AEFBCI	0.839129	0.75657	D	0.537585492625135	0.69330	5.34154	0.514141433817559	0.68939	5.290007	0.999999998150509	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.43	4.53	0.55009	4.913000	0.63039	6.105000	0.53597	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.155:0.845:0.0:0.0	14.215	0.65332	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2242.43	35	chr7	151235355	.	C	T	2242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=516;ExcessHet=0;FS=5.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.196;SOR=0.792	GT:AD:DP:GQ:PL	0/1:93,93:186:99:2254,0,2081	9	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	0.3	5577.98	367	chr7	152229940	.	A	G	5577.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.129;DP=2706;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=44.55;MQRankSum=0.883;QD=3.72;ReadPosRankSum=0.293;SOR=0.714	GT:AD:DP:GQ:PL	0/1:129,96:225:99:1886,0,4045	4	0	6	0
chr8	10608139	10608139	G	A	exonic	RP1L1	.	stopgain	RP1L1:NM_178857:exon4:c.C5959T:p.Q1987X	Occult macular dystrophy, Autosomal dominant	36	1470	16	0	0	16	0.00541272	.	.	.	413765	Retinitis_pigmentosa_88|Occult_macular_dystrophy|Retinal_dystrophy|Autosomal_recessive_retinitis_pigmentosa|not_provided	MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|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:C0339526|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0020	0.000199681	0.0016	0.0004	0.0021	0	0	0.0021	0.0044	0.0010	0.0013907	215	154602	rs200846354	0.0016	0.0016	0.0016	0.0016	0.0061	0.0016	0.0015	0.0045	0.0039	0.0002	0.0020	0.0083	0	0	0.0061	0.0016	0.0021	0.0014	0.0012	0.0012	0.0014	0.0010	0.0017	0.0010	0.0010	0.0014	0.0013	0.0002	0	0.0015	0.0078	0	0	0.0070	0.0017	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0154329	0.49502	T	0.198271	0.83033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.229082	0.94837	34	0.96607289166009569	0.30430	0.00995	0.03773	N	AEFBI	0.020352	0.00795	N	-0.114308574254207	0.36770	2.129882	-0.560111512649774	0.20537	1.106956	1.17323956392468E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.547309	0.15389	0	0.604944	0.38103	0	.	.	1.24	-0.38	0.11868	0.538000	0.22869	-0.850000	0.07182	0.254000	0.18348	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.2362:0.5281:0.2356	4.244	0.10112	795	0.45444	.	.	.	.	.	.	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	0.004532	0.005051	0.000000	0.000000	0.050000	0.008621	0.006098	0.003788	0.05	1651.43	131	chr8	10608139	.	G	A	1651.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.288;DP=1195;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.723;SOR=0.695	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1663,0,1675	9	0	1	0
chr8	11808615	11808615	C	G	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287750:exon1:c.C98G:p.T33S	.	372	1144	6	0	0	6	0.00261552	.	.	.	2736260	not_provided|FDFT1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0005433	84	154602	rs186055179	0.0048	0.0042	0.0047	0.0048	0.0051	0.0046	0.0046	0.0050	0.0050	0.0007	0.0016	0.0141	0	0.0020	0.0016	0.0051	0.0041	0.0023	0.0027	0.0027	0.0031	0.0024	0.0042	0.0025	0.0024	0.0038	0.0037	0.0005	0	0.0020	0.0167	0	0.0009	0.0034	0.0042	0.0028	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041832626	0.00083	T	.	.	.	.	.	.	.	.	.	0.18973221755270925	0.18891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249275	0.03729	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07554	B	.	.	1.098310	0.14827	11.36	0.7975437410556262	0.12885	0.04790	0.10506	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999209733188	0.74766	0.162408	0.03677	1	0.073863	0.01883	0	0.132232	0.03703	1	0.088244	0.02422	0	0.166268	0.28571	4.02	-1.56	0.08080	-0.286000	0.08433	.	.	0.468000	0.21784	0.000000	0.06391	0.003000	0.18671	0.808000	0.38083	0.162:0.4258:0.1426:0.2696	1.463	0.02256	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	334.43	35	chr8	11808615	.	C	G	334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.156;DP=332;ExcessHet=0;FS=3.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.936;SOR=0.204	GT:AD:DP:GQ:PL	0/1:16,14:30:99:346,0,431	9	0	1	0
chr8	12132741	12132741	G	C	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.C1269G:p.H423Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.558e-05	0	0	0	0	0	0	0.0005	3.84e-05	1	26028	rs769508744	2.873e-05	2.997e-05	1.571e-05	4.188e-05	0.0005	2.165e-05	1.906e-05	0.0004	0.0003	0	0	0	0	0	0	9.379e-07	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.20218	L	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.040748388	0.02670	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	0.014627868227615259	0.01419	.	.	.	.	.	0.033474	0.22927	T	-0.410876	0.01961	T	-0.495907	0.22773	T	.	.	.	0.547145	0.18749	T	0.2647569	0.49543	0.24239036	0.49658	0.2647569	0.49543	0.24239036	0.49657	-3.315	0.13932	T	.	.	0.106	0.19518	B	.	.	-0.375869	0.02304	0.243	0.35662215530350527	0.02251	0.01021	0.03839	N	AEFBI	.	.	.	.	.	.	.	.	.	4.22671077845571E-5	0.03989	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0475315	0.06682	.	.	.	-0.099000	0.10976	-3.780000	0.02542	0.432000	0.20950	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	2270.08	367	chr8	12132741	.	G	C	2270.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.252;DP=2420;ExcessHet=0;FS=1.902;MLEAC=1;MLEAF=0.056;MQ=57.69;MQRankSum=-1.139;QD=13.43;ReadPosRankSum=-0.963;SOR=0.811	GT:AD:DP:GQ:PL	0/1:79,90:169:99:2281,0,2123	8	0	1	1
chr8	20253333	20253333	C	T	exonic	LZTS1	.	nonsynonymous SNV	LZTS1:NM_001362884:exon3:c.G598A:p.V200M,LZTS1:NM_021020:exon3:c.G598A:p.V200M	Esophageal squamous cell carcinoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2858874	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00499393172165	.	.	2.496e-05	0	0	0	0	1.516e-05	0	0.0001	1.94e-05	3	154602	rs762386540	2.121e-05	2.257e-05	1.634e-05	2.613e-05	0.0001	1.52e-05	1.325e-05	7.997e-05	6.236e-05	0	0	0	0.0001	0	0	1.259e-05	0	0.0001	6.568e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.29	0.14996	T	0.238	0.24694	T	0.042	0.28304	B	0.006	0.27960	B	0.003117	0.35419	N	0.304540	0.944277	0.37442	D	1.59	0.40313	L	2.27	0.22270	T	-0.31	0.12099	N	0.125	0.11912	-1.0378	0.17985	T	0.028	0.12147	T	10	0.038592935	0.02289	T	0.004994	0.12598	T	0.031	0.07369	0.115	0.02372	0.248133497653	0.24425	0.20124872710885697	0.20041	0.367320940918	0.38292	0.389323055744	0.23575	T	0.086296	0.37692	T	-0.393026	0.02571	T	-0.565663	0.15848	T	0.0607723631966192	0.07290	T	0.778722	0.41238	T	0.050955128	0.09284	0.0534909	0.09022	0.050955128	0.09284	0.0534909	0.09021	-4.024	0.24162	T	0.09108131174238696	0.05741	0.071	0.06803	B	.;.;.	.;.;.	2.215650	0.28270	17.74	0.96985568627913399	0.31879	0.31805	0.24429	N	AEFDBI	0.286866	0.39915	N	-0.491366999378692	0.22363	1.193588	-0.328091237671929	0.27195	1.507357	0.999979734531007	0.50053	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.93	4.15	0.47978	0.368000	0.20132	1.082000	0.23901	0.599000	0.40250	0.237000	0.24716	0.686000	0.26148	0.932000	0.46971	0.0:0.8431:0.0:0.1569	9.964	0.40883	943	0.12886	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	934.43	38	chr8	20253333	.	C	T	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.211;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.015;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,38:78:99:946,0,972	9	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	243.53	33	chr8	39963621	.	A	G	243.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.434;DP=958;ExcessHet=1.5895;FS=106.457;InbreedingCoeff=-0.2469;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=-0.423;SOR=10.175	GT:AD:DP:GQ:PL	0/1:131,29:160:30:30,0,2426	6	0	4	0
chr8	47727284	47727284	C	T	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352959:exon8:c.C941T:p.P314L,SPIDR:NM_001352960:exon10:c.C851T:p.P284L,SPIDR:NM_001352945:exon13:c.C1700T:p.P567L,SPIDR:NM_001352941:exon14:c.C1910T:p.P637L,SPIDR:NM_001352953:exon14:c.C1493T:p.P498L,SPIDR:NM_001352956:exon14:c.C1493T:p.P498L,SPIDR:NM_001352939:exon15:c.C1934T:p.P645L,SPIDR:NM_001352942:exon15:c.C1769T:p.P590L,SPIDR:NM_001352952:exon15:c.C1493T:p.P498L,SPIDR:NM_001352955:exon15:c.C1493T:p.P498L,SPIDR:NM_001352957:exon15:c.C1493T:p.P498L,SPIDR:NM_001282916:exon16:c.C2216T:p.P739L,SPIDR:NM_001352935:exon16:c.C2216T:p.P739L,SPIDR:NM_001352938:exon16:c.C1934T:p.P645L,SPIDR:NM_001352940:exon16:c.C1934T:p.P645L,SPIDR:NM_001352946:exon16:c.C1676T:p.P559L,SPIDR:NM_001352948:exon16:c.C1676T:p.P559L,SPIDR:NM_001352950:exon16:c.C1934T:p.P645L,SPIDR:NM_001352951:exon16:c.C1676T:p.P559L,SPIDR:NM_001080394:exon17:c.C2426T:p.P809L,SPIDR:NM_001282919:exon17:c.C2246T:p.P749L,SPIDR:NM_001352931:exon17:c.C2426T:p.P809L,SPIDR:NM_001352932:exon17:c.C2306T:p.P769L,SPIDR:NM_001352933:exon17:c.C2246T:p.P749L,SPIDR:NM_001352934:exon17:c.C2426T:p.P809L,SPIDR:NM_001352937:exon17:c.C2246T:p.P749L,SPIDR:NM_001352947:exon17:c.C1676T:p.P559L,SPIDR:NM_001352949:exon18:c.C1769T:p.P590L,SPIDR:NM_001352958:exon19:c.C1178T:p.P393L	.	428	1093	1	0	0	1	0.000457247	.	.	.	736689	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0002	0.00758786	0.0046	0.0002	8.905e-05	0	0.0010	0.0006	0.0046	0.0304	0.003965	613	154602	rs199612363	0.0020	0.0020	0.0013	0.0028	0.0272	0.0020	0.0019	0.0263	0.0260	0.0001	0.0002	0	0.0001	0.0011	0.0010	0.0004	0.0023	0.0272	0.0013	0.0013	0.0009	0.0018	0.0290	0.0012	0.0011	0.0251	0.0236	0.0001	0	0.0003	0	0	0.0016	0	0.0005	0	0.0290	0.581	0.22312	T	0.006	0.72224	D	0.333	0.38987	B	0.042	0.30945	B	0.026362	0.25931	N	0.449261	1	0.08975	N	1.295	0.32453	L	.	.	.	-4.93	0.95336	D	0.291	0.38950	-1.0043	0.28666	T	0.114	0.40559	T	9	0.0048718154	0.00104	T	.	.	.	0.054	0.15330	.	.	0.143124449307	0.13826	0.24004243351475385	0.23918	0.300067500273	0.32371	.	.	.	0.202897	0.56120	T	-0.439955	0.01294	T	-0.383791	0.35277	T	0.0853742363017017	0.10659	T	0.70443	0.32778	T	0.045078773	0.07319	0.09386496	0.22191	0.045078773	0.07318	0.09386496	0.22191	-9.053	0.68038	D	.	.	0.079	0.18663	B	.;.;.;.;.;.	.;.;.;.;.;.	3.117954	0.42087	21.5	0.90126381669951006	0.19406	0.55158	0.29794	D	AEFDBI	0.088301	0.17902	N	-0.231345839894009	0.31854	1.790376	-0.229969089704573	0.30468	1.71573	0.889699909768207	0.25819	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.84	3.13	0.35090	0.875000	0.27729	0.534000	0.19274	-0.798000	0.03190	0.869000	0.30776	0.000000	0.08366	0.484000	0.28656	0.1319:0.6613:0.0:0.2068	6.048	0.18997	624	0.65661	Domain of unknown function DUF4503;.;.;Domain of unknown function DUF4503;Domain of unknown function DUF4503;Domain of unknown function DUF4503	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	2078.12	37	chr8	47727284	.	C	T	2078.12	.	AC=2;AF=0.1;AN=20;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.02;SOR=1.716	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2101,201,0	9	1	0	0
chr8	66051579	66051579	G	A	exonic	DNAJC5B	.	nonsynonymous SNV	DNAJC5B:NM_001349432:exon3:c.G32A:p.R11Q,DNAJC5B:NM_033105:exon3:c.G32A:p.R11Q	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0180698024901	0.0004	0.000399361	0.0011	9.619e-05	0.0005	0.0001	0.0085	0.0009	0.0011	0.0001	0.0008732	135	154602	rs139242175	0.0007	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0005	0.0005	0.0002	0.0003	0	0.0003	0.0058	0.0007	0.0005	0.0005	0.0002	0.0013	0.0013	0.0007	0.0019	0.0006	0.0011	0.0011	0.0004	0.0004	0.0002	0	0.0003	0	0.0002	0.0136	0	0.0006	0.0005	0.0002	0.016	0.51853	D	0.048	0.48594	D	0.076	0.24253	B	0.06	0.26717	B	0.000001	0.84330	D	0.000000	0.999926	0.51308	D	1.35	0.33515	L	-0.68	0.72568	T	-3.43	0.69236	D	0.479	0.51405	-0.7065	0.60125	T	0.263	0.63361	T	10	0.006323993	0.00143	T	0.01807	0.40007	T	0.276	0.59253	.	.	0.848443425011	0.84698	0.6202549662963571	0.61958	0.232855055149	0.25818	0.409178078175	0.26343	T	0.125374	0.45104	T	-0.11221	0.34404	T	-0.00807264	0.69812	D	0.0584363548657262	0.06919	T	0.919108	0.70849	D	0.49091557	0.66558	0.30241546	0.56273	0.49091557	0.66558	0.30241546	0.56272	-5.816	0.44714	T	.	.	0.280	0.51306	B	.;.	.;.	4.443749	0.69020	25.3	0.99919187660994702	0.98654	0.91685	0.54046	D	AEFBI	0.585824	0.58410	D	0.101187153575826	0.46517	2.890952	0.299545562193816	0.55513	3.714274	0.999998574041018	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	5.217000	0.65084	9.964000	0.82816	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	18.007	0.89134	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	1534.12	33	chr8	66051579	.	G	A	1534.12	.	AC=2;AF=0.1;AN=20;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.96;SOR=1.298	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1557,144,0	9	1	0	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	264.77	48	chr8	66493691	.	G	C	264.77	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-2.1;DP=618;ExcessHet=0.7463;FS=390.645;InbreedingCoeff=-0.2495;MLEAC=3;MLEAF=0.167;MQ=59.65;MQRankSum=0;QD=1.18;ReadPosRankSum=1.92;SOR=9.49	GT:AD:DP:GQ:PL	0/1:51,25:76:99:223,0,833	6	0	3	1
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1875	89.52	23	chr8	67299229	.	C	T	89.52	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.553;DP=150;ExcessHet=0.8432;FS=83.804;InbreedingCoeff=-0.3031;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=0.49;SOR=6.271	GT:AD:DP:GQ:PL	0/1:6,5:11:42:42,0,107	5	0	3	2
chr8	70128911	70128911	C	T	exonic	NCOA2	.	nonsynonymous SNV	NCOA2:NM_001321711:exon16:c.G3187A:p.V1063I,NCOA2:NM_001321712:exon16:c.G3187A:p.V1063I,NCOA2:NM_001321713:exon16:c.G2932A:p.V978I,NCOA2:NM_001321703:exon17:c.G3394A:p.V1132I,NCOA2:NM_001321707:exon17:c.G3394A:p.V1132I,NCOA2:NM_006540:exon17:c.G3394A:p.V1132I	.	.	.	.	.	.	.	.	.	.	.	723180	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.00760460723848	0.0024	0.00299521	0.0012	0.0080	0.0029	0.0001	0.0002	0.0004	0.0027	0	0.0009832	152	154602	rs115177449	0.0006	0.0006	0.0007	0.0006	0.0080	0.0006	0.0006	0.0072	0.0069	0.0080	0.0024	0	0.0001	5.623e-05	0.0029	0.0003	0.0017	1.163e-05	0.0027	0.0027	0.0030	0.0023	0.0072	0.0024	0.0024	0.0066	0.0063	0.0072	0	0.0039	0	0	0	0.0034	0.0005	0.0043	0	0.043	0.41364	D	0.262	0.22895	T	0.176	0.28893	B	0.032	0.22131	B	0.000048	0.53742	N	0.166901	0.69918	0.30119	N	0.805	0.20218	L	1.04	0.40218	T	0.26	0.04380	N	0.206	0.22870	-0.9477	0.41364	T	0.072	0.29259	T	10	0.006502062	0.00147	T	0.007605	0.20166	T	0.042	0.11227	.	.	0.297458270211	0.29361	0.07194616362803742	0.07131	0.110045376786	0.12417	0.351100385189	0.18084	T	0.056914	0.30421	T	-0.545359	0.00311	T	-0.551722	0.17161	T	0.0139815933477277	0.00269	T	0.79622	0.43953	T	0.049785756	0.08895	0.054833874	0.09504	0.049785756	0.08895	0.054833874	0.09504	-4.426	0.29907	T	.	.	0.073	0.04806	B	.	.	2.748615	0.36020	20.1	0.99507470229721684	0.68440	0.88894	0.49047	D	AEFBI	0.104581	0.20921	N	-0.102608325971151	0.37278	2.166576	0.0131877885755622	0.40326	2.404869	0.963612355825865	0.28703	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.88	5.0	0.66209	2.960000	0.48853	4.933000	0.46146	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.8018:0.1297:0.0685	10.792	0.45642	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	0	0	1	0	0.007553	0.025253	0.010870	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3135.12	37	chr8	70128911	.	C	T	3135.12	.	AC=2;AF=0.1;AN=20;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.5;SOR=0.976	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3158,330,0	9	1	0	0
chr8	80664894	80664894	G	A	exonic	ZNF704	.	nonsynonymous SNV	ZNF704:NM_001033723:exon6:c.C848T:p.T283M,ZNF704:NM_001367783:exon6:c.C1370T:p.T457M	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0400051280716	.	0.000798722	0.0007	9.61e-05	0.0007	0	0	8.99e-05	0	0.0046	0.0006404	99	154602	rs201218880	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0.0001	0.0004	0	0	0	0.0019	8.903e-05	0.0004	0.0044	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	4.812e-05	0	0.0002	0	0	0	0	0.0001	0	0.0041	0.106	0.29688	T	0.093	0.39799	T	0.999	0.77913	D	0.862	0.61339	P	0.016053	0.28081	N	0.406531	0.999998	0.58761	D	1.87	0.49600	L	-1.71	0.83157	D	-0.75	0.21003	N	0.524	0.55366	0.155	0.85147	D	0.591	0.85360	D	10	0.005846262	0.00131	T	0.040005	0.59133	D	0.359	0.67962	.	.	0.278043722374	0.27408	0.2220069090381585	0.22115	1.37515071505	0.84646	0.578011214733	0.49805	T	0.065232	0.32637	T	-0.292796	0.09358	T	-0.193365	0.55273	T	0.0388424032451896	0.03482	T	0.894511	0.63379	D	0.062421154	0.13036	0.079098515	0.17778	0.062421154	0.13035	0.079098515	0.17778	-4.674	0.33088	T	.	.	0.081	0.08272	B	.	.	3.637155	0.51552	23.1	0.99660534785811494	0.77883	0.97489	0.75080	D	AEFI	0.620191	0.60534	D	0.581690128476075	0.72033	5.742392	0.623162075698933	0.76624	6.525747	0.999999998424505	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	3.628000	0.54000	5.739000	0.49563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.644	0.99572	848	0.35897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2405.43	36	chr8	80664894	.	G	A	2405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.539;DP=554;ExcessHet=0;FS=3.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.353;SOR=0.49	GT:AD:DP:GQ:PL	0/1:127,105:232:99:2417,0,2921	9	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.15	2618.45	35	chr8	97930977	.	C	T	2618.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.945;DP=436;ExcessHet=0.7463;FS=3.526;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.489;SOR=0.957	GT:AD:DP:GQ:PL	0/1:22,33:55:99:846,0,535	7	0	3	0
chr8	98089316	98089316	C	T	exonic	ERICH5	.	nonsynonymous SNV	ERICH5:NM_173549:exon2:c.C299T:p.S100F	.	416	1084	21	1	0	23	0.0104975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0049	0.00319489	0.0043	0.0014	0.0028	0	0.0008	0.0065	0.0044	0.0019	0.0046118	713	154602	rs34144950	0.0061	0.0061	0.0061	0.0062	0.0106	0.0060	0.0060	0.0085	0.0077	0.0008	0.0032	3.826e-05	0	0.0011	0.0106	0.0073	0.0062	0.0017	0.0044	0.0044	0.0049	0.0039	0.0074	0.0042	0.0040	0.0069	0.0067	0.0009	0	0.0067	0.0003	0	0.0008	0.0068	0.0074	0.0052	0.0010	0.042	0.41637	D	0.036	0.52060	D	0.899	0.49514	P	0.667	0.53020	P	0.618651	0.10799	N	0.800473	1	0.08975	N	1.525	0.38595	L	0.79	0.49068	T	-3.78	0.71519	D	0.232	0.26111	-1.0065	0.28004	T	0.115	0.40875	T	10	0.008595943	0.00195	T	.	.	.	0.060	0.17295	.	.	0.332902724076	0.32905	0.035470728247831686	0.03494	0.159704334051	0.18023	.	.	.	0.048359	0.27994	T	-0.538225	0.00343	T	-0.536505	0.18641	T	0.0409072582646112	0.03854	T	0.555844	0.19272	T	0.110806584	0.26188	0.12128935	0.29265	0.110806584	0.26188	0.12128935	0.29265	-5.607	0.42856	T	.	.	0.142	0.31125	B	.	.	2.439666	0.31399	18.73	0.99440510548239747	0.64720	0.10520	0.16004	N	AEFDBI	0.106676	0.21277	N	-0.432944068937169	0.24322	1.312446	-0.593839667217455	0.19652	1.055397	0.014842906693891	0.12645	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.71	2.86	0.32427	1.611000	0.36490	1.097000	0.24034	-0.224000	0.07868	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.1849:0.6369:0.1782:0.0	7.861	0.28672	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.005435	0.000000	0.000000	0.008621	0.006098	0.007576	0.05	957.43	38	chr8	98089316	.	C	T	957.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.514;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.399;SOR=0.734	GT:AD:DP:GQ:PL	0/1:47,35:82:99:969,0,1263	9	0	1	0
chr8	99848882	99848882	C	T	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon55:c.C10124T:p.T3375I,VPS13B:NM_152564:exon55:c.C10049T:p.T3350I	Cohen syndrome, Autosomal recessive	0	1458	62	2	0	66	0.0221328	.	.	.	136163	not_provided|Cohen_syndrome|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0079	0.00439297	0.0081	0.0016	0.0079	0	0.0042	0.0098	0.0077	0.0112	0.0078395	1212	154602	rs138127778	0.0087	0.0088	0.0085	0.0090	0.0113	0.0086	0.0086	0.0107	0.0105	0.0016	0.0070	0.0160	0.0002	0.0035	0.0113	0.0092	0.0086	0.0113	0.0066	0.0066	0.0066	0.0067	0.0097	0.0063	0.0062	0.0090	0.0088	0.0018	0	0.0081	0.0135	0	0.0027	0.0170	0.0097	0.0128	0.0097	0.213	0.19430	T	0.173	0.30143	T	0.001	0.07471	B	0.003	0.08700	B	0.032191	0.25064	N	0.414696	1	0.08975	N	1.275	0.32135	L	-0.43	0.69657	T	-1.61	0.38734	N	0.17	0.18103	-0.9873	0.33273	T	0.131	0.44129	T	10	0.004468918	0.00092	T	.	.	.	0.099	0.28413	.	.	0.597732455086	0.59452	0.23971498585728532	0.23885	0.132304371815	0.14911	0.343923807144	0.17023	T	0.109341	0.42314	T	-0.559271	0.00256	T	-0.565742	0.15842	T	0.00382592993530367	0.00040	T	0.694731	0.30434	T	0.043221936	0.06699	0.05221075	0.08557	0.037599225	0.04849	0.05221075	0.08557	-3.666	0.18818	T	0.5104969432729618	0.58431	0.152	0.33573	B	.;.	.;.	-0.232572	0.02928	0.427	0.8476219787718301	0.15483	0.15431	0.18908	N	AEFGBI	0.070213	0.13929	N	-0.767327187011792	0.14167	0.7035442	-0.742532764754471	0.15905	0.8388741	0.0765538851683846	0.15731	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.73	3.89	0.44098	1.025000	0.29695	-0.040000	0.12681	0.596000	0.33519	0.006000	0.17386	0.001000	0.17328	0.423000	0.27295	0.0:0.6682:0.258:0.0739	10.189	0.42191	467	0.78285	.;.	.	.	.	.	.	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	0.013105	0.010101	0.013587	0.023392	0.000000	0.000000	0.009202	0.007576	0.05	839.43	33	chr8	99848882	.	C	T	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.198;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.19;SOR=0.593	GT:AD:DP:GQ:PL	0/1:28,35:63:99:851,0,636	9	0	1	0
chr8	104381290	104381290	G	A	exonic	DPYS	.	nonsynonymous SNV	DPYS:NM_001385:exon9:c.C1468T:p.R490C	Dihydropyrimidinuria, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	1016982	Dihydropyrimidinase_deficiency|not_provided	MONDO:MONDO:0009111,MedGen:C0342803,OMIM:222748,Orphanet:38874|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.872	0.318447950206	7.7e-05	0.000199681	0.0001	9.61e-05	0	0.0015	0	2.997e-05	0	0	0.00011	17	154602	rs142574766	4.036e-05	4.036e-05	3.948e-05	4.125e-05	0.0008	3.179e-05	2.91e-05	0.0006	0.0005	2.987e-05	0	0	0.0008	0	0.0002	1.889e-05	4.968e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0027	8.165e-05	6.722e-05	0.0016	0.0013	2.407e-05	0	6.536e-05	0	0.0027	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.861	0.61279	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.04	0.26193	L	-4.83	0.98213	D	-7.24	0.94326	D	0.881	0.87917	1.074	0.98713	D	0.955	0.98538	D	10	0.8445761	0.83620	D	0.318448	0.91401	D	0.872	0.96170	.	.	0.991471231101	0.99138	0.8704581923374494	0.87011	0.731652867786	0.62753	0.469240039587	0.34575	T	0.830957	0.95963	D	0.175514	0.71630	D	0.460323	0.93804	D	0.308391312640462	0.25348	T	0.954705	0.82752	D	0.8502306	0.87352	0.78898317	0.87582	0.86008775	0.88094	0.7017103	0.82423	-8.476	0.64270	D	.	.	0.793	0.76943	P	.	.	4.949891	0.81757	27.6	0.99908634149852893	0.97875	0.92577	0.56039	D	AEFDI	0.797304	0.72418	D	0.745621870954521	0.82618	7.807607	0.708900515506891	0.83053	7.922288	0.925307199515103	0.26810	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	4.544000	0.60401	8.557000	0.77551	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.338000	0.25386	0.0:0.0:0.8351:0.1648	12.646	0.56099	581	0.69614	.	.	.	.	.	.	Uncertain significance	0	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	.	.	.	.	.	.	.	.	0.05	720.43	34	chr8	104381290	.	G	A	720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.763;DP=381;ExcessHet=0;FS=3.287;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.559;SOR=1.121	GT:AD:DP:GQ:PL	0/1:35,33:68:99:732,0,730	9	0	1	0
chr8	109579922	109579922	A	G	exonic	SYBU	.	nonsynonymous SNV	SYBU:NM_001330596:exon3:c.T221C:p.L74P,SYBU:NM_001363032:exon3:c.T122C:p.L41P,SYBU:NM_001099746:exon4:c.T254C:p.L85P,SYBU:NM_001099749:exon4:c.T254C:p.L85P,SYBU:NM_001099755:exon4:c.T254C:p.L85P,SYBU:NM_001099756:exon4:c.T602C:p.L201P,SYBU:NM_001099753:exon5:c.T608C:p.L203P,SYBU:NM_001099754:exon5:c.T611C:p.L204P,SYBU:NM_001099743:exon6:c.T608C:p.L203P,SYBU:NM_001099744:exon6:c.T611C:p.L204P,SYBU:NM_001099745:exon6:c.T611C:p.L204P,SYBU:NM_001099747:exon6:c.T608C:p.L203P,SYBU:NM_001099748:exon6:c.T611C:p.L204P,SYBU:NM_001099751:exon6:c.T608C:p.L203P,SYBU:NM_001099752:exon6:c.T611C:p.L204P,SYBU:NM_001099750:exon7:c.T611C:p.L204P,SYBU:NM_017786:exon7:c.T608C:p.L203P	.	436	1058	28	0	0	28	0.0130597	.	.	.	711235	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.333	.	0.0087	0.00539137	0.0089	0.0019	0.0035	0	0.0138	0.0101	0.0211	0.0137	0.0083634	1293	154602	rs112294178	0.0096	0.0096	0.0094	0.0099	0.0151	0.0095	0.0095	0.0144	0.0141	0.0013	0.0034	0.0112	2.519e-05	0.0124	0.0133	0.0099	0.0101	0.0151	0.0074	0.0074	0.0075	0.0073	0.0106	0.0070	0.0069	0.0100	0.0097	0.0018	0	0.0058	0.0130	0	0.0125	0.0136	0.0106	0.0057	0.0096	0.072	0.72154	T	0.11	0.74150	T	0.993	0.65571	D	0.878	0.62312	P	0.069102	0.21627	N	0.524842	0.999999	0.81001	D	2.215	0.62545	M	.	.	.	-1.98	0.81514	N	0.461	0.49965	-0.6813	0.61312	T	0.215	0.57613	T	9	0.008069485	0.00183	T	.	.	.	0.333	0.65522	.	.	0.345405024496	0.34151	0.5761431204883165	0.57543	0.604454540388	0.55382	0.408706814051	0.26277	T	0.028846	0.41048	T	-0.319245	0.06960	T	-0.219674	0.52768	T	0.0290367097487995	0.01842	T	0.773323	0.50261	T	0.5161976	0.68040	0.39056274	0.63848	0.5161976	0.68041	0.39056274	0.63848	-2.81	0.09294	T	.	.	0.103	0.32992	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.500765	0.48979	22.7	0.99841563174162007	0.92229	0.60516	0.31218	D	AEFDBCI	0.412647	0.48264	N	0.408125363973268	0.61868	4.393862	0.383551864109284	0.60550	4.243852	0.999250851627694	0.38906	0.615465	0.37627	0	0.653731	0.59785	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.82	4.67	0.58089	2.584000	0.45768	9.272000	0.79644	0.756000	0.94297	0.984000	0.35821	1.000000	0.68203	0.987000	0.62547	0.7164:0.0:0.1478:0.1358	5.083	0.14002	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	chr8:110592151	Likely benign	0	0	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	0.007553	0.005051	0.004076	0.011696	0.000000	0.008621	0.012195	0.022727	0.05	1319.43	33	chr8	109579922	.	A	G	1319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.006;DP=427;ExcessHet=0;FS=3.397;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.46;SOR=1.012	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1331,0,1551	9	0	1	0
chr8	123812551	123812551	G	T	exonic	FAM91A1	.	nonsynonymous SNV	FAM91A1:NM_001317917:exon24:c.G1638T:p.E546D,FAM91A1:NM_144963:exon24:c.G2364T:p.E788D	.	437	1077	7	1	0	9	0.00416089	.	.	.	2828487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	.	.	0.00199681	0.0008	0	0	0	0	3.049e-05	0.0023	0.0064	0.0006662	103	154602	rs559570553	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0054	0.0052	3.123e-05	0	0	2.554e-05	0	0.0011	1.176e-05	0.0004	0.0058	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	0.0001	0	0	0	0.0034	4.41e-05	0	0.0056	0.813	0.03013	T	0.673	0.06245	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.085531	0.936837	0.37169	D	0	0.06538	N	1.47	0.31987	T	-0.02	0.07299	N	0.057	0.02861	-1.0542	0.13251	T	0.028	0.11971	T	10	0.00415954	0.00082	T	.	.	.	0.109	0.30843	0.21	0.12781	0.043077524339	0.03247	0.2892239892632202	0.28835	0.405078446708	0.41395	0.377963334322	0.21966	T	0.051914	0.29014	T	-0.564537	0.00238	T	-0.581499	0.14411	T	0.0440003081627695	0.04421	T	0.689031	0.29821	T	0.093532726	0.21971	0.08083919	0.18322	0.093532726	0.21970	0.08083919	0.18321	-2.506	0.05822	T	.	.	0.060	0.00979	B	.	.	0.658592	0.10271	7.005	0.95230278743824681	0.26460	0.89888	0.50651	D	AEFBI	0.156875	0.28230	N	-0.64946134204889	0.17476	0.8996107	-0.450031101368281	0.23548	1.284729	0.537883968128475	0.21229	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.89	4.1	0.47196	0.437000	0.21261	3.055000	0.36136	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.1385:0.0:0.7261:0.1354	8.225	0.30722	940	0.13648	FAM91, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000611	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004202	0.05	299.43	34	chr8	123812551	.	G	T	299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.325;DP=334;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1.12;SOR=0.941	GT:AD:DP:GQ:PL	0/1:22,12:34:99:311,0,601	9	0	1	0
chr8	124045840	124045840	T	G	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon21:c.T2663G:p.V888G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.0105048186152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.13436	T	0.35	0.17478	T	0.0	0.02946	B	0.001	0.04355	B	0.200978	0.16601	U	0.566893	0.70176	0.33429	D	-0.595	0.02246	N	-0.42	0.69536	T	-0.96	0.25551	N	0.164	0.17278	-1.0232	0.22671	T	0.098	0.36754	T	10	0.07346639	0.11102	T	0.010505	0.27109	T	0.141	0.37795	0.525	0.62967	0.0551355673512	0.04727	0.26712817167235964	0.26625	0.140838786174	0.15890	0.26891887188	0.06001	T	0.025764	0.19202	T	-0.181252	0.23550	T	-0.498132	0.22542	T	0.422025561332703	0.29765	T	0.374563	0.08910	T	0.06819888	0.14838	0.05282756	0.08778	0.06819888	0.14838	0.05282756	0.08778	-6.816	0.52678	T	.	.	0.068	0.02894	B	.	.	0.996850	0.13748	10.30	0.65750476509912548	0.07861	0.12228	0.17139	N	AEFDGBHI	0.108517	0.21586	N	-1.10076587299035	0.06630	0.3057581	-0.992041911284775	0.09963	0.4988435	0.997888842619616	0.36150	0.549168	0.22868	0	0.610034	0.51514	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.62	3.2	0.35826	0.889000	0.27917	2.875000	0.35292	-0.115000	0.14600	0.000000	0.06391	0.998000	0.33993	0.046000	0.14843	0.497:0.1391:0.0758:0.2882	2.002	0.03258	698	0.58074	C2 domain|C2 domain|C2 domain|Ferlin, fourth 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	.	.	.	.	.	.	.	.	0.05	746.43	35	chr8	124045840	.	T	G	746.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.932;DP=394;ExcessHet=0;FS=5.366;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.862;SOR=0.648	GT:AD:DP:GQ:PL	0/1:52,37:89:99:758,0,1330	9	0	1	0
chr8	133133498	133133498	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon47:c.C8026T:p.R2676W	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	700410	not_specified|not_provided|Iodotyrosyl_coupling_defect	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.0158653751844	0.0006	0.000798722	0.0008	9.61e-05	0.0013	0.0001	0.0002	0.0005	0.0022	0.0028	0.0007956	123	154602	rs114613744	0.0006	0.0006	0.0005	0.0007	0.0031	0.0005	0.0005	0.0028	0.0027	0.0001	0.0012	3.826e-05	7.557e-05	7.488e-05	0.0012	0.0004	0.0005	0.0031	0.0004	0.0004	0.0005	0.0004	0.0019	0.0003	0.0003	0.0010	0.0007	9.621e-05	0	0.0010	0	0.0004	0	0	0.0005	0	0.0019	0.055	0.44358	T	0.0	0.92824	D	0.691	0.41647	P	0.175	0.35598	B	0.116270	0.19200	N	0.477631	1	0.08975	N	1.645	0.42016	L	-0.29	0.67712	T	-3.13	0.84246	D	0.39	0.43126	-0.9579	0.39571	T	0.101	0.37493	T	10	0.009665489	0.00218	T	0.015865	0.36838	T	0.168	0.42943	.	.	0.740405641788	0.73808	0.6709331718413303	0.67031	0.0903394030496	0.10192	0.39365708828	0.24183	T	0.427259	0.77679	T	-0.379021	0.03160	T	-0.32214	0.42341	T	0.043749031649968	0.04375	T	0.831217	0.50550	T	0.18792328	0.40268	0.12352939	0.29786	0.21125221	0.43445	0.110208	0.26569	-5.883	0.45290	T	0.570815889595398	0.63800	0.124	0.45011	B	.;.;.	.;.;.	1.876688	0.23837	16.17	0.98884173440654877	0.47877	0.02195	0.06412	N	AEFBI	0.165789	0.29231	N	-0.639711067161978	0.17761	0.9166406	-0.802929436460108	0.14425	0.7536125	0.994950256203476	0.33880	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.84	-2.71	0.05633	0.500000	0.22270	-0.087000	0.12105	0.599000	0.40250	0.096000	0.22710	0.000000	0.08366	0.822000	0.38733	0.3495:0.5476:0.0:0.1029	9.469	0.37993	642	0.63909	Carboxylesterase, type B;Carboxylesterase, type B;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	1375.43	35	chr8	133133498	.	C	T	1375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-1.955;SOR=0.721	GT:AD:DP:GQ:PL	0/1:114,65:179:99:1387,0,2605	9	0	1	0
chr8	143570623	143570623	G	A	exonic	MROH6	.	nonsynonymous SNV	MROH6:NM_001100878:exon5:c.C755T:p.S252L	.	.	.	.	.	.	.	.	.	.	.	2342715	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0421765067171	.	.	6.281e-05	0.0001	0	0	0	8.119e-05	0	6.674e-05	4.53e-05	7	154602	rs756571004	3.732e-05	3.762e-05	3.852e-05	3.61e-05	0.0005	2.923e-05	2.619e-05	0.0001	7.544e-05	0	2.24e-05	0	0	0	0.0005	4.139e-05	4.982e-05	1.161e-05	3.285e-05	3.283e-05	5.138e-05	1.345e-05	4.826e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0	0.065	0.63226	T	0.0	0.92824	D	0.999	0.90584	D	0.97	0.73820	D	.	.	.	.	0.979272	0.25193	N	1.935	0.51832	L	1.58	0.29085	T	-3.08	0.63323	D	0.57	0.59308	-1.0425	0.16562	T	0.136	0.45203	T	9	0.35766158	0.52476	T	0.042177	0.60324	D	0.203	0.48915	0.495	0.58363	0.21737058555	0.21362	0.2325196065791723	0.23166	0.269621044273	0.29486	0.719685912132	0.70001	T	0.059962	0.31257	T	-0.188305	0.22507	T	-0.321727	0.42386	T	0.341483503437241	0.26682	T	.	.	.	0.18186983	0.39378	0.20274615	0.44318	0.18186983	0.39377	0.20274615	0.44317	-6.927	0.53499	T	.	.	0.202	0.64302	B	.;.	.;.	4.587234	0.72525	25.8	0.99920312605079697	0.98721	0.50188	0.28605	D	AEFDGBCI	0.267634	0.38429	N	0.344430944348708	0.58446	4.016902	0.298718241714399	0.55466	3.710	0.999999999989585	0.74766	0.676563	0.55306	0	0.541168	0.11318	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.82	4.82	0.61641	2.365000	0.43849	.	.	0.672000	0.70159	0.986000	0.36153	1.000000	0.68203	0.731000	0.35132	0.0:0.0:1.0:0.0	15.423	0.74755	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	0.001512	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	625.43	41	chr8	143570623	.	G	A	625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.406;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=0.671;SOR=0.674	GT:AD:DP:GQ:PL	0/1:17,23:40:99:637,0,447	9	0	1	0
chr8	143650149	143650149	A	G	exonic	ZNF623	.	nonsynonymous SNV	ZNF623:NM_014789:exon1:c.A277G:p.T93A,ZNF623:NM_001082480:exon2:c.A157G:p.T53A,ZNF623:NM_001261843:exon2:c.A157G:p.T53A	.	414	1089	18	1	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0057502112798	0.0020	0.00159744	0.0036	0.0005	0.0012	0	0.0062	0.0039	0.0011	0.0067	0.0034928	540	154602	rs141901810	0.0048	0.0048	0.0047	0.0049	0.0092	0.0047	0.0047	0.0072	0.0070	0.0006	0.0017	0.0002	2.519e-05	0.0044	0.0092	0.0051	0.0042	0.0077	0.0028	0.0028	0.0028	0.0028	0.0043	0.0026	0.0025	0.0039	0.0038	0.0005	0.0011	0.0024	0.0003	0	0.0046	0	0.0043	0.0019	0.0043	0.062	0.37966	T	0.026	0.57587	D	.	.	.	.	.	.	.	.	.	.	0.994708	0.23461	N	.	.	.	2.47	0.14783	T	-0.44	0.15178	N	0.044	0.02559	-0.9976	0.30590	T	0.032	0.13592	T	9	0.003913492	0.00075	T	0.00575	0.14922	T	0.080	0.23350	.	.	0.332646915603	0.32870	0.048393935203371874	0.04782	0.274352490652	0.29928	0.275649279356	0.06894	T	0.009832	0.08919	T	-0.687114	0.00044	T	-0.755623	0.03272	T	0.00154676861957796	0.00016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04041	B	.;.;.	.;.;.	0.394799	0.07661	4.332	0.94362907156118903	0.24721	0.03267	0.08303	N	AEFBCI	0.117611	0.23033	N	-0.770492492523635	0.14084	0.698707	-0.804064001623287	0.14397	0.7520479	0.0636998290362513	0.15304	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.35	-1.26	0.08892	0.167000	0.16419	.	.	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.452000	0.27939	0.6286:0.1525:0.2189:0.0	5.246	0.14813	936	0.14734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.021341	0.015152	0.1	3057.14	37	chr8	143650149	.	A	G	3057.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.966;DP=663;ExcessHet=0.2348;FS=1.37;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.69;SOR=0.597	GT:AD:DP:GQ:PL	0/1:100,71:171:99:1572,0,2461	8	0	2	0
chr8	143859141	143859141	T	-	exonic	EPPK1	.	frameshift deletion	EPPK1:NM_031308:exon2:c.14113delA:p.T4705Pfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	54.41	7	chr8	143859140	.	GT	G	54.41	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=120;ExcessHet=0;FS=0;InbreedingCoeff=-0.0542;MLEAC=1;MLEAF=0.05;MQ=39.25;MQRankSum=0;QD=6.8;ReadPosRankSum=-0.992;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:143859140_GT_G:66,0,246:143859140	9	0	1	0
chr8	143868161	143868161	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G5093A:p.R1698H	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0301147713172	8e-05	0.00159744	0.0005	0.0002	8.69e-05	0	0	3.046e-05	0.0011	0.0033	0.0004528	70	154602	rs375880231	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	5.974e-05	0	0	7.557e-05	0	0.0003	2.158e-05	0.0004	0.0031	0.0003	0.0003	0.0001	0.0004	0.0056	0.0002	0.0002	0.0039	0.0034	0.0002	0	0	0	0.0002	0	0	5.879e-05	0	0.0056	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.762364	0.34053	D	3.22	0.89398	M	.	.	.	.	.	.	0.146	0.15888	0.533	0.91006	D	0.656	0.88019	D	9	0.0101315975	0.00227	T	0.030115	0.52495	D	.	.	.	.	0.710744704529	0.70821	0.3741353890439798	0.37327	.	.	0.414497375488	0.27079	T	0.201658	0.55960	T	-0.301257	0.08543	T	-0.207932	0.53893	T	0.141785751764003	0.16428	T	0.936406	0.76145	D	0.20420343	0.42522	0.18565188	0.41691	0.20420343	0.42522	0.18565188	0.41690	-7.116	0.54875	T	.	.	0.403	0.59722	A	.;.	.;.	4.515711	0.70752	25.6	0.99092996928053434	0.52272	0.92287	0.55365	D	AEFGBI	0.361025	0.45079	N	0.547252821898216	0.69914	5.425343	0.441874054783854	0.64196	4.669364	0.999999976035141	0.74766	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.84	4.84	0.62125	3.236000	0.51035	.	.	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.084000	0.17470	0.0:1.0:0.0:0.0	15.472	0.75180	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	.	.	.	.	.	.	.	.	0.05	3164.43	75	chr8	143868161	.	C	T	3164.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=947;ExcessHet=0;FS=3.266;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.32;MQRankSum=0.785;QD=11.34;ReadPosRankSum=1.25;SOR=0.741	GT:AD:DP:GQ:PL	0/1:152,127:279:99:3176,0,3695	9	0	1	0
chr8	144515784	144515784	G	C	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon6:c.C1238G:p.A413G	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	751036	Inborn_genetic_diseases|Hereditary_cancer-predisposing_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	0.00376231261731	.	0.000599042	0.0009	0	0.0003	0	0	0.0004	0	0.0050	0.0007115	110	154602	rs560681030	0.0005	0.0005	0.0003	0.0007	0.0052	0.0005	0.0004	0.0048	0.0047	5.976e-05	0.0004	0.0015	2.52e-05	0	0.0021	0.0001	0.0007	0.0052	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	2.405e-05	0	0.0003	0.0009	0	0	0	0.0002	0	0.0039	.	.	.	0.032	0.55759	D	0.791	0.44643	P	0.434	0.45506	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.18103	.	.	.	.	.	.	.	0.0048629344	0.00104	T	0.003762	0.08744	T	.	.	.	.	0.411799315854	0.40795	0.46254533390117736	0.46173	.	.	0.234652489424	0.02330	T	0.081395	0.70415	T	-0.344232	0.05100	T	-0.266151	0.48209	T	.	.	.	0.668433	0.27879	T	0.07137055	0.15795	0.248593	0.50413	0.08211168	0.18901	0.21163541	0.45599	-9.872	0.73142	D	0.3019037339231921	0.39931	0.101	0.20702	B	.;.	.;.	1.849762	0.23498	16.04	0.57079378397280234	0.05690	0.20774	0.21164	N	AEFGBCI	0.092193	0.18668	N	.	.	.	.	.	.	0.999999041765836	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.330827	0.05736	0	.	.	5.46	2.56	0.29842	0.405000	0.20738	2.817000	0.34941	0.676000	0.76740	0.110000	0.22992	0.998000	0.33993	0.027000	0.12703	0.0803:0.1426:0.6295:0.1476	5.344	0.15305	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002016	0.000000	0.001359	0.002941	0.000000	0.000000	0.003049	0.003788	0.05	3853.43	34	chr8	144515784	.	G	C	3853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.423;DP=893;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=-0.692;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,100:211:99:0|1:144515784_G_C:3865,0,4297:144515784	9	0	1	0
chr8	144515785	144515785	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon6:c.G1237A:p.A413T	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	692466	Hereditary_cancer-predisposing_syndrome|not_provided|Baller-Gerold_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	0.00648854851518	.	0.000599042	0.0009	0	0.0003	0	0	0.0004	0	0.0050	0.0007115	110	154602	rs531310005	0.0005	0.0005	0.0003	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	5.976e-05	0.0004	0.0015	2.52e-05	0	0.0021	0.0001	0.0007	0.0052	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	2.407e-05	0	0.0003	0.0009	0	0	0	0.0002	0	0.0039	.	.	.	0.013	0.65728	D	0.93	0.51791	P	0.558	0.49494	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.11912	.	.	.	.	.	.	.	0.0050106645	0.00108	T	0.006489	0.17100	T	.	.	.	.	0.401612077098	0.39776	0.5184851900649258	0.51771	.	.	0.235469758511	0.02397	T	0.069059	0.61391	T	-0.342859	0.05193	T	-0.264179	0.48407	T	.	.	.	0.712529	0.32570	T	0.024286142	0.01246	0.150959	0.35580	0.027875818	0.02041	0.12430759	0.29964	-7.222	0.55639	T	0.5196322605130426	0.59211	0.087	0.11414	B	.;.	.;.	1.664343	0.21222	15.11	0.6261023998070181	0.07007	0.54679	0.29675	D	AEFGBCI	0.120607	0.23487	N	.	.	.	.	.	.	0.999999841978051	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.330827	0.05736	0	.	.	5.46	3.65	0.40985	1.044000	0.29939	1.190000	0.24759	0.599000	0.40250	0.359000	0.25834	0.999000	0.35428	0.029000	0.12982	0.1557:0.7617:0.0:0.0826	8.328	0.31330	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002520	0.000000	0.001359	0.002941	0.000000	0.008772	0.003049	0.003788	0.05	3853.43	34	chr8	144515785	.	C	T	3853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=-0.615;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,100:211:99:0|1:144515784_G_C:3865,0,4297:144515784	9	0	1	0
chr9	4662598	4662598	G	C	exonic	PLPP6	.	nonsynonymous SNV	PLPP6:NM_203453:exon1:c.G223C:p.A75P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00896262609756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.22400	T	0.299	0.20422	T	0.001	0.07471	B	0.002	0.06944	B	0.116802	0.19179	U	0.472459	0.999466	0.21151	N	.	.	.	2.45	0.15028	T	-0.24	0.10833	N	0.094	0.07398	-1.0271	0.21396	T	0.023	0.09604	T	10	0.06678963	0.09212	T	0.008963	0.23607	T	0.050	0.13987	0.144	0.04746	0.0934897674506	0.08844	0.3951482662556802	0.39429	0.562027180475	0.52696	0.597203969955	0.52509	T	5.25E-4	0.00201	T	-0.17783	0.24059	T	-0.493217	0.23053	T	0.12500074812326	0.14912	T	0.426357	0.11459	T	0.12115092	0.28495	0.2637952	0.52191	0.12115092	0.28495	0.2637952	0.52190	-4.326	0.28540	T	.	.	0.084	0.09917	B	.	.	1.585780	0.20285	14.68	0.97342694362936844	0.33481	0.17677	0.19940	N	AEFDGBHCI	0.256592	0.37548	N	-0.774192015374447	0.13985	0.6930506	-0.748031120594603	0.15770	0.8310772	0.999999999998791	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.6	2.67	0.30756	0.361000	0.20003	1.331000	0.25669	0.675000	0.71128	0.000000	0.06391	0.082000	0.22400	0.283000	0.24091	0.0961:0.1667:0.5659:0.1714	3.430	0.06997	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	602.43	35	chr9	4662598	.	G	C	602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=338;ExcessHet=0;FS=2.824;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.54;SOR=0.292	GT:AD:DP:GQ:PL	0/1:19,25:44:99:614,0,336	9	0	1	0
chr9	5769326	5769326	A	G	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001135920:exon22:c.A3494G:p.Y1165C	.	421	1091	10	0	0	10	0.00456204	.	.	.	3192615	RIC1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0241366048148	.	0.000199681	0.0008	0.0001	0.0007	0	0	0.0003	0.0023	0.0040	0.0006404	99	154602	rs144924840	0.0003	0.0003	0.0002	0.0005	0.0042	0.0003	0.0003	0.0029	0.0028	2.988e-05	0.0009	0.0023	0	0	0.0042	5.937e-05	0.0006	0.0032	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	4.81e-05	0	0.0009	0.0026	0	0	0	8.82e-05	0	0.0029	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.36	0.13035	N	0.051	0.02272	-0.9893	0.32778	T	0.056	0.23488	T	7	0.00399065	0.00077	T	0.024137	0.47124	T	0.040	0.10527	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.69249	0.00040	T	-0.770227	0.02761	T	0.00663872989464111	0.00074	T	0.285671	0.05095	T	.	.	.	.	.	.	.	.	-2.934	0.09487	T	.	.	0.076	0.06024	B	.	.	-0.144545	0.03384	0.607	0.28093881451127017	0.01426	0.00660	0.02859	N	AEFBI	0.035325	0.04528	N	-1.78499845511997	0.00583	0.02511218	-1.93600907570605	0.00415	0.01834508	0.999999997349858	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	4.91	-9.82	0.00403	-1.344000	0.02746	.	.	-1.274000	0.01277	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.5141:0.2711:0.1285:0.0863	3.569	0.07461	457	0.78953	.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	247.43	33	chr9	5769326	.	A	G	247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.033;DP=347;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.19;ReadPosRankSum=-1.521;SOR=0.941	GT:AD:DP:GQ:PL	0/1:28,12:40:99:259,0,746	9	0	1	0
chr9	20414343	20414345	CTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.492_494del:p.S187del,MLLT3:NM_004529:exon5:c.501_503del:p.S190del	.	22	1498	2	0	0	2	0.000667111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1038	.	0.0001	0	0	0.0001	0	0.0001	0	0.0003	6.5e-06	1	154602	rs767180736	0.0012	0.0026	0.0011	0.0013	0.0042	0.0012	0.0012	0.0037	0.0035	0.0023	0.0017	0.0051	0.0042	0.0021	0.0018	0.0009	0.0019	0.0014	0.0042	0.0042	0.0044	0.0040	0.0065	0.0039	0.0038	0.0059	0.0056	0.0065	0	0.0038	0.0081	0.0041	0.0011	0.0071	0.0032	0.0048	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	893.39	34	chr9	20414342	.	GCTA	G	893.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.116;DP=385;ExcessHet=0;FS=3.831;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-1.331;SOR=0.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,26:56:99:0|1:20414342_GCTA_G:905,0,1115:20414342	9	0	1	0
chr9	20414370	20414378	CTGCTGCTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.459_467del:p.S185_S187del,MLLT3:NM_004529:exon5:c.468_476del:p.S188_S190del	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.869e-05	0	0	0	0	3.467e-05	0	0	6.5e-06	1	154602	rs771319563	8.192e-05	0.0002	6.985e-05	9.411e-05	0.0002	6.978e-05	6.527e-05	9.778e-05	6.969e-05	0.0002	4.494e-05	3.84e-05	0.0001	0.0003	0	7.21e-05	1.668e-05	9.322e-05	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0	0.0002	0.0004	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	806.39	34	chr9	20414369	.	GCTGCTGCTA	G	806.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.93;DP=385;ExcessHet=0;FS=5.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.955;SOR=0.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,24:54:99:0|1:20414342_GCTA_G:818,0,1108:20414342	9	0	1	0
chr9	20414378	20414378	A	0	exonic	MLLT3	.	.	.	.	1	184	35	2	4	43	0.0958231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2596.25	34	chr9	20414378	.	A	*	2596.25	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=413;ExcessHet=2.8389;FS=1.097;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.054;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,24:54:99:0|1:20414342_GCTA_G:818,0,1108:20414342	9	0	1	0
chr9	33575200	33575200	C	A	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon20:c.C3305A:p.P1102H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0060	0.0007	0.0008	0.0020	0.0006	0.0006	0.0016	0.0015	0.0020	0	0.0005	0	0	0.0006	0	0.0002	0.0010	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	.	.	.	.	.	.	.	.	0.1429	37.36	1	chr9	33575200	.	C	A	37.36	.	AC=2;AF=0.143;AN=14;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=50.99;QD=18.68;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr9	33575254	33575254	C	T	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon20:c.C3359T:p.S1120F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375242583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0084	0.0007	0.0008	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0	0.0004	0.0003	0	0.0005	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	36.24	3	chr9	33575254	.	C	T	36.24	.	AC=2;AF=0.143;AN=14;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=50.99;QD=18.12;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr9	34251476	34251476	A	G	exonic	UBAP1	.	nonsynonymous SNV	UBAP1:NM_001171201:exon6:c.A1645G:p.N549D,UBAP1:NM_001171202:exon6:c.A1561G:p.N521D,UBAP1:NM_016525:exon7:c.A1453G:p.N485D,UBAP1:NM_001171203:exon8:c.A1453G:p.N485D,UBAP1:NM_001171204:exon8:c.A1453G:p.N485D	.	435	1086	1	0	0	1	0.000460193	.	.	.	2828847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.218	0.0193239535541	.	0.000599042	0.0004	9.639e-05	0	0	0	0	0	0.0028	0.0003299	51	154602	rs556099212	0.0002	0.0002	8.984e-05	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	2.987e-05	0	0	0	0	0	0	8.279e-05	0.0031	0.0001	0.0001	5.139e-05	0.0002	0.0037	8.659e-05	7.252e-05	0.0024	0.0020	2.406e-05	0	0	0	0.0002	0	0	0	0	0.0037	0.076	0.91255	T	0.024	0.56640	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	0.81	0.48460	T	-1.42	0.43334	N	0.566	0.61002	-0.5609	0.66369	T	0.289	0.66036	T	10	0.014995098	0.00315	T	0.019324	0.41651	T	0.218	0.51265	0.314	0.28935	0.353785824208	0.34994	0.33639924300072716	0.33552	.	.	0.834044098854	0.87183	D	0.149052	0.48789	T	-0.327717	0.06285	T	-0.247823	0.50032	T	0.163017425427807	0.18092	T	0.824218	0.48580	T	0.5057648	0.67432	0.49321252	0.70687	0.5057648	0.67433	0.49321252	0.70687	-7.722	0.59161	D	.	.	0.151	0.36574	B	.;.;.;.;.	.;.;.;.;.	4.709678	0.75645	26.4	0.99754275478673504	0.84537	0.97390	0.74445	D	AEFBCI	0.938912	0.93879	D	0.763235638969431	0.83765	8.103638	0.776225973334792	0.88097	9.455806	0.999999999999838	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	8.947000	0.92735	9.392000	0.80586	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.155	0.81470	293	0.88320	.;Ubiquitin-associated domain;.;Ubiquitin-associated domain;Ubiquitin-associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1029.43	36	chr9	34251476	.	A	G	1029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.229;DP=430;ExcessHet=0;FS=2.384;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=1.06;SOR=0.487	GT:AD:DP:GQ:PL	0/1:67,52:119:99:1041,0,1490	9	0	1	0
chr9	34726528	34726528	T	C	exonic	FAM205A	.	nonsynonymous SNV	FAM205A:NM_001141917:exon4:c.A712G:p.T238A	.	424	1097	1	0	0	1	0.000455581	.	.	.	3326544	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.00604398013769	.	.	0.0002	0	0	0	0	0	0	0.0006	3.23e-05	5	154602	rs764847312	7.788e-05	7.456e-05	3.666e-05	0.0001	0.0013	6.596e-05	6.134e-05	0.0011	0.0010	0	0	0	0	0	0	0	0.0001	0.0013	3.945e-05	3.94e-05	2.57e-05	5.384e-05	0.0012	1.716e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.054	0.38633	T	0.329	0.18617	T	0.0	0.02946	B	0.001	0.04355	B	0.000125	0.00470	N	728.057000	1	0.08975	N	1.04	0.26193	L	1.95	0.22474	T	-0.15	0.09297	N	0.05	0.02179	-1.0315	0.19970	T	0.029	0.12365	T	10	0.010376424	0.00231	T	0.006044	0.15787	T	0.010	0.01040	0.075	0.00517	0.0138822411134	0.00435	0.0565126623422497	0.05592	.	.	0.336626529694	0.15932	T	0.007316	0.06733	T	-0.648299	0.00074	T	-0.754454	0.03315	T	0.0719499998625385	0.08922	T	0.128487	0.01008	T	0.033940427	0.03713	0.041004382	0.04563	0.033940427	0.03713	0.041004382	0.04563	-3.295	0.13673	T	.	.	0.088	0.11845	B	.	.	0.437334	0.08075	4.801	0.24613991951690209	0.01097	0.00707	0.02997	N	AEFBI	0.019001	0.00622	N	-1.45112467301634	0.02207	0.09722664	-1.5148614935768	0.02230	0.1022205	0.239255761967438	0.18552	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.85	-3.47	0.04452	-0.618000	0.05674	-4.187000	0.02293	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4115:0.169:0.4195	5.195	0.14556	458	0.78890	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1479.43	132	chr9	34726528	.	T	C	1479.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.29;DP=794;ExcessHet=0;FS=7.641;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.61;MQRankSum=-1.15;QD=13.96;ReadPosRankSum=-0.098;SOR=1.39	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1491,0,1603	9	0	1	0
chr9	35106372	35106372	G	T	exonic	FAM214B	.	nonsynonymous SNV	FAM214B:NM_001317991:exon6:c.C1098A:p.H366Q,FAM214B:NM_025182:exon6:c.C1098A:p.H366Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00247845623849	.	0.000798722	0.0006	0	0	0	0	0	0	0.0044	0.0005045	78	154602	rs375896383	0.0003	0.0003	0.0001	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	0	0	0	0	0	0	2.698e-06	0.0002	0.0050	0.0001	0.0001	6.424e-05	0.0002	0.0037	7.572e-05	6.277e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.714	0.03996	T	0.721	0.05327	T	0.0	0.02946	B	0.001	0.04355	B	0.000377	0.45194	N	0.266582	0.776638	0.34216	D	-1.735	0.00332	N	.	.	.	-0.46	0.14978	N	0.087	0.16447	-1.0129	0.26007	T	0.073	0.29643	T	9	0.00564602	0.00125	T	0.002478	0.04925	T	0.082	0.23913	0.176	0.08257	0.0806252709748	0.07271	0.28408984465254067	0.28321	0.22207748143	0.24744	0.506524026394	0.39737	T	0.007309	0.06724	T	-0.553682	0.00277	T	-0.567286	0.15699	T	0.047731001463277	0.05096	T	0.536546	0.18022	T	0.077372424	0.17556	0.085461676	0.19735	0.077372424	0.17555	0.085461676	0.19735	-3.664	0.18788	T	.	.	0.097	0.25817	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.590910	0.33606	19.39	0.89561245236850373	0.18902	0.88565	0.48552	D	AEFDBI	0.308357	0.41497	N	-0.424193123546793	0.24624	1.330879	-0.185873972854565	0.32054	1.819941	0.999367833473846	0.39301	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.38	4.47	0.53770	1.237000	0.32298	4.520000	0.43683	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.3883:0.6117:0.0	14.873	0.70108	144	0.94257	.;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1702.43	38	chr9	35106372	.	G	T	1702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.488;SOR=0.732	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1714,0,1722	9	0	1	0
chr9	35399712	35399712	G	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371188:exon26:c.G2962A:p.A988T,UNC13B:NM_001371187:exon28:c.G5212A:p.A1738T,UNC13B:NM_001330653:exon35:c.G4072A:p.A1358T,UNC13B:NM_001371186:exon35:c.G4069A:p.A1357T,UNC13B:NM_006377:exon35:c.G4072A:p.A1358T,UNC13B:NM_001371189:exon36:c.G12319A:p.A4107T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.030051405248	.	0.000998403	0.0006	0	0	0	0	0	0	0.0047	0.0005433	84	154602	rs369287210	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	0	0	0	0	0	0.0002	1.799e-05	0.0003	0.0052	0.0002	0.0002	7.717e-05	0.0003	0.0048	0.0001	9.706e-05	0.0033	0.0028	2.41e-05	0	0	0	0	0	0	1.471e-05	0	0.0048	0.003	0.68238	D	0.004	0.74150	D	0.99	0.63424	D	0.796	0.58006	P	0.000001	0.84330	D	0.094982	1	0.81001	D	2.24	0.63355	M	-0.94	0.75325	T	-2.94	0.61435	D	0.801	0.82761	0.051	0.83262	D	0.519	0.82043	D	10	0.019571364	0.00439	T	0.030051	0.52439	D	0.600	0.84183	0.755	0.88484	0.758059979048	0.75586	0.42919581317586686	0.42836	0.742688789753	0.63350	0.776012182236	0.78327	T	0.043946	0.68782	T	-0.111781	0.34475	T	0.0674732	0.74741	D	0.163788472197745	0.18147	T	0.945105	0.79107	D	0.35729945	0.57630	0.39017984	0.63819	0.35729945	0.57631	0.39017984	0.63819	-7.39	0.56834	T	.	.	0.467	0.63023	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.880864	0.80049	27.2	0.99924299996040078	0.98980	0.99902	0.99972	D	AEFDBI	0.920134	0.89167	D	0.700871172754308	0.79689	7.131065	0.75811752605351	0.86762	8.994405	0.999999999998225	0.74766	0.706548	0.73137	0	0.486142	0.07564	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	9.893000	0.98592	8.626000	0.77832	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.698	0.96034	141	0.94388	.;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1272.43	33	chr9	35399712	.	G	A	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.12;SOR=0.748	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1284,0,1482	9	0	1	0
chr9	35714812	35714812	G	C	exonic	TLN1	.	nonsynonymous SNV	TLN1:NM_006289:exon22:c.C2819G:p.S940C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0169917802009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.026	0.55759	D	0.396	0.34753	B	0.353	0.42910	B	0.000005	0.62929	D	0.110732	0.99983	0.49637	D	1.78	0.46185	L	-0.44	0.69777	T	-2.07	0.47344	N	0.502	0.53445	-0.5949	0.65024	T	0.263	0.63458	T	10	0.35125053	0.51979	T	0.016992	0.38500	T	0.123	0.34020	0.271	0.22052	0.569281680604	0.56593	0.17759278902364825	0.17678	0.739975342488	0.63197	0.55018478632	0.45884	T	0.626703	0.88376	D	-0.0248669	0.48158	T	-0.273496	0.47466	T	0.62720251083374	0.37502	D	0.886911	0.61435	D	0.13728741	0.31794	0.10197581	0.24428	0.13728741	0.31794	0.10197581	0.24427	-6.185	0.47801	T	.	.	0.088	0.11461	B	.	.	4.361127	0.67059	25.0	0.9606698981587537	0.28611	0.96231	0.68139	D	AEFDBCI	0.688349	0.64938	D	0.133140761875285	0.48014	3.019239	0.192196709085304	0.49419	3.145274	0.999999970959472	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	5.838000	0.69097	11.929000	0.99898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.798000	0.37648	0.0746:0.0:0.9254:0.0	12.825	0.57095	101	0.95833	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	735.43	34	chr9	35714812	.	G	C	735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.424;DP=387;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.949;SOR=0.433	GT:AD:DP:GQ:PL	0/1:43,33:76:99:747,0,1230	9	0	1	0
chr9	37541436	37541436	A	C	exonic	FBXO10	.	nonsynonymous SNV	FBXO10:NM_012166:exon2:c.T333G:p.S111R	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00808837983992	0.0005	0.00119808	0.0018	0.0001	0.0012	0	0	0.0017	0.0022	0.0052	0.0015977	247	154602	rs112964036	0.0010	0.0010	0.0009	0.0011	0.0045	0.0010	0.0009	0.0041	0.0040	5.974e-05	0.0011	0.0213	0	0	0.0045	0.0003	0.0021	0.0045	0.0009	0.0009	0.0008	0.0010	0.0044	0.0008	0.0008	0.0029	0.0025	2.408e-05	0	0.0006	0.0219	0	0	0	0.0005	0.0019	0.0044	0.125	0.27310	T	0.284	0.21411	T	0.002	0.09854	B	0.001	0.04355	B	0.001928	0.37643	N	0.350945	1	0.81001	D	0.69	0.16971	N	1.0	0.41392	T	-0.21	0.10308	N	0.274	0.31027	-1.1049	0.03547	T	0.045	0.19275	T	10	0.0052389205	0.00114	T	0.008088	0.21444	T	0.014	0.01968	0.261	0.20473	0.154104182512	0.14974	0.5458729683214153	0.54513	0.328850695401	0.34999	0.481089532375	0.36206	T	0.01887	0.15137	T	-0.621679	0.00107	T	-0.66496	0.07935	T	0.0186635374740232	0.00580	T	0.789921	0.43036	T	0.061248254	0.12662	0.06894797	0.14464	0.061248254	0.12662	0.06894797	0.14464	-4.221	0.27055	T	.	.	0.216	0.44514	B	.	.	0.630485	0.09991	6.743	0.95633289303742097	0.27418	0.15017	0.18702	N	AEFDGBI	0.074046	0.14829	N	-1.17026230695732	0.05454	0.2487063	-1.12892411779318	0.07152	0.3468194	0.439788413610773	0.20443	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	-2.73	0.05599	-0.763000	0.04846	-0.137000	0.11557	-0.065000	0.16512	0.016000	0.19238	0.001000	0.17328	0.652000	0.32748	0.3741:0.2467:0.3793:0.0	6.550	0.21626	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.006793	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	2448.43	33	chr9	37541436	.	A	C	2448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.83;DP=533;ExcessHet=0;FS=3.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.679;SOR=0.931	GT:AD:DP:GQ:PL	0/1:114,92:206:99:2460,0,2830	9	0	1	0
chr9	69857916	69857916	G	C	exonic	C9orf135	.	nonsynonymous SNV	C9orf135:NM_001308085:exon3:c.G91C:p.G31R,C9orf135:NM_001308086:exon3:c.G91C:p.G31R,C9orf135:NM_001010940:exon4:c.G388C:p.G130R,C9orf135:NM_001308084:exon4:c.G388C:p.G130R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0107897038745	.	0.000199681	1.65e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs150146241	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0002	9.86e-06	8.42e-06	8.891e-05	7.058e-05	0	0	0	0	0	0.0002	7.196e-06	0	0.0002	1.97e-05	1.969e-05	3.854e-05	0	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	0.015	0.52492	D	0.022	0.57587	D	0.994	0.66517	D	0.933	0.66815	D	0.004762	0.33407	N	0.210963	0.636458	0.30653	N	2.255	0.64187	M	.	.	.	-3.41	0.69357	D	0.416	0.49328	-0.6312	0.63520	T	0.217	0.57941	T	9	0.19595745	0.35468	T	0.01079	0.27726	T	0.182	0.45420	0.408	0.44230	0.0762999501168	0.06990	0.48550874043426073	0.48470	0.059884287588	0.06659	.	.	.	0.146261	0.48377	T	-0.129451	0.31585	T	-0.242196	0.50585	T	0.678827285766602	0.39735	D	0.722228	0.33695	T	0.24331293	0.47268	0.22270599	0.47125	0.24331293	0.47268	0.22270599	0.47124	-3.036	0.16869	T	.	.	0.317	0.58089	B	.;.	.;.	2.875092	0.38031	20.6	0.99847407773519781	0.92750	0.82069	0.41354	D	AEFBI	0.211178	0.33700	N	0.0395635417228033	0.43663	2.654905	0.0296734709620411	0.41099	2.463582	0.999814391024909	0.43459	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.635259	0.50027	0	.	.	5.2	4.29	0.50359	1.044000	0.29939	4.717000	0.44485	-0.144000	0.12334	0.998000	0.41325	1.000000	0.68203	0.033000	0.13494	0.0:0.1701:0.8299:0.0	12.279	0.54073	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	.	.	.	.	.	.	.	.	0.05	763.43	37	chr9	69857916	.	G	C	763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-1.1;SOR=0.63	GT:AD:DP:GQ:PL	0/1:56,36:92:99:775,0,1228	9	0	1	0
chr9	76502542	76502542	G	A	exonic	GCNT1	.	nonsynonymous SNV	GCNT1:NM_001097636:exon2:c.G161A:p.S54N,GCNT1:NM_001097633:exon3:c.G161A:p.S54N,GCNT1:NM_001097634:exon3:c.G161A:p.S54N,GCNT1:NM_001097635:exon3:c.G161A:p.S54N,GCNT1:NM_001490:exon4:c.G161A:p.S54N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00662506493988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.07378	T	0.516	0.10607	T	0.0	0.02946	B	0.0	0.01387	B	0.230674	0.15928	N	0.607178	1	0.08975	N	0.58	0.15352	N	0.91	0.44856	T	-0.23	0.10656	N	0.09	0.06854	-1.0452	0.15767	T	0.049	0.21026	T	9	0.029846251	0.01111	T	0.006625	0.17472	T	0.051	0.14325	0.313	0.28774	0.215109475489	0.21095	0.4323569128238159	0.43152	0.293677345316	0.31787	0.280002355576	0.07493	T	0.057804	0.30668	T	-0.328354	0.06236	T	-0.709434	0.05324	T	0.0232277007232804	0.01050	T	0.415058	0.10864	T	0.0187832	0.00402	0.03037033	0.01484	0.0187832	0.00401	0.03037033	0.01483	-4.082	0.25024	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	1.370819	0.17807	13.38	0.61640369777702031	0.06760	0.04147	0.09634	N	AEFBI	0.064450	0.12515	N	-0.884551221616487	0.11209	0.5397149	-0.857270621959811	0.13113	0.678453	0.990191481552044	0.32071	0.706548	0.73137	0	0.633656	0.55848	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.72	1.27	0.20595	1.120000	0.30885	1.173000	0.24639	0.596000	0.33519	0.002000	0.15269	0.001000	0.17328	0.822000	0.38733	0.4589:0.0:0.2489:0.2922	3.696	0.07898	871	0.31377	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1134.43	33	chr9	76502542	.	G	A	1134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.167;DP=406;ExcessHet=0;FS=5.203;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.17;SOR=0.687	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1146,0,1125	9	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	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	.	.	.	.	.	.	.	.	0.35	839.95	35	chr9	86018822	.	G	C	839.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.846;DP=779;ExcessHet=7.0302;FS=147.352;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.58;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,14:63:99:.:.:108,0,1341:.	3	0	7	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	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:200,150:373:99:1165,0,3152	0	0	10	0
chr9	97482924	97482924	C	T	exonic	TDRD7	.	nonsynonymous SNV	TDRD7:NM_001302884:exon14:c.C2266T:p.R756C,TDRD7:NM_014290:exon15:c.C2488T:p.R830C	Cataract 36	0	1501	21	0	0	21	0.00694674	.	.	.	319601	Cataract_36|TDRD7-related_disorder	MONDO:MONDO:0013484,MedGen:C3151304,OMIM:613887|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.215	0.0165181292983	0.0004	0.000798722	0.0009	0.0003	0.0010	0	0.0005	0.0011	0.0022	0.0005	0.0008409	130	154602	rs140697341	0.0006	0.0006	0.0006	0.0007	0.0028	0.0006	0.0006	0.0017	0.0014	0.0007	0.0010	0.0072	0	0.0010	0.0028	0.0004	0.0011	0.0005	0.0009	0.0009	0.0006	0.0011	0.0015	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0015	0.0075	0.0002	0.0012	0.0034	0.0007	0.0019	0.0006	0.094	0.31383	T	0.069	0.43913	T	1.0	0.90584	D	0.997	0.86255	D	0.000224	0.47286	D	0.252104	0.999998	0.58761	D	2.015	0.55033	M	2.57	0.13552	T	-2.52	0.54702	D	0.418	0.45803	-1.1083	0.03219	T	0.090	0.34628	T	10	0.008106023	0.00184	T	0.016518	0.37815	T	0.215	0.50805	.	.	0.464870050199	0.46114	0.6080530998970395	0.60737	0.626776388847	0.56798	0.314393341541	0.12572	T	0.282167	0.65490	T	-0.171513	0.25005	T	-0.0695836	0.65656	T	0.0589252446298112	0.06997	T	0.840516	0.51562	T	0.11106341	0.26247	0.081332795	0.18476	0.11106341	0.26247	0.081332795	0.18475	-2.811	0.08285	T	.	.	0.114	0.22644	B	.	.	4.788568	0.77693	26.7	0.99647869552333002	0.77068	0.94655	0.61878	D	AEFBI	0.557535	0.56712	D	0.41059120562521	0.62004	4.409478	0.487206890863386	0.67140	5.044496	0.197376636802961	0.18078	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.84	4.88	0.63131	2.993000	0.49114	3.995000	0.41022	-0.171000	0.11205	0.992000	0.37556	0.999000	0.35428	0.986000	0.61781	0.0:0.8617:0.1383:0.0	15.536	0.75742	695	0.58372	.	.	.	.	.	.	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	0.007049	0.000000	0.009511	0.008772	0.000000	0.008621	0.012195	0.000000	0.05	2604.43	33	chr9	97482924	.	C	T	2604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.156;SOR=0.661	GT:AD:DP:GQ:PL	0/1:99,108:207:99:2616,0,2184	9	0	1	0
chr9	98126721	98126721	C	T	exonic	CORO2A	.	nonsynonymous SNV	CORO2A:NM_003389:exon11:c.G1274A:p.R425Q,CORO2A:NM_052820:exon11:c.G1274A:p.R425Q	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0165203423516	0.0022	0.000599042	0.0023	0.0007	0.0022	0	0.0005	0.0033	0.0066	0.0008	0.0005175	80	154602	rs146552729	0.0029	0.0029	0.0030	0.0028	0.0085	0.0028	0.0028	0.0066	0.0059	0.0007	0.0022	0.0035	0	0.0003	0.0085	0.0033	0.0029	0.0012	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	0.0007	0	0.0024	0.0032	0	0.0003	0.0034	0.0034	0.0047	0.0015	0.43	0.09543	T	0.555	0.09267	T	0.001	0.07471	B	0.001	0.04355	B	0.413993	0.04608	N	1.359670	1	0.08975	N	0.145	0.08828	N	-0.57	0.71307	T	0.36	0.03700	N	0.116	0.10483	-1.0274	0.21299	T	0.082	0.32411	T	10	0.0040777028	0.00080	T	0.01652	0.37815	T	0.045	0.12272	.	.	0.461583377977	0.45782	0.13431117134133153	0.13355	0.244063042703	0.26914	0.182159513235	0.00115	T	0.019899	0.15767	T	-0.613249	0.00121	T	-0.654186	0.08663	T	0.0019479975708776	0.00020	T	0.40026	0.10182	T	0.0133296875	0.00056	0.020996915	0.00167	0.0133296875	0.00055	0.020996915	0.00167	-3.828	0.21223	T	.	.	0.067	0.03661	B	.;.	.;.	-2.058268	0.00089	0.002	0.60507674706301029	0.06480	0.00152	0.00917	N	AEFBI	0.031559	0.03400	N	-2.19257247478286	0.00080	0.003414471	-2.2567319725513	0.00083	0.003661872	0.999999999958102	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.17	-10.3	0.00281	-3.035000	0.00699	-4.221000	0.02273	-2.817000	0.00181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2532:0.1057:0.0854:0.5557	3.694	0.07888	722	0.55239	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.005051	0.010870	0.005848	0.050000	0.017241	0.009146	0.000000	0.05	743.43	34	chr9	98126721	.	C	T	743.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=394;ExcessHet=0;FS=2.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.032;SOR=1.041	GT:AD:DP:GQ:PL	0/1:52,33:85:99:755,0,1175	9	0	1	0
chr9	126693840	126693840	G	A	exonic	LMX1B	.	nonsynonymous SNV	LMX1B:NM_001174146:exon6:c.G914A:p.G305D	Nail-patella syndrome, Autosomal dominant	16	1474	32	0	0	32	0.0107383	.	.	.	1196037	not_specified|not_provided|LMX1B-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	.	0.0013	0.00319489	0.0092	0.0101	0.0093	0	0	0.0230	0	0.0040	0.0018628	288	154602	rs150656317	0.0045	0.0042	0.0044	0.0045	0.0245	0.0043	0.0043	0.0202	0.0186	0.0036	0.0039	0.0252	0	0.0004	0.0245	0.0042	0.0059	0.0031	0.0043	0.0043	0.0043	0.0043	0.0078	0.0041	0.0040	0.0066	0.0062	0.0025	0.0121	0.0078	0.0196	0.0002	0.0004	0.0510	0.0046	0.0043	0.0033	0.463	0.08660	T	0.507	0.10930	T	0.017	0.17573	B	0.007	0.12992	B	.	.	.	.	0.999979	0.18612	N	.	.	.	-1.04	0.76561	T	1.02	0.01369	N	0.103	0.09207	-1.0176	0.24495	T	0.093	0.35498	T	8	0.0039789677	0.00077	T	.	.	.	0.108	0.30607	.	.	0.434880891158	0.43107	0.7508548163077582	0.75032	1.33916717862	0.83813	.	.	.	0.097566	0.40051	T	-0.482546	0.00715	T	-0.464692	0.26090	T	0.000464322505933536	0.00004	T	0.379762	0.09155	T	.	.	.	.	.	.	.	.	-5.937	0.45749	T	.	.	0.204	0.46144	B	.;.	.;.	-0.065214	0.03855	0.832	0.30846492148849086	0.01708	0.00801	0.03263	N	AEFBI	0.036664	0.04922	N	-1.15848612729208	0.05641	0.2577192	-1.25131830733616	0.05111	0.24279	0.987308238982138	0.31233	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.02	-0.16	0.12720	-0.172000	0.09858	0.677000	0.20646	-0.939000	0.02101	0.145000	0.23581	0.035000	0.21413	0.002000	0.04165	0.0:0.2631:0.4685:0.2684	4.144	0.09675	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.026846	0.006410	0.044643	0.039394	0.000000	0.029412	0.020690	0.004132	0.1	374.14	36	chr9	126693840	.	G	A	374.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=266;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=1.79;SOR=0.646	GT:AD:DP:GQ:PL	0/1:8,8:16:99:205,0,178	8	0	2	0
chr9	128909319	128909319	C	T	exonic	LRRC8A	.	nonsynonymous SNV	LRRC8A:NM_001127245:exon2:c.C2155T:p.R719W,LRRC8A:NM_001127244:exon3:c.C2155T:p.R719W,LRRC8A:NM_019594:exon3:c.C2155T:p.R719W	.	.	.	.	.	.	.	.	0.7127	0.524	.	1399789	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.0754550250889	0.0002	0.000399361	0.0002	0.0013	0	0.0003	0	0	0	0.0001	0.0001294	20	154602	rs145027705	3.22e-05	3.283e-05	3.272e-05	3.167e-05	0.0009	2.481e-05	2.224e-05	0.0006	0.0005	0.0009	0	0	0.0002	0	0	4.498e-06	1.657e-05	6.957e-05	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0001	0	0.0002	0	0	1.47e-05	0	0	0.011	0.55530	D	0.058	0.46182	T	0.996	0.68779	D	0.636	0.51948	P	0.000000	0.84330	D	0.051141	0.999849	0.49770	D	2.37	0.68279	M	0.18	0.60361	T	-3.31	0.65972	D	0.779	0.77601	-0.3893	0.72364	T	0.291	0.66297	T	10	0.274602	0.45014	T	0.075455	0.72291	D	0.391	0.70684	.	.	0.41960043425	0.41580	0.6977303792848608	0.69714	1.57236916457	0.88220	0.748727202415	0.74259	T	0.246591	0.61609	T	-0.165672	0.25891	T	-0.0461307	0.67286	D	0.164043776656266	0.18165	T	0.974203	0.90777	D	0.49952117	0.67067	0.22675431	0.47663	0.49952117	0.67068	0.22675431	0.47662	-8.96	0.67439	D	.	.	0.451	0.62786	A	.;.;.	.;.;.	4.569649	0.72080	25.8	0.99916813616970823	0.98449	0.97348	0.74182	D	AEFDGBI	0.789717	0.71883	D	0.481745210501378	0.66024	4.896967	0.455517555192841	0.65073	4.777708	0.999999587714347	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.67	4.75	0.59954	1.972000	0.40163	3.096000	0.36300	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.983000	0.59808	0.3141:0.6859:0.0:0.0	13.221	0.59313	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	.	.	.	.	.	.	.	.	0.05	825.43	40	chr9	128909319	.	C	T	825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.792;SOR=0.854	GT:AD:DP:GQ:PL	0/1:30,30:60:99:837,0,660	9	0	1	0
chr9	129834709	129834709	-	A	exonic	C9orf78	.	frameshift insertion	C9orf78:NM_016520:exon2:c.140dupT:p.S48Efs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1201.39	35	chr9	129834709	.	C	CA	1201.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.614;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=-1.562;SOR=0.685	GT:AD:DP:GQ:PL	0/1:24,38:62:99:1213,0,700	9	0	1	0
chr9	130693813	130693813	C	G	exonic	EXOSC2	.	nonsynonymous SNV	EXOSC2:NM_001282708:exon1:c.C22G:p.P8A,EXOSC2:NM_001282709:exon1:c.C22G:p.P8A,EXOSC2:NM_014285:exon1:c.C22G:p.P8A	.	424	1080	18	0	0	18	0.00826446	.	.	.	700837	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0062	0.00439297	0.0066	0.0011	0.0055	0	0.0053	0.0101	0.0128	0.0007	0.0065911	1019	154602	rs148203698	0.0091	0.0091	0.0095	0.0087	0.0106	0.0089	0.0089	0.0102	0.0101	0.0015	0.0083	0.0122	0	0.0071	0.0106	0.0103	0.0087	0.0007	0.0073	0.0073	0.0073	0.0074	0.0169	0.0070	0.0068	0.0152	0.0146	0.0016	0	0.0169	0.0127	0	0.0042	0.0034	0.0100	0.0085	0.0004	0.308	0.14400	T	0.463	0.17804	T	0.163	0.28433	B	0.029	0.21540	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.995	0.54099	M	.	.	.	-0.61	0.20145	N	0.532	0.60071	-0.8987	0.48125	T	0.148	0.47451	T	9	0.0038621426	0.00073	T	.	.	.	0.133	0.36157	.	.	0.417843521124	0.41399	0.6175119277126452	0.61683	0.251371934609	0.27716	0.499638319016	0.38777	T	0.023743	0.18072	T	-0.290106	0.09626	T	-0.180098	0.56513	T	0.056697104391996	0.06637	T	0.886111	0.61435	D	0.51128685	0.67754	0.33483872	0.59305	0.3455371	0.56717	0.33483872	0.59304	-3.258	0.13201	T	.	.	0.124	0.36614	B	.;.;.;.;.	.;.;.;.;.	3.155387	0.42731	21.6	0.98005198761461765	0.37513	0.78834	0.38956	D	ALL	0.492025	0.52883	N	-0.00603962235549151	0.41582	2.489714	0.167353290337348	0.48069	3.027899	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	6.06	6.06	0.98340	3.852000	0.55642	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	19.609	0.95588	761	0.50382	.;.;.;.;.	.	.	.	.	.	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	0.008569	0.005102	0.004076	0.020468	0.000000	0.017241	0.012195	0.007576	0.05	745.43	33	chr9	130693813	.	C	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.394;DP=384;ExcessHet=0;FS=3.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.225;SOR=1.118	GT:AD:DP:GQ:PL	0/1:39,32:71:99:757,0,1009	9	0	1	0
chr9	132349370	132349370	C	T	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon3:c.G59A:p.R20H,SETX:NM_001351528:exon3:c.G59A:p.R20H,SETX:NM_015046:exon3:c.G59A:p.R20H	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1456	62	4	0	70	0.0234742	.	.	.	167386	not_specified|Hereditary_spastic_paraplegia|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4|not_provided|SETX-related_disorder	MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MedGen:C3661900|MedGen:CN239403	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0075	0.00499201	0.0091	0.0012	0.0036	0.0001	0.0147	0.0101	0.0188	0.0155	0.0086998	1345	154602	rs79740039	0.0088	0.0088	0.0084	0.0091	0.0171	0.0086	0.0086	0.0164	0.0161	0.0010	0.0042	0.0148	5.038e-05	0.0148	0.0102	0.0084	0.0089	0.0171	0.0064	0.0064	0.0061	0.0067	0.0153	0.0060	0.0059	0.0125	0.0115	0.0011	0.0022	0.0040	0.0187	0.0006	0.0122	0.0137	0.0084	0.0061	0.0153	0.17	0.22833	T	0.149	0.32568	T	0.001	0.07471	B	0.0	0.01387	B	0.735858	0.09817	N	0.885675	1	0.08975	N	-0.205	0.04094	N	-2.05	0.85799	D	-0.29	0.11728	N	0.15	0.15328	-0.8472	0.52161	T	0.270	0.64172	T	10	0.004255116	0.00085	T	.	.	.	0.159	0.41286	.	.	0.448201132538	0.44443	0.12600139864134424	0.12526	0.0917731457637	0.10355	0.204671382904	0.00605	T	0.117865	0.43827	T	-0.560547	0.00252	T	-0.564337	0.15973	T	0.00122955172566443	0.00012	T	0.361964	0.08365	T	0.014244143	0.00086	0.022708347	0.00291	0.014285566	0.00087	0.027406773	0.00891	-4.277	0.27853	T	0.1747803816770208	0.22217	0.069	0.02993	B	.	.	0.612085	0.09802	6.570	0.92263669881209909	0.21646	0.04053	0.09499	N	AEFDBI	0.036786	0.04956	N	-1.69140150977278	0.00873	0.03776316	-1.69040660015611	0.01180	0.05311669	0.999684626622567	0.41756	0.706548	0.73137	0	0.685571	0.66316	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.41	-2.16	0.06684	-0.510000	0.06411	0.104000	0.14688	-2.266000	0.00332	0.000000	0.06391	0.002000	0.18203	0.032000	0.13371	0.1089:0.3528:0.1068:0.4315	3.062	0.05828	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	1	0	0.006552	0.010101	0.002717	0.008772	0.000000	0.008621	0.009202	0.007576	0.05	899.43	35	chr9	132349370	.	C	T	899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.012;DP=411;ExcessHet=0;FS=2.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=1.3;SOR=0.448	GT:AD:DP:GQ:PL	0/1:61,43:104:99:911,0,1364	9	0	1	0
chr9	133121102	133121102	G	T	exonic	RALGDS	.	nonsynonymous SNV	RALGDS:NM_001271776:exon1:c.C53A:p.P18Q,RALGDS:NM_006266:exon1:c.C53A:p.P18Q	.	13	1504	5	0	0	5	0.00165948	.	.	.	2712747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.320063916056	.	.	0.0002	0	0	0	.	0.0005	0	0.0002	3.88e-05	6	154602	rs777637593	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0002	0.0005	0.0003	7.528e-05	0.0002	4.324e-05	0	0	0.0013	0.0002	0.0004	0.0003	0.0001	0.0001	0.0001	9.458e-05	0.0002	7.609e-05	6.308e-05	0.0001	7.913e-05	4.84e-05	0	0.0002	0	0	0	0	0.0002	0	0.0002	0.017	0.51248	D	0.529	0.10138	T	0.687	0.41560	P	0.275	0.40079	B	.	.	.	.	0.99997	0.53665	D	1.245	0.31408	L	1.78	0.35775	T	-0.38	0.13418	N	0.211	0.23506	-1.0960	0.04611	T	0.055	0.23110	T	9	0.11415234	0.21469	T	0.320064	0.91447	D	0.034	0.08419	0.222	0.14518	0.583271498735	0.57999	0.2223958581355402	0.22154	0.951127366345	0.72634	.	.	.	0.082593	0.36864	T	-0.374939	0.03351	T	-0.468934	0.25632	T	0.113294573615239	0.13762	T	0.654235	0.26451	T	0.090662636	0.21222	0.15986314	0.37263	0.090662636	0.21222	0.15986314	0.37262	-4.747	0.33968	T	.	.	0.168	0.37063	B	.;.	.;.	3.635035	0.51511	23.1	0.95093914747090269	0.26159	0.44646	0.27364	N	AEFDBHCI	0.068302	0.13466	N	-0.260126293096639	0.30700	1.714346	-0.266735603286712	0.29201	1.634143	0.99999999993139	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.29	2.33	0.27981	1.288000	0.32901	8.435000	0.77180	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:0.3974:0.6026:0.0	7.272	0.25437	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008017	0.000000	0.017167	0.015267	0.000000	0.000000	0.008547	0.000000	0.05	230.43	34	chr9	133121102	.	G	T	230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=224;ExcessHet=0;FS=2.392;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.375;SOR=1.828	GT:AD:DP:GQ:PL	0/1:9,8:17:99:242,0,215	9	0	1	0
chr9	133412859	133412859	G	A	exonic	REXO4	.	nonsynonymous SNV	REXO4:NM_001279350:exon3:c.C224T:p.A75V,REXO4:NM_001279351:exon3:c.C356T:p.A119V,REXO4:NM_020385:exon3:c.C635T:p.A212V	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0287614879275	7.7e-05	0.000998403	0.0008	0	0	0	0	4.511e-05	0.0022	0.0058	0.0007244	112	154602	rs139090649	0.0005	0.0005	0.0003	0.0006	0.0052	0.0005	0.0004	0.0048	0.0046	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	4.81e-05	0	0	0	0	0	0	0.0001	0.0005	0.0046	0.057	0.37966	T	0.099	0.92824	T	0.816	0.45573	P	0.085	0.29395	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	2.01	0.28189	T	-2.63	0.56466	D	0.428	0.46742	-0.9808	0.34817	T	0.076	0.30645	T	10	0.008217901	0.00186	T	0.028761	0.51384	D	0.154	0.40340	.	.	0.661333968228	0.65849	0.7696014770040387	0.76909	0.292443378065	0.31661	0.454005658627	0.32492	T	0.113201	0.43006	T	-0.286375	0.10002	T	-0.182905	0.56254	T	0.0555135360597435	0.06443	T	0.760924	0.38803	T	0.3463074	0.56778	0.31109592	0.57117	0.3463074	0.56778	0.31109592	0.57116	-9.366	0.70022	D	.	.	0.234	0.47600	B	.;.	.;.	4.786944	0.77651	26.7	0.9987822158636005	0.95491	0.96337	0.68646	D	AEFBCI	0.786355	0.71646	D	0.417084493693013	0.62360	4.450792	0.480800233503021	0.66717	4.988826	0.999999999999896	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	7.216000	0.77471	9.797000	0.81675	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:1.0:0.0	17.557	0.87794	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1607.43	42	chr9	133412859	.	G	A	1607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.194;DP=493;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.743;SOR=0.816	GT:AD:DP:GQ:PL	0/1:84,72:156:99:1619,0,1871	9	0	1	0
chr10	16915037	16915037	A	G	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon47:c.T7346C:p.M2449T	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1500	21	0	0	21	0.00695134	.	.	.	459738	Imerslund-Grasbeck_syndrome|not_provided|Imerslund-Grasbeck_syndrome_type_1|CUBN-related_disorder	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:C3661900|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0024	0.00339457	0.0044	0.0005	0.0010	0.0001	0.0002	0.0029	0.01	0.0190	0.0040556	627	154602	rs41301097	0.0033	0.0033	0.0028	0.0038	0.0181	0.0032	0.0032	0.0173	0.0170	0.0005	0.0011	0.0049	2.519e-05	0.0004	0.0084	0.0025	0.0036	0.0181	0.0021	0.0021	0.0021	0.0021	0.0155	0.0019	0.0018	0.0127	0.0117	0.0004	0	0.0004	0.0052	0	0.0002	0	0.0029	0.0019	0.0155	0.581	0.05973	T	0.55	0.09425	T	0.0	0.02946	B	0.001	0.04355	B	0.005953	0.01103	N	2.812850	1	0.08975	N	-0.73	0.01772	N	-0.86	0.74477	T	-0.01	0.07155	N	0.064	0.03613	-0.9600	0.39181	T	0.138	0.45526	T	10	0.0033961833	0.00059	T	.	.	.	0.058	0.16647	.	.	0.467416895013	0.46368	0.3127677485016908	0.31189	0.0900815735264	0.10158	0.21158324182	0.00880	T	0.034805	0.23469	T	-0.626878	0.00100	T	-0.658964	0.08337	T	0.00170003410307051	0.00017	T	0.150085	0.01260	T	0.039272573	0.05391	0.080931626	0.18350	0.039272573	0.05391	0.080931626	0.18349	-2.423	0.05276	T	0.06617062895478984	0.02237	0.064	0.01738	B	.	.	-0.028267	0.04090	0.960	0.17691399163817484	0.00526	0.08649	0.14548	N	AEFGI	0.083061	0.16824	N	-1.22731178148344	0.04608	0.2082969	-1.20217761194516	0.05875	0.2811844	0.677622759163957	0.22443	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.794256	0.99912	0	.	.	5.1	-1.28	0.08834	1.385000	0.34014	0.533000	0.19265	0.684000	0.82519	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.2886:0.3393:0.3721:0.0	4.945	0.13336	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.2	3081.55	34	chr10	16915037	.	A	G	3081.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.978;DP=448;ExcessHet=0.0405;FS=1.133;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.406;SOR=0.816	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1752,192,0	7	1	2	0
chr10	25599252	25599252	T	C	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon11:c.T3626C:p.I1209T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0188541422164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.036	0.52060	D	0.0	0.02946	B	0.001	0.04355	B	0.255005	0.03672	N	1.738420	1	0.08975	N	0.345	0.11182	N	0.08	0.61559	T	1.15	0.01151	N	0.025	0.00485	-0.9952	0.31245	T	0.091	0.34765	T	10	0.04474306	0.03465	T	0.018854	0.41045	T	0.055	0.15663	0.208	0.12497	0.102598925029	0.09809	0.0834286449580263	0.08276	0.121343787576	0.13666	0.273273259401	0.06572	T	0.007771	0.07155	T	-0.302793	0.08398	T	-0.672717	0.07435	T	0.10545600461471	0.12946	T	0.242376	0.03494	T	0.04824243	0.08376	0.05240851	0.08628	0.04824243	0.08376	0.05240851	0.08628	-2.857	0.08720	T	.	.	0.121	0.25034	B	.;.	.;.	0.187234	0.05738	2.183	0.62164240563977835	0.06893	0.09213	0.15014	N	AEFI	0.104130	0.20844	N	-1.27850782108478	0.03935	0.1767078	-1.26799225806625	0.04870	0.2307596	1.0764567782042E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	-3.77	0.04062	-0.423000	0.07102	-0.190000	0.11047	-0.278000	0.06506	0.040000	0.20979	0.000000	0.08366	0.828000	0.39026	0.1053:0.5069:0.1076:0.2802	6.102	0.19275	898	0.25240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	32.43	33	chr10	25599252	.	T	C	32.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.241;DP=324;ExcessHet=0;FS=12.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.91;SOR=3.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,6:32:44:0|1:25599248_G_C:44,0,988:25599248	9	0	1	0
chr10	27012920	27012920	G	A	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon32:c.C4912T:p.R1638W,ANKRD26:NM_014915:exon32:c.C4915T:p.R1639W	Thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1859298	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.0118246508101	8.4e-05	.	3.314e-05	0	0	0	0	5.996e-05	0	0	3.23e-05	5	154602	rs368507197	3.079e-05	3.078e-05	3.131e-05	3.025e-05	3.598e-05	2.347e-05	2.095e-05	2.711e-05	2.387e-05	2.988e-05	0	3.827e-05	0	0	0	3.598e-05	3.312e-05	1.159e-05	3.285e-05	3.283e-05	5.139e-05	1.345e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.021	0.49613	D	0.184	0.31026	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-3.22	0.64939	D	0.191	0.20925	-0.9903	0.32525	T	0.056	0.23677	T	9	0.10569465	0.19550	T	0.011825	0.29821	T	0.057	0.16321	.	.	0.112648838833	0.10856	0.11481796909576056	0.11409	0.25259744787	0.27827	0.169977396727	0.00032	T	.	.	.	-0.242783	0.14996	T	-0.478861	0.24567	T	0.599113643169403	0.36365	D	0.755524	0.37862	T	0.06538373	0.13967	0.07652607	0.16957	0.06538373	0.13967	0.07652607	0.16957	-4.166	0.26257	T	.	.	0.119	0.24498	B	.;.	.;.	1.472312	0.18966	14.02	0.99563011805387647	0.71892	0.03937	0.09332	N	AEFBI	0.136303	0.25693	N	-0.802036684623642	0.13258	0.6518583	-0.98678611378754	0.10081	0.505536	0.00106906064742318	0.08183	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.73	-4.39	0.03360	0.573000	0.23401	-20.000000	0.00162	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.569000	0.30626	0.1949:0.2552:0.3169:0.2331	0.972	0.01328	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	863.43	33	chr10	27012920	.	G	A	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=-0.052;SOR=0.77	GT:AD:DP:GQ:PL	0/1:18,31:49:99:875,0,385	9	0	1	0
chr10	27398808	27398808	G	T	exonic	PTCHD3	.	nonsynonymous SNV	PTCHD3:NM_001034842:exon4:c.C1790A:p.T597K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.0829792617912	.	.	2.475e-05	0	0	0	0	4.501e-05	0	0	2.59e-05	4	154602	rs770276918	2.327e-05	2.326e-05	2.588e-05	2.063e-05	3.059e-05	1.675e-05	1.478e-05	2.202e-05	1.943e-05	0	0	0	0	0	0	3.059e-05	0	0	3.946e-05	3.941e-05	6.428e-05	1.346e-05	0.0001	1.717e-05	1.13e-05	2.268e-05	1.125e-05	0	0	0.0001	0	0	0	0	5.882e-05	0	0	0.003	0.68238	D	0.009	0.66756	D	0.87	0.47827	P	0.739	0.55653	P	0.005669	0.32605	N	0.346426	0.996381	0.23031	N	2.62	0.76659	M	-2.0	0.85393	D	-4.43	0.77554	D	0.465	0.50146	-0.0845	0.80453	T	0.657	0.88092	D	10	0.74187064	0.75014	D	0.082979	0.74018	D	0.527	0.80007	.	.	0.382592752248	0.37866	.	.	0.461688473962	0.45703	0.40982785821	0.26433	T	0.248671	0.61850	T	0.0308233	0.55833	T	-0.129855	0.60985	T	0.974708199501038	0.70620	D	.	.	.	0.70716006	0.78451	0.6432241	0.79148	0.70716006	0.78452	0.6432241	0.79149	-10.042	0.74163	D	.	.	0.319	0.54456	B	.	.	2.418229	0.31091	18.64	0.9781479782228486	0.36155	0.85646	0.44801	D	AEFI	0.174052	0.30116	N	0.175860928590338	0.50042	3.198109	0.03934709997902	0.41560	2.498882	0.00140959161360732	0.08512	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.19	3.28	0.36691	3.215000	0.50871	0.129000	0.15021	0.526000	0.24426	1.000000	0.71638	0.001000	0.17328	0.385000	0.26447	0.1838:0.0:0.8162:0.0	9.142	0.36072	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1893.43	101	chr10	27398808	.	G	T	1893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=871;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.977;SOR=0.604	GT:AD:DP:GQ:PL	0/1:80,74:154:99:1905,0,1881	9	0	1	0
chr10	34317230	34317230	T	C	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184791:exon17:c.A2726G:p.K909R,PARD3:NM_001184790:exon18:c.A2681G:p.K894R,PARD3:NM_001184786:exon19:c.A2903G:p.K968R,PARD3:NM_001184788:exon19:c.A2813G:p.K938R,PARD3:NM_001184789:exon19:c.A2813G:p.K938R,PARD3:NM_001184794:exon19:c.A2813G:p.K938R,PARD3:NM_001184785:exon20:c.A2942G:p.K981R,PARD3:NM_001184787:exon20:c.A2951G:p.K984R,PARD3:NM_001184792:exon20:c.A2942G:p.K981R,PARD3:NM_001184793:exon20:c.A2849G:p.K950R,PARD3:NM_019619:exon20:c.A2951G:p.K984R	.	429	1084	9	0	0	9	0.00413413	.	.	.	3206031	PARD3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00537531025545	.	0.000599042	0.0008	0	0	0	0	0.0002	0	0.0047	0.0006274	97	154602	rs200130312	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0047	2.987e-05	0.0001	3.826e-05	0	0	0.0024	0.0002	0.0005	0.0052	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0006	0	0	0	0	0.0002	0	0.0044	0.439	0.15613	T	0.229	0.41405	T	0.001	0.14184	B	0.004	0.15521	B	0.014598	0.28488	N	0.404642	0.557243	0.32183	D	0.315	0.10303	N	1.45	0.32482	T	-1.24	0.33197	N	0.146	0.14763	-1.0451	0.15796	T	0.055	0.23375	T	10	0.0043361783	0.00088	T	0.005375	0.13771	T	0.031	0.07369	0.325	0.30711	0.306606720791	0.30265	0.0394300521374119	0.03889	0.0698374760876	0.07817	0.320736885071	0.13533	T	0.215996	0.57804	T	-0.622963	0.00105	T	-0.666666	0.07823	T	0.0116788487424321	0.00179	T	0.857714	0.56927	D	0.047509383	0.08131	0.049264885	0.07493	0.040747296	0.05873	0.04566475	0.06193	-3.607	0.29435	T	.	.	0.078	0.07036	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.168555	0.27635	17.53	0.98762351355122246	0.45831	0.90862	0.52401	D	AEFBI	0.402359	0.47648	N	-0.391060253620372	0.25787	1.402419	-0.280967106806349	0.28725	1.603851	0.883927345974525	0.25684	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	0.801	0.17822	2.202000	0.42377	0.863000	0.22246	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3325:0.0:0.6675	8.232	0.30765	946	0.12043	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003627	0.000000	0.000000	0.000000	0.000000	0.017241	0.012195	0.007576	0.1	1529.14	33	chr10	34317230	.	T	C	1529.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.668;DP=391;ExcessHet=0.2348;FS=4.433;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.586;SOR=0.704	GT:AD:DP:GQ:PL	0/1:27,32:59:99:812,0,633	8	0	2	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T	.	434	1062	24	2	0	28	0.0130112	.	.	.	3221913	BMS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	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	0.016129	0.000000	0.005495	0.021930	0.000000	0.017241	0.011029	0.037815	0.1	1338.14	33	chr10	42820245	.	G	A	1338.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=382;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.28;SOR=0.777	GT:AD:DP:GQ:PL	0/1:18,24:42:99:654,0,385	8	0	2	0
chr10	43206023	43206023	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon2:c.G118A:p.G40S,RASGEF1A:NM_145313:exon2:c.G94A:p.G32S	.	421	1075	1	0	25	26	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0012	0.0355431	0.0223	0.0034	0.0008	0.1112	0.0296	0.0023	0.0198	0.0691	0.0154461	2388	154602	rs117610424	0.0082	0.0082	0.0068	0.0096	0.1059	0.0081	0.0080	0.1032	0.1021	0.0013	0.0005	0.0029	0.1059	0.0217	0.0057	0.0005	0.0106	0.0612	0.0086	0.0087	0.0062	0.0112	0.0964	0.0082	0.0081	0.0895	0.0867	0.0020	0	0.0012	0.0032	0.0964	0.0240	0.0034	0.0014	0.0061	0.0702	0.714	0.04032	T	0.728	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.141388	0.02889	N	1.688360	1	0.08975	N	0	0.06538	N	-0.29	0.67712	T	0.34	0.03955	N	0.077	0.05162	-1.1060	0.03437	T	0.002	0.00526	T	10	0.0016499162	0.00020	T	.	.	.	0.038	0.09825	.	.	.	.	0.1659222229049595	0.16512	0.724846526864	0.62416	0.330052435398	0.14942	T	0.00418	0.03591	T	-0.626039	0.00101	T	-0.59456	0.13274	T	0.000216800669837077	0.00001	T	0.377862	0.09347	T	0.026439305	0.01702	0.038807113	0.03831	0.026439305	0.01702	0.038807113	0.03830	-4.742	0.34916	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	-0.177307	0.03209	0.533	0.54145436056785945	0.05079	0.07866	0.13857	N	AEFBI	0.068383	0.13486	N	-1.7530624372783	0.00670	0.0289256	-1.79795619577989	0.00766	0.03414931	0.999932391636118	0.46732	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.68	-6.04	0.01995	-0.579000	0.05927	-5.905000	0.01557	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1782:0.1384:0.6834	7.288	0.25522	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008081	0.005051	0.000000	0.008824	0.000000	0.017241	0.000000	0.026515	0.05	1418.43	36	chr10	43206023	.	C	T	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.197;DP=403;ExcessHet=0;FS=1.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.485;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,38:83:99:0|1:43206023_C_T:1430,0,1694:43206023	9	0	1	0
chr10	46549752	46549752	G	C	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.C985G:p.P329A,GPRIN2:NM_001385276:exon3:c.C985G:p.P329A,GPRIN2:NM_001385282:exon3:c.C985G:p.P329A,GPRIN2:NM_014696:exon3:c.C985G:p.P329A,GPRIN2:NM_001385277:exon4:c.C985G:p.P329A,GPRIN2:NM_001385278:exon4:c.C985G:p.P329A,GPRIN2:NM_001385279:exon4:c.C985G:p.P329A,GPRIN2:NM_001385280:exon4:c.C985G:p.P329A,GPRIN2:NM_001385281:exon4:c.C985G:p.P329A,GPRIN2:NM_001385283:exon4:c.C985G:p.P329A,GPRIN2:NM_001385287:exon4:c.C1057G:p.P353A,GPRIN2:NM_001385289:exon4:c.C1057G:p.P353A,GPRIN2:NM_001385300:exon4:c.C1057G:p.P353A,GPRIN2:NM_001385291:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385293:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385294:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385295:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385296:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385301:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385297:exon6:c.C1057G:p.P353A,GPRIN2:NM_001385298:exon6:c.C1057G:p.P353A,GPRIN2:NM_001385299:exon6:c.C1057G:p.P353A	.	402	1104	16	0	0	16	0.00719424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025847	3996	154602	rs145616440	0.0013	0.0018	0.0011	0.0016	0.0078	0.0013	0.0013	0.0073	0.0071	0.0002	0.0007	0.0064	0	0.0001	0.0052	0.0009	0.0017	0.0078	0.0010	0.0014	0.0011	0.0010	0.0089	0.0009	0.0008	0.0068	0.0061	7.21e-05	0	0.0006	0.0049	0.0002	9.407e-05	0	0.0012	0.0005	0.0089	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	0.03408	T	-2.27	0.50666	N	0.12	0.14763	.	.	.	.	.	.	.	0.008723378	0.00198	T	.	.	.	.	.	.	.	.	.	0.09040861771506424	0.08973	.	.	.	.	.	0.002657	0.02045	T	.	.	.	.	.	.	.	.	.	0.474753	0.14169	T	.	.	.	.	.	.	.	.	-2.293	0.04517	T	.	.	0.061	0.01092	B	.;.	.;.	-0.060755	0.03882	0.846	.	.	.	.	.	.	0.064288	0.12475	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059000	0.14199	0.257000	0.16498	0.618000	0.50648	0.001000	0.13787	0.449000	0.24943	0.617000	0.31819	.	.	.	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	.	.	.	.	.	.	.	.	0.05	760.43	257	chr10	46549752	.	G	C	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.254;DP=1912;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.47;ReadPosRankSum=-0.815;SOR=0.713	GT:AD:DP:GQ:PL	0/1:176,43:219:99:772,0,5784	9	0	1	0
chr10	47523435	47523435	A	G	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon1:c.T92C:p.I31T	.	440	1064	17	1	0	19	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380521698	0.0019	0.0020	0.0016	0.0022	0.0153	0.0019	0.0018	0.0124	0.0113	0.0002	0.0012	0.0085	0	0.0002	0.0153	0.0013	0.0026	0.0093	0.0015	0.0016	0.0016	0.0014	0.0110	0.0014	0.0013	0.0086	0.0078	0.0002	0	0.0008	0.0076	0.0004	0.0002	0	0.0018	0.0020	0.0110	0.084	0.32929	T	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.49	0.89145	D	-0.84	0.22944	N	0.194	0.21319	.	.	.	.	.	.	.	0.024654835	0.00686	T	.	.	.	.	.	.	.	0.428516003163	0.42472	0.0380011833725335	0.03746	.	.	.	.	.	.	.	.	0.319574	0.84442	D	0.221269	0.84238	D	.	.	.	0.549445	0.18903	T	.	.	.	.	.	.	.	.	-2.87	0.08847	T	.	.	0.257	0.49177	B	.	.	1.104214	0.14890	11.41	0.67376507974388811	0.08336	0.01099	0.04035	N	AEFI	.	.	.	.	.	.	.	.	.	1.09790265576154E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.116056	0.24210	1.38	0.143	0.14116	0.355000	0.19902	0.811000	0.21752	0.364000	0.20138	0.110000	0.22992	0.005000	0.19230	0.009000	0.08673	0.7372:0.0:0.2628:0.0	3.227	0.06337	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	328.43	36	chr10	47523435	.	A	G	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.255;DP=262;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=27.19;MQRankSum=-0.982;QD=11.33;ReadPosRankSum=-0.285;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,16:29:99:340,0,294	9	0	1	0
chr10	50009732	50009732	T	G	exonic	AGAP6	.	nonsynonymous SNV	AGAP6:NM_001077665:exon8:c.T1607G:p.V536G,AGAP6:NM_001365867:exon9:c.T1004G:p.V335G	.	414	1107	1	0	0	1	0.000451467	.	.	.	2697555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.351	0.000699873025321	.	0.000199681	0.0002	0	0.0003	0	0.0012	7.692e-05	0	0.0001	0.0008837	23	26028	rs531472394	8.073e-05	0.0001	7.216e-05	8.939e-05	0.0003	6.868e-05	6.421e-05	0.0002	0.0002	0	8.946e-05	0	0	0.0010	0	3.148e-05	1.656e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	7.571e-05	6.277e-05	2.846e-05	1.858e-05	0	0	6.538e-05	0	0	0.0010	0	7.349e-05	0	0.0002	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000000	0.84330	N	0.000000	0.859262	0.35358	D	-4.285	0.00000	N	2.45	0.15028	T	.	.	.	0.227	0.28965	-0.9254	0.44801	T	0.046	0.19839	T	8	0.023828626	0.00636	T	0.002391	0.04673	T	0.176	0.44373	.	.	0.0482279557977	0.04254	.	.	.	.	0.73387658596	0.72074	T	0.028185	0.20474	T	-0.258591	0.13066	T	-0.609224	0.12048	T	0.293648809194565	0.24741	T	0.427157	0.11500	T	0.0653136	0.13945	0.059462823	0.11164	0.0653136	0.13945	0.059462823	0.11163	3.91	0.00009	T	.	.	0.023	0.00000	B	.;.;.	.;.;.	0.682887	0.10515	7.227	0.1112622970502011	0.00159	0.00999	0.03784	N	AEFI	0.013226	0.00169	N	-1.37608946134671	0.02863	0.1270575	-1.43748171177587	0.02885	0.1335743	8.57984586588986E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	0.046	0.046	0.13572	5.152000	0.64727	4.095000	0.41830	-1.443000	0.01102	1.000000	0.71638	0.996000	0.32793	0.094000	0.17991	1.0E-4:0.0:0.6394:0.3606	4.690	0.12160	714	0.56256	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1722.43	99	chr10	50009732	.	T	G	1722.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.436;DP=738;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.1;MQRankSum=-8.958;QD=12.13;ReadPosRankSum=-0.933;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,51:142:99:0|1:50009732_T_G:1734,0,3523:50009732	9	0	1	0
chr10	50009739	50009739	C	G	exonic	AGAP6	.	nonsynonymous SNV	AGAP6:NM_001077665:exon8:c.C1614G:p.D538E,AGAP6:NM_001365867:exon9:c.C1011G:p.D337E	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.000686901389681	.	.	2.538e-05	0	0	0	0	1.54e-05	0	0.0001	.	.	.	rs782383117	2.052e-05	2.873e-05	1.089e-05	3.025e-05	0.0002	1.456e-05	1.264e-05	0.0002	0.0001	0	0	0	0	0	0	8.094e-06	0	0.0002	2.628e-05	2.627e-05	1.285e-05	4.036e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	6.546e-05	0	0	0	0	1.47e-05	0	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000000	0.84330	N	0.052581	0.998656	0.22008	N	-0.005	0.05143	N	1.05	0.39990	T	.	.	.	0.054	0.05670	-1.0187	0.24139	T	0.030	0.12935	T	9	0.03402397	0.01596	T	6.87E-4	0.00418	T	0.117	0.32689	.	.	0.0138822411134	0.00435	.	.	.	.	0.690455198288	0.65772	T	6.89E-4	0.00306	T	-0.548552	0.00298	T	-0.751434	0.03430	T	0.0153577984327113	0.00342	T	0.474753	0.14169	T	0.049306214	0.08734	0.036077473	0.02983	0.049306214	0.08733	0.036077473	0.02983	-3.39	0.14922	T	.	.	0.154	0.34049	B	.;.;.	.;.;.	0.186781	0.05734	2.180	0.3996210126755152	0.02790	0.00660	0.02859	N	AEFI	0.023048	0.01233	N	-1.30366144180767	0.03634	0.1626424	-1.34586284342078	0.03854	0.1806702	1.09784753356016E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	0.046	0.046	0.13572	-0.029000	0.12278	-3.362000	0.02845	0.122000	0.17641	0.048000	0.21332	0.000000	0.08366	0.172000	0.21044	2.0E-4:0.5059:0.4937:2.0E-4	3.650	0.07736	714	0.56256	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1674.43	99	chr10	50009739	.	C	G	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.808;DP=729;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.2;MQRankSum=-8.406;QD=12.4;ReadPosRankSum=-1.957;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,49:135:99:0|1:50009732_T_G:1686,0,3387:50009732	9	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	508.83	35	chr10	50104143	.	G	C	508.83	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.594;DP=606;ExcessHet=2.8389;FS=154.041;InbreedingCoeff=-0.5384;MLEAC=3;MLEAF=0.25;MQ=55.53;MQRankSum=0.493;QD=1.44;ReadPosRankSum=0.834;SOR=9.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,14:77:38:0|1:50104141_G_C:38,0,1970:50104141	4	0	2	4
chr10	50820634	50820634	A	G	exonic	A1CF	.	nonsynonymous SNV	A1CF:NM_001370130:exon7:c.T785C:p.V262A,A1CF:NM_001370131:exon7:c.T785C:p.V262A,A1CF:NM_014576:exon8:c.T785C:p.V262A,A1CF:NM_138932:exon8:c.T785C:p.V262A,A1CF:NM_138933:exon8:c.T809C:p.V270A,A1CF:NM_001198818:exon9:c.T785C:p.V262A,A1CF:NM_001198820:exon9:c.T809C:p.V270A,A1CF:NM_001198819:exon10:c.T809C:p.V270A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.00760788073721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.53900	D	0.002	0.79402	D	0.86	0.47373	P	0.269	0.39840	B	0.000018	0.62929	D	0.116239	1	0.81001	D	1.115	0.28702	L	2.56	0.13673	T	-3.83	0.72120	D	0.813	0.81559	-0.3220	0.74366	T	0.333	0.70043	T	10	0.81449115	0.80700	D	0.007608	0.20192	T	0.403	0.71636	0.772	0.89846	0.262662153117	0.25859	0.6818375176024806	0.68122	0.351907675512	0.37028	0.807566940784	0.83119	D	0.317187	0.68867	T	0.0417434	0.57274	T	-0.177815	0.56724	T	0.986461043357849	0.77175	D	0.953905	0.82456	D	0.3900563	0.60036	0.39222893	0.63973	0.3900563	0.60036	0.39222893	0.63973	-11.365	0.82000	D	.	.	0.945	0.88969	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.700202	0.75409	26.3	0.99898485359916955	0.97124	0.98994	0.89685	D	AEFBI	0.969630	0.99200	D	0.346871192006311	0.58573	4.030505	0.491047689174012	0.67396	5.078318	0.999537465918807	0.40238	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	5.8	0.92081	8.919000	0.92353	11.090000	0.85912	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.112	0.64655	688	0.59122	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|ACF, RNA recognition motif 3;.;.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|ACF, RNA recognition motif 3;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1319.43	36	chr10	50820634	.	A	G	1319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=479;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-0.56;SOR=0.626	GT:AD:DP:GQ:PL	0/1:83,61:144:99:1331,0,1907	9	0	1	0
chr10	59654074	59654074	T	C	exonic	SLC16A9	.	nonsynonymous SNV	SLC16A9:NM_001323977:exon5:c.A691G:p.I231V,SLC16A9:NM_001323979:exon5:c.A691G:p.I231V,SLC16A9:NM_001323980:exon5:c.A691G:p.I231V,SLC16A9:NM_194298:exon5:c.A952G:p.I318V,SLC16A9:NM_001323978:exon6:c.A691G:p.I231V,SLC16A9:NM_001323981:exon6:c.A952G:p.I318V	.	.	.	.	.	.	.	.	.	.	.	3328937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0138056265827	.	0.000399361	1.65e-05	9.696e-05	0	0	0	1.5e-05	0	0	3.23e-05	5	154602	rs199889507	3.01e-05	3.01e-05	3.267e-05	2.75e-05	0.0004	2.282e-05	2.032e-05	0.0003	0.0002	0.0004	6.708e-05	0	0	0	0.0002	1.709e-05	9.935e-05	0	3.282e-05	3.281e-05	1.285e-05	5.369e-05	7.215e-05	1.26e-05	7.97e-06	1.913e-05	1.03e-05	7.215e-05	0	6.533e-05	0	0	0	0	1.47e-05	0	0	0.186	0.21467	T	0.153	0.32144	T	0.003	0.11197	B	0.009	0.14300	B	0.000146	0.49130	N	0.177997	0.95868	0.38088	D	1.745	0.45235	L	0.33	0.58323	T	-0.73	0.20576	N	0.17	0.18103	-1.0153	0.25240	T	0.129	0.43686	T	10	0.06667289	0.09179	T	0.013806	0.33491	T	0.045	0.12272	.	.	0.0934897674506	0.08844	0.3897814462467087	0.38893	0.102388022642	0.11590	0.313021600246	0.12364	T	0.049933	0.28448	T	-0.202064	0.20507	T	-0.445162	0.28232	T	0.0307726824658524	0.02110	T	0.677732	0.28664	T	0.07399528	0.16573	0.10295429	0.24689	0.07399528	0.16573	0.10295429	0.24689	-4.909	0.35836	T	.	.	0.071	0.04041	B	.;.	.;.	1.425728	0.18429	13.73	0.76815777827017107	0.11620	0.82055	0.41343	D	AEFDGBHCI	0.437467	0.49726	N	-0.561303367834277	0.20130	1.05897	-0.421557480643705	0.24365	1.333862	0.999381125999493	0.39415	0.706298	0.61202	0	0.541556	0.11502	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.92	2.56	0.29842	1.404000	0.34232	1.926000	0.29741	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.1503:0.0:0.8497	9.221	0.36539	957	0.09725	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1480.43	36	chr10	59654074	.	T	C	1480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.865;DP=457;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=3.06;SOR=0.635	GT:AD:DP:GQ:PL	0/1:66,66:132:99:1492,0,1657	9	0	1	0
chr10	60871549	60871549	A	G	exonic	RHOBTB1	.	nonsynonymous SNV	RHOBTB1:NM_001350910:exon10:c.T1664C:p.I555T,RHOBTB1:NM_001350904:exon11:c.T2024C:p.I675T,RHOBTB1:NM_001350905:exon11:c.T2024C:p.I675T,RHOBTB1:NM_014836:exon11:c.T2024C:p.I675T,RHOBTB1:NM_001242359:exon12:c.T2024C:p.I675T,RHOBTB1:NM_001350902:exon12:c.T2024C:p.I675T,RHOBTB1:NM_001350903:exon12:c.T2024C:p.I675T,RHOBTB1:NM_001350908:exon12:c.T1664C:p.I555T,RHOBTB1:NM_001350909:exon12:c.T1664C:p.I555T,RHOBTB1:NM_001350911:exon12:c.T1664C:p.I555T,RHOBTB1:NM_001350906:exon13:c.T1664C:p.I555T,RHOBTB1:NM_001350907:exon13:c.T1664C:p.I555T	.	395	1125	2	0	0	2	0.000888099	.	.	.	3586554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00342866109926	7.7e-05	.	4.12e-05	0	8.648e-05	0	0	5.995e-05	0	0	3.23e-05	5	154602	rs374936128	3.284e-05	3.283e-05	2.314e-05	4.263e-05	0.0014	2.543e-05	2.249e-05	0.0007	0.0005	5.974e-05	0.0001	0	0	0	0.0014	1.709e-05	3.312e-05	0.0001	2.63e-05	2.627e-05	2.57e-05	2.693e-05	0.0004	8.15e-06	5.14e-06	7.31e-05	3.036e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	0.378	0.11262	T	0.373	0.16328	T	0.019	0.17989	B	0.028	0.21332	B	0.015932	0.28113	N	0.300467	0.993261	0.23743	N	0.69	0.16971	N	2.5	0.14408	T	-0.14	0.09135	N	0.073	0.04668	-0.9681	0.37592	T	0.015	0.05946	T	10	0.04912463	0.04458	T	0.003429	0.07725	T	0.061	0.17616	.	.	0.419335720491	0.41547	0.2191917102338589	0.21835	0.248197981235	0.27377	0.500613152981	0.38914	T	0.044845	0.26939	T	-0.368264	0.03683	T	-0.564108	0.15992	T	0.0404205300215372	0.03767	T	0.612239	0.23293	T	0.043615393	0.06828	0.05317436	0.08904	0.043615393	0.06828	0.05317436	0.08904	-3.226	0.12800	T	.	.	0.068	0.02861	B	.;.	.;.	2.591147	0.33614	19.39	0.94684786496973861	0.25322	0.89687	0.50312	D	AEBI	0.422839	0.48867	N	-0.374351580168028	0.26387	1.439662	-0.119504013607144	0.34604	1.992391	0.999999033261375	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	3.962000	0.56473	5.438000	0.48612	0.684000	0.82519	0.995000	0.38783	0.906000	0.28050	0.999000	0.91618	0.8539:0.0:0.0:0.1461	10.388	0.43335	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	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1003.43	36	chr10	60871549	.	A	G	1003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.156;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.842;SOR=0.665	GT:AD:DP:GQ:PL	0/1:69,46:115:99:1015,0,1723	9	0	1	0
chr10	61662996	61662996	-	GGGCAGACCCCGGCA	exonic	CABCOCO1	.	nonframeshift insertion	CABCOCO1:NM_001366906:exon1:c.24_25insGGGCAGACCCCGGCA:p.G9_P10insQTPAG,CABCOCO1:NM_001366907:exon1:c.24_25insGGGCAGACCCCGGCA:p.G9_P10insQTPAG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.021e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	938.61	8	chr10	61662996	.	G	GGGGCAGACCCCGGCA	938.61	.	AC=2;AF=0.167;AN=12;DP=28;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.07;SOR=1.23	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	5	1	0	4
chr10	70541512	70541512	A	G	exonic	PALD1	.	nonsynonymous SNV	PALD1:NM_014431:exon17:c.A2099G:p.K700R	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0100	0.00758786	0.0026	0.0281	0.0013	0	0	4.759e-05	0.0024	0	0.0023027	356	154602	rs79311679	0.0008	0.0008	0.0009	0.0007	0.0292	0.0008	0.0008	0.0276	0.0270	0.0292	0.0016	0	2.519e-05	0	0.0010	2.608e-05	0.0016	4.642e-05	0.0078	0.0079	0.0082	0.0075	0.0275	0.0075	0.0073	0.0262	0.0256	0.0275	0	0.0022	0	0	0	0.0034	0.0001	0.0043	0.0002	0.043	0.41364	D	0.045	0.49390	D	0.025	0.19245	B	0.053	0.25678	B	0.000249	0.46924	U	0.181068	0.995109	0.81001	D	1.93	0.51437	L	1.85	0.24472	T	-1.42	0.34992	N	0.3	0.33904	-1.1052	0.03517	T	0.021	0.08917	T	10	0.007730514	0.00176	T	.	.	.	0.087	0.25287	.	.	0.589222994759	0.58597	0.448258477799977	0.44743	0.170867716227	0.19251	0.653899729252	0.60540	T	0.031172	0.21919	T	-0.547109	0.00304	T	-0.537031	0.18589	T	0.0677833076280445	0.08337	T	0.824917	0.48720	T	0.056057766	0.10978	0.12860657	0.30939	0.056057766	0.10977	0.12860657	0.30938	-5.534	0.42185	T	.	.	0.100	0.17189	B	.	.	3.382024	0.46789	22.4	0.99674456143744861	0.78846	0.97539	0.75410	D	AEFDBI	0.731744	0.67872	D	-0.210197180608701	0.32715	1.848004	-0.148866316991892	0.33451	1.913674	0.999998879485303	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.62	2.49	0.29274	7.035000	0.76245	6.942000	0.56995	0.715000	0.85334	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.902:0.0:0.098:0.0	8.282	0.31068	388	0.83355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	532.43	33	chr10	70541512	.	A	G	532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=1.84;SOR=0.826	GT:AD:DP:GQ:PL	0/1:36,22:58:99:544,0,862	9	0	1	0
chr10	70741033	70741033	C	T	exonic	ADAMTS14	.	stopgain	ADAMTS14:NM_080722:exon12:c.C1795T:p.Q599X,ADAMTS14:NM_139155:exon12:c.C1804T:p.Q602X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.423	0.47022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.155990	0.99604	45	0.9985909356108672	0.93729	0.93611	0.58692	D	AEFDGBCI	0.319667	0.42300	N	1.09448671934669	0.98031	17.27298	0.959229455960573	0.97672	16.54342	0.999999999999997	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	7.568000	0.81546	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.691	0.91542	336	0.86165	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1398.43	74	chr10	70741033	.	C	T	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.816;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.906;SOR=0.725	GT:AD:DP:GQ:PL	0/1:42,61:103:99:1410,0,981	9	0	1	0
chr10	75235684	75235684	T	C	exonic	COMTD1	.	nonsynonymous SNV	COMTD1:NM_144589:exon2:c.A154G:p.S52G	.	433	1069	18	2	0	22	0.0101852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.046977043092	0.0003	0.000998403	0.0024	0.0003	0.0071	0	0	0.0017	0.0086	0.0037	0.0012419	192	154602	rs200334065	0.0011	0.0011	0.0010	0.0012	0.0080	0.0010	0.0010	0.0061	0.0055	0.0002	0.0029	3.885e-05	2.571e-05	0.0001	0.0080	0.0010	0.0015	0.0030	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0007	0.0008	0.0008	0.0005	0	0.0012	0	0	0	0.0102	0.0010	0.0024	0.0014	0.172	0.22660	T	0.239	0.24477	T	0.403	0.34918	B	0.031	0.21939	B	0.000305	0.45977	D	0.254671	0.996335	0.23046	N	1.67	0.42885	L	-0.53	0.70833	T	-0.94	0.25118	N	0.271	0.30687	-0.9326	0.43755	T	0.155	0.48670	T	10	0.007448137	0.00169	T	0.046977	0.62709	D	0.054	0.15330	.	.	0.772796092587	0.77070	0.4309459188616709	0.43011	0.385891351295	0.39878	0.464715868235	0.33956	T	0.09514	0.39561	T	-0.502747	0.00552	T	-0.497989	0.22555	T	0.0113847863134919	0.00170	T	0.517648	0.16760	T	0.26779887	0.49852	0.09805693	0.23365	0.26779887	0.49852	0.09805693	0.23364	-4.625	0.32484	T	.	.	0.107	0.20117	B	.	.	2.017661	0.25641	16.83	0.97972297565841349	0.37261	0.80462	0.40093	D	AEFDGBHCI	0.135922	0.25642	N	-0.228388186074571	0.31973	1.798296	-0.118941844953823	0.34625	1.99395	0.999999999979343	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	5.29	2.53	0.29594	1.296000	0.32994	1.713000	0.28208	-0.222000	0.07959	0.878000	0.30948	0.984000	0.30665	0.172000	0.21044	0.0:0.1056:0.1831:0.7112	5.244	0.14806	19	0.98577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005635	0.010989	0.005479	0.002976	0.000000	0.000000	0.006289	0.003817	0.1	631.14	34	chr10	75235684	.	T	C	631.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.13;DP=345;ExcessHet=0.2348;FS=0.884;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.389;SOR=0.852	GT:AD:DP:GQ:PL	0/1:21,22:43:99:434,0,377	8	0	2	0
chr10	79559428	79559428	G	A	exonic	SFTPA2	.	nonsynonymous SNV	SFTPA2:NM_001320814:exon2:c.C86T:p.A29V,SFTPA2:NM_001098668:exon3:c.C56T:p.A19V,SFTPA2:NM_001320813:exon3:c.C56T:p.A19V	Pulmonary fibrosis, idiopathic, Autosomal dominant	0	1462	60	0	0	60	0.0201072	.	.	.	3192701	SFTPA2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.001	0.00189814060386	.	.	0.0001	0.0003	0	0.0005	0	8.994e-05	0	6.057e-05	0.0002781	43	154602	rs201847938	0.0012	0.0021	0.0012	0.0012	0.0323	0.0012	0.0012	0.0308	0.0302	0.0047	0.0006	3.828e-05	0.0323	0.0004	0.0005	0.0001	0.0018	0.0003	0.0038	0.0060	0.0037	0.0040	0.0304	0.0036	0.0035	0.0265	0.0250	0.0085	0	0.0022	0	0.0304	0	0	0.0005	0.0039	0.0006	0.418	0.10766	T	0.536	0.21011	T	.	.	.	.	.	.	0.010486	0.01277	N	3.044690	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.07	0.17417	N	0.099	0.08786	-1.0191	0.24008	T	0.018	0.07565	T	10	0.007704824	0.00175	T	0.001898	0.03351	T	0.001	0.00016	.	.	0.0297737177859	0.01360	0.22878249210169205	0.22793	1.20388962658	0.80625	0.303709745407	0.10956	T	.	.	.	-0.743731	0.00019	T	-0.833133	0.01208	T	0.00226092024672188	0.00023	T	0.244176	0.22338	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.45298	B	.;.;.;.;.	.;.;.;.;.	0.044720	0.04601	1.271	0.70924366433238284	0.09456	0.00317	0.01669	N	AEFDBI	0.021427	0.00953	N	-1.46253944312824	0.02120	0.09327911	-1.52497080398142	0.02153	0.09860438	1.60258661699625E-4	0.05650	0.497415	0.19182	0	0.59043	0.45803	0	0.55458	0.18720	0	0.542086	0.14980	0	.	.	2.78	-2.32	0.06360	-0.338000	0.07888	0.153000	0.15315	-0.615000	0.04575	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.41:0.0:0.3331:0.2569	2.56	0.04480	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	0.001740	0.006944	0.001366	0.000000	0.000000	0.000000	0.003597	0.000000	0.05	46.43	38	chr10	79559428	.	G	A	46.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.77;DP=811;ExcessHet=0;FS=70.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.39;MQRankSum=-3.627;QD=0.27;ReadPosRankSum=-3.849;SOR=5.36	GT:AD:DP:GQ:PL	0/1:153,18:171:58:58,0,3884	9	0	1	0
chr10	84241393	84241393	G	A	exonic	LRIT1	.	nonsynonymous SNV	LRIT1:NM_015613:exon1:c.C47T:p.P16L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00721235765164	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768222670	2.743e-06	3.42e-06	0	5.514e-06	3.005e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	3.005e-05	0	0	2.528e-05	0	0	1.801e-06	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.545e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.804222	0.09300	N	0.910005	1	0.08975	N	-1.065	0.01049	N	1.35	0.34648	T	2.0	0.00406	N	0.096	0.07673	-0.9841	0.34045	T	0.025	0.10688	T	10	0.03599423	0.01875	T	0.007212	0.19116	T	0.072	0.21020	0.453	0.51612	0.141422826196	0.13715	0.2121606331679276	0.21132	0.079923404182	0.08995	0.277705073357	0.07175	T	0.006236	0.05676	T	-0.460725	0.00973	T	-0.727118	0.04460	T	0.0487541465666622	0.05279	T	0.444056	0.12368	T	0.022040399	0.00842	0.030404605	0.01492	0.022040399	0.00842	0.030404605	0.01492	-3.787	0.20610	T	.	.	0.077	0.06295	B	.	.	0.145052	0.05383	1.862	0.63046012975906429	0.07120	0.00651	0.02833	N	AEFDBI	0.061660	0.11802	N	-1.14795255050599	0.05813	0.2660057	-1.05623984742185	0.08577	0.4223897	2.83117863147542E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	4.46	2.06	0.25932	1.160000	0.31372	0.340000	0.17371	0.614000	0.49286	0.057000	0.21666	0.000000	0.08366	0.089000	0.17737	0.3919:0.0:0.2854:0.3227	2.003	0.03261	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1111.43	34	chr10	84241393	.	G	A	1111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=392;ExcessHet=0;FS=5.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.061;SOR=1.144	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1123,0,758	9	0	1	0
chr10	89306689	89306689	G	C	exonic	IFIT2	.	nonsynonymous SNV	IFIT2:NM_001547:exon2:c.G733C:p.G245R	.	421	1064	37	0	0	37	0.0170901	.	.	.	712502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0055	0.00459265	0.0070	0.0013	0.0044	0.0128	0.0035	0.0084	0.0111	0.0049	0.0070245	1086	154602	rs41284134	0.0068	0.0068	0.0067	0.0069	0.0310	0.0067	0.0066	0.0273	0.0259	0.0025	0.0039	0.0047	0.0113	0.0062	0.0310	0.0070	0.0070	0.0042	0.0055	0.0055	0.0057	0.0052	0.0123	0.0052	0.0050	0.0099	0.0090	0.0019	0.0022	0.0039	0.0023	0.0123	0.0057	0.0204	0.0076	0.0099	0.0033	0.255	0.16848	T	0.209	0.26798	T	0.0	0.02946	B	0.0	0.01387	B	0.440592	0.12632	U	0.678971	1	0.08975	N	0.255	0.09829	N	1.15	0.38236	T	-1.34	0.33401	N	0.122	0.11340	-1.0566	0.12621	T	0.016	0.06711	T	10	0.0033566654	0.00058	T	.	.	.	0.016	0.02506	.	.	0.17258766438	0.16869	0.16177601230667774	0.16098	0.212422641144	0.23743	0.184119105339	0.00138	T	0.036867	0.24264	T	-0.596728	0.00153	T	-0.62054	0.11143	T	0.000261870921775061	0.00002	T	0.0333967	0.00218	T	0.057331856	0.11395	0.044266384	0.05697	0.057331856	0.11395	0.044266384	0.05697	-2.998	0.10159	T	.	.	0.116	0.27553	B	.;.;.	.;.;.	-1.064037	0.00684	0.020	0.65071085912305715	0.07669	0.03715	0.09002	N	AEFGBI	0.079180	0.15988	N	-1.51045435924621	0.01781	0.07800894	-1.58510024626986	0.01746	0.07942316	0.999999679713609	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.58	-6.03	0.02001	-0.942000	0.04031	-4.702000	0.02026	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.1602:0.3556:0.2905:0.1936	2.871	0.05271	818	0.41518	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	.	Likely benign	0	0	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	0.023162	0.010101	0.038043	0.035088	0.050000	0.008621	0.012195	0.007576	0.05	2755.43	102	chr10	89306689	.	G	C	2755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.375;DP=769;ExcessHet=0;FS=3.115;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.56;ReadPosRankSum=0.036;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,73:134:99:0|1:89306689_G_C:2767,0,2242:89306689	9	0	1	0
chr10	89339709	89339709	G	C	exonic	IFIT3	.	nonsynonymous SNV	IFIT3:NM_001031683:exon2:c.G1054C:p.V352L,IFIT3:NM_001549:exon2:c.G1054C:p.V352L,IFIT3:NM_001289758:exon3:c.G898C:p.V300L,IFIT3:NM_001289759:exon3:c.G898C:p.V300L	.	428	1050	44	0	0	44	0.0205224	.	.	.	712503	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0095	0.00838658	0.0079	0.0120	0.0065	0.0034	0.0035	0.0092	0.0132	0.0044	0.0080659	1247	154602	rs140549288	0.0073	0.0073	0.0072	0.0073	0.0376	0.0072	0.0071	0.0335	0.0319	0.0147	0.0065	0.0082	0.0019	0.0067	0.0376	0.0073	0.0090	0.0039	0.0090	0.0091	0.0095	0.0085	0.0142	0.0086	0.0085	0.0133	0.0129	0.0142	0.0033	0.0064	0.0055	0.0033	0.0058	0.0340	0.0078	0.0137	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.953658	0.08270	N	0.978763	1	0.08975	N	-2.15	0.00138	N	3.12	0.08106	T	1.21	0.01064	N	0.031	0.00770	-0.9382	0.42900	T	0.002	0.00707	T	10	0.0034144819	0.00060	T	.	.	.	0.026	0.05648	.	.	0.151104730317	0.14643	0.05788137922859237	0.05729	0.190880070537	0.21403	0.213487833738	0.00968	T	0.009261	0.08439	T	-0.795479	0.00008	T	-0.904396	0.00472	T	0.00421190610503837	0.00045	T	0.285571	0.05082	T	0.028140498	0.02107	0.03136494	0.01715	0.028140498	0.02107	0.03136494	0.01715	-2.58	0.06352	T	.	.	0.078	0.06942	B	.;.	.;.	-1.019289	0.00744	0.023	0.46844251783305813	0.03783	0.01127	0.04103	N	AEFBCI	0.031552	0.03397	N	-1.70175386471248	0.00836	0.03613641	-1.63272795159315	0.01467	0.06639746	0.146792270760237	0.17372	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.34	-1.5	0.08233	-1.091000	0.03480	-0.914000	0.06944	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2526:0.2304:0.3221:0.1948	0.842	0.01078	865	0.32612	.;.	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	rs140549288	Likely benign	0	0	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	0.035750	0.045455	0.050272	0.046784	0.050000	0.025862	0.012195	0.011364	0.05	1482.43	33	chr10	89339709	.	G	C	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=499;ExcessHet=0;FS=3.096;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.199;SOR=0.924	GT:AD:DP:GQ:PL	0/1:82,57:139:99:1494,0,1959	9	0	1	0
chr10	96620549	96620549	C	T	exonic	PIK3AP1	.	nonsynonymous SNV	PIK3AP1:NM_152309:exon12:c.G1744A:p.V582I	.	.	.	.	.	.	.	.	.	.	.	525639	Infantile_spasms|not_specified	Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.132	0.0198578127881	.	0.000199681	4.213e-05	0	0	0.0002	0	3.066e-05	0	6.115e-05	3.88e-05	6	154602	rs201358424	5.616e-05	5.678e-05	6.268e-05	4.956e-05	0.0006	4.615e-05	4.241e-05	0.0004	0.0003	5.981e-05	2.236e-05	0	0.0006	0	0	4.677e-05	4.979e-05	2.321e-05	6.568e-05	6.562e-05	6.425e-05	6.718e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0002	7.222e-05	0	0	0	0.0010	0	0	1.47e-05	0	0.0002	0.064	0.59928	T	0.132	0.41913	T	0.998	0.77913	D	0.801	0.62632	P	0.013611	0.28787	N	0.353469	0.999985	0.58761	D	1.995	0.54099	M	0.83	0.47815	T	-0.6	0.22727	N	0.209	0.24260	-0.8555	0.51584	T	0.197	0.55229	T	10	0.08286765	0.13724	T	0.019858	0.42327	T	0.132	0.35948	.	.	0.408277909041	0.40440	0.2306900144824461	0.22984	0.597579573787	0.54949	0.428688108921	0.29029	T	0.247555	0.61721	T	-0.388985	0.02731	T	-0.389302	0.34632	T	0.14936032838187	0.17052	T	0.805819	0.45382	T	0.08003071	0.18315	0.06855335	0.14330	0.08003071	0.18315	0.06855335	0.14330	-4.409	0.29679	T	.	.	0.09	0.24833	B	.;.;.	.;.;.	3.524784	0.49421	22.8	0.99620702087429958	0.75413	0.89611	0.50186	D	AEFBCI	0.721901	0.67200	D	0.313657143307133	0.56849	3.850385	0.274298323795183	0.54044	3.570592	0.999999823039008	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.48	4.58	0.56077	5.108000	0.64447	5.955000	0.51719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.0:0.9234:0.0:0.0766	13.106	0.58663	580	0.69689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	761.43	36	chr10	96620549	.	C	T	761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=-0.504;SOR=0.527	GT:AD:DP:GQ:PL	0/1:17,28:45:99:773,0,359	9	0	1	0
chr10	102138731	102138731	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon3:c.C455T:p.S152L,PPRC1:NM_001288728:exon3:c.C95T:p.S32L,PPRC1:NM_015062:exon3:c.C455T:p.S152L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0213879915693	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1017509149	1.026e-05	1.026e-05	1.361e-05	6.875e-06	2.519e-05	6.16e-06	4.89e-06	5.31e-06	3.88e-06	0	2.236e-05	0	2.519e-05	0	0	9.892e-06	1.656e-05	1.159e-05	2.629e-05	2.627e-05	2.569e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.011	0.67890	D	1.0	0.90584	D	0.926	0.66095	D	0.002954	0.35672	N	0.128905	0.995538	0.48635	D	1.935	0.51832	L	0.54	0.54911	T	-1.95	0.47514	N	0.676	0.75374	-0.7387	0.58519	T	0.236	0.60270	T	10	0.5357054	0.63435	D	0.021388	0.44151	T	0.190	0.46781	0.21	0.12781	0.355511061997	0.35164	0.33619672616790974	0.33532	0.434137609734	0.43540	0.644403100014	0.59190	T	0.109499	0.63963	T	0.159057	0.70113	D	0.0875513	0.76082	D	0.848712682723999	0.50055	D	0.952405	0.82069	D	0.17353238	0.38107	0.25935268	0.51682	0.17353238	0.38107	0.25935268	0.51681	-4.361	0.29023	T	.	.	0.392	0.59148	A	.;.	.;.	4.652696	0.74177	26.1	0.99830308445557725	0.91198	0.98905	0.88430	D	AEFDBCI	0.855417	0.77254	D	0.567123256675012	0.71131	5.604495	0.594478309326109	0.74542	6.154913	0.999999999992534	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	7.477000	0.80071	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	18.228	0.89862	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2181.43	34	chr10	102138731	.	C	T	2181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=480;ExcessHet=0;FS=4.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=1.71;SOR=0.587	GT:AD:DP:GQ:PL	0/1:83,87:170:99:2193,0,1832	9	0	1	0
chr10	102141234	102141234	T	C	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.T2726C:p.V909A,PPRC1:NM_001288728:exon5:c.T2366C:p.V789A,PPRC1:NM_015062:exon5:c.T2726C:p.V909A	.	393	1072	56	1	0	58	0.0263397	.	.	.	3202232	PPRC1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.0101490930981	0.0015	0.00119808	0.0029	0.0009	0.0029	0	0	0.0031	0.0066	0.0059	0.002639	408	154602	rs143292683	0.0020	0.0020	0.0019	0.0022	0.0196	0.0020	0.0019	0.0167	0.0156	0.0004	0.0032	0.0087	2.519e-05	9.36e-05	0.0196	0.0016	0.0034	0.0062	0.0021	0.0021	0.0019	0.0023	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0066	0	0	0.0102	0.0022	0.0024	0.0048	0.002	0.72154	D	0.374	0.16280	T	0.231	0.30614	B	0.039	0.23607	B	0.040146	0.24091	N	0.298293	0.999961	0.19072	N	1.83	0.48079	L	1.83	0.25018	T	0.02	0.06739	N	0.238	0.27792	-1.0440	0.16118	T	0.037	0.16116	T	10	0.0036765337	0.00067	T	0.010149	0.26346	T	0.047	0.12962	.	.	0.0675242888579	0.06100	0.14303085265315366	0.14226	0.500752496802	0.48480	0.469196081161	0.34570	T	0.013009	0.30165	T	-0.521682	0.00430	T	-0.519524	0.20342	T	0.0373172031698167	0.03211	T	0.783222	0.42989	T	0.058052696	0.11632	0.085910715	0.19868	0.058052696	0.11631	0.085910715	0.19868	-2.879	0.08935	T	.	.	0.188	0.40441	B	.;.	.;.	2.026997	0.25760	16.88	0.86320634306687338	0.16458	0.29377	0.23805	N	AEFBCI	0.053537	0.09655	N	-0.49094756658609	0.22378	1.19442	-0.420153200462829	0.24406	1.336295	0.99382276453179	0.33371	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.965000	0.28916	4.582000	0.43923	0.665000	0.62972	0.035000	0.20724	1.000000	0.68203	0.012000	0.09680	0.0:0.0:0.1692:0.8308	10.053	0.41398	666	0.61362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.024457	0.008772	0.050000	0.000000	0.021341	0.007576	0.1	4610.14	34	chr10	102141234	.	T	C	4610.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.14;DP=705;ExcessHet=0.2348;FS=2.121;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.379;SOR=0.593	GT:AD:DP:GQ:PL	0/1:102,82:184:99:2040,0,2427	8	0	2	0
chr10	103442334	103442334	G	T	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon32:c.G4829T:p.R1610L	.	422	1075	24	1	0	26	0.0119485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.0367462078812	0.0008	0.000599042	0.0018	0.0002	0.0023	0	0.0003	0.0022	0.0011	0.0019	0.0016235	251	154602	rs146747336	0.0013	0.0013	0.0012	0.0014	0.0114	0.0012	0.0012	0.0092	0.0084	0.0004	0.0018	0.0007	2.519e-05	0.0001	0.0114	0.0013	0.0019	0.0021	0.0012	0.0012	0.0012	0.0012	0.0027	0.0011	0.0010	0.0020	0.0018	0.0002	0	0.0027	0.0003	0	9.414e-05	0.0102	0.0017	0.0019	0.0017	0.003	0.68238	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	3.86	0.95841	H	0.35	0.58029	T	-5.45	0.85468	D	0.938	0.94432	-0.2425	0.76561	T	0.377	0.73475	T	10	0.13564369	0.25810	T	0.036746	0.57186	D	0.654	0.86986	.	.	0.852766357386	0.85135	0.6665941392184932	0.66597	0.883252375535	0.69847	0.649729847908	0.59948	T	0.309287	0.68132	T	0.0350935	0.56401	T	0.271157	0.86636	D	0.185547338264019	0.19579	T	0.940606	0.78488	D	0.7041179	0.78283	0.56602	0.74880	0.7041179	0.78284	0.56602	0.74881	-12.067	0.85175	D	.	.	0.601	0.70856	P	.;.	.;.	4.526875	0.71028	25.6	0.99811934372495681	0.89531	0.98332	0.81714	D	AEFDGBCI	0.879771	0.80595	D	0.77631878431213	0.84606	8.334682	0.706344262369974	0.82860	7.873137	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	9.354000	0.96488	11.749000	0.95364	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.122000	0.19250	0.0:0.0:1.0:0.0	19.250	0.93908	227	0.91186	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009073	0.000000	0.017663	0.014620	0.050000	0.000000	0.003067	0.003788	0.05	353.43	36	chr10	103442334	.	G	T	353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.476;DP=363;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=0.387;SOR=0.929	GT:AD:DP:GQ:PL	0/1:29,17:46:99:365,0,702	9	0	1	0
chr10	103473561	103473561	C	A	exonic	CALHM3	.	nonsynonymous SNV	CALHM3:NM_001129742:exon3:c.G687T:p.E229D	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0200583200693	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs764564522	6.791e-05	6.498e-05	7.053e-05	6.522e-05	0.0019	5.672e-05	5.268e-05	0.0011	0.0008	3.165e-05	0.0002	0	0	0	0.0019	4.912e-05	0.0002	0.0002	9.188e-05	9.186e-05	0.0001	6.71e-05	0.0004	5.521e-05	4.36e-05	7.907e-05	5.993e-05	0	0	6.53e-05	0	0	0	0.0034	0.0001	0	0.0004	0.014	0.53172	D	0.021	0.58089	D	.	.	.	.	.	.	0.000005	0.62929	D	0.061154	0.993476	0.41951	D	2.075	0.57047	M	2.15	0.19311	T	-2.31	0.51319	N	0.651	0.66187	-1.0916	0.05270	T	0.082	0.32411	T	10	0.396944	0.55294	T	0.020058	0.42574	T	0.160	0.41473	0.366	0.37361	0.134241683229	0.13084	0.46104046279709593	0.46022	.	.	0.79662168026	0.81449	T	0.041443	0.25860	T	-0.307966	0.07928	T	-0.410848	0.32128	T	0.348093599081039	0.26944	T	0.853415	0.53896	D	0.27270666	0.50339	0.29651344	0.55683	0.27270666	0.50339	0.29651344	0.55683	-4.862	0.35305	T	.	.	0.424	0.60884	A	.	.	3.777977	0.54301	23.5	0.99812589362195903	0.89620	0.90466	0.51665	D	AEFDBIJ	0.386955	0.46712	N	0.494920238967499	0.66793	4.996224	0.511576269708431	0.68767	5.265843	0.999998193613234	0.74766	0.514905	0.20481	0	0.491513	0.07743	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	0.695000	0.25205	3.191000	0.36704	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:0.8005:0.0:0.1995	7.418	0.26225	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002370	0.000000	0.000000	0.008696	0.000000	0.000000	0.000000	0.011111	0.05	1837.43	37	chr10	103473561	.	C	A	1837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.125;DP=530;ExcessHet=0;FS=4.575;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.75;SOR=0.678	GT:AD:DP:GQ:PL	0/1:84,79:163:99:1849,0,2039	9	0	1	0
chr10	103602141	103602141	G	A	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon9:c.C2720T:p.A907V,SH3PXD2A:NM_014631:exon14:c.C2993T:p.A998V	.	427	1092	3	0	0	3	0.00137174	.	.	.	2285490	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0336813566423	.	.	6.275e-05	0	0.0002	0	0	7.823e-05	0	0	4.53e-05	7	154602	rs778867319	3.647e-05	3.967e-05	3.05e-05	4.258e-05	0.0002	2.832e-05	2.564e-05	2.88e-05	2.553e-05	0	4.789e-05	4.222e-05	0	0	0.0002	3.846e-05	3.406e-05	4.989e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.181	0.21884	T	0.427	0.13832	T	0.321	0.36046	B	0.101	0.37080	B	0.065420	0.21883	N	0.503510	1	0.08975	N	0	0.06538	N	0.62	0.53516	T	-0.32	0.12283	N	0.142	0.16725	-1.0449	0.15854	T	0.095	0.36003	T	10	0.06058836	0.07465	T	0.033681	0.55150	D	0.093	0.26882	0.152	0.05544	0.398283496042	0.39440	0.43179688616529655	0.43096	0.444622479715	0.44363	0.390740573406	0.23773	T	0.011506	0.10257	T	-0.244567	0.14771	T	-0.403807	0.32943	T	0.0619511866926315	0.07473	T	0.79582	0.44001	T	0.04380937	0.06895	0.049669407	0.07639	0.04380937	0.06894	0.049669407	0.07638	-5.054	0.37769	T	.	.	0.085	0.13080	B	.;.	.;.	1.191062	0.15824	12.13	0.9245954923151124	0.21885	0.14495	0.18433	N	AEFDBCI	0.090008	0.18242	N	-0.693309431649439	0.16211	0.8239244	-0.72185623810965	0.16417	0.8683759	0.998898414070815	0.37915	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.27	2.02	0.25641	1.325000	0.33330	6.115000	0.53713	0.590000	0.31872	0.001000	0.13787	0.997000	0.33255	0.021000	0.11733	0.0:0.266:0.5134:0.2206	8.274	0.31022	85	0.96447	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1092.43	95	chr10	103602141	.	G	A	1092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.357;DP=887;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=0.038;SOR=1.153	GT:AD:DP:GQ:PL	0/1:38,36:74:99:1104,0,1159	9	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	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	.	.	.	.	.	.	.	.	0.2857	1574.67	137	chr10	117341050	.	C	T	1574.67	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.629;DP=814;ExcessHet=1.5895;FS=271.185;InbreedingCoeff=-0.3792;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=2.67;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,41:111:99:0|1:117341048_C_T:594,0,1738:117341048	3	0	4	3
chr10	122489621	122489621	C	T	exonic	HTRA1	.	nonsynonymous SNV	HTRA1:NM_002775:exon3:c.C772T:p.H258Y	CARASIL syndrome, Autosomal recessive;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0317483576247	.	.	1.668e-05	0	0	0	0	1.514e-05	0.0011	0	1.29e-05	2	154602	rs760165455	8.897e-06	9.577e-06	6.809e-06	1.1e-05	0.0007	4.96e-06	3.83e-06	0.0003	0.0002	0	0	3.827e-05	0	0	0.0007	1.799e-06	8.288e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002965	0.35639	N	0.292371	0.965666	0.25928	N	0.625	0.15840	N	-2.33	0.87910	D	-1.53	0.37178	N	0.163	0.17140	-0.8479	0.52113	T	0.250	0.61923	T	10	0.15284723	0.28863	T	0.031748	0.53753	D	0.235	0.53788	0.521	0.62368	0.748565761474	0.74629	0.33087240357129194	0.33000	0.591015907945	0.54545	0.518860340118	0.41466	T	0.36919	0.73395	T	-0.194604	0.21585	T	-0.416682	0.31457	T	0.0660742223262787	0.08089	T	0.783522	0.44873	T	0.18958521	0.40506	0.122259334	0.29492	0.18958521	0.40506	0.122259334	0.29491	-5.818	0.44731	T	0.2210804370749612	0.29811	0.089	0.11989	B	.;.	.;.	2.874248	0.38013	20.6	0.9473657017642656	0.25423	0.39746	0.26282	N	AEFBI	0.423497	0.48906	N	-0.74015411997915	0.14903	0.7463474	-0.557244531783643	0.20614	1.111408	0.995342935123356	0.34076	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	2.89	0.32713	0.146000	0.16000	.	.	0.599000	0.40250	0.424000	0.26361	1.000000	0.68203	0.969000	0.54022	0.1457:0.4813:0.1423:0.2307	2.139	0.03540	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	257.43	37	chr10	122489621	.	C	T	257.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=346;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.044;SOR=1.371	GT:AD:DP:GQ:PL	0/1:20,10:30:99:269,0,532	9	0	1	0
chr10	124447668	124447668	C	T	exonic	NKX1-2	.	nonsynonymous SNV	NKX1-2:NM_001146340:exon2:c.G694A:p.G232R	.	316	1205	1	0	0	1	0.000414766	.	.	.	2708741	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.452	0.928804009753	.	.	0.0001	0	0	0	0	0.0004	0	0	1.94e-05	3	154602	rs763815659	3.157e-05	2.942e-05	2.697e-05	3.636e-05	0.0012	2.363e-05	2.075e-05	0.0005	0.0003	0	0.0001	0.0005	0	0	0.0012	1.715e-05	6.05e-05	0	2.002e-05	1.976e-05	1.304e-05	2.733e-05	6.629e-05	5.32e-06	2.48e-06	.	.	0	0	6.629e-05	0.0006	0	0	0	0	0	0	0.008	0.58626	D	0.003	0.76473	D	0.957	0.54824	D	0.619	0.51356	P	.	.	.	.	0.999846	0.49770	D	0.695	0.17993	N	-2.75	0.90792	D	-2.76	0.58569	D	0.255	0.28849	0.494	0.90464	D	0.731	0.90787	D	8	0.27589786	0.45149	T	0.928804	0.99483	D	0.452	0.75211	0.367	0.37524	0.489036454283	0.48535	0.3977534980975178	0.39690	.	.	0.889746665955	0.95229	D	0.014559	0.12369	T	0.0434399	0.57493	T	-0.175378	0.56950	T	0.409368932247162	0.29294	T	0.50185	0.15733	T	0.15883717	0.35713	0.3196626	0.57926	0.15883717	0.35713	0.3196626	0.57925	-8.228	0.62613	D	.	.	0.367	0.57671	A	.	.	4.816703	0.78413	26.9	0.99393197159156277	0.62428	0.20430	0.21038	N	AEFDBCI	0.172940	0.29999	N	-0.130149678237329	0.36085	2.081029	-0.337909490913937	0.26886	1.488007	0.999995467898346	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.27	3.27	0.36580	3.085000	0.49849	1.474000	0.26774	0.480000	0.22105	0.737000	0.28995	0.023000	0.20922	0.139000	0.19909	0.0:0.8962:0.0:0.1038	10.582	0.44449	911	0.21964	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1000.43	34	chr10	124447668	.	C	T	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.13;SOR=0.643	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1012,0,671	9	0	1	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	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,25:114:99:0|1:124989533_G_A:632,0,3612:124989533	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:95,18:113:99:235,0,3200	1	0	9	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,20:141:99:0|1:124994489_T_G:476,0,4994:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,25:148:99:0|1:124994489_T_G:679,0,5089:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,27:149:99:0|1:124994489_T_G:735,0,5021:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,36:155:99:0|1:124994523_G_A:1060,0,4758:124994523	0	0	10	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	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:107,38:145:99:688,0,2961	0	0	9	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	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:108,41:149:99:597,0,3093	1	0	9	0
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	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,46:163:99:0|1:124994577_C_A:1558,0,4683:124994577	0	0	10	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.3571	1004.29	183	chr10	124998077	.	C	G	1004.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.613;DP=1900;ExcessHet=2.8389;FS=16.906;InbreedingCoeff=-0.4814;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.775;QD=1.13;ReadPosRankSum=0.514;SOR=2.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,10:136:41:0|1:124998077_C_G:41,0,5215:124998077	2	0	5	3
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.3571	971.29	186	chr10	124998080	.	G	C	971.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.672;DP=1891;ExcessHet=2.8389;FS=14.731;InbreedingCoeff=-0.4812;MLEAC=6;MLEAF=0.429;MQ=58.72;MQRankSum=-8.749;QD=1.08;ReadPosRankSum=0.762;SOR=2.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,10:135:44:0|1:124998077_C_G:44,0,5214:124998077	2	0	5	3
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	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	.	.	.	.	.	.	.	.	0.3571	995.27	187	chr10	124998087	.	T	C	995.27	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.122;DP=1868;ExcessHet=2.8389;FS=17.019;InbreedingCoeff=-0.4808;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-8.749;QD=1.12;ReadPosRankSum=2.66;SOR=2.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,10:139:32:0|1:124998077_C_G:32,0,5387:124998077	2	0	5	3
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.3571	949.91	192	chr10	124998090	.	G	A	949.91	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.555;DP=1882;ExcessHet=2.8389;FS=14.717;InbreedingCoeff=-0.4625;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.697;QD=1.05;ReadPosRankSum=2.21;SOR=2.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,10:143:20:0|1:124998077_C_G:20,0,5514:124998077	2	0	5	3
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	1004.3	197	chr10	124998111	.	A	C	1004.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.527;DP=1890;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3924;MLEAC=5;MLEAF=0.357;MQ=58.74;MQRankSum=-8.929;QD=1.45;ReadPosRankSum=3.72;SOR=2.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,10:138:35:0|1:124998111_A_C:35,0,5318:124998111	3	0	4	3
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	991.72	201	chr10	124998113	.	A	G	991.72	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.497;DP=1880;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.357;MQ=58.73;MQRankSum=-9.005;QD=1.42;ReadPosRankSum=3.57;SOR=2.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,10:138:35:0|1:124998111_A_C:35,0,5318:124998111	3	0	4	3
chr10	124998155	124998155	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A578G:p.N193S,CTBP2:NM_022802:exon4:c.A1994G:p.N665S,CTBP2:NM_001321013:exon5:c.A374G:p.N125S,CTBP2:NM_001083914:exon6:c.A374G:p.N125S,CTBP2:NM_001290214:exon6:c.A374G:p.N125S,CTBP2:NM_001290215:exon6:c.A374G:p.N125S,CTBP2:NM_001321012:exon6:c.A374G:p.N125S,CTBP2:NM_001321014:exon6:c.A374G:p.N125S,CTBP2:NM_001329:exon6:c.A374G:p.N125S	.	419	1085	14	4	0	22	0.0100365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.208769283267	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs75044667	1.374e-06	1.368e-06	2.732e-06	0	2.99e-05	2.3e-07	9e-08	.	.	2.99e-05	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.57480	D	0.022	0.58613	D	0.096	0.49025	B	0.081	0.54017	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.6	0.40776	L	-2.22	0.87038	D	-4.59	0.80085	D	0.972	0.98840	0.703	0.93209	D	0.755	0.91668	D	10	0.94003713	0.93330	D	0.208769	0.87164	D	0.784	0.92827	0.8	0.91946	0.820527500449	0.81883	0.9489215806514542	0.94875	1.33269775663	0.83674	0.757551014423	0.75565	T	0.72038	0.92093	D	0.123299	0.66703	D	-0.0606653	0.66286	T	0.993687450885773	0.84585	D	0.930707	0.74322	D	0.82816064	0.85776	0.72184896	0.83575	0.82816064	0.85777	0.72184896	0.83576	-11.156	0.85098	D	.	.	0.300	0.53001	B	.;.;.;.;.;.	.;.;.;.;.;.	4.333735	0.66432	25.0	0.99583134137918528	0.73159	0.90410	0.51563	D	AEFDGBCI	0.942200	0.94646	D	0.392304765554928	0.61005	4.295956	0.368241936699206	0.59616	4.140763	0.99999999999087	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.670000	0.82907	7.800000	0.69123	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:0.0:1.0	14.522	0.67442	928	0.17405	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	84.45	189	chr10	124998155	.	T	C	84.45	.	AC=1;AF=0.5;AN=2;BaseQRankSum=1.5;DP=1736;ExcessHet=0;FS=7.005;InbreedingCoeff=-0.3793;MLEAC=2;MLEAF=1;MQ=58.65;MQRankSum=-9.027;QD=0.7;ReadPosRankSum=-2.142;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,10:121:86:0|1:124998145_A_G:86,0,4623:124998145	0	0	1	9
chr10	124998169	124998169	-	TCGAGCTCG	exonic	CTBP2	.	nonframeshift insertion	CTBP2:NM_001363508:exon4:c.563_564insCGAGCTCGA:p.G188_I189insELE,CTBP2:NM_022802:exon4:c.1979_1980insCGAGCTCGA:p.G660_I661insELE,CTBP2:NM_001321013:exon5:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001083914:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001290214:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001290215:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001321012:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001321014:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001329:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	104.39	172	chr10	124998169	.	T	TTCGAGCTCG	104.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=1332;ExcessHet=0;FS=7.196;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.11;MQRankSum=-8.629;QD=0.94;ReadPosRankSum=-3.88;SOR=1.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,10:111:99:0|1:124998145_A_G:116,0,4211:124998145	9	0	1	0
chr10	124998171	124998171	-	AGCAGCCTTGATGGCCACGT	splicing	CTBP2	NM_001290214:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001321013:exon5:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001329:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001290215:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001321012:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001321014:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001083914:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001363508:exon4:c.563-1->ACGTGGCCATCAAGGCTGCT;NM_022802:exon4:c.1979-1->ACGTGGCCATCAAGGCTGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	107.39	172	chr10	124998171	.	C	CAGCAGCCTTGATGGCCACGT	107.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=1299;ExcessHet=0;FS=7.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.11;MQRankSum=-8.589;QD=0.98;ReadPosRankSum=-3.237;SOR=1.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,10:110:99:0|1:124998145_A_G:119,0,4169:124998145	9	0	1	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	391.26	71	chr10	125003006	.	T	C	391.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.859;DP=1251;ExcessHet=0.7463;FS=1.556;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-7.525;QD=1.15;ReadPosRankSum=0.028;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,12:88:99:0|1:125003006_T_C:275,0,3126:125003006	5	0	2	3
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	345.43	71	chr10	125003008	.	T	C	345.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.162;DP=1245;ExcessHet=0.7463;FS=1.552;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.72;MQRankSum=-7.525;QD=1.01;ReadPosRankSum=0.105;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,12:89:99:0|1:125003006_T_C:272,0,3158:125003006	5	0	2	3
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	366.43	71	chr10	125003010	.	C	T	366.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.846;DP=1243;ExcessHet=0.7463;FS=1.56;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.67;MQRankSum=-7.424;QD=1.1;ReadPosRankSum=0.244;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,12:87:99:0|1:125003006_T_C:278,0,3102:125003006	5	0	2	3
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	.	.	.	.	.	.	.	.	0.1429	297.64	71	chr10	125003036	.	C	A	297.64	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.646;DP=1225;ExcessHet=0.2348;FS=8.24;InbreedingCoeff=-0.2455;MLEAC=3;MLEAF=0.214;MQ=57.55;MQRankSum=-7.113;QD=1.48;ReadPosRankSum=1.4;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,12:87:99:0|1:125003036_C_A:238,0,3110:125003036	5	0	2	3
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	.	.	.	.	.	.	.	.	0.2143	467.54	71	chr10	125003062	.	T	A	467.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.847;DP=1240;ExcessHet=0.7463;FS=10.427;InbreedingCoeff=-0.2903;MLEAC=4;MLEAF=0.286;MQ=57.77;MQRankSum=-6.885;QD=1.42;ReadPosRankSum=1.84;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,12:92:99:0|1:125003062_T_A:243,0,3308:125003062	4	0	3	3
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	.	.	.	.	.	.	.	.	0.2143	455.54	71	chr10	125003065	.	T	A	455.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.948;DP=1249;ExcessHet=0.7463;FS=10.458;InbreedingCoeff=-0.2903;MLEAC=4;MLEAF=0.286;MQ=57.8;MQRankSum=-6.885;QD=1.36;ReadPosRankSum=1.85;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,12:95:99:0|1:125003062_T_A:234,0,3373:125003062	4	0	3	3
chr10	127272081	127272081	C	A	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377561:exon30:c.C3115A:p.L1039M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	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	.	.	.	.	.	.	.	.	0.5	44.51	.	chr10	127272081	.	C	A	44.51	.	AC=2;AF=0.5;AN=4;DP=3;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=60;QD=22.26;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	1	0	8
chr11	320654	320654	C	T	exonic	IFITM3	.	nonsynonymous SNV	IFITM3:NM_021034:exon1:c.G160A:p.V54M	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	8e-05	0.00199681	0.0005	0	0	0.0002	0	2.999e-05	0	0.0038	0.0004916	76	154602	rs371741630	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0003	0.0039	0.0037	2.988e-05	4.473e-05	0	2.519e-05	0	0.0002	1.889e-05	0.0004	0.0042	0.0002	0.0002	5.142e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	2.407e-05	0	0	0	0.0002	0	0	0	0.0005	0.0048	0.132	0.27426	T	0.14	0.33554	T	0.965	0.56013	D	0.56	0.49558	P	0.299745	0.14619	U	0.510663	1	0.08975	N	2	0.54354	M	-2.21	0.86963	D	-2.27	0.50666	N	0.276	0.31253	-0.4208	0.71366	T	0.513	0.81738	D	10	0.009066105	0.00205	T	.	.	.	0.228	0.52768	.	.	0.795337927208	0.79343	0.4469708034514509	0.44615	0.850721912871	0.68518	0.468272745609	0.34443	T	0.041238	0.25791	T	-0.355588	0.04386	T	-0.283698	0.46423	T	0.0667627902541215	0.08189	T	0.683132	0.33029	T	0.03931121	0.05404	0.056374636	0.10060	0.03931121	0.05404	0.056374636	0.10059	-7.977	0.60913	D	.	.	0.189	0.40634	B	.;.;.	.;.;.	1.926768	0.24471	16.41	0.99651593308903363	0.77317	0.28662	0.23615	N	AEFDGBHCI	0.347751	0.44212	N	-0.313580967084405	0.28631	1.580844	-0.456851136347488	0.23354	1.273176	0.999999969230419	0.74766	0.733237	0.96898	0	0.698795	0.70079	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.65	1.59	0.22622	-0.200000	0.09480	-5.122000	0.01840	-0.236000	0.07595	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.6221:0.1773:0.2006	4.787	0.12600	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	0.000535	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1009.43	35	chr11	320654	.	C	T	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.229;DP=609;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.4;MQRankSum=4.46;QD=6.47;ReadPosRankSum=-1.663;SOR=0.64	GT:AD:DP:GQ:PL	0/1:105,51:156:99:1021,0,2775	9	0	1	0
chr11	557577	557577	C	T	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon6:c.G619A:p.G207R	.	420	1070	32	0	0	32	0.014733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0064	0.00459265	0.0081	0.0012	0.0082	0	0.0092	0.0093	0.0157	0.0113	0.0073156	1131	154602	rs146558617	0.0073	0.0073	0.0071	0.0075	0.0128	0.0072	0.0071	0.0105	0.0099	0.0010	0.0083	0.0223	5.038e-05	0.0098	0.0128	0.0069	0.0088	0.0107	0.0064	0.0064	0.0064	0.0064	0.0099	0.0061	0.0060	0.0077	0.0072	0.0013	0.0351	0.0084	0.0233	0.0002	0.0064	0.0136	0.0080	0.0114	0.0099	0.002	0.72154	D	0.015	0.63109	D	0.946	0.53363	P	0.161	0.34794	B	0.018548	0.27457	N	0.173210	0.999998	0.08975	N	.	.	.	1.41	0.33412	T	-2.3	0.85176	N	0.121	0.11197	-1.0076	0.27665	T	0.022	0.09467	T	10	0.005467713	0.00121	T	.	.	.	0.091	0.26358	0.354	0.35408	0.225902525712	0.22197	0.06019222766670781	0.05959	0.275229983008	0.30008	.	.	.	0.080284	0.49475	T	-0.43361	0.01410	T	-0.387665	0.34825	T	0.0278891819996309	0.01672	T	0.563244	0.22338	T	0.2105108	0.43349	0.13528605	0.32396	0.2105108	0.43349	0.13528605	0.32395	-5.67	0.43426	T	.	.	0.172	0.43032	B	.;.;.	.;.;.	1.168851	0.15586	11.96	0.99682241622075607	0.79307	0.05612	0.11518	N	AEFDBHCI	0.070202	0.13927	N	-0.629860665608247	0.18051	0.9340888	-0.759994477755599	0.15477	0.8141813	0.999999484550485	0.74766	0.676563	0.55306	0	0.958517	0.99986	0	0.493711	0.08198	1	0.620976	0.48614	0	.	.	3.2	0.175	0.14330	-4.228000	0.00307	-1.193000	0.06063	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.130000	0.19568	0.0:0.4803:0.2574:0.2623	3.435	0.07012	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010585	0.005051	0.008174	0.014620	0.050000	0.008621	0.015244	0.011450	0.05	1702.43	41	chr11	557577	.	C	T	1702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=473;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.948;SOR=0.85	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1714,0,1387	9	0	1	0
chr11	865532	865532	A	G	exonic	TSPAN4	.	nonsynonymous SNV	TSPAN4:NM_001025238:exon5:c.A350G:p.Q117R,TSPAN4:NM_001025239:exon5:c.A158G:p.Q53R,TSPAN4:NM_001025234:exon6:c.A350G:p.Q117R,TSPAN4:NM_001025235:exon6:c.A350G:p.Q117R,TSPAN4:NM_001025236:exon6:c.A350G:p.Q117R,TSPAN4:NM_001025237:exon6:c.A350G:p.Q117R,TSPAN4:NM_003271:exon6:c.A350G:p.Q117R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0512619279359	.	0.00119808	0.0013	0	8.84e-05	0	0	0	0	0.0092	0.001022	158	154602	rs535155860	0.0005	0.0005	0.0003	0.0008	0.0086	0.0005	0.0005	0.0081	0.0079	2.99e-05	0	0	0	0	0.0004	7.195e-06	0.0006	0.0086	0.0003	0.0003	5.143e-05	0.0005	0.0077	0.0002	0.0002	0.0057	0.0050	2.407e-05	0	6.539e-05	0	0	0	0	0	0	0.0077	0.469	0.09101	T	0.631	0.11725	T	0.0	0.02946	B	0.001	0.04355	B	0.609585	0.05693	N	1.200410	1	0.81001	D	0.66	0.16226	N	-2.21	0.86963	D	-0.8	0.30140	N	0.171	0.18920	-0.7489	0.57993	T	0.399	0.75081	T	10	0.0052879453	0.00116	T	0.051262	0.64589	D	0.265	0.57870	0.389	0.41115	0.36355261348	0.35965	0.580396208085068	0.57968	0.0696345620338	0.07791	0.208681613207	0.00756	T	0.128496	0.45619	T	-0.429552	0.01492	T	-0.382691	0.35406	T	0.0109734640174461	0.00158	T	0.0337966	0.00443	T	0.0380582	0.04999	0.041787915	0.04830	0.0380582	0.04999	0.041787915	0.04829	-5.886	0.45316	T	.	.	0.091	0.21201	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	-0.194403	0.03119	0.498	0.66788478004336771	0.08161	0.07544	0.13556	N	AEFDBHCI	0.156317	0.28166	N	-1.68297741025994	0.00904	0.039115	-1.69028711744973	0.01181	0.0531429	0.998380090698305	0.36869	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.711	0.71501	0	.	.	3.28	-3.86	0.03951	-0.192000	0.09585	-0.795000	0.07398	-1.109000	0.01494	0.000000	0.06391	0.000000	0.08366	0.950000	0.49671	0.6497:0.0:0.3503:0.0	10.029	0.41262	878	0.29785	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1199.43	36	chr11	865532	.	A	G	1199.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.889;DP=502;ExcessHet=0;FS=5.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.501;SOR=1.445	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1211,0,985	9	0	1	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	39763.3	756	chr11	1017464	.	T	*	39763.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.02;DP=6499;ExcessHet=22.563;FS=0.565;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.69;MQRankSum=-13.34;QD=6.24;ReadPosRankSum=3.18;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	9	0	1	0
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	30729.3	767	chr11	1017466	.	T	*	30729.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=6481;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.72;MQRankSum=-12.72;QD=4.75;ReadPosRankSum=3.1;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	9	0	1	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1823.75	750	chr11	1017467	.	G	*	1823.75	.	AC=1;AF=0.056;AN=18;BaseQRankSum=4.56;DP=6427;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3817;MLEAC=1;MLEAF=0.056;MQ=55.72;MQRankSum=-3.342;QD=0.57;ReadPosRankSum=-1.226;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	8	0	1	1
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	55257.9	768	chr11	1017470	.	G	*	55257.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=6495;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.74;MQRankSum=-13.13;QD=8.61;ReadPosRankSum=3.65;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	9	0	1	0
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1847.45	744	chr11	1017471	.	C	*	1847.45	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.946;DP=6380;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.1;MQ=55.91;MQRankSum=-7.165;QD=0.57;ReadPosRankSum=2.72;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	8	0	2	0
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	9099.93	769	chr11	1017474	.	G	*	9099.93	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.862;DP=6521;ExcessHet=22.563;FS=1.995;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.73;MQRankSum=-6.15;QD=1.41;ReadPosRankSum=1.48;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	9	0	1	0
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	141.74	751	chr11	1017475	.	T	*	141.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.75;DP=6320;ExcessHet=0.7463;FS=3.013;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=56.57;MQRankSum=-4.029;QD=0.08;ReadPosRankSum=5.58;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	8	0	2	0
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	48322.9	779	chr11	1017483	.	T	*	48322.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.08;DP=6482;ExcessHet=22.563;FS=0.613;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.76;MQRankSum=-13.63;QD=7.54;ReadPosRankSum=4.3;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	9	0	1	0
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2945.58	785	chr11	1017485	.	G	*	2945.58	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.77;DP=6403;ExcessHet=4.5998;FS=2.898;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.063;MQ=55.3;MQRankSum=-9.479;QD=0.76;ReadPosRankSum=7.4;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	7	0	1	2
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4396.34	754	chr11	1017489	.	G	*	4396.34	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.05;DP=6420;ExcessHet=7.0302;FS=0.933;InbreedingCoeff=-0.4999;MLEAC=1;MLEAF=0.05;MQ=55.85;MQRankSum=-7.083;QD=1.03;ReadPosRankSum=0.275;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	9	0	1	0
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	7967.54	798	chr11	1017495	.	ATGC	*	7967.54	.	AC=1;AF=0.056;AN=18;BaseQRankSum=4.48;DP=6510;ExcessHet=15.1594;FS=3.238;InbreedingCoeff=-0.9015;MLEAC=1;MLEAF=0.056;MQ=55.67;MQRankSum=-9.696;QD=1.32;ReadPosRankSum=8.08;SOR=1.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,79:693:99:0|1:1017421_G_T:1471,0,25229:1017421	8	0	1	1
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	18226.3	780	chr11	1017498	.	C	*	18226.3	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.519;DP=6053;ExcessHet=15.1594;FS=1.126;InbreedingCoeff=-0.9048;MLEAC=1;MLEAF=0.056;MQ=55.85;MQRankSum=-18.42;QD=3.3;ReadPosRankSum=5.53;SOR=0.586	GT:AD:DP:GQ:PL	0/1:244,70:318:99:2201,0,10395	8	0	1	1
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	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	.	.	.	.	.	.	.	.	0.1	3736.16	416	chr11	1017891	.	G	T	3736.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.622;DP=4792;ExcessHet=0.7463;FS=3.94;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=55.73;MQRankSum=-8.448;QD=2.27;ReadPosRankSum=0.23;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:435,74:527:99:.:.:1696,0,17864:.	8	0	2	0
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	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	.	.	.	.	.	.	.	.	0.1	97.14	342	chr11	1017980	.	G	C	97.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.8;DP=3777;ExcessHet=0.2348;FS=17.339;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.62;MQRankSum=-4.684;QD=0.18;ReadPosRankSum=-2.834;SOR=3.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:268,20:288:33:.:.:33,0,11182:.	8	0	2	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.85	245	chr11	1018228	.	G	*	468.85	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.67;DP=2185;ExcessHet=7.0302;FS=18.309;InbreedingCoeff=-0.5385;MLEAC=5;MLEAF=0.25;MQ=56.96;MQRankSum=-9.438;QD=0.31;ReadPosRankSum=-2.147;SOR=2.537	GT:AD:DP:GQ:PL	0/1:183,22:225:75:352,0,7878	5	0	5	0
chr11	1088425	1088425	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0.0002	0	6.52e-05	0	0.0017	0.0001876	29	154602	rs568913498	0.0001	0.0001	6.012e-05	0.0002	0.0016	9.132e-05	8.636e-05	0.0014	0.0013	2.993e-05	0	0	0	1.944e-05	0.0002	5.408e-06	9.985e-05	0.0016	0.0001	0.0001	8.994e-05	0.0001	0.0023	7.086e-05	5.743e-05	0.0013	0.0010	0.0001	0	0	0	0	0	0	0	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1145.43	37	chr11	1088425	.	G	A	1145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.184;DP=417;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.35;SOR=0.883	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1157,0,1199	9	0	1	0
chr11	1095030	1095030	-	T	exonic	MUC2	.	unknown	UNKNOWN	.	981	540	1	0	0	1	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0004	0.0004	0.0007	0.0004	0.0003	0.0005	0.0004	0.0004	0.0003	0.0003	0.0007	0.0027	0.0003	0.0002	0.0005	0.0006	0.0060	0.0082	0.0059	0.0062	0.0072	0.0057	0.0056	0.0067	0.0064	0.0039	0	0.0059	0.0032	0.0039	0.0102	0.0035	0.0072	0.0067	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	60.41	31	chr11	1095030	.	C	CT	60.41	.	AC=1;AF=0.05;AN=20;DP=349;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=52.25;MQRankSum=0.842;QD=10.07;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:1094981_C_T:72,0,162:1094981	9	0	1	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	582.16	190	chr11	1096155	.	C	*	582.16	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.891;DP=5240;ExcessHet=8.3924;FS=0.551;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.333;MQ=55.84;MQRankSum=-3.048;QD=0.26;ReadPosRankSum=-4.847;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:394,94:488:99:.:.:2693,0,15338:.	3	0	6	1
chr11	1096261	1096261	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325006662	0.0004	0.0005	0.0003	0.0005	0.0043	0.0004	0.0004	0.0036	0.0034	0.0043	0.0006	0.0015	8.784e-05	0.0002	0.0022	0.0001	0.0009	0.0026	0.0012	0.0014	0.0011	0.0013	0.0032	0.0011	0.0010	0.0028	0.0026	0.0032	0	0.0005	0.0038	0	0	0	0.0003	0.0005	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1913.43	234	chr11	1096261	.	C	T	1913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.17;DP=3590;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.97;MQRankSum=3.91;QD=4.05;ReadPosRankSum=-0.521;SOR=0.748	GT:AD:DP:GQ:PL	0/1:360,113:473:99:1925,0,10425	9	0	1	0
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	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	.	.	.	.	.	.	.	.	0.125	44.41	21	chr11	1096743	.	T	C	44.41	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.96;DP=294;ExcessHet=0.2348;FS=25.21;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=51.86;MQRankSum=-2.738;QD=0.87;ReadPosRankSum=-1.425;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,3:24:51:0|1:1096735_G_A:51,0,815:1096735	3	0	1	6
chr11	1097057	1097057	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	692	829	1	0	0	1	0.000602773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447147746	0.0020	0.0038	0.0019	0.0021	0.0023	0.0019	0.0019	0.0021	0.0021	0.0019	0.0010	0.0010	0.0011	0.0040	0.0004	0.0023	0.0017	0.0012	0.0007	0.0017	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0005	0	0.0006	0	0.0004	0.0006	0	0.0010	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	123.43	60	chr11	1097057	.	A	G	123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.057;DP=839;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.36;MQRankSum=0.74;QD=1.54;ReadPosRankSum=0.62;SOR=1.24	GT:AD:DP:GQ:PL	0/1:64,16:80:99:135,0,1827	9	0	1	0
chr11	1097253	1097253	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	638	875	8	0	1	9	0.00455063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0298371299834	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179715210	0.0027	0.0052	0.0027	0.0027	0.0097	0.0026	0.0025	0.0086	0.0082	0.0097	0.0029	0.0052	0.0069	0.0056	0.0037	0.0021	0.0053	0.0006	0.0033	0.0072	0.0031	0.0035	0.0093	0.0030	0.0029	0.0064	0.0054	0.0054	0.0016	0.0015	0.0033	0.0093	0.0024	0	0.0023	0.0023	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015856	0.005319	0.027523	0.015152	0.000000	0.075000	0.019231	0.009804	0.15	876.45	74	chr11	1097253	.	C	A	876.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.965;DP=2442;ExcessHet=0.7463;FS=4.605;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=38.84;MQRankSum=-1.552;QD=0.89;ReadPosRankSum=-2.798;SOR=1.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,47:323:99:0|1:1097253_C_A:560,0,10917:1097253	7	0	3	0
chr11	1226857	1226857	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon4:c.G442A:p.V148I	.	419	1075	27	1	0	29	0.0133089	.	.	.	175096	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0073	0.00499201	0.0102	0.0026	0.0071	0	0.0160	0.0130	0.0112	0.0082	0.0091849	1420	154602	rs56293203	0.0099	0.0099	0.0097	0.0102	0.0248	0.0098	0.0097	0.0215	0.0202	0.0020	0.0060	0.0079	5.04e-05	0.0168	0.0248	0.0106	0.0085	0.0075	0.0084	0.0084	0.0083	0.0084	0.0120	0.0080	0.0078	0.0113	0.0110	0.0021	0.0022	0.0071	0.0058	0	0.0166	0.0137	0.0120	0.0152	0.0066	0.162	0.23541	T	.	.	.	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	0.999997	0.08975	N	1.085	0.27262	L	-0.29	0.67712	T	-0.73	0.20576	N	0.115	0.10340	-0.7727	0.56709	T	0.170	0.51020	T	9	0.0045601726	0.00095	T	.	.	.	0.162	0.41843	.	.	0.117191471859	0.11215	0.5773453042548944	0.57663	.	.	0.247350245714	0.03494	T	0.020929	0.16390	T	-0.548187	0.00299	T	-0.548533	0.17466	T	0.00244819744290527	0.00025	T	0.528347	0.17454	T	0.046239134	0.07704	0.09315256	0.21988	0.046239134	0.07704	0.09315256	0.21988	-6.032	0.46546	T	.	.	0.067	0.02458	B	.	.	0.349301	0.07226	3.820	0.57689718243420318	0.05825	0.04088	0.09549	N	AEFDBCI	0.081998	0.16599	N	-1.14863621935008	0.05802	0.2654677	-1.33051783104018	0.04041	0.189778	0.0210642125102472	0.13316	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.691587	0.68394	0	.	.	3.68	-3.73	0.04112	-0.180000	0.09747	-1.728000	0.04836	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.462:0.0:0.538:0.0	11.339	0.48763	964	0.07719	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	RASSF7	Spleen	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020182	0.015152	0.020492	0.035088	0.000000	0.051724	0.015337	0.007576	0.05	1184.43	36	chr11	1226857	.	G	A	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.075;DP=423;ExcessHet=0;FS=6.15;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=0.737;SOR=0.192	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1196,0,910	9	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	354.06	81	chr11	4488904	.	C	T	354.06	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.926;DP=903;ExcessHet=2.8389;FS=192.49;InbreedingCoeff=-0.3214;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.25;SOR=11.326	GT:AD:DP:GQ:PL	0/1:29,18:63:16:65,0,410	7	0	3	0
chr11	5403455	5403455	C	G	exonic	OR51J1	.	nonsynonymous SNV	OR51J1:NM_001348224:exon1:c.C859G:p.P287A	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00602851237431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.394e-06	4.771e-06	7.195e-06	1.109e-05	3.348e-05	2.5e-06	6.9e-07	5.55e-06	2.08e-06	0	0	0	0	0	0	0	6.907e-05	3.348e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1878.43	172	chr11	5403455	.	C	G	1878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.282;DP=936;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.607;SOR=0.738	GT:AD:DP:GQ:PL	0/1:88,81:169:99:1890,0,2199	9	0	1	0
chr11	5737265	5737265	G	C	exonic	OR56B1	.	nonsynonymous SNV	OR56B1:NM_001005180:exon1:c.G749C:p.C250S	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0197760102374	.	0.000399361	0.0009	0	0	0	0	0	0	0.0069	0.0007568	117	154602	rs374174730	0.0005	0.0005	0.0002	0.0007	0.0077	0.0004	0.0004	0.0072	0.0070	0	0	0	0	0	0.0002	2.698e-06	0.0004	0.0077	0.0002	0.0002	6.423e-05	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0	0.0056	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.967	0.71530	D	0.000391	0.44960	U	0.000000	1	0.81001	D	4.07	0.97156	H	7.74	0.00341	T	-9.7	0.98602	D	0.753	0.75192	-1.0436	0.16236	T	0.006	0.02055	T	10	0.03259206	0.01414	T	0.019776	0.42228	T	0.336	0.65816	0.694	0.83126	0.608821576771	0.60568	0.2114002379579671	0.21056	.	.	0.337773084641	0.16105	T	0.014623	0.12415	T	-0.218811	0.18155	T	-0.0827987	0.64699	T	0.474219232797623	0.31686	T	0.941706	0.78221	D	0.9784799	0.98991	0.96147174	0.99050	0.9784799	0.98991	0.96147174	0.99051	-8.593	0.65043	D	.	.	0.441	0.61775	A	.	.	3.816588	0.55084	23.6	0.99399783309897893	0.62748	0.99055	0.90567	D	AEFDGBIJ	0.854131	0.77114	D	0.992846607394936	0.95520	13.69892	0.902100741872502	0.95662	13.84192	0.999999970192333	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.87	5.87	0.94266	6.581000	0.73936	.	.	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:0.0:1.0:0.0	17.703	0.88205	823	0.40596	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1748.43	40	chr11	5737265	.	G	C	1748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.05;DP=589;ExcessHet=0;FS=1.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.585;SOR=0.814	GT:AD:DP:GQ:PL	0/1:82,68:150:99:1760,0,2274	9	0	1	0
chr11	6240398	6240398	G	A	exonic	CNGA4	.	nonsynonymous SNV	CNGA4:NM_001037329:exon4:c.G604A:p.V202M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.918	0.392595584178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.001	0.83351	D	0.991	0.64070	D	0.876	0.62173	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.12	0.87914	M	-4.96	0.98448	D	-2.87	0.60348	D	0.864	0.86085	1.096	0.99507	D	0.968	0.98989	D	10	0.9516778	0.94507	D	0.392596	0.93222	D	0.918	0.97890	0.773	0.89924	0.97398896493	0.97371	0.8931930134694763	0.89289	0.876461732327	0.69595	0.685285389423	0.65029	T	0.730065	0.92438	D	0.383561	0.88936	D	0.313182	0.88797	D	0.984066486358643	0.75504	D	0.986701	0.95453	D	0.32884476	0.55376	0.3131636	0.57315	0.32884476	0.55376	0.3131636	0.57315	-9.11	0.68401	D	.	.	0.859	0.80238	P	.	.	4.665768	0.74522	26.2	0.99892804565122661	0.96666	0.98932	0.88807	D	AEFDBI	0.920765	0.89323	D	0.899463011847162	0.91732	11.03566	0.822110849240832	0.91286	10.811	0.999999999998408	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.25	5.25	0.73169	9.602000	0.97623	11.882000	0.98861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.286000	0.24163	0.0:0.0:1.0:0.0	17.760	0.88371	474	0.77851	Ion transport 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	.	.	.	.	.	.	.	.	0.05	1443.43	36	chr11	6240398	.	G	A	1443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.533;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.3;SOR=0.647	GT:AD:DP:GQ:PL	0/1:75,63:138:99:1455,0,1827	9	0	1	0
chr11	6571721	6571721	T	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon43:c.T13997C:p.I4666T	.	426	1064	32	0	0	32	0.0148148	.	.	.	612918	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00242048950287	0.0059	0.00199681	0.0061	0.0018	0.0051	0	0.0017	0.0091	0.0054	0.0019	0.005181	801	154602	rs11604362	0.0062	0.0062	0.0062	0.0062	0.0253	0.0061	0.0061	0.0220	0.0207	0.0016	0.0058	0.0083	0	0.0016	0.0253	0.0070	0.0066	0.0016	0.0046	0.0046	0.0052	0.0040	0.0068	0.0043	0.0042	0.0063	0.0061	0.0016	0.0340	0.0050	0.0072	0	0.0007	0.0308	0.0068	0.0086	0.0010	0.328	0.13219	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.286257	0.03865	N	1.500610	1	0.08975	N	1.04	0.26193	L	3.19	0.07353	T	0.85	0.01736	N	0.108	0.09914	-0.9586	0.39442	T	0.005	0.01578	T	10	0.0035536885	0.00064	T	0.00242	0.04757	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.2379967463452294	0.23713	0.148820726089	0.16780	0.2791274786	0.07370	T	0.004595	0.03998	T	-0.689082	0.00042	T	-0.757749	0.03194	T	6.56141346553341e-05	0.00001	T	0.382862	0.09330	T	0.025150282	0.01421	0.037576307	0.03441	0.025150282	0.01421	0.037576307	0.03440	-1.741	0.02339	T	.	.	0.092	0.13644	B	.;.	.;.	-0.464050	0.01986	0.174	0.63889802075881286	0.07344	0.02995	0.07855	N	AEFDGBHCI	0.017310	0.00445	N	-1.45185825977806	0.02202	0.09697423	-1.37140251439273	0.03560	0.166304	0.999925422565124	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.505578	0.09266	0	0.664235	0.64389	0	.	.	4.75	-0.827	0.10256	-0.708000	0.05138	-0.500000	0.08808	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.3386:0.1861:0.0:0.4753	3.778	0.08189	425	0.81160	Dynein heavy chain domain;Dynein heavy chain 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	0.023666	0.015152	0.020380	0.064327	0.050000	0.017241	0.009146	0.003788	0.05	878.43	38	chr11	6571721	.	T	C	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=410;ExcessHet=0;FS=3.028;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.589;SOR=0.423	GT:AD:DP:GQ:PL	0/1:47,34:81:99:890,0,1211	9	0	1	0
chr11	6633550	6633550	T	G	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon5:c.A2317C:p.S773R	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00637290447137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	2.736e-06	1.379e-06	4.207e-06	0.0002	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.727e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.06913	T	0.004	0.74150	D	0.0	0.02946	B	0.001	0.04355	B	0.065195	0.21899	N	0.388509	0.600237	0.30947	N	0.75	0.19020	N	0.73	0.50721	T	-1.54	0.37375	N	0.291	0.32921	-1.0202	0.23649	T	0.071	0.28969	T	10	0.11606255	0.21883	T	0.006373	0.16754	T	0.121	0.33580	0.513	0.61153	0.143184338766	0.13958	0.3658653595494536	0.36500	0.322906376399	0.34462	0.43632465601	0.30075	T	0.137501	0.47048	T	-0.117346	0.33559	T	-0.406336	0.32650	T	0.5878986120224	0.35924	D	0.680032	0.28847	T	0.28290436	0.51325	0.1584029	0.36993	0.28290436	0.51325	0.1584029	0.36992	-3.497	0.16389	T	.	.	0.179	0.38941	B	.	.	2.876999	0.38057	20.6	0.98116991345624571	0.38399	0.98077	0.79403	D	AEFDGBIJ	0.612606	0.60061	D	-0.231537252455909	0.31845	1.789863	-0.0091787975305978	0.39298	2.327984	0.999999991355948	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	5.527000	0.66837	1.998000	0.30109	0.665000	0.62972	1.000000	0.71638	0.994000	0.32194	0.987000	0.62547	0.0:0.0:0.0:1.0	12.577	0.55719	231	0.90996	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	987.43	35	chr11	6633550	.	T	G	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.754;DP=443;ExcessHet=0;FS=1.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.098;SOR=0.902	GT:AD:DP:GQ:PL	0/1:48,44:92:99:999,0,1185	9	0	1	0
chr11	8434191	8434191	T	G	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001352396:exon12:c.A1076C:p.H359P,STK33:NM_001352397:exon12:c.A1076C:p.H359P,STK33:NM_001352398:exon13:c.A1076C:p.H359P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	63.46	2	chr11	8434191	.	T	G	63.46	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.834;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:8434191_T_G:72,0,162:8434191	7	0	1	2
chr11	8434206	8434206	T	C	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001352396:exon12:c.A1061G:p.D354G,STK33:NM_001352397:exon12:c.A1061G:p.D354G,STK33:NM_001352398:exon13:c.A1061G:p.D354G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341672841	0.0002	5.725e-05	0.0001	0.0003	0.0002	9.393e-05	6.409e-05	7.674e-05	4.647e-05	0	0	0.0010	0	0	0	0.0002	0	0.0002	0	2.082e-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	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	63.47	2	chr11	8434206	.	T	C	63.47	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.834;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:8434191_T_G:72,0,162:8434191	7	0	1	2
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	281.74	73	chr11	10559867	.	G	A	281.74	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.365;DP=886;ExcessHet=1.5895;FS=223.429;InbreedingCoeff=-0.333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.159;SOR=9.766	GT:AD:DP:GQ:PL	0/1:90,37:127:98:98,0,1516	4	0	4	2
chr11	10779032	10779032	A	G	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.A3377G:p.E1126G,CTR9:NM_014633:exon25:c.A3449G:p.E1150G	.	430	1081	11	0	0	11	0.00506213	.	.	.	1156557	CTR9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00735543223924	0.0009	0.00159744	0.0013	0.0010	0.0022	0	0	0.0017	0.0022	0.0004	0.001313	203	154602	rs35023148	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0167	0.0156	0.0024	0.0029	0.0036	0	3.745e-05	0.0196	0.0009	0.0028	0.0004	0.0014	0.0014	0.0014	0.0014	0.0035	0.0013	0.0012	0.0027	0.0025	0.0009	0	0.0035	0.0026	0	0	0.0272	0.0014	0.0052	0.0004	0.191	0.21066	T	0.292	0.20877	T	0.0	0.02946	B	0.0	0.01387	B	0.000286	0.46274	D	0.251882	0.991945	0.41514	D	-0.46	0.02758	N	0.88	0.46028	T	0.1	0.05810	N	0.074	0.04790	-1.0621	0.11239	T	0.060	0.25018	T	10	0.007390231	0.00168	T	0.007355	0.19496	T	0.064	0.18567	.	.	0.279809986126	0.27602	0.12262613186542184	0.12188	0.284446444391	0.30868	0.429881513119	0.29193	T	0.038339	0.24803	T	-0.575505	0.00205	T	-0.6025	0.12602	T	0.0297061090305804	0.01944	T	0.814918	0.46941	T	0.06224066	0.12979	0.073870316	0.16098	0.06224066	0.12978	0.073870316	0.16098	-1.858	0.02688	T	.	.	0.060	0.00979	B	.	.	3.349515	0.46190	22.3	0.99559095297850686	0.71645	0.86493	0.45784	D	AEFBHCI	0.296098	0.40603	N	-0.339572229449747	0.27658	1.519175	-0.163911623868024	0.32876	1.874814	0.999999995954585	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	4.495000	0.60074	11.273000	0.91473	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.9279:0.0:0.0721:0.0	11.040	0.47042	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	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	0.026183	0.050505	0.028533	0.046784	0.000000	0.034483	0.009146	0.003788	0.05	995.43	35	chr11	10779032	.	A	G	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.107;DP=368;ExcessHet=0;FS=5.332;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.022;SOR=0.731	GT:AD:DP:GQ:PL	0/1:23,39:62:99:1007,0,568	9	0	1	0
chr11	18285431	18285431	A	G	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon19:c.T2524C:p.Y842H,HPS5:NM_181508:exon19:c.T2524C:p.Y842H,HPS5:NM_181507:exon20:c.T2866C:p.Y956H	Hermansky-Pudlak syndrome 5	2	1506	12	2	0	16	0.00528402	.	.	.	429220	Hermansky-Pudlak_syndrome_5|not_provided|not_specified|HPS5-related_disorder	MONDO:MONDO:0013557,MedGen:C3888004,OMIM:614074,Orphanet:231512,Orphanet:79430|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.311	0.01686253308	0.0007	0.000199681	0.0007	0	0.0010	0	0	0.0011	0.0011	0.0002	0.0006598	102	154602	rs147430035	0.0006	0.0006	0.0006	0.0006	0.0128	0.0005	0.0005	0.0105	0.0096	0.0002	0.0010	0.0053	0	0	0.0128	0.0004	0.0010	0.0005	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0004	9.62e-05	0	0.0005	0.0063	0	0	0.0068	0.0006	0	0.0002	0.126	0.27194	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.475	0.71894	M	0.52	0.55266	T	-1.35	0.57110	N	0.676	0.72746	-0.4875	0.69097	T	0.327	0.69521	T	10	0.0141662955	0.00298	T	0.016863	0.38312	T	0.311	0.63269	.	.	0.730142393092	0.72774	0.6193711826176054	0.61870	0.383554653902	0.39680	0.665621221066	0.62213	T	0.16206	0.53277	T	-0.155824	0.27404	T	-0.0529544	0.66820	D	0.0630222901789299	0.07636	T	0.928607	0.73726	D	0.22538932	0.45200	0.18101472	0.40938	0.22538932	0.45200	0.18101472	0.40938	-1.714	0.02266	T	.	.	0.473	0.63343	A	.;.;.;.;.	.;.;.;.;.	4.624670	0.73463	26.0	0.99857798657823793	0.93639	0.97527	0.75331	D	AEFBI	0.818814	0.73998	D	0.743020005856918	0.82450	7.765409	0.74312866208741	0.85641	8.642096	0.998768645352015	0.37623	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.83	5.83	0.93059	7.128000	0.76828	11.089000	0.85893	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.200	0.81882	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	0.010081	0.005051	0.012228	0.017647	0.000000	0.008621	0.006098	0.007576	0.1	1882.12	34	chr11	18285431	.	A	G	1882.12	.	AC=2;AF=0.1;AN=20;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.52;SOR=0.754	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1905,198,0	9	1	0	0
chr11	19225795	19225795	A	G	exonic	E2F8	.	nonsynonymous SNV	E2F8:NM_001256371:exon11:c.T1963C:p.S655P,E2F8:NM_001256372:exon11:c.T1963C:p.S655P,E2F8:NM_024680:exon11:c.T1963C:p.S655P	.	.	.	.	.	.	.	.	.	.	.	2389802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00579651125938	.	0.000199681	7.416e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs574624357	5.883e-05	5.883e-05	4.22e-05	7.563e-05	0.0009	4.876e-05	4.496e-05	0.0008	0.0007	0	0	0	0	0	0	8.993e-07	6.623e-05	0.0009	4.599e-05	4.594e-05	5.142e-05	4.03e-05	0.0015	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.371	0.11514	T	0.301	0.20293	T	0.029	0.19866	B	0.023	0.19966	B	0.009907	0.30147	N	0.330567	0.983489	0.24880	N	2.005	0.54552	M	2.17	0.19020	T	1.2	0.01078	N	0.168	0.17828	-1.0055	0.28307	T	0.116	0.41097	T	10	0.016543329	0.00349	T	0.005797	0.15072	T	0.024	0.04979	0.137	0.04097	0.102598925029	0.09809	0.5345000906547198	0.53375	0.181457915209	0.20398	0.475517243147	0.35440	T	0.048119	0.27924	T	-0.467109	0.00886	T	-0.580786	0.14474	T	0.0416804697073515	0.03997	T	0.568943	0.20238	T	0.1270276	0.29737	0.11958049	0.28862	0.1270276	0.29737	0.11958049	0.28861	-3.29	0.13608	T	.	.	0.060	0.00934	B	.;.;.	.;.;.	2.004284	0.25467	16.77	0.94633790645234928	0.25224	0.36581	0.25566	N	AEFBI	0.264682	0.38197	N	-0.0502776540141988	0.39590	2.337118	-0.0341825983667116	0.38181	2.245921	0.934404855114889	0.27169	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	5.8	3.49	0.39065	1.259000	0.32559	2.748000	0.34514	0.691000	0.84096	0.485000	0.26840	0.954000	0.29108	0.993000	0.69303	0.6846:0.0:0.3154:0.0	7.480	0.26571	841	0.37094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4912.12	33	chr11	19225795	.	A	G	4912.12	.	AC=2;AF=0.1;AN=20;DP=487;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.09;SOR=0.826	GT:AD:DP:GQ:PL	1/1:0,158:158:99:4935,473,0	9	1	0	0
chr11	20652332	20652332	A	G	exonic	SLC6A5	.	nonsynonymous SNV	SLC6A5:NM_001318369:exon14:c.A1412G:p.Y471C,SLC6A5:NM_004211:exon15:c.A2114G:p.Y705C	Hyperekplexia 3, Autosomal recessive, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	791122	Hyperekplexia_3|not_provided	MONDO:MONDO:0013827,MedGen:C3553288,OMIM:614618,Orphanet:3197|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.956	.	7.7e-05	0.00399361	0.0027	0.0002	0.0002	0	0	2.997e-05	0	0.0197	0.0023092	357	154602	rs143918578	0.0011	0.0011	0.0007	0.0016	0.0176	0.0011	0.0011	0.0169	0.0166	8.961e-05	2.236e-05	0	2.519e-05	0	0.0003	2.788e-05	0.0016	0.0176	0.0006	0.0006	0.0003	0.0010	0.0180	0.0005	0.0005	0.0150	0.0138	7.227e-05	0	0	0	0	0	0	2.94e-05	0.0009	0.0180	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	-1.34	0.79944	T	-6.45	0.91395	D	0.988	0.99611	0.798	0.94382	D	0.774	0.92304	D	10	0.015710473	0.00330	T	.	.	.	0.956	0.99253	.	.	0.96163882489	0.96122	0.9066680533180302	0.90639	0.857043523771	0.68784	0.756824374199	0.75457	T	0.571165	0.85803	D	0.0893005	0.63110	D	0.370434	0.91090	D	0.234165540141927	0.22148	T	0.885311	0.61048	D	0.8782721	0.89525	0.8246852	0.89840	0.8782721	0.89526	0.8246852	0.89841	-13.035	0.89507	D	.	.	0.773	0.76059	P	.	.	5.210900	0.87434	29.2	0.99840792394545741	0.92143	0.98515	0.83602	D	AEFBI	0.937357	0.93503	D	1.0121997460657	0.96108	14.30987	0.9447557628021	0.97245	15.81222	0.999049120122901	0.38290	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	8.880000	0.92035	11.286000	0.91899	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.349	0.83004	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.1	7256.12	40	chr11	20652332	.	A	G	7256.12	.	AC=2;AF=0.1;AN=20;DP=597;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.49;SOR=1.278	GT:AD:DP:GQ:PL	1/1:0,238:238:99:7279,713,0	9	1	0	0
chr11	36574312	36574312	C	G	exonic	RAG1	.	nonsynonymous SNV	RAG1:NM_000448:exon2:c.C1008G:p.F336L,RAG1:NM_001377280:exon2:c.C1008G:p.F336L,RAG1:NM_001377279:exon3:c.C1008G:p.F336L,RAG1:NM_001377278:exon4:c.C1008G:p.F336L,RAG1:NM_001377277:exon5:c.C1008G:p.F336L	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.0476137490386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.933	0.52105	P	0.791	0.57754	P	0.016302	0.28011	N	0.397494	0.68205	0.33243	D	1.385	0.34509	L	-0.97	0.75670	T	-2.6	0.55983	D	0.417	0.45709	0.104	0.84246	D	0.459	0.78975	T	10	0.7527144	0.75755	D	0.047614	0.63002	D	0.543	0.80960	0.753	0.88319	0.926634430986	0.92589	0.44230512189114424	0.44147	0.556447059233	0.52301	0.566733241081	0.48216	T	0.772522	0.93923	D	0.107144	0.65055	D	-0.0838712	0.64619	T	0.956970572471619	0.64892	D	0.904909	0.66542	D	0.4130946	0.61629	0.42329732	0.66204	0.4130946	0.61630	0.42329732	0.66204	-9.817	0.72809	D	0.23360561247079525	0.31623	0.925	0.84574	P	.	.	3.219439	0.43859	21.8	0.99418598136518099	0.63645	0.89534	0.50060	D	AEFGBI	0.388905	0.46833	N	0.336882955936457	0.58051	3.97521	0.269605330664357	0.53771	3.544623	0.999923042337325	0.46280	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.39	1.42	0.21524	0.619000	0.24083	1.786000	0.28758	0.599000	0.40250	0.996000	0.39380	0.994000	0.32194	0.994000	0.71098	0.0:0.6218:0.0:0.3782	10.268	0.42648	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4738.12	33	chr11	36574312	.	C	G	4738.12	.	AC=2;AF=0.1;AN=20;DP=595;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.97;SOR=1.036	GT:AD:DP:GQ:PL	1/1:0,153:153:99:4761,459,0	9	1	0	0
chr11	46386131	46386131	G	A	exonic	CHRM4	.	nonsynonymous SNV	CHRM4:NM_000741:exon2:c.C427T:p.R143W,CHRM4:NM_001366692:exon2:c.C427T:p.R143W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.0624349659305	.	.	8.538e-06	0	8.919e-05	0	0	0	0	0	1.29e-05	2	154602	rs200330011	2.396e-05	2.395e-05	2.179e-05	2.615e-05	8.12e-05	1.74e-05	1.54e-05	3.767e-05	2.663e-05	2.987e-05	2.241e-05	0	5.041e-05	0	0	1.979e-05	3.315e-05	8.12e-05	2.662e-05	2.64e-05	3.901e-05	1.364e-05	5.926e-05	8.22e-06	5.19e-06	1.983e-05	1.132e-05	0	0	0	0	0	0	0	5.926e-05	0	0	0.0	0.91255	D	0.079	0.42086	T	0.981	0.59675	D	0.531	0.48577	P	.	.	.	.	0.99961	0.47849	D	2.145	0.60081	M	-0.74	0.73205	T	-5.43	0.85323	D	0.83	0.82559	-0.4017	0.71973	T	0.312	0.68192	T	9	0.80858344	0.80168	D	0.062435	0.68651	D	0.531	0.80247	.	.	0.899079146089	0.89807	0.9527898917742664	0.95262	1.35464816004	0.84160	0.839369058609	0.87998	D	0.628821	0.88469	D	0.0997099	0.64261	D	0.00607993	0.70729	D	0.70458310842514	0.40938	D	0.949705	0.80662	D	0.3885258	0.59927	0.5615102	0.74628	0.3885258	0.59927	0.5615102	0.74628	-11.986	0.84783	D	.	.	0.383	0.58611	A	.	.	5.379523	0.90159	31	0.99894242585840731	0.96742	0.51497	0.28909	D	AEFGBI	0.704908	0.66047	D	0.212766632611332	0.51818	3.360139	0.213375098691071	0.50589	3.249347	0.999963164243992	0.48965	0.516011	0.20929	0	0.59043	0.45803	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	4.82	4.82	0.61641	0.518000	0.22554	5.869000	0.50514	0.662000	0.56354	0.667000	0.28322	1.000000	0.68203	0.745000	0.35611	0.0:0.0:0.6815:0.3185	11.044	0.47063	31	0.98186	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	.	.	.	.	.	.	.	.	0.1	7033.12	36	chr11	46386131	.	G	A	7033.12	.	AC=2;AF=0.1;AN=20;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.06;SOR=0.819	GT:AD:DP:GQ:PL	1/1:0,234:234:99:7056,700,0	9	1	0	0
chr11	46704760	46704760	C	T	exonic	ZNF408	.	nonsynonymous SNV	ZNF408:NM_001184751:exon5:c.C1036T:p.R346W,ZNF408:NM_024741:exon5:c.C1060T:p.R354W	Retinitis pigmentosa 72, Autosomal recessive	421	1100	1	0	0	1	0.000454339	.	.	.	1406746	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00952035016425	.	.	4.346e-05	0	0	0	0	3.105e-05	0	0.0002	3.23e-05	5	154602	rs749384154	2.153e-05	2.189e-05	2.482e-05	1.818e-05	0.0002	1.543e-05	1.344e-05	0.0001	0.0001	3.062e-05	4.831e-05	0	0	1.92e-05	0	4.539e-06	8.422e-05	0.0002	6.569e-06	6.566e-06	1.284e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.003	0.76473	D	0.997	0.70673	D	0.543	0.48966	P	0.198024	0.16673	N	0.443113	0.901264	0.27696	N	2.3	0.65703	M	1.58	0.29085	T	-3.23	0.65056	D	0.445	0.48319	-1.0741	0.08535	T	0.060	0.25018	T	10	0.21853623	0.38498	T	0.00952	0.24924	T	0.081	0.23632	0.373	0.38503	0.305410167561	0.30157	0.4868001191910575	0.48600	0.500536896077	0.48472	0.414473474026	0.27075	T	0.217426	0.57987	T	-0.313463	0.07446	T	-0.397901	0.33628	T	0.331259526049005	0.26275	T	0.338066	0.07246	T	0.20981498	0.43260	0.17487398	0.39914	0.20981498	0.43259	0.17487398	0.39913	-9.378	0.70097	D	.	.	0.210	0.43775	B	.	.	2.999716	0.40076	21.1	0.99901505994682571	0.97350	0.36839	0.25625	N	AEFBCI	0.419534	0.48672	N	-0.117301088964598	0.36639	2.120563	-0.133682887606351	0.34043	1.953834	0.864298692545189	0.25287	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.85	2.86	0.32427	0.060000	0.14220	0.540000	0.19325	0.549000	0.26987	0.004000	0.16614	0.037000	0.21475	0.982000	0.59238	0.3658:0.5653:0.0:0.069	9.169	0.36229	26	0.98304	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	2471.12	36	chr11	46704760	.	C	T	2471.12	.	AC=2;AF=0.1;AN=20;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.09;SOR=1.223	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2494,231,0	9	1	0	0
chr11	49981758	49981758	G	T	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.C744A:p.F248L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00149158585529	.	.	8.247e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs781968102	4.789e-06	4.788e-06	6.807e-06	2.75e-06	5.797e-05	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	0	3.312e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.021	0.58089	D	0.014	0.16867	B	0.084	0.29270	B	0.217972	0.16206	U	0.509754	1	0.08975	N	2.78	0.81115	M	8.3	0.00261	T	-5.07	0.82830	D	0.169	0.17966	-0.9760	0.35904	T	0.001	0.00287	T	10	0.083439976	0.13879	T	0.001492	0.02292	T	0.071	0.20720	0.361	0.36548	0.143124449307	0.13826	0.0742484740247856	0.07360	0.00354927273481	0.00305	0.315904021263	0.12800	T	0.018458	0.14879	T	-0.331576	0.05994	T	-0.617209	0.11405	T	0.482150673866272	0.31976	T	.	.	.	0.50090456	0.67147	0.4532994	0.68204	0.50090456	0.67148	0.4532994	0.68204	-6.514	0.50394	T	.	.	0.481	0.63712	A	.	.	0.402165	0.07734	4.414	0.9607195812040612	0.28626	0.02194	0.06410	N	AEFI	0.054397	0.09887	N	-0.890657052466009	0.11065	0.531946	-1.02298444565428	0.09280	0.4608336	4.99802564054448E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	-2.74	0.05582	-0.769000	0.04816	.	.	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.7123:0.0:0.2877:0.0	8.717	0.33575	224	0.91330	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	2302.12	34	chr11	49981758	.	G	T	2302.12	.	AC=2;AF=0.1;AN=20;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.97;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2325,216,0	9	1	0	0
chr11	57741941	57741941	C	T	exonic	SELENOH	.	unknown	UNKNOWN	.	416	1049	52	5	0	62	0.0287037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0077	0.00419329	0.0103	0.0014	0.0036	0	0.0035	0.0144	0.0114	0.0102	0.007322	1132	154602	rs1127680	0.0066	0.0066	0.0064	0.0068	0.0306	0.0065	0.0064	0.0268	0.0254	0.0009	0.0041	0.0818	0	0.0036	0.0306	0.0050	0.0118	0.0082	0.0061	0.0061	0.0063	0.0060	0.0091	0.0058	0.0057	0.0070	0.0062	0.0008	0	0.0046	0.0841	0	0.0042	0.0204	0.0062	0.0085	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031282	0.030303	0.027174	0.026316	0.050000	0.034483	0.049383	0.030303	0.1	2232.12	37	chr11	57741941	.	C	T	2232.12	.	AC=2;AF=0.1;AN=20;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.96;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,53:53:99:1|1:57741941_C_T:2255,159,0:57741941	9	1	0	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	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,45:124:99:.:.:240,0,1169:.	0	0	10	0
chr11	61898324	61898324	T	C	exonic	RAB3IL1	.	nonsynonymous SNV	RAB3IL1:NM_001271686:exon9:c.A1025G:p.K342R,RAB3IL1:NM_013401:exon10:c.A1103G:p.K368R	.	424	1078	20	0	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0039208026233	.	0.00139776	0.0013	0	0.0003	0	0	0.0004	0.0022	0.0075	0.0010737	166	154602	rs150700132	0.0006	0.0006	0.0004	0.0008	0.0069	0.0006	0.0005	0.0064	0.0062	8.961e-05	0.0004	0.0020	0	0	0.0029	0.0001	0.0008	0.0069	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.405e-05	0	0.0007	0.0014	0.0004	0	0.0034	0.0001	0	0.0044	0.158	0.91255	T	0.392	0.92824	T	0.005	0.21116	B	0.003	0.24832	B	0.000043	0.53742	N	0.121890	0.947939	0.37589	D	0.525	0.13617	N	1.45	0.32482	T	-1.5	0.36586	N	0.073	0.06190	-1.0799	0.07368	T	0.045	0.19234	T	10	0.009456545	0.00213	T	0.003921	0.09242	T	0.041	0.10877	0.379	0.39482	0.462287137294	0.45856	0.4396331280742285	0.43880	0.0747485147847	0.08389	0.607589244843	0.53975	T	0.041027	0.25721	T	-0.512453	0.00486	T	-0.505294	0.21799	T	0.0271312275529768	0.01563	T	0.832417	0.51943	T	0.07920888	0.18082	0.09345982	0.22075	0.07920888	0.18081	0.09345982	0.22075	-5.542	0.45495	T	.	.	0.070	0.29311	B	.;.;.	.;.;.	2.405263	0.30907	18.58	0.99606939266614536	0.74575	0.58657	0.30701	D	AEFDGBCI	0.234360	0.35713	N	-0.330949200297805	0.27978	1.53943	-0.171939391558643	0.32573	1.854573	0.999999028030449	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.699908	0.69081	0	.	.	4.71	3.56	0.39892	3.352000	0.51954	4.250000	0.42753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:0.2622:0.0:0.7378	7.123	0.24630	711	0.56613	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.1	3402.12	41	chr11	61898324	.	T	C	3402.12	.	AC=2;AF=0.1;AN=20;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.84;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3425,342,0	9	1	0	0
chr11	62676912	62676912	C	G	exonic	UBXN1	.	nonsynonymous SNV	UBXN1:NM_001286078:exon6:c.G568C:p.E190Q,UBXN1:NM_001286077:exon8:c.G745C:p.E249Q,UBXN1:NM_015853:exon8:c.G745C:p.E249Q	.	.	.	.	.	.	.	.	.	.	.	2813276	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.038	.	0.0056	0.00379393	0.0061	0.0013	0.0022	0	0.0123	0.0090	0.0077	0.0008	0.0063583	983	154602	rs111325595	0.0089	0.0089	0.0093	0.0085	0.0103	0.0087	0.0087	0.0101	0.0100	0.0013	0.0027	0.0075	2.519e-05	0.0123	0.0010	0.0103	0.0075	0.0010	0.0066	0.0066	0.0062	0.0070	0.0094	0.0063	0.0061	0.0088	0.0085	0.0021	0.0208	0.0030	0.0089	0	0.0155	0	0.0094	0.0052	0.0023	0.081	0.33418	T	0.505	0.15355	T	0.414	0.43117	B	0.076	0.37471	B	0.001916	0.37691	N	0.279501	1	0.81001	D	1.44	0.36004	L	1.92	0.23486	T	-1.35	0.36189	N	0.208	0.29544	-1.0684	0.09768	T	0.034	0.14464	T	10	0.0033310056	0.00057	T	.	.	.	0.038	0.09825	.	.	0.193917141947	0.19028	0.3227674887799808	0.32189	0.944348631935	0.72353	0.534112989902	0.43614	T	0.033287	0.22852	T	-0.545482	0.00310	T	-0.545293	0.17779	T	0.0131880632387009	0.00234	T	0.880612	0.60417	D	0.10481951	0.24780	0.06813455	0.14190	0.10481951	0.24780	0.06813455	0.14189	-6.132	0.47371	T	.	.	0.086	0.11124	B	.;.;.;.;.	.;.;.;.;.	3.421405	0.47512	22.5	0.9844850319181454	0.41598	0.89654	0.50257	D	AEFDBHCI	0.531028	0.55148	D	0.0240261640565567	0.42950	2.597575	0.135651212518168	0.46385	2.885439	0.999999989620046	0.74766	0.712529	0.81865	0	0.696144	0.67643	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.35	4.42	0.52775	4.536000	0.60348	.	.	0.587000	0.30956	0.997000	0.40164	1.000000	0.68203	0.811000	0.38219	0.0:0.8331:0.1669:0.0	12.636	0.56045	404	0.82510	.;UBX domain|UBX domain|UBX domain;UBX domain|UBX domain|UBX domain;UBX domain|UBX domain|UBX domain;UBX domain|UBX domain|UBX 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	2427.12	34	chr11	62676912	.	C	G	2427.12	.	AC=2;AF=0.1;AN=20;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.33;SOR=2.799	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2450,201,0	9	1	0	0
chr11	65962042	65962042	C	G	exonic	SART1	.	nonsynonymous SNV	SART1:NM_005146:exon1:c.C262G:p.P88A	.	378	1101	40	3	0	46	0.0204626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0014	0.00319489	0.0170	0.0030	0.0357	0	.	0.0221	0	0.0162	0.0016235	251	154602	rs200247501	0.0061	0.0058	0.0058	0.0065	0.0165	0.0060	0.0060	0.0157	0.0154	0.0009	0.0022	0.0224	0	0.0009	0.0139	0.0056	0.0067	0.0165	0.0044	0.0044	0.0046	0.0041	0.0147	0.0041	0.0040	0.0120	0.0110	0.0011	0	0.0026	0.0286	0	0.0007	0.0068	0.0057	0.0067	0.0147	0.033	0.44358	D	0.708	0.05563	T	0.557	0.38282	P	0.31	0.41396	B	0.000043	0.53742	D	0.074589	0.78246	0.34284	D	0.345	0.11182	N	1.88	0.23884	T	-1.47	0.35991	N	0.147	0.14905	-0.9705	0.37094	T	0.059	0.24612	T	10	0.0041353405	0.00081	T	.	.	.	0.096	0.27654	.	.	0.394236971158	0.39037	0.16397195523323133	0.16317	1.36751619527	0.84468	0.82925593853	0.86448	D	0.018581	0.14954	T	-0.475857	0.00782	T	-0.443988	0.28361	T	0.0257445643164212	0.01371	T	0.693931	0.30359	T	0.1616277	0.36185	0.08255757	0.18852	0.1616277	0.36185	0.08255757	0.18852	-3.592	0.17742	T	.	.	0.051	0.00187	B	.	.	2.156030	0.27469	17.47	0.99168744947273746	0.54326	0.39653	0.26261	N	AEFDGBHCI	0.055179	0.10095	N	-0.101039697550983	0.37347	2.171556	-0.0787453825877827	0.36269	2.108645	0.999999999991621	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.12	3.19	0.35720	0.448000	0.21443	0.618000	0.20101	0.524000	0.24156	0.995000	0.38783	0.998000	0.33993	0.986000	0.61781	0.2209:0.7791:0.0:0.0	8.988	0.35169	229	0.91079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015652	0.000000	0.003289	0.008000	0.000000	0.016667	0.024752	0.033333	0.1	828.12	16	chr11	65962042	.	C	G	828.12	.	AC=2;AF=0.1;AN=20;DP=189;ExcessHet=0;FS=0;InbreedingCoeff=0.9994;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.67;SOR=1.302	GT:AD:DP:GQ:PL	1/1:0,27:27:81:851,81,0	9	1	0	0
chr11	66347097	66347097	C	A	exonic	B4GAT1	.	nonsynonymous SNV	B4GAT1:NM_006876:exon1:c.G449T:p.R150L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0135425223125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.061	0.45530	T	0.842	0.46562	P	0.259	0.39405	B	0.000002	0.62929	D	0.059287	0.999977	0.53665	D	.	.	.	1.8	0.25344	T	-4.24	0.76015	D	0.745	0.74462	-1.0897	0.05582	T	0.064	0.26527	T	10	0.7658887	0.76700	D	0.013543	0.33021	T	0.128	0.35103	0.611	0.74418	0.146414634003	0.14194	0.9490011083754798	0.94883	1.75885429192	0.91093	0.652331769466	0.60317	T	0.746525	0.93020	D	-0.0462999	0.45006	T	-0.304283	0.44270	T	0.994312286376953	0.85531	D	0.826617	0.49005	T	0.5038839	0.67322	0.4324337	0.66829	0.5038839	0.67323	0.4324337	0.66829	-4.919	0.35948	T	0.3120649211330865	0.40996	0.218	0.44872	B	.	.	4.539764	0.71347	25.7	0.99544454764462187	0.70711	0.79558	0.39446	D	AEFDGBHCI	0.670733	0.63772	D	0.378334577271425	0.60250	4.211875	0.438888725742842	0.64006	4.646262	0.999999999873221	0.74766	0.766844	0.99359	0	0.587265	0.34161	0	0.851219	0.99655	0	0.627883	0.49187	0	.	.	5.48	5.48	0.80675	4.302000	0.58887	7.617000	0.62147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9099:0.0:0.0901	10.320	0.42944	62	0.97349	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3973.12	33	chr11	66347097	.	C	A	3973.12	.	AC=2;AF=0.1;AN=20;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.52;SOR=0.911	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,89:89:99:1|1:66347096_G_A:3996,268,0:66347096	9	1	0	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	928.21	47	chr11	66863811	.	C	T	928.21	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.219;DP=1024;ExcessHet=4.5998;FS=159.643;InbreedingCoeff=-0.4326;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.45;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,40:117:99:.:.:123,0,1318:.	4	0	6	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	162.04	43	chr11	94618061	.	G	C	162.04	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.092;DP=573;ExcessHet=0.7463;FS=267.11;InbreedingCoeff=-0.2199;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.845;SOR=9.364	GT:AD:DP:GQ:PL	0/1:41,17:64:8:8,0,517	6	0	3	1
chr11	101948072	101948072	C	G	exonic	CEP126	.	nonsynonymous SNV	CEP126:NM_020802:exon4:c.C436G:p.Q146E	.	430	1069	23	0	0	23	0.0106432	.	.	.	701522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0008	0.00419329	0.0030	0.0005	0.0017	0.0003	0.0002	0.0019	0.0055	0.0122	0.002749	425	154602	rs142141239	0.0021	0.0021	0.0018	0.0024	0.0116	0.0020	0.0020	0.0110	0.0107	0.0002	0.0013	0.0012	7.585e-05	0.0005	0.0096	0.0015	0.0025	0.0116	0.0014	0.0014	0.0015	0.0013	0.0120	0.0013	0.0012	0.0095	0.0086	0.0004	0	0.0014	0.0020	0	0.0002	0.0034	0.0015	0.0019	0.0120	0.008	0.58626	D	0.0	0.92824	D	.	.	.	.	.	.	0.000007	0.62929	D	0.066085	0.929249	0.27100	N	.	.	.	2.68	0.12371	T	-2.31	0.51319	N	0.44	0.47857	-1.1075	0.03293	T	0.091	0.34710	T	10	0.007989496	0.00181	T	.	.	.	0.195	0.47612	.	.	0.508637063495	0.50502	0.19715428182912278	0.19632	0.55903840178	0.52464	0.398614287376	0.24875	T	.	.	.	-0.370491	0.03569	T	-0.294573	0.45296	T	0.0340959912636383	0.02653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14933	B	.	.	3.740163	0.53550	23.4	0.99368339192578992	0.61326	0.86869	0.46246	D	AEFI	0.167823	0.29453	N	0.675443646849055	0.78024	6.788801	0.646616358878334	0.78357	6.860392	0.0347394805635801	0.14168	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	1.303000	0.33075	4.829000	0.45183	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1716:0.8284:0.0:0.0	12.085	0.52989	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	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	0.007553	0.005051	0.008152	0.011696	0.000000	0.017241	0.003049	0.000000	0.05	689.43	37	chr11	101948072	.	C	G	689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=-2.336;SOR=0.585	GT:AD:DP:GQ:PL	0/1:43,32:75:99:701,0,1030	9	0	1	0
chr11	101962536	101962538	AAA	-	exonic	CEP126	.	nonframeshift deletion	CEP126:NM_020802:exon6:c.1501_1503del:p.K501del,CEP126:NM_001363543:exon7:c.904_906del:p.K302del	.	421	1085	16	0	0	16	0.0073193	.	.	.	2809793	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0050	0.00379393	0.0044	0.0019	0.0033	0	0.0008	0.0067	0.0011	0.0014	0.0011526	30	26028	rs529950842	0.0060	0.0060	0.0061	0.0059	0.0127	0.0059	0.0058	0.0103	0.0095	0.0011	0.0049	0.0005	0	0.0008	0.0127	0.0070	0.0067	0.0018	0.0054	0.0054	0.0056	0.0052	0.0084	0.0051	0.0050	0.0076	0.0073	0.0012	0.0537	0.0084	0.0006	0	0.0007	0.0272	0.0081	0.0100	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012085	0.020202	0.013587	0.000000	0.050000	0.008621	0.015244	0.003788	0.1	4401.1	33	chr11	101962535	.	TAAA	T	4401.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.85;DP=590;ExcessHet=0.2348;FS=1.516;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=0.594;SOR=0.787	GT:AD:DP:GQ:PL	0/1:56,55:111:99:2141,0,2085	8	0	2	0
chr11	102796706	102796706	C	T	exonic	MMP1	.	nonsynonymous SNV	MMP1:NM_001145938:exon4:c.G385A:p.A129T,MMP1:NM_002421:exon4:c.G583A:p.A195T	COPD, rate of decline of lung function in	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00679801664548	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772239921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.302	0.20228	T	0.237	0.30795	B	0.214	0.37471	B	0.983282	0.07854	N	1.008340	0.981083	0.25065	N	1.605	0.40863	L	1.96	0.22270	T	-1.95	0.45222	N	0.202	0.22357	-0.9675	0.37713	T	0.051	0.21611	T	10	0.38903934	0.54755	T	0.006798	0.17982	T	0.050	0.13987	0.79	0.91217	0.185906805712	0.18197	0.657469892456208	0.65683	0.0116979458509	0.01102	0.244462221861	0.03207	T	0.150152	0.48950	T	-0.221621	0.17774	T	-0.556119	0.16743	T	0.376644313335419	0.28053	T	0.893211	0.63049	D	0.27871144	0.50924	0.1806183	0.40872	0.27871144	0.50924	0.1806183	0.40871	-3.667	0.18832	T	.	.	0.142	0.31304	B	.	.	1.521590	0.19533	14.31	0.9867584981578843	0.44539	0.36504	0.25548	N	AEFBCI	0.119568	0.23331	N	-0.519741797903656	0.21442	1.137964	-0.517068143197429	0.21689	1.174523	0.987149162872413	0.31193	0.660085	0.49399	0	0.573888	0.26702	0	0.573888	0.23631	0	0.651492	0.60203	0	.	.	5.87	1.93	0.24985	1.255000	0.32512	-1.885000	0.04553	0.599000	0.40250	0.189000	0.24175	0.000000	0.08366	0.815000	0.38403	0.0:0.6651:0.0:0.3349	9.217	0.36517	771	0.49057	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, 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	.	.	.	.	.	.	.	.	0.05	1025.43	35	chr11	102796706	.	C	T	1025.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.909;DP=424;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.341;SOR=0.598	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1037,0,1482	9	0	1	0
chr11	105029196	105029196	C	A	exonic	CASP1	.	stopgain	CASP1:NM_001223:exon6:c.G871T:p.E291X,CASP1:NM_001257119:exon6:c.G871T:p.E291X,CASP1:NM_033293:exon6:c.G655T:p.E219X,CASP1:NM_001257118:exon7:c.G934T:p.E312X,CASP1:NM_033292:exon7:c.G934T:p.E312X	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.978781	0.07826	N	1.010960	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.677	0.69300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363346	0.87509	D	0.284145	0.87348	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive;Recessive;.;.	.;.;.;High;High;.;.	6.701214	0.95613	35	0.98009149533539897	0.37544	0.11042	0.16368	N	AEFBI	0.091804	0.18592	N	0.044073012605337	0.43871	2.671612	-0.331695705589458	0.27082	1.500259	0.999909120437346	0.45458	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.12	2.2	0.26966	0.475000	0.21874	2.023000	0.30218	0.599000	0.40250	0.000000	0.06391	0.007000	0.19602	0.025000	0.12405	0.0:0.8808:0.0:0.1192	8.661	0.33255	886	0.28090	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic 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	.	.	.	.	.	.	.	.	0.05	2234.43	37	chr11	105029196	.	C	A	2234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.382;DP=411;ExcessHet=0;FS=1.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.08;ReadPosRankSum=-0.219;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,57:106:99:0|1:105029196_C_A:2246,0,1855:105029196	9	0	1	0
chr11	105029198	105029198	T	C	exonic	CASP1	.	nonsynonymous SNV	CASP1:NM_001223:exon6:c.A869G:p.E290G,CASP1:NM_001257119:exon6:c.A869G:p.E290G,CASP1:NM_033293:exon6:c.A653G:p.E218G,CASP1:NM_001257118:exon7:c.A932G:p.E311G,CASP1:NM_033292:exon7:c.A932G:p.E311G	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00456950151365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232312628	3.422e-06	3.42e-06	4.086e-06	2.752e-06	0.0001	1e-06	7.3e-07	4.366e-05	2.772e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.33091	T	0.203	0.27325	T	0.005	0.23521	B	0.013	0.32738	B	0.018033	0.01478	N	2.317120	1	0.08975	N	2.225	0.63025	M	1.98	0.21865	T	-2.86	0.68880	D	0.198	0.26233	-1.0080	0.27541	T	0.072	0.29259	T	10	0.13227686	0.25177	T	0.00457	0.11283	T	0.061	0.17616	0.448	0.50793	0.605179040742	0.60201	0.3803722905524121	0.37952	0.204107414628	0.22826	0.266118407249	0.05641	T	0.026401	0.54333	T	-0.40889	0.02022	T	-0.627475	0.10607	T	0.459214091300964	0.31136	T	0.441056	0.13490	T	0.36800274	0.58436	0.2445813	0.49928	0.36800274	0.58437	0.2445813	0.49927	-3.909	0.22438	T	.	.	0.085	0.10062	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.303070	0.17054	12.93	0.96153668457250629	0.28875	0.08574	0.14484	N	AEFBI	0.164404	0.29079	N	-0.789841912801837	0.13574	0.6696877	-0.872060898355572	0.12758	0.6581223	0.999874607266967	0.44625	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.69	2.45	0.28953	0.488000	0.22080	0.691000	0.20763	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2597:0.0:0.0:0.7403	7.310	0.25643	886	0.28090	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase 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	.	.	.	.	.	.	.	.	0.05	2234.43	37	chr11	105029198	.	T	C	2234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.389;DP=414;ExcessHet=0;FS=1.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.08;ReadPosRankSum=-0.292;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,57:106:99:0|1:105029196_C_A:2246,0,1855:105029196	9	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	.	.	.	.	.	.	.	.	0.3125	4213.63	178	chr11	106010659	.	C	T	4213.63	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,28:141:99:0|1:106010659_C_T:181,0,3358:106010659	3	0	5	2
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	.	.	.	.	.	.	.	.	0.5	4930.37	202	chr11	106010660	.	C	G	4930.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.122;DP=1478;ExcessHet=7.0302;FS=301.82;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=4.41;ReadPosRankSum=3.03;SOR=11.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,28:141:99:0|1:106010659_C_T:181,0,3358:106010659	0	0	7	3
chr11	108161220	108161220	G	A	exonic	NPAT	.	nonsynonymous SNV	NPAT:NM_001321307:exon17:c.C3887T:p.A1296V,NPAT:NM_002519:exon17:c.C3866T:p.A1289V	.	420	1098	4	0	0	4	0.00181818	.	.	.	1914734	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.00475113723496	.	.	4.971e-05	0	0	0	0	5.996e-05	0.0011	6.056e-05	3.88e-05	6	154602	rs754396326	2.941e-05	2.941e-05	2.178e-05	3.713e-05	0.0010	2.216e-05	1.97e-05	0.0005	0.0003	0	2.236e-05	0	0	0	0.0010	1.889e-05	8.279e-05	0.0001	2.629e-05	2.627e-05	1.285e-05	4.036e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.643	0.04957	T	0.301	0.20293	T	0.001	0.07471	B	0.006	0.12133	B	0.158592	0.17735	N	0.540404	0.971539	0.25648	N	0.93	0.23535	L	3.69	0.04114	T	-0.46	0.14978	N	0.047	0.01911	-0.9937	0.31643	T	0.034	0.14813	T	10	0.02733314	0.00881	T	0.004751	0.11847	T	0.114	0.32008	0.062	0.00241	0.287603790349	0.28378	0.08407830727986733	0.08341	0.0492381322711	0.05384	0.230336621404	0.01993	T	0.02811	0.20438	T	-0.384306	0.02926	T	-0.553137	0.17025	T	0.0914121344685555	0.11385	T	0.69743	0.30707	T	0.0146883475	0.00103	0.03132783	0.01706	0.0146883475	0.00103	0.03132783	0.01705	-2.922	0.09365	T	.	.	0.078	0.06803	B	.	.	2.141301	0.27267	17.40	0.74239615587302288	0.10622	0.91944	0.54602	D	AEFDGBHCI	0.160144	0.28603	N	-0.435830788347625	0.24223	1.306434	-0.366788569630323	0.25995	1.433024	0.999970994909255	0.50053	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	-1.35	0.08638	4.646000	0.61108	3.188000	0.36689	-0.135000	0.12811	1.000000	0.71638	0.805000	0.26985	0.858000	0.40661	0.259:0.0:0.741:0.0	10.859	0.46022	115	0.95340	Protein NPAT, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	680.43	34	chr11	108161220	.	G	A	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.523;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.682;SOR=0.813	GT:AD:DP:GQ:PL	0/1:37,25:62:99:692,0,979	9	0	1	0
chr11	108304736	108304736	A	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon37:c.A5558T:p.D1853V,ATM:NM_001351834:exon38:c.A5558T:p.D1853V	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1498	21	2	0	25	0.00827541	.	.	YES	137362	Hereditary_breast_ovarian_cancer_syndrome|not_specified|Familial_cancer_of_breast|Ataxia-telangiectasia_syndrome|Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.421415473121	0.0048	0.00179712	0.0052	0.0012	0.0024	0	0.0026	0.0069	0.0055	0.0064	0.004987	771	154602	rs1801673	0.0049	0.0049	0.0048	0.0049	0.0058	0.0048	0.0048	0.0054	0.0052	0.0005	0.0032	0.0071	5.041e-05	0.0036	0.0038	0.0052	0.0050	0.0058	0.0044	0.0044	0.0046	0.0042	0.0073	0.0041	0.0040	0.0068	0.0066	0.0008	0.0077	0.0029	0.0072	0.0002	0.0029	0	0.0073	0.0024	0.0050	0.006	0.61437	D	0.007	0.69154	D	0.881	0.48446	P	0.423	0.45170	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-0.75	0.73311	T	-4.52	0.78302	D	0.666	0.78832	-0.1943	0.77818	T	0.330	0.69800	T	10	0.016077608	0.00338	T	0.421415	0.93800	D	0.589	0.83582	.	.	0.862668985381	0.86133	0.5754807337306314	0.57477	0.230346816679	0.25583	0.484472572803	0.36672	T	0.26251	0.63409	T	0.0244139	0.54975	T	0.267279	0.86437	D	0.032220271790473	0.02342	T	0.90061	0.65471	D	0.6116418	0.73316	0.329566	0.58835	0.6022599	0.72813	0.26657072	0.52504	-7.74	0.59285	D	0.4752428700619266	0.55493	0.417	0.60512	A	.;.	.;.	4.271423	0.64994	24.8	0.99282703511633685	0.57973	0.97398	0.74496	D	AEFGBI	0.662245	0.63218	D	0.535458318470551	0.69203	5.323629	0.570547549243884	0.72837	5.873341	0.999923395911117	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	5.468000	0.66473	7.973000	0.76046	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.936	0.79492	145	0.94217	.;.	.	.	.	.	.	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	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1249.43	40	chr11	108304736	.	A	T	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.331;DP=417;ExcessHet=0;FS=4.096;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.548;SOR=0.461	GT:AD:DP:GQ:PL	0/1:34,53:87:99:1261,0,701	9	0	1	0
chr11	108665284	108665284	C	G	exonic	DDX10	.	nonsynonymous SNV	DDX10:NM_004398:exon1:c.C131G:p.P44R	.	.	.	.	.	.	.	.	.	.	.	701552	DDX10-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.152899151302	0.0014	0.000599042	0.0020	0.0006	0.0011	0	0.0017	0.0032	0.0011	6.193e-05	0.0019922	308	154602	rs149622934	0.0025	0.0025	0.0026	0.0025	0.0027	0.0025	0.0024	0.0026	0.0026	0.0005	0.0010	0.0147	0	0.0016	0.0003	0.0027	0.0028	0.0001	0.0020	0.0020	0.0022	0.0019	0.0029	0.0019	0.0018	0.0025	0.0024	0.0006	0	0.0010	0.0182	0.0002	0.0009	0	0.0029	0.0009	0	0.076	0.37326	T	0.235	0.26306	T	0.998	0.73220	D	0.902	0.64047	P	0.000059	0.53742	D	0.202806	0.999817	0.49394	D	2.17	0.60663	M	1.14	0.38556	T	-2.11	0.48020	N	0.551	0.61764	-0.9770	0.35683	T	0.155	0.48550	T	10	0.007487476	0.00170	T	0.152899	0.83425	D	0.112	0.31546	.	.	0.633018970913	0.63001	0.5282833499407419	0.52752	0.394364968837	0.40593	0.645140051842	0.59295	T	0.011103	0.09952	T	-0.321875	0.06746	T	-0.235409	0.51246	T	0.0461818260257115	0.04817	T	0.849215	0.53152	T	0.2877102	0.51779	0.32508358	0.58426	0.2877102	0.51779	0.32508358	0.58426	-11.773	0.83727	D	.	.	0.194	0.46049	B	.;.	.;.	4.617019	0.73272	26.0	0.99672887424008916	0.78717	0.72724	0.35587	D	ALL	0.432954	0.49462	N	0.352017927762803	0.58845	4.059452	0.356677706135384	0.58911	4.06476	0.999999999999752	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.34	4.43	0.52967	4.387000	0.59391	7.357000	0.58325	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9188:0.0:0.0812	12.079	0.52956	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	688.43	41	chr11	108665284	.	C	G	688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.795;DP=402;ExcessHet=0;FS=1.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.582;SOR=0.994	GT:AD:DP:GQ:PL	0/1:41,33:74:99:700,0,970	9	0	1	0
chr11	110579560	110579560	A	G	exonic	ARHGAP20	.	nonsynonymous SNV	ARHGAP20:NM_001258415:exon15:c.T3317C:p.V1106A,ARHGAP20:NM_001258417:exon15:c.T3278C:p.V1093A,ARHGAP20:NM_001258418:exon15:c.T3278C:p.V1093A,ARHGAP20:NM_001384657:exon15:c.T3386C:p.V1129A,ARHGAP20:NM_001258416:exon16:c.T3308C:p.V1103A,ARHGAP20:NM_020809:exon16:c.T3386C:p.V1129A	.	.	.	.	.	.	.	.	.	.	.	4042600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0039910432544	.	.	4.944e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775605659	2.668e-05	2.668e-05	1.634e-05	3.714e-05	0.0005	1.998e-05	1.754e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.459	0.10311	T	0.322	0.20037	T	0.001	0.09854	B	0.002	0.10090	B	0.714168	0.06275	N	1.156790	1	0.08975	N	1.845	0.48678	L	2.7	0.12268	T	-0.49	0.15578	N	0.039	0.02759	-0.9464	0.41582	T	0.016	0.06521	T	10	0.02541697	0.00737	T	0.003991	0.09462	T	0.036	0.09122	0.103	0.01643	0.117506650769	0.11410	0.1868770552063971	0.18605	0.129938835031	0.14657	0.283747285604	0.08021	T	0.02956	0.21156	T	-0.646469	0.00076	T	-0.816953	0.01515	T	0.0249811481058522	0.01270	T	0.505449	0.15971	T	0.03233241	0.03238	0.035887375	0.02927	0.03233241	0.03238	0.035887375	0.02927	-2.719	0.07464	T	.	.	0.075	0.26200	B	.;.;.;.;.;.	.;.;.;.;.;.	0.751715	0.11215	7.847	0.9522706550420581	0.26453	0.03520	0.08703	N	AEFBI	0.091896	0.18609	N	-1.18909962203163	0.05164	0.2347706	-1.21597358187187	0.05653	0.2699297	0.017080988799986	0.12909	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.91	-6.42	0.01760	-0.609000	0.05731	0.118000	0.14877	-0.057000	0.16691	0.000000	0.06391	0.000000	0.08366	0.824000	0.38829	0.2731:0.3156:0.3005:0.1107	2.306	0.03918	752	0.51611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1384.43	36	chr11	110579560	.	A	G	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.849;DP=405;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.008;SOR=0.532	GT:AD:DP:GQ:PL	0/1:36,55:91:99:1396,0,901	9	0	1	0
chr11	111495236	111495236	G	C	exonic	BTG4	.	nonsynonymous SNV	BTG4:NM_001367974:exon5:c.C589G:p.L197V,BTG4:NM_001367975:exon5:c.C589G:p.L197V,BTG4:NM_017589:exon5:c.C589G:p.L197V	.	.	.	.	.	.	.	.	.	.	.	2363305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00218107779796	.	0.000199681	0.0002	0	8.651e-05	0	0	0	0	0.0011	0.0001294	20	154602	rs533540949	7.874e-05	8.003e-05	5.722e-05	0.0001	0.0013	6.673e-05	6.207e-05	0.0011	0.0010	0	0	0	0	0	0	8.997e-07	6.627e-05	0.0013	5.255e-05	5.906e-05	1.285e-05	9.407e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.343	0.12592	T	0.11	0.37310	T	0.003	0.11197	B	0.005	0.11217	B	0.039138	0.24205	N	0.381467	0.996996	0.22829	N	1.795	0.47270	L	.	.	.	-0.13	0.08971	N	0.112	0.09914	-0.8032	0.54956	T	0.209	0.56812	T	9	0.013045937	0.00278	T	0.002181	0.04098	T	0.074	0.21613	0.312	0.28612	0.230578612272	0.22657	0.47760584671852635	0.47680	0.175110475986	0.19712	0.262312561274	0.05169	T	0.071342	0.34184	T	-0.487133	0.00674	T	-0.513043	0.21001	T	0.04257882489028	0.04161	T	0.616038	0.23564	T	0.08815869	0.20557	0.075014435	0.16470	0.08815869	0.20556	0.075014435	0.16470	-3.587	0.17669	T	.	.	0.073	0.04806	B	.	.	0.594163	0.09625	6.399	0.95818524909112812	0.27904	0.39239	0.26168	N	AEFBI	0.065448	0.12765	N	-0.457264818534474	0.23495	1.262088	-0.407844878559921	0.24766	1.358102	0.00243467355576743	0.09427	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	3.86	0.43689	0.152000	0.16120	1.188000	0.24745	0.672000	0.70159	0.020000	0.19661	0.717000	0.26328	0.054000	0.15518	0.0:0.284:0.7159:0.0	14.215	0.65329	165	0.93588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	758.43	33	chr11	111495236	.	G	C	758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.796;DP=386;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.716;SOR=0.914	GT:AD:DP:GQ:PL	0/1:44,38:82:99:770,0,1061	9	0	1	0
chr11	111836229	111836229	G	A	exonic	ALG9	.	nonsynonymous SNV	ALG9:NM_001352409:exon12:c.C1004T:p.P335L,ALG9:NM_001352418:exon12:c.C1394T:p.P465L,ALG9:NM_001352423:exon12:c.C881T:p.P294L,ALG9:NM_001077690:exon13:c.C1517T:p.P506L,ALG9:NM_001077691:exon13:c.C1025T:p.P342L,ALG9:NM_001077692:exon13:c.C1004T:p.P335L,ALG9:NM_001352410:exon13:c.C1004T:p.P335L,ALG9:NM_001352411:exon13:c.C1004T:p.P335L,ALG9:NM_001352412:exon13:c.C1004T:p.P335L,ALG9:NM_001352413:exon13:c.C1025T:p.P342L,ALG9:NM_001352414:exon13:c.C1025T:p.P342L,ALG9:NM_001352415:exon13:c.C1004T:p.P335L,ALG9:NM_001352416:exon13:c.C1004T:p.P335L,ALG9:NM_001352417:exon13:c.C1517T:p.P506L,ALG9:NM_001352419:exon13:c.C1025T:p.P342L,ALG9:NM_001352420:exon13:c.C1004T:p.P335L,ALG9:NM_001352421:exon13:c.C1004T:p.P335L,ALG9:NM_024740:exon13:c.C1538T:p.P513L,ALG9:NM_001352422:exon14:c.C929T:p.P310L	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome, Autosomal recessive	0	1485	37	0	0	37	0.0123046	.	.	.	177264	not_specified|ALG9-related_disorder|ALG9_congenital_disorder_of_glycosylation|not_provided|Gillessen-Kaesbach-Nishimura_syndrome	MedGen:CN169374|.|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MedGen:C3661900|MONDO:MONDO:0009890,MedGen:C1849762,OMIM:263210	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0336632568633	0.0015	0.00239617	0.0027	0.0007	0.0009	0.0001	0.0002	0.0027	0.0022	0.0074	0.0026649	412	154602	rs185149177	0.0035	0.0035	0.0034	0.0036	0.0068	0.0034	0.0034	0.0063	0.0061	0.0003	0.0008	0.0030	0	0.0005	0.0054	0.0037	0.0033	0.0068	0.0020	0.0020	0.0021	0.0019	0.0058	0.0018	0.0018	0.0041	0.0036	0.0006	0.0044	0.0014	0.0020	0	0.0007	0.0034	0.0031	0.0024	0.0058	0.104	0.29959	T	0.138	0.34716	T	0.047	0.27304	B	0.025	0.28987	B	0.000007	0.62929	N	0.147742	1	0.81001	D	2.015	0.55033	M	-0.07	0.63738	T	-5.0	0.82341	D	0.607	0.72925	-0.8880	0.49105	T	0.179	0.52551	T	10	0.008098453	0.00184	T	0.033663	0.55143	D	0.169	0.43123	.	.	0.788021503808	0.78605	0.5538995121555957	0.55315	0.425138627803	0.42928	0.614278435707	0.54920	T	0.431527	0.77962	T	-0.298674	0.08785	T	-0.198215	0.54816	T	0.0385160776820125	0.03423	T	0.941106	0.78262	D	0.29010123	0.52002	0.22707318	0.47706	0.29010123	0.52002	0.22707318	0.47705	-8.14	0.69506	D	0.2835001838480206	0.37917	0.085	0.10400	B	.;.;.;.;.	.;.;.;.;.	4.022110	0.59410	24.1	0.99620067464578854	0.75353	0.97965	0.78484	D	AEFDBIJ	0.904817	0.85558	D	0.121574638116134	0.47471	2.97232	0.292554044619244	0.55102	3.673803	0.999996788867736	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.920000	0.86928	9.952000	0.82735	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.093	0.93221	81	0.96616	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004044	0.000000	0.005435	0.005917	0.000000	0.000000	0.003067	0.003788	0.05	769.43	33	chr11	111836229	.	G	A	769.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.913;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.955;SOR=0.627	GT:AD:DP:GQ:PL	0/1:28,34:62:99:781,0,722	9	0	1	0
chr11	111926149	111926149	T	C	exonic	C11orf52	.	nonsynonymous SNV	C11orf52:NM_080659:exon4:c.T322C:p.F108L	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0377522800692	.	0.00199681	0.0010	0	8.642e-05	0.0001	0	1.5e-05	0	0.0073	0.0008991	139	154602	rs587635751	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	2.236e-05	0	0	0	0.0005	1.799e-06	0.0006	0.0066	0.0002	0.0002	8.991e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000020	0.62929	D	0.000000	0.965765	0.38488	D	1.625	0.41611	L	0.38	0.57575	T	-6.0	0.89534	D	0.823	0.81857	-0.5944	0.65044	T	0.234	0.60002	T	10	0.011179507	0.00245	T	0.037752	0.57812	D	0.295	0.61502	0.318	0.29581	0.430579932962	0.42676	0.7528489722663209	0.75231	1.5983681062	0.88651	.	.	.	0.184312	0.53693	T	-0.0614917	0.42673	T	0.142481	0.79707	D	0.116232526030901	0.14057	T	0.709529	0.32034	T	0.88043845	0.89703	0.79103416	0.87710	0.88043845	0.89704	0.79103416	0.87711	-3.919	0.22587	T	.	.	0.975	0.90290	P	.	.	4.055927	0.60153	24.2	0.99755014917074081	0.84615	0.78230	0.38565	D	AEFBCI	0.598824	0.59207	D	0.516494247378367	0.68063	5.166126	0.516446391015151	0.69096	5.311839	0.999999140363464	0.74766	0.538715	0.22204	0	0.475579	0.06741	0	0.78367	0.99111	0	0.656636	0.63459	0	.	.	5.07	5.07	0.68106	4.426000	0.59629	7.627000	0.62562	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	12.316	0.54280	90	0.96275	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1736.43	35	chr11	111926149	.	T	C	1736.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.57;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.721;SOR=0.691	GT:AD:DP:GQ:PL	0/1:60,71:131:99:1748,0,1544	9	0	1	0
chr11	117171692	117171692	C	T	exonic	PAFAH1B2	.	nonsynonymous SNV	PAFAH1B2:NM_001184746:exon6:c.C482T:p.S161L	.	438	1071	12	1	0	14	0.00649351	.	.	.	2840004	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.164	.	.	0.00259585	0.0042	0.0036	0.0106	0	0	0.0086	0.0076	0.0021	0.0017335	268	154602	rs186808413	0.0095	0.0091	0.0097	0.0094	0.0111	0.0094	0.0094	0.0109	0.0108	0.0018	0.0043	0.0043	2.799e-05	0.0091	0.0079	0.0111	0.0078	0.0018	0.0069	0.0069	0.0075	0.0063	0.0107	0.0066	0.0064	0.0101	0.0098	0.0023	0	0.0059	0.0049	0	0.0096	0.0034	0.0107	0.0057	0.0012	1.0	0.00964	T	0.952	0.02603	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.85	0.00483	N	0.107	0.09207	-0.9803	0.34932	T	0.012	0.04605	T	8	0.0031649172	0.00053	T	.	.	.	0.164	0.42212	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.621625	0.00107	T	-0.652072	0.08810	T	0.00409733260622465	0.00043	T	0.380262	0.09172	T	.	.	.	.	.	.	.	.	-3.234	0.12901	T	.	.	0.125	0.26388	B	.	.	0.986111	0.13641	10.17	0.82531075288562827	0.14241	0.03324	0.08395	N	ALL	0.021441	0.00956	N	-1.38582539939657	0.02770	0.1227948	-1.34268760873737	0.03893	0.182518	0.999999560853181	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	3.14	-0.0254	0.13261	0.120000	0.15476	-0.815000	0.07319	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.517000	0.29406	0.0:0.4755:0.2284:0.2961	3.104	0.05953	552	0.72024	.	.	.	APOC3	Liver	rs186808413	Likely benign	0	0	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	0.009464	0.000000	0.027778	0.019231	0.000000	0.000000	0.000000	0.000000	0.05	1197.43	39	chr11	117171692	.	C	T	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=454;ExcessHet=0;FS=0.734;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.904;SOR=0.589	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1209,0,1195	9	0	1	0
chr11	118313835	118313835	C	G	exonic	CD3E	.	nonsynonymous SNV	CD3E:NM_000733:exon7:c.C481G:p.P161A	Immunodeficiency 18, Autosomal recessive;Immunodeficiency 18, SCID variant, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	1926342	Immunodeficiency_18|Inborn_genetic_diseases	MONDO:MONDO:0014278,MedGen:C3810127,OMIM:615615|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.049698941004	.	0.000199681	8.255e-05	0	0	0	0	0	0	0.0006	7.12e-05	11	154602	rs530715111	6.363e-05	6.362e-05	3.267e-05	9.489e-05	0.0009	5.295e-05	4.911e-05	0.0007	0.0007	0	8.944e-05	0	0	0	0	8.093e-06	8.283e-05	0.0009	5.253e-05	5.249e-05	6.424e-05	4.029e-05	0.0006	2.556e-05	1.829e-05	0.0002	8.989e-05	0	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0006	0.046	0.40573	D	0.088	0.42794	T	0.836	0.46303	P	0.155	0.34417	B	0.000679	0.42516	D	0.107097	0.68252	0.33248	D	2.3	0.65703	M	0.62	0.53302	T	-4.39	0.77225	D	0.229	0.40864	-0.5848	0.65427	T	0.141	0.46110	T	10	0.056858897	0.06439	T	0.049699	0.63923	D	0.153	0.40148	.	.	0.541105671861	0.53764	0.31358858478191076	0.31271	0.274579088507	0.29952	0.380304068327	0.22299	T	0.553019	0.84899	D	-0.335577	0.05700	T	-0.340314	0.40308	T	0.159535557031631	0.17837	T	0.69953	0.30934	T	0.12003496	0.28254	0.15667439	0.36671	0.12003496	0.28254	0.15667439	0.36670	-3.459	0.15863	T	.	.	0.102	0.23605	B	.;.	.;.	2.248474	0.28719	17.89	0.97325287443444353	0.33399	0.15739	0.19058	N	AEFBI	0.169099	0.29590	N	-0.00427771481680406	0.41662	2.495951	-0.0574017589920204	0.37172	2.172869	0.999673123323755	0.41644	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.97	4.05	0.46415	0.753000	0.26042	0.604000	0.19959	0.549000	0.26987	0.619000	0.27905	0.523000	0.25320	0.905000	0.44082	0.1911:0.8089:0.0:0.0	10.637	0.44765	315	0.87208	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	615.43	33	chr11	118313835	.	C	G	615.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.255;DP=384;ExcessHet=0;FS=1.025;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.443;SOR=0.963	GT:AD:DP:GQ:PL	0/1:31,28:59:99:627,0,763	9	0	1	0
chr11	118344448	118344448	G	A	exonic	CD3G	.	nonsynonymous SNV	CD3G:NM_000073:exon1:c.G25A:p.V9I	Immunodeficiency 17, CD3 gamma deficient, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00852769420214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372130474	9.155e-06	1.368e-05	6.964e-06	1.139e-05	0.0001	5.11e-06	3.94e-06	3.556e-05	2.154e-05	0	0.0001	0	0	0	0	4.586e-06	6.798e-05	0	6.569e-06	6.566e-06	1.284e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.006	0.61437	D	0.225	0.25514	T	0.054	0.22658	B	0.031	0.21939	B	0.867848	0.08847	N	0.948110	1	0.22728	N	0.345	0.11182	N	0.53	0.55090	T	-0.42	0.14193	N	0.131	0.12627	-1.0223	0.22965	T	0.065	0.26913	T	10	0.06521785	0.08765	T	0.008528	0.22557	T	0.084	0.24469	.	.	0.213573922156	0.20996	0.3782461667705875	0.37739	0.299493112566	0.32315	0.229720383883	0.01947	T	0.136706	0.46923	T	-0.159954	0.26767	T	-0.467539	0.25781	T	0.0704200818661098	0.08710	T	0.669433	0.27806	T	0.06291232	0.13190	0.07001964	0.14827	0.06291232	0.13189	0.07001964	0.14827	-4.038	0.24370	T	.	.	0.094	0.14614	B	.	.	1.153162	0.15417	11.83	0.58811510507123377	0.06078	0.08026	0.14004	N	AEFBHI	0.076154	0.15314	N	-0.940312949442268	0.09912	0.4712431	-0.939039571184503	0.11178	0.5678976	0.999674759964101	0.41644	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.49	-1.33	0.08693	0.126000	0.15597	0.009000	0.13411	0.676000	0.76740	0.484000	0.26832	0.000000	0.08366	0.158000	0.20581	0.342:0.1335:0.3881:0.1364	1.580	0.02474	142	0.94345	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1452.43	37	chr11	118344448	.	G	A	1452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.647;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.497;SOR=0.682	GT:AD:DP:GQ:PL	0/1:44,62:106:99:1464,0,1093	9	0	1	0
chr11	118581318	118581318	C	G	exonic	ARCN1	.	nonsynonymous SNV	ARCN1:NM_001655:exon2:c.C76G:p.R26G	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0748069254124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.026e-05	9.528e-06	1.1e-05	1.349e-05	6.16e-06	4.89e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.15	0.88382	M	1.17	0.37910	T	-5.73	0.90060	D	0.894	0.93723	-0.2848	0.75410	T	0.316	0.68593	T	10	0.9059999	0.89964	D	0.074807	0.72134	D	0.526	0.79947	0.741	0.87317	0.707600317614	0.70505	0.7663305946693483	0.76582	1.70680105471	0.90386	0.885740578175	0.94719	D	0.354624	0.93808	T	0.253045	0.78885	D	0.125705	0.78612	D	0.996590852737427	0.89672	D	0.989923	0.97754	D	0.833231	0.86128	0.8024194	0.88421	0.833231	0.86130	0.8024194	0.88422	-15.92	0.97639	D	.	.	0.875	0.92479	P	.;.;.;.	.;.;.;.	5.044284	0.83977	28.2	0.99887152377858368	0.96204	0.99520	0.97008	D	AEFDGBHIJ	0.959769	0.98026	D	0.936004392847711	0.93408	12.02017	0.885547209986188	0.94910	13.14699	1.0	0.98316	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.616919	0.45865	0	.	.	5.55	5.55	0.83298	7.506000	0.80535	2.576000	0.33390	0.589000	0.31548	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	19.514	0.95147	343	0.85802	AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;.;AP complex, mu/sigma subunit	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1583.43	34	chr11	118581318	.	C	G	1583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.262;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.396;SOR=0.741	GT:AD:DP:GQ:PL	0/1:55,70:125:99:1595,0,1233	9	0	1	0
chr11	124023688	124023688	C	T	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C676T:p.R226W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00181638638885	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs770016884	1.026e-05	1.026e-05	8.168e-06	1.238e-05	5.797e-05	6.16e-06	4.89e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-06	0	5.797e-05	6.577e-06	6.565e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.832	0.59730	P	0.627629	0.10718	N	0.805161	1	0.08975	N	3.655	0.94224	H	8.37	0.00247	T	-5.79	0.88065	D	0.266	0.30118	-0.9544	0.40203	T	0.002	0.00585	T	10	0.28207338	0.45786	T	0.001816	0.03115	T	0.070	0.20419	0.432	0.48171	0.652918622136	0.65003	0.3873138145812285	0.38646	0.909016350626	0.70977	0.186228781939	0.00165	T	0.009129	0.08331	T	-0.28781	0.09858	T	-0.448541	0.27859	T	0.699711727448611	0.40705	D	0.367163	0.08573	T	0.23927706	0.46816	0.2424058	0.49661	0.23927706	0.46816	0.2424058	0.49660	-7.049	0.54390	T	.	.	0.178	0.38889	B	.	.	2.986991	0.39860	21.1	0.99727385111650657	0.82477	0.07250	0.13273	N	AEFDI	0.097194	0.19607	N	-0.084404063653568	0.38076	2.224597	-0.312471543910937	0.27695	1.538649	2.99771349585806E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.44	2.3	0.27735	-0.031000	0.12237	-2.091000	0.04227	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.8014:0.1986:0.0:0.0	9.014	0.35321	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4091.43	48	chr11	124023688	.	C	T	4091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=1588;ExcessHet=0;FS=1.79;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=-1.055;QD=12.18;ReadPosRankSum=-0.469;SOR=0.793	GT:AD:DP:GQ:PL	0/1:178,158:336:99:4103,0,4349	9	0	1	0
chr11	124225357	124225357	C	T	exonic	OR8G2P	.	nonsynonymous SNV	OR8G2P:NM_001291438:exon1:c.C665T:p.T222M	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0003	0.0003	0.0002	0.0017	0	0.0001	0	0.0005	0.0005763	15	26028	rs186627433	0.0001	0.0001	8.328e-05	0.0001	0.0005	8.738e-05	8.224e-05	0.0004	0.0004	3e-05	4.483e-05	0	0.0005	0	0.0002	5.409e-05	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0001	0.0016	0.0013	0.0001	0	6.535e-05	0	0.0027	0	0.0034	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.050000	0.000000	0.000000	0.000000	0.05	614.43	220	chr11	124225357	.	C	T	614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.89;DP=1562;ExcessHet=0;FS=11.602;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.23;MQRankSum=-5.753;QD=3.79;ReadPosRankSum=-1.092;SOR=1.708	GT:AD:DP:GQ:PL	0/1:131,31:162:99:626,0,3253	9	0	1	0
chr11	124250540	124250540	-	GCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	exonic	OR8G1	.	stopgain	OR8G1:NM_001002905:exon1:c.865_866insGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC:p.I289Sfs*6	.	812	661	1	2	46	51	0.0037679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0012	0.0013	0.0014	0.0268	0.0013	0.0013	0.0228	0.0213	0.0010	0.0002	0.0004	0.0009	0.0180	0.0268	0.0004	0.0007	0.0024	0.0042	0.0044	0.0039	0.0046	0.0058	0.0039	0.0038	0.0039	0.0038	0.0046	0.0049	0.0034	0.0030	0.0033	0.0029	0.0212	0.0044	0.0045	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2253.74	.	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	2253.74	.	AC=2;AF=0.2;AN=10;DP=470;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=60;QD=31.08;SOR=2.97	GT:AD:DP:GQ:PL	1/1:0,51:51:99:2268,139,0	4	1	0	5
chr12	884939	884939	A	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.A3394G:p.T1132A,WNK1:NM_001184985:exon19:c.A4915G:p.T1639A,WNK1:NM_018979:exon19:c.A4135G:p.T1379A,WNK1:NM_213655:exon19:c.A4891G:p.T1631A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	641463	Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Inborn_genetic_diseases	MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.0132395561349	.	.	4.119e-05	0	0	0.0001	0	4.496e-05	0	6.056e-05	3.88e-05	6	154602	rs758763241	3.489e-05	3.489e-05	3.403e-05	3.575e-05	0.0016	2.697e-05	2.438e-05	0.0008	0.0006	0	0	0	0.0003	0	0.0016	2.338e-05	3.312e-05	4.637e-05	3.942e-05	3.94e-05	2.569e-05	5.38e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.359e-05	0	0	0	0	0.0006	0	0.0032	2.94e-05	0	0	0.105	0.30515	T	0.506	0.10967	T	0.0	0.02946	B	0.004	0.10090	B	0.005617	0.32654	N	0.267324	0.991689	0.24154	N	2.045	0.56016	M	1.61	0.28391	T	-2.88	0.60507	D	0.024	0.01274	-1.0358	0.18606	T	0.049	0.21026	T	10	0.042243242	0.02955	T	0.01324	0.32488	T	0.052	0.14661	0.123	0.02942	0.134007934775	0.12933	0.22148611605682514	0.22063	0.189087657881	0.21227	0.277636945248	0.07165	T	0.096827	0.61236	T	-0.542755	0.00323	T	-0.647493	0.09131	T	0.0272863283087741	0.01584	T	0.744226	0.37241	T	0.04422415	0.07030	0.061712407	0.11961	0.04422415	0.07030	0.061712407	0.11961	-3.342	0.14470	T	.	.	0.078	0.06896	B	.;.;.;.;.	.;.;.;.;.	2.005874	0.25488	16.78	0.71614006345006187	0.09689	0.75193	0.36805	D	AEFBI	0.206961	0.33318	N	-0.511465234733624	0.21708	1.154069	-0.43687414021391	0.23924	1.307241	0.0546864707832399	0.14985	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	1.93	0.24985	0.703000	0.25321	0.347000	0.17439	0.756000	0.94297	0.808000	0.29825	0.000000	0.08366	0.143000	0.20056	0.4052:0.3306:0.1387:0.1255	2.076	0.03405	552	0.72024	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.012195	0.000000	0.1	5714.12	191	chr12	884939	.	A	G	5714.12	.	AC=2;AF=0.1;AN=20;DP=1591;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.07;SOR=0.95	GT:AD:DP:GQ:PL	1/1:0,190:190:99:5737,570,0	9	1	0	0
chr12	1913093	1913093	C	T	exonic	CACNA2D4	.	nonsynonymous SNV	CACNA2D4:NM_172364:exon3:c.G356A:p.G119D	Retinal cone dystrophy 4, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1503850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0455138715127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.149	0.92824	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.052840	1	0.81001	D	2.74	0.80084	M	2.61	0.37746	T	-5.02	0.82511	D	0.96	0.98466	-1.0011	0.29602	T	0.116	0.41053	T	10	0.8019103	0.79581	D	0.045514	0.62018	D	0.420	0.72930	0.634	0.77032	0.416202232284	0.41236	0.9083707315611426	0.90810	0.70152782101	0.61159	0.660309553146	0.61453	T	0.493249	0.81688	T	0.119856	0.66357	D	-0.0656118	0.65938	T	0.994776844978333	0.86277	D	.	.	.	0.75276524	0.81029	0.78302103	0.87214	0.75276524	0.81030	0.78302103	0.87215	-14.478	0.94526	D	.	.	0.895	0.89495	P	.;.;.;.;.;.	.;.;.;.;.;.	4.904747	0.80643	27.4	0.99869343095652163	0.94726	0.97498	0.75138	D	AEFDGBI	0.905178	0.85637	D	0.825908713927554	0.87697	9.308622	0.786574677437935	0.88844	9.737531	0.999999999999989	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.32	5.32	0.75377	7.707000	0.83595	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.663	0.91438	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	7492.12	33	chr12	1913093	.	C	T	7492.12	.	AC=2;AF=0.1;AN=20;DP=571;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.38;SOR=0.8	GT:AD:DP:GQ:PL	1/1:0,255:255:99:7515,764,0	9	1	0	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	1238.83	54	chr12	4591261	.	G	C	1238.83	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.278;DP=748;ExcessHet=4.5998;FS=280.048;InbreedingCoeff=-0.4825;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.18;SOR=10.841	GT:AD:DP:GQ:PL	0/1:44,26:74:99:348,0,782	5	0	4	1
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	177.49	40	chr12	4591262	.	T	C	177.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.537;DP=578;ExcessHet=0.7463;FS=186.015;InbreedingCoeff=-0.1777;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.63;SOR=8.155	GT:AD:DP:GQ:PL	0/1:57,18:75:64:64,0,1657	7	0	3	0
chr12	4628490	4628490	T	C	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.A412G:p.M138V,AKAP3:NM_006422:exon5:c.A412G:p.M138V	.	.	.	.	.	.	.	.	.	.	.	2326652	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.308	0.0164490450025	.	.	8.237e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750998559	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.979	0.59044	D	0.982	0.75477	D	0.000001	0.84330	D	0.000000	0.592748	0.32470	D	1.83	0.48079	L	2.46	0.48460	T	-2.61	0.70191	D	0.718	0.72031	-0.2407	0.76608	T	0.280	0.65189	T	10	0.5801972	0.65806	D	0.016449	0.37712	T	0.308	0.62947	0.434	0.48500	0.689273411809	0.68660	0.47796679930284414	0.47716	0.57297603563	0.53367	0.506057024002	0.39671	T	0.246239	0.65573	T	0.0840509	0.62510	D	0.0520851	0.73722	D	0.960550129413605	0.65835	D	0.881012	0.60027	D	0.7642068	0.81702	0.7888801	0.87576	0.7642068	0.81704	0.7888801	0.87577	-3.379	0.14775	T	.	.	0.239	0.59347	B	.;.;.	.;.;.	3.987191	0.58662	24.0	0.99475829838298802	0.66579	0.88945	0.49125	D	AEFBI	0.646400	0.62195	D	0.657119127048591	0.76830	6.559435	0.610402455980223	0.75695	6.356123	0.973345022412714	0.29447	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.76	4.76	0.60189	4.572000	0.60600	7.868000	0.71808	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.171	0.53463	680	0.59965	RII binding domain;RII binding domain;RII 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	.	.	.	.	.	.	.	.	0.05	2682.43	35	chr12	4628490	.	T	C	2682.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=1292;ExcessHet=0;FS=0.981;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.75;SOR=0.766	GT:AD:DP:GQ:PL	0/1:123,119:242:99:2694,0,2918	9	0	1	0
chr12	5044781	5044781	C	A	exonic	KCNA5	.	nonsynonymous SNV	KCNA5:NM_002234:exon1:c.C634A:p.R212S	Atrial fibrillation, familial, 7, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0569473840702	.	.	8.247e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs77281462	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.236e-05	6.4e-07	4.3e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.15	0.32461	T	0.066	0.23586	B	0.038	0.23361	B	0.000005	0.62929	U	0.000000	0.997653	0.44071	D	1.12	0.28775	L	-0.9	0.74896	T	-1.44	0.35399	N	0.205	0.22742	-0.7409	0.58407	T	0.232	0.59855	T	10	0.22267649	0.39025	T	0.056947	0.66788	D	0.268	0.58254	0.443	0.49975	0.902261172282	0.90128	0.848956071584371	0.84857	0.803977751471	0.66377	0.391646742821	0.23901	T	0.492535	0.81645	T	-0.0874159	0.38501	T	-0.280478	0.46755	T	0.231914162635803	0.22042	T	0.819218	0.47714	T	0.1577596	0.35529	0.1628638	0.37809	0.1577596	0.35529	0.1628638	0.37808	-5.112	0.38033	T	.	.	0.360	0.57192	A	.	.	1.569288	0.20094	14.59	0.98572370152057842	0.43128	0.38002	0.25889	N	AEFDBI	0.575463	0.57784	D	-0.434470297960076	0.24269	1.30925	-0.343580411233754	0.26707	1.477002	0.98521278942507	0.30848	0.549168	0.22868	0	0.627178	0.54094	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	4.77	2.8	0.31881	0.610000	0.23950	1.394000	0.26140	-1.053000	0.01634	0.075000	0.22209	1.000000	0.68203	0.006000	0.07323	0.2949:0.5605:0.1446:0.0	8.774	0.33906	675	0.60470	Potassium channel tetramerisation-type BTB domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.05	1900.43	116	chr12	5044781	.	C	A	1900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.984;SOR=0.701	GT:AD:DP:GQ:PL	0/1:69,76:145:99:1912,0,1526	9	0	1	0
chr12	8059258	8059258	-	CTCAGA	exonic	C3AR1	.	nonframeshift insertion	C3AR1:NM_001326475:exon2:c.927_928insTCTGAG:p.E309_L310insSE,C3AR1:NM_001326477:exon2:c.927_928insTCTGAG:p.E309_L310insSE,C3AR1:NM_004054:exon2:c.927_928insTCTGAG:p.E309_L310insSE	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	3.84e-05	1	26028	rs761377451	1.642e-05	1.642e-05	6.806e-06	2.613e-05	0.0002	1.111e-05	9.33e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.169e-05	8.279e-05	5.797e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1780.39	33	chr12	8059258	.	G	GCTCAGA	1780.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.67;DP=465;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.134;SOR=0.855	GT:AD:DP:GQ:PL	0/1:76,49:125:99:1792,0,3038	9	0	1	0
chr12	8456134	8456134	A	C	exonic	CLEC6A	.	nonsynonymous SNV	CLEC6A:NM_001007033:exon1:c.A23C:p.Q8P,CLEC6A:NM_001317999:exon1:c.A23C:p.Q8P	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0058	0.0119808	0.0089	0.0019	0.0117	0	0.0015	0.0097	0.0089	0.0159	0.0092819	1435	154602	rs118084065	0.0099	0.0099	0.0098	0.0101	0.0159	0.0098	0.0097	0.0152	0.0149	0.0018	0.0108	0.0315	5.041e-05	0.0009	0.0103	0.0098	0.0123	0.0159	0.0080	0.0080	0.0082	0.0077	0.0159	0.0076	0.0075	0.0131	0.0120	0.0022	0.1031	0.0108	0.0337	0	0.0009	0.0204	0.0093	0.0109	0.0159	0.007	0.59928	D	0.008	0.67890	D	0.94	0.52768	P	0.272	0.39956	B	0.319473	0.14295	N	0.520295	1	0.08975	N	2.07	0.56829	M	3.29	0.06445	T	-1.55	0.37566	N	0.306	0.34552	-0.9950	0.31299	T	0.005	0.01506	T	10	0.0031131506	0.00052	T	.	.	.	0.040	0.10527	.	.	0.453588565359	0.44983	0.2530612940756762	0.25220	0.225619827505	0.25111	0.264399886131	0.05426	T	0.10257	0.41042	T	-0.550518	0.00290	T	-0.549931	0.17333	T	0.00599623502293781	0.00066	T	0.39826	0.10085	T	0.1970939	0.41561	0.17639962	0.40171	0.1970939	0.41561	0.17639962	0.40170	-3.316	0.13945	T	.	.	0.061	0.01126	B	.	.	1.401166	0.18154	13.58	0.92700504507297832	0.22191	0.09450	0.15203	N	AEFDGBCI	0.063924	0.12382	N	-0.441514636209237	0.24028	1.29459	-0.667939832498965	0.17764	0.9460425	0.999422505522612	0.39630	0.497415	0.19182	0	0.475579	0.06741	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.1	0.64	0.16924	1.315000	0.33214	1.090000	0.23972	0.567000	0.28720	0.010000	0.18352	0.000000	0.08366	0.021000	0.11733	0.6021:0.2567:0.1412:0.0	3.054	0.05807	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.006793	0.002924	0.000000	0.008621	0.012195	0.011364	0.05	414.43	34	chr12	8456134	.	A	C	414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.976;DP=368;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=2.37;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,21:57:99:426,0,908	9	0	1	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F,KLRC1:NM_007328:exon3:c.C211T:p.L71F,KLRC1:NM_001304448:exon4:c.C211T:p.L71F,KLRC1:NM_213657:exon4:c.C211T:p.L71F,KLRC1:NM_213658:exon4:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	157.47	44	chr12	10450556	.	G	A	157.47	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.73;DP=425;ExcessHet=0;FS=52.039;InbreedingCoeff=-0.2158;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=0.914;SOR=5.782	GT:AD:DP:GQ:PL	0/1:41,17:58:99:165,0,670	4	0	1	5
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21125.9	234	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	21125.9	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.63;DP=2008;ExcessHet=0;FS=3.474;InbreedingCoeff=0.598;MLEAC=10;MLEAF=0.833;MQ=47.36;MQRankSum=-1.624;QD=24.8;ReadPosRankSum=-1.592;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:115,88:203:20:1|1:11353720_C_CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT:3169,20,0:11353720	2	4	0	4
chr12	21860987	21860987	G	A	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_001377274:exon19:c.C1541T:p.T514I,ABCC9:NM_005691:exon21:c.C2408T:p.T803I,ABCC9:NM_020297:exon21:c.C2408T:p.T803I,ABCC9:NM_001377273:exon22:c.C2408T:p.T803I	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	399054	ABCC9-related_disorder|Dilated_cardiomyopathy_1O	.|MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.981	0.439880251865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997660720	2.738e-06	2.736e-06	1.362e-06	4.128e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.74150	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.565	0.93411	H	-3.43	0.94388	D	-5.46	0.86758	D	0.937	0.94314	1.091	0.99263	D	0.940	0.98043	D	10	0.9861443	0.98908	D	0.43988	0.94144	D	0.981	0.99874	0.937	0.99103	0.981910236375	0.98171	0.7582614432545384	0.75774	1.7646026135	0.91173	0.905787944794	0.97057	D	0.959739	0.99474	D	0.524533	0.95024	D	0.515679	0.94951	D	0.999407052993774	0.97270	D	0.982302	0.94028	D	0.83976614	0.86591	0.821498	0.89635	0.83976614	0.86593	0.821498	0.89635	-12.191	0.85769	D	0.6138863943820472	0.68169	0.993	0.94612	P	.;.;.	.;.;.	5.278795	0.88632	29.7	0.99887838914114013	0.96281	0.99749	0.99180	D	AEFI	0.955089	0.97268	D	1.02622121208823	0.96495	14.76519	0.940254926262382	0.97100	15.58977	0.999998985250296	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	9.883000	0.98528	11.754000	0.95474	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.555	0.91032	697	0.58201	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.1	2430.12	34	chr12	21860987	.	G	A	2430.12	.	AC=2;AF=0.1;AN=20;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.26;SOR=0.74	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2453,258,0	9	1	0	0
chr12	31500446	31500446	G	A	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_001308339:exon2:c.C113T:p.S38L	.	567	922	33	0	0	33	0.0175812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	0.00419329	0.0194	0	0.0341	0	.	0.0167	0.0405	0.0215	0.0026778	414	154602	rs141702066	0.0106	0.0052	0.0096	0.0115	0.0190	0.0103	0.0102	0.0147	0.0144	0.0020	0.0038	0.0089	0.0001	0.0015	0.0190	0.0118	0.0106	0.0156	0.0080	0.0080	0.0086	0.0074	0.0131	0.0076	0.0075	0.0124	0.0121	0.0021	0.0186	0.0065	0.0095	0.0002	0.0008	0.0136	0.0131	0.0052	0.0131	0.126	0.27194	T	0.123	0.35582	T	0.893	0.49136	P	0.519	0.48163	P	0.142966	0.18226	U	0.309743	1	0.08975	N	.	.	.	4.55	0.01948	T	-1.17	0.29933	N	0.03	0.00717	-0.8889	0.49029	T	0.006	0.01870	T	8	0.0034925938	0.00062	T	.	.	.	0.053	0.14996	.	.	.	.	0.06382100541606522	0.06321	.	.	.	.	.	0.021384	0.16659	T	-0.76798	0.00013	T	-0.863603	0.00805	T	0.00830917297184111	0.00100	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18206	B	.	.	0.007160	0.04332	1.101	0.90153726147446234	0.19431	0.00230	0.01288	N	AEFBI	0.034594	0.04311	N	-0.671784551672223	0.16829	0.8608266	-0.928904405062539	0.11413	0.5813171	0.999657046820802	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	0.539	0.539	0.16348	-1.590000	0.02205	-0.492000	0.08854	-1.495000	0.01039	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	.	.	.	958	0.09170	.	ETFBKMT	Thyroid	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1216.12	34	chr12	31500446	.	G	A	1216.12	.	AC=2;AF=0.1;AN=20;DP=324;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.64;SOR=1.23	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1239,132,0	9	1	0	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	.	.	.	.	.	.	.	.	0.35	1393.03	83	chr12	39764776	.	G	C	1393.03	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:87:0|1:39764776_G_C:87,0,879:39764776	3	0	7	0
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	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	.	.	.	.	.	.	.	.	0.25	897.15	66	chr12	39764778	.	G	A	897.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.361;DP=458;ExcessHet=2.8389;FS=279.776;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.99;ReadPosRankSum=0.768;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:87:0|1:39764776_G_C:87,0,879:39764776	5	0	5	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	17494.1	658	chr12	40483220	.	T	A	17494.1	.	AC=2;AF=0.1;AN=20;DP=6949;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.95;QD=31.87;SOR=0.922	GT:AD:DP:GQ:PL	1/1:0,549:549:99:17517,1644,0	9	1	0	0
chr12	40483902	40483902	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	547	967	8	0	0	8	0.00411946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs796546299	0.0001	0.0001	0.0001	0.0001	0.0019	9.984e-05	9.226e-05	0.0009	0.0007	0.0003	0	0	0	0	0.0019	8.137e-05	0.0003	0.0013	0.0003	0.0008	0.0003	0.0003	0.0019	0.0002	0.0002	0.0009	0.0006	0.0002	0	0.0004	0	0.0002	0	0	0.0003	0.0006	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	19023.1	651	chr12	40483902	.	C	T	19023.1	.	AC=2;AF=0.1;AN=20;DP=6501;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.91;QD=31.71;SOR=0.762	GT:AD:DP:GQ:PL	1/1:0,600:600:99:19046,1799,0	9	1	0	0
chr12	40485171	40485194	AACAACTGGACCATCAGCTGGGGT	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1283170866	2.413e-06	0.0008	2.242e-06	2.613e-06	0.0011	4e-07	1.5e-07	.	.	0	0.0011	0	0	0	0	1.319e-06	0	0	6.681e-06	0.0018	0	1.369e-05	6.837e-05	0	0	.	.	0	0	6.837e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	477.39	804	chr12	40485170	.	GAACAACTGGACCATCAGCTGGGGT	G	477.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=7.79;DP=8085;ExcessHet=0;FS=31.927;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.31;MQRankSum=-28.34;QD=0.57;ReadPosRankSum=-5.353;SOR=4.373	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:772,67:839:99:0|1:40485170_GAACAACTGGACCATCAGCTGGGGT_G:489,0,32214:40485170	9	0	1	0
chr12	40485199	40485204	AGGACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	546	975	1	0	0	1	0.000512558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs1268064007	8.458e-06	0.0018	1.123e-05	5.232e-06	0.0011	3.52e-06	2.26e-06	1.24e-06	8.3e-07	6.361e-05	0.0011	0	0	0	0	5.284e-06	3.692e-05	0	4.116e-05	0.0031	2.672e-05	5.642e-05	0.0002	1.778e-05	1.17e-05	5.866e-05	3.095e-05	2.49e-05	0	0.0002	0	0	9.992e-05	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	934.39	804	chr12	40485198	.	AAGGACT	A	934.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.73;DP=7741;ExcessHet=0;FS=31.045;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.99;MQRankSum=-26.86;QD=1.21;ReadPosRankSum=-5.203;SOR=3.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:697,73:770:99:0|1:40485170_GAACAACTGGACCATCAGCTGGGGT_G:946,0,28908:40485170	9	0	1	0
chr12	40485210	40485210	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237855094	3.377e-05	0.0021	3.268e-05	3.503e-05	0.0124	2.317e-05	1.958e-05	0.0065	0.0048	6.784e-05	0.0124	0	0.0003	0	0	1.181e-05	0.0002	0	0.0003	0.0043	0.0002	0.0003	0.0021	0.0002	0.0002	0.0015	0.0013	0.0001	0	0.0021	0	0	0.0001	0	5.051e-05	0.0006	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2763.23	804	chr12	40485210	.	A	G	2763.23	.	AC=1;AF=0.071;AN=14;BaseQRankSum=11.81;DP=7711;ExcessHet=0.2348;FS=33.106;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.071;MQ=57.45;MQRankSum=-26.03;QD=1.81;ReadPosRankSum=-5.344;SOR=3.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:656,90:746:99:0|1:40485170_GAACAACTGGACCATCAGCTGGGGT_G:1584,0,26936:40485170	6	0	1	3
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4122.1	682	chr12	40486404	.	T	TATCA	4122.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=7.21;DP=8566;ExcessHet=0.2348;FS=50.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.99;MQRankSum=-30.06;QD=1.65;ReadPosRankSum=-7.859;SOR=5.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1260,151:1411:99:0|1:40486404_T_TATCA:2541,0,50959:40486404	8	0	2	0
chr12	40486405	40486405	-	CTGGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4242.97	682	chr12	40486405	.	G	GCTGGGGTGACAGAGAGTACTGGACTA	4242.97	.	AC=1;AF=0.125;AN=8;BaseQRankSum=7.71;DP=9215;ExcessHet=0.2348;FS=53.265;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=57.96;MQRankSum=-29.97;QD=1.69;ReadPosRankSum=-12.08;SOR=5.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1251,154:1408:99:.:.:2642,0,51270:.	3	0	1	6
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	31329.3	901	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	31329.3	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1429,0:1429:99:.:.:4256,0,59302:.	2	0	8	0
chr12	40488858	40488858	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	573	912	7	23	7	60	0.0282365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374519651	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0096	0.0010	0.0008	0.0014	0.0008	0.0007	0.0009	0.0007	0.0005	0	0.0014	0.0007	0.0008	0.0028	0	0.0009	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1121.53	957	chr12	40488858	.	C	A	1121.53	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.551;DP=5821;ExcessHet=0;FS=2.886;InbreedingCoeff=0.092;MLEAC=2;MLEAF=0.2;MQ=59.19;MQRankSum=-11.65;QD=1.16;ReadPosRankSum=-6.697;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:719,249:968:99:0|1:40488830_A_G:1129,0,29753:40488830	4	0	1	5
chr12	40488861	40488861	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	581	906	7	23	5	58	0.0284182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1475609431	0	5.431e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0063	0.0006	0.0005	0.0008	0.0004	0.0004	0.0004	0.0003	0.0003	0	0.0008	0.0003	0.0005	0.0019	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	698.53	957	chr12	40488861	.	G	C	698.53	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.047;DP=5812;ExcessHet=0;FS=2.058;InbreedingCoeff=0.092;MLEAC=2;MLEAF=0.2;MQ=59.14;MQRankSum=-11.59;QD=0.73;ReadPosRankSum=-8.008;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:720,239:959:99:0|1:40488830_A_G:706,0,29822:40488830	4	0	1	5
chr12	40490286	40490286	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	595	902	19	0	6	25	0.0104224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186244381	1.359e-06	0.0003	2.527e-06	0	6.872e-05	0	0	.	.	6.872e-05	0	0	0	0	0	0	0	0	0.0003	0.0084	0.0002	0.0003	0.0018	0.0002	0.0002	0.0011	0.0009	0.0001	0.0016	0.0018	0	0.0009	0.0001	0	4.372e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	327.05	748	chr12	40490286	.	C	T	327.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.097;DP=7602;ExcessHet=0;FS=9.626;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=52.13;MQRankSum=-10.53;QD=0.46;ReadPosRankSum=-1.339;SOR=1.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:655,55:710:99:1|0:40490259_C_T:338,0,27292:40490259	8	0	1	1
chr12	40490287	40490287	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	589	899	19	0	15	34	0.0104568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314271449	1.355e-06	0.0003	2.518e-06	0	6.852e-05	0	0	.	.	6.852e-05	0	0	0	0	0	0	0	0	0.0002	0.0076	0.0002	0.0003	0.0014	0.0002	0.0001	0.0009	0.0007	9.404e-05	0.0015	0.0014	0	0.0006	0.0001	0	5.854e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	324.05	748	chr12	40490287	.	A	G	324.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.744;DP=7603;ExcessHet=0;FS=9.626;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=52.11;MQRankSum=-10.52;QD=0.46;ReadPosRankSum=-1.353;SOR=2.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:656,55:711:99:1|0:40490259_C_T:335,0,27367:40490259	8	0	1	1
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	14745.1	612	chr12	40490978	.	G	A	14745.1	.	AC=2;AF=0.1;AN=20;DP=6005;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=58.92;QD=30.09;SOR=0.792	GT:AD:DP:GQ:PL	1/1:8,482:490:99:14768,1383,0	9	1	0	0
chr12	40549636	40549636	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1048307839	2.827e-05	1.749e-05	2.889e-05	2.779e-05	4.403e-05	1.429e-05	1.062e-05	2.028e-05	1.375e-05	0	0	0	0	0	0	4.403e-05	6.984e-05	1.674e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2279.12	35	chr12	40549636	.	G	A	2279.12	.	AC=2;AF=0.1;AN=20;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.39;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2302,225,0	9	1	0	0
chr12	47748856	47748856	C	T	exonic	RAPGEF3	.	nonsynonymous SNV	RAPGEF3:NM_001098532:exon10:c.G991A:p.A331T,RAPGEF3:NM_001098531:exon11:c.G1117A:p.A373T,RAPGEF3:NM_006105:exon11:c.G991A:p.A331T	.	419	1101	2	0	0	2	0.000907441	.	.	.	2431449	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0177914816699	0.0002	.	8.239e-05	0	0	0.0001	0	0.0001	0	0	7.12e-05	11	154602	rs370751497	9.646e-05	9.782e-05	9.938e-05	9.351e-05	0.0003	8.31e-05	7.85e-05	0.0001	9.595e-05	0	4.473e-05	0	2.519e-05	0	0.0003	0.0001	6.624e-05	0	4.601e-05	4.597e-05	5.139e-05	4.037e-05	0.0003	2.11e-05	1.527e-05	8.876e-05	5.385e-05	0	0	0.0003	0	0	0	0	4.412e-05	0	0	0.42	0.16466	T	0.506	0.21545	T	0.001	0.07471	B	0.001	0.04355	B	0.501814	0.05096	N	1.296300	1	0.08975	N	-0.345	0.03330	N	-0.36	0.71068	T	-0.47	0.21429	N	0.016	0.01498	-1.0162	0.24948	T	0.158	0.49094	T	10	0.044751108	0.03467	T	0.017791	0.39625	T	0.042	0.11227	.	.	0.427368086475	0.42351	0.2808053565358004	0.27993	0.189808599766	0.21301	0.340394675732	0.16498	T	0.09119	0.38743	T	-0.466555	0.00894	T	-0.659641	0.08291	T	0.0138330443888889	0.00262	T	0.634936	0.24909	T	0.028518353	0.02202	0.038909484	0.03866	0.028518353	0.02201	0.038909484	0.03865	-4.164	0.27441	T	.	.	0.061	0.01215	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.615661	0.01529	0.098	0.71422524652225305	0.09624	0.01534	0.05046	N	AEFDGBI	0.052234	0.09304	N	-1.15533347066281	0.05693	0.260179	-1.17012306972094	0.06413	0.3086689	0.997626386858719	0.35831	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.19	0.075	0.13708	-1.977000	0.01585	-6.561000	0.01365	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.182000	0.21359	0.0:0.4622:0.1579:0.38	4.558	0.11544	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1295.43	33	chr12	47748856	.	C	T	1295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.503;DP=470;ExcessHet=0;FS=2.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.386;SOR=0.908	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1307,0,1523	9	0	1	0
chr12	51291923	51291923	T	C	exonic	BIN2	.	nonsynonymous SNV	BIN2:NM_001364781:exon8:c.A1021G:p.S341G,BIN2:NM_001290008:exon9:c.A1087G:p.S363G,BIN2:NM_001290009:exon9:c.A811G:p.S271G,BIN2:NM_001290007:exon10:c.A1105G:p.S369G,BIN2:NM_001364779:exon10:c.A1180G:p.S394G,BIN2:NM_001364780:exon10:c.A1183G:p.S395G,BIN2:NM_016293:exon10:c.A1183G:p.S395G	.	413	1054	54	1	0	56	0.025878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	0.0069	0.0061901	0.0069	0.0019	0.0043	0	0.0011	0.0101	0.0210	0.0041	0.0072444	1120	154602	rs117691477	0.0082	0.0082	0.0081	0.0083	0.0598	0.0080	0.0080	0.0546	0.0526	0.0025	0.0054	0.0226	7.557e-05	0.0007	0.0598	0.0087	0.0096	0.0048	0.0063	0.0063	0.0066	0.0060	0.0092	0.0060	0.0058	0.0086	0.0083	0.0019	0.0077	0.0066	0.0239	0	0.0011	0.0578	0.0092	0.0118	0.0023	0.005	0.63226	D	0.25	0.23707	T	.	.	.	.	.	.	0.134044	0.18530	N	0.552381	1	0.08975	N	.	.	.	-0.22	0.66474	T	-1.3	0.32590	N	0.101	0.08366	-0.0381	0.81459	T	0.627	0.86887	D	10	0.005218178	0.00114	T	.	.	.	0.151	0.39764	.	.	0.729024482968	0.72661	.	.	.	.	0.440217971802	0.30607	T	0.027653	0.20205	T	-0.472698	0.00818	T	-0.440743	0.28726	T	0.0274481654808206	0.01609	T	0.626337	0.24237	T	.	.	.	.	.	.	.	.	-6.919	0.53440	T	.	.	0.095	0.14933	B	.;.	.;.	3.583961	0.50537	23.0	0.97677817348493945	0.35294	0.60666	0.31261	D	AEFDGBHCI	0.132742	0.25216	N	-0.428853180268346	0.24463	1.321021	-0.363398670306346	0.26097	1.439343	0.999999999865107	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	1.347000	0.33580	2.133000	0.30793	0.665000	0.62972	0.626000	0.27965	1.000000	0.68203	0.449000	0.27873	0.0:0.0:0.0:1.0	10.367	0.43215	369	0.84396	.;.	.	.	.	.	rs117691477	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.048338	0.025253	0.052989	0.076023	0.050000	0.137931	0.033537	0.011364	0.05	1113.43	35	chr12	51291923	.	T	C	1113.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.856;DP=434;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.418;SOR=0.672	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1125,0,1514	9	0	1	0
chr12	52396963	52396963	G	A	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon6:c.C988T:p.R330C	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.141688595386	0.0011	0.000599042	0.0010	0.0017	0.0002	0	0.0002	0.0011	0.0022	0.0012	0.000925	143	154602	rs139209735	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0024	0.0011	0.0004	0.0008	0	0.0001	0.0042	0.0006	0.0008	0.0012	0.0008	0.0008	0.0007	0.0009	0.0012	0.0007	0.0006	0.0007	0.0006	0.0009	0.0022	0.0003	0.0003	0	0.0006	0.0068	0.0008	0.0033	0.0012	0.017	0.51248	D	0.022	0.57587	D	0.127	0.26966	B	0.063	0.27082	B	0.000076	0.52346	D	0.000000	0.983455	0.40016	D	2.705	0.79137	M	-2.63	0.90083	D	-7.02	0.93786	D	0.297	0.33578	0.394	0.89000	D	0.722	0.90459	D	10	0.031328857	0.01267	T	0.141689	0.82410	D	0.460	0.75755	.	.	0.767735741357	0.76561	0.41788241260701847	0.41704	0.0826830038412	0.09327	0.361032187939	0.19536	T	0.555079	0.85004	D	-0.22638	0.17130	T	-0.138489	0.60249	T	0.0746199953984784	0.09285	T	0.913709	0.69301	D	0.3118815	0.53948	0.3581836	0.61299	0.3118815	0.53948	0.3581836	0.61299	-6.398	0.49494	T	.	.	0.123	0.25850	B	.	.	3.993923	0.58801	24.0	0.99823176131405977	0.90590	0.38310	0.25959	N	AEFBI	0.217225	0.34238	N	-0.0392781722324125	0.40083	2.374399	-0.0199253544056693	0.38817	2.292352	0.275181053958315	0.18933	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.25	0.49658	1.335000	0.33444	.	.	0.676000	0.76740	0.012000	0.18695	1.000000	0.68203	0.993000	0.69303	0.0836:0.0:0.7549:0.1616	7.722	0.27901	778	0.48011	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.002924	0.000000	0.025862	0.009146	0.000000	0.05	750.43	33	chr12	52396963	.	G	A	750.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.922;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.676;SOR=0.693	GT:AD:DP:GQ:PL	0/1:31,31:62:99:762,0,704	9	0	1	0
chr12	53482893	53482893	C	T	exonic	MAP3K12	.	nonsynonymous SNV	MAP3K12:NM_001193511:exon11:c.G1910A:p.R637H,MAP3K12:NM_006301:exon12:c.G1811A:p.R604H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.0755278311656	.	.	1.707e-05	0	8.715e-05	0	0	1.557e-05	0	0	1.29e-05	2	154602	rs754240127	3.426e-06	6.156e-06	1.364e-06	5.509e-06	2.24e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	2.24e-05	0	0	0	0	2.698e-06	1.657e-05	0	1.314e-05	1.313e-05	2.568e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.045	0.51421	D	0.968	0.56581	D	0.375	0.43710	B	0.082143	0.20825	N	0.352402	0.791023	0.29225	N	0.55	0.14455	N	-1.31	0.79761	T	-0.94	0.25118	N	0.193	0.33030	-0.2973	0.75060	T	0.401	0.75195	T	10	0.22718132	0.39592	T	0.075528	0.72311	D	0.335	0.65718	0.389	0.41115	0.647400199072	0.64447	0.24915830748808537	0.24829	0.197406258411	0.22118	0.798055708408	0.81666	T	0.143659	0.47989	T	0.0350782	0.56398	T	-0.187389	0.55835	T	0.489424108578844	0.32243	T	0.931207	0.74412	D	0.17482552	0.38308	0.11204455	0.27031	0.17482552	0.38307	0.11204455	0.27030	-5.032	0.37186	T	.	.	0.257	0.49216	B	.;.;.	.;.;.	4.545639	0.71494	25.7	0.99869000462700153	0.94726	0.81610	0.40979	D	AEFDBHCI	0.238646	0.36074	N	0.210241116059741	0.51696	3.348751	0.230387112179851	0.51543	3.335797	0.999996282963429	0.74766	0.645754	0.44609	0	0.577304	0.33150	0	0.696144	0.63334	0	0.636168	0.56350	0	.	.	3.99	3.99	0.45527	2.220000	0.42549	5.927000	0.51257	0.549000	0.26987	0.876000	0.30908	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	14.021	0.64071	591	0.68823	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	947.43	39	chr12	53482893	.	C	T	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.213;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-1.553;SOR=0.793	GT:AD:DP:GQ:PL	0/1:36,38:74:99:959,0,886	9	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	678.61	78	chr12	54363394	.	G	A	678.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.666;DP=970;ExcessHet=2.8389;FS=217.393;InbreedingCoeff=-0.4287;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.14;SOR=9.401	GT:AD:DP:GQ:PL	0/1:54,23:79:42:42,0,1173	3	0	5	2
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	0.15	5184.45	33	chr12	54962733	.	G	A	5184.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.22;DP=678;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.515;SOR=0.658	GT:AD:DP:GQ:PL	0/1:75,63:138:99:1571,0,1815	7	0	3	0
chr12	55683907	55683907	T	C	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon2:c.T593C:p.I198T	.	428	1090	4	0	0	4	0.0018315	.	.	.	3343630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.00815921010394	7.7e-05	.	0.0003	0	0.0006	0	0	0.0002	0.0011	0.0013	0.0002781	43	154602	rs369422527	0.0002	0.0002	0.0002	0.0003	0.0051	0.0002	0.0002	0.0036	0.0031	8.961e-05	0.0006	0	0	0	0.0051	9.263e-05	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	9.629e-05	0	0.0003	0	0	0	0	0.0002	0.0009	0.0015	0.018	0.50676	D	0.024	0.64786	D	0.565	0.38434	P	0.201	0.36881	B	0.080654	0.20912	N	0.499382	0.903816	0.36236	D	1.77	0.45869	L	2.03	0.20959	T	-2.32	0.51478	N	0.374	0.41557	-1.0680	0.09858	T	0.046	0.19879	T	10	0.024705857	0.00689	T	0.008159	0.21623	T	0.188	0.46444	.	.	0.043077524339	0.03247	0.15234584201379014	0.15156	0.0495549813721	0.05433	0.492167234421	0.37740	T	0.087619	0.37982	T	-0.418799	0.01741	T	-0.393367	0.34157	T	0.084445006545753	0.10545	T	0.833317	0.50212	T	0.0833133	0.19234	0.08952104	0.20937	0.0833133	0.19234	0.08952104	0.20937	-6.948	0.53654	T	.	.	0.211	0.51532	B	.;.	.;.	3.150840	0.42657	21.6	0.93795338957903918	0.23762	0.97111	0.72754	D	AEFBI	0.939063	0.93915	D	-0.26560889023581	0.30485	1.700275	-0.279017255950245	0.28790	1.607979	0.996201076390436	0.34592	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	4.01	2.84	0.32241	6.774000	0.74807	.	.	-0.147000	0.12262	0.889000	0.31176	0.764000	0.26647	0.618000	0.31844	0.0:0.0:0.1914:0.8086	8.765	0.33859	742	0.52873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1001.43	34	chr12	55683907	.	T	C	1001.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.167;DP=415;ExcessHet=0;FS=1.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.687;SOR=0.913	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1013,0,1249	9	0	1	0
chr12	64830440	64830440	C	T	exonic	TBC1D30	.	nonsynonymous SNV	TBC1D30:NM_001330186:exon4:c.C346T:p.R116C,TBC1D30:NM_001364838:exon4:c.C4T:p.R2C,TBC1D30:NM_015279:exon4:c.C346T:p.R116C,TBC1D30:NM_001330187:exon6:c.C4T:p.R2C,TBC1D30:NM_001330188:exon6:c.C4T:p.R2C	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	.	0.00359425	0.0094	0	0.0106	0	0.0258	0.0065	0.0272	0.0079	0.0017335	268	154602	rs150781447	0.0064	0.0061	0.0064	0.0065	0.0066	0.0063	0.0063	0.0065	0.0064	0.0010	0.0024	0.0004	0.0002	0.0235	0.0011	0.0066	0.0060	0.0065	0.0053	0.0053	0.0047	0.0059	0.0062	0.0050	0.0049	0.0057	0.0056	0.0011	0.0164	0.0035	0.0012	0.0006	0.0213	0	0.0062	0.0038	0.0048	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.6	0.52187	T	-4.09	0.90215	D	0.764	0.76203	-0.5688	0.66063	T	0.227	0.59246	T	9	0.009200603	0.00208	T	.	.	.	0.249	0.55752	.	.	0.713283039119	0.71077	0.8827341055890763	0.88241	.	.	0.88533437252	0.94666	D	0.096004	0.39736	T	-0.213355	0.18908	T	-0.0752411	0.65249	T	0.0197525379161602	0.00677	T	0.982152	0.96102	D	.	.	.	.	.	.	.	.	-11.345	0.81516	D	.	.	0.638	0.80145	P	.;.;.;.	.;.;.;.	5.592259	0.92390	32	0.99912410541778518	0.98167	0.95516	0.65032	D	AEFBI	0.793286	0.72133	D	0.673652848070092	0.77906	6.765853	0.650746418531569	0.78664	6.922308	0.999999819888137	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.667671	0.60360	0	0.655142	0.61905	0	.	.	5.91	5.02	0.66742	5.889000	0.69508	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9315:0.0:0.0685	14.834	0.69800	438	0.80235	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1738.43	35	chr12	64830440	.	C	T	1738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.863;DP=479;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.86;SOR=0.638	GT:AD:DP:GQ:PL	0/1:63,80:143:99:1750,0,1345	9	0	1	0
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V,LGR5:NM_001277227:exon13:c.C1054G:p.L352V,LGR5:NM_003667:exon14:c.C1270G:p.L424V	.	433	1058	26	5	0	36	0.0167286	.	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012085	0.010101	0.006793	0.005848	0.000000	0.025862	0.015244	0.015152	0.15	4632.45	36	chr12	71577986	.	C	G	4632.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.166;DP=652;ExcessHet=0.7463;FS=1.104;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.084;SOR=0.81	GT:AD:DP:GQ:PL	0/1:72,81:153:99:1787,0,1642	7	0	3	0
chr12	80542259	80542259	T	G	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon22:c.T3616G:p.L1206V	Deafness, autosomal recessive 84A, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	1287522	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.00630051043232	.	.	0.0002	0	0	0	0	0.0002	0.0053	0	2.59e-05	4	154602	rs755745017	6.864e-05	6.567e-05	6.49e-05	7.249e-05	0.0007	5.744e-05	5.338e-05	0.0004	0.0003	0	0.0006	0.0005	0	0	0.0007	4.451e-05	0.0002	2.53e-05	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0010	0.0008	0	0	0.0014	0.0003	0	0	0	0.0001	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.975087	0.39159	D	.	.	.	.	.	.	.	.	.	0.522	0.58798	-0.7826	0.56155	T	0.208	0.56785	T	8	0.07531297	0.11623	T	0.006301	0.16551	T	.	.	0.53	0.63707	0.0611884634855	0.05136	0.25949205043624846	0.25863	.	.	0.47497355938	0.35366	T	0.025674	0.19153	T	-0.337664	0.05552	T	-0.346962	0.39552	T	0.115116841838056	0.13945	T	0.836316	0.50742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.36053	B	.;.;.	.;.;.	1.979033	0.25141	16.65	0.98756559071947414	0.45739	0.73280	0.35847	D	AEFI	0.143002	0.26560	N	-0.350986577399369	0.27235	1.492677	-0.361184189774662	0.26165	1.443453	0.292823379824279	0.19106	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.59	-2.08	0.06852	0.368000	0.20132	-0.136000	0.11567	-0.203000	0.08628	0.291000	0.25242	0.015000	0.20450	0.993000	0.69303	0.0:0.4405:0.0:0.5595	11.865	0.51766	902	0.24074	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	1	0	0	1	0	0	0	0.001534	0.000000	0.000000	0.004808	0.000000	0.000000	0.000000	0.000000	0.05	837.43	65	chr12	80542259	.	T	G	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.814;DP=550;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-1.206;SOR=0.587	GT:AD:DP:GQ:PL	0/1:47,39:86:99:849,0,1151	9	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCTGTTAA:p.E331Gfs*8	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1489.23	152	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCTGTTAA	1489.23	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.85;DP=1300;ExcessHet=2.8389;FS=10.899;InbreedingCoeff=-0.3342;MLEAC=1;MLEAF=0.05;MQ=58.64;MQRankSum=-8.603;QD=2.17;ReadPosRankSum=-4.004;SOR=2.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,16:142:99:.:.:244,0,5191:.	9	0	1	0
chr12	105126095	105126095	G	A	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon11:c.G878A:p.R293Q,WASHC4:NM_015275:exon11:c.G878A:p.R293Q	.	439	1078	5	0	0	5	0.00231374	.	.	.	226930	not_provided|WASHC4-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0195611185927	0.0014	0.00119808	0.0018	0.0001	0.0030	0	0	0.0026	0.0023	0.0002	0.0017658	273	154602	rs35267264	0.0017	0.0017	0.0017	0.0018	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0024	0	0	0.0001	0.0038	0.0021	0.0014	0.0003	0.0014	0.0015	0.0016	0.0013	0.0026	0.0013	0.0012	0.0023	0.0022	0.0003	0	0.0017	0	0	0	0	0.0026	0.0009	0	0.066	0.36113	T	0.062	0.45318	T	0.993	0.65571	D	0.77	0.56828	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.36	0.34452	T	-1.6	0.38540	N	0.865	0.86191	-0.8796	0.49793	T	0.189	0.54049	T	10	0.055656135	0.06118	T	0.019561	0.41954	T	0.246	0.55340	.	.	0.649541849935	0.64662	0.6092801954649615	0.60860	0.721910596354	0.62253	0.572447240353	0.49024	T	0.030568	0.30764	T	-0.136116	0.30510	T	0.0286514	0.72191	D	0.0493454970419407	0.05384	T	0.963804	0.86607	D	0.25921568	0.48974	0.26098907	0.51871	0.24895392	0.47886	0.2349598	0.48726	-3.378	0.14762	T	0.2869922312430179	0.38310	0.212	0.47382	B	.;.	.;.	4.705053	0.75534	26.3	0.9995048659989606	0.99938	0.99260	0.93590	D	AEFGBI	0.860511	0.77838	D	0.72227418753605	0.81093	7.442052	0.733636679200362	0.84931	8.431703	0.999999999999306	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	8.146000	0.89551	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.518	0.95164	851	0.35303	WASH complex subunit 7, N-terminal;WASH complex subunit 7, 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	0.003030	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.003788	0.05	887.43	34	chr12	105126095	.	G	A	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.96;DP=392;ExcessHet=0;FS=4.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.61;SOR=1.248	GT:AD:DP:GQ:PL	0/1:43,35:78:99:899,0,939	9	0	1	0
chr12	112043740	112043740	G	A	exonic	NAA25	.	nonsynonymous SNV	NAA25:NM_024953:exon18:c.C2135T:p.S712L	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0384994936889	.	.	0.0001	0	0.0002	0	0	5.998e-05	0.0022	0.0006	0.0001164	18	154602	rs751642260	0.0001	0.0001	8.439e-05	0.0001	0.0016	0.0001	9.633e-05	0.0008	0.0006	0	0.0002	0	0	1.872e-05	0.0016	7.194e-05	0.0001	0.0008	9.198e-05	9.187e-05	0.0001	5.375e-05	0.0004	5.527e-05	4.364e-05	9.049e-05	7.013e-05	0	0	6.544e-05	0	0	0	0	0.0002	0	0.0004	0.009	0.57480	D	0.009	0.66756	D	0.992	0.64738	D	0.543	0.48966	P	0.000008	0.62929	D	0.065335	1	0.81001	D	2.175	0.60977	M	1.84	0.24656	T	-1.23	0.31170	N	0.49	0.52386	-1.1346	0.01574	T	0.067	0.27434	T	10	0.17185768	0.31927	T	0.038499	0.58257	D	0.140	0.37593	.	.	0.102598925029	0.09809	0.4762433543397611	0.47544	0.984425732197	0.73851	0.51689696312	0.41189	T	0.010988	0.09859	T	-0.267331	0.12056	T	-0.260985	0.48727	T	0.199279843438852	0.20376	T	0.955704	0.83186	D	0.104215756	0.24636	0.15762152	0.36848	0.104215756	0.24636	0.15762152	0.36847	-4.969	0.36501	T	.	.	0.099	0.16713	B	.	.	4.494942	0.70253	25.5	0.99890766374674844	0.96513	0.99656	0.98396	D	AEFBI	0.860245	0.77808	D	0.460588642701533	0.64807	4.743657	0.571146609334454	0.72880	5.880149	0.999999977127608	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	9.460000	0.96806	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	20.047	0.97612	130	0.94779	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1267.43	33	chr12	112043740	.	G	A	1267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.598;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.979;SOR=0.646	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1279,0,1035	9	0	1	0
chr12	113436763	113436763	C	-	exonic	SDSL	.	frameshift deletion	SDSL:NM_001304993:exon7:c.684delC:p.L229Wfs*30,SDSL:NM_138432:exon8:c.684delC:p.L229Wfs*30	.	409	1092	19	2	0	23	0.0104214	.	.	.	713348	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0072	0.00199681	0.0053	0.0007	0.0043	0	0.0002	0.0081	0.0026	0.0017	0.0005763	15	26028	rs573188148	0.0050	0.0050	0.0050	0.0050	0.0153	0.0049	0.0049	0.0127	0.0118	0.0010	0.0064	0.0313	0.0001	0.0007	0.0153	0.0049	0.0064	0.0015	0.0044	0.0044	0.0043	0.0045	0.0062	0.0041	0.0040	0.0052	0.0050	0.0009	0	0.0062	0.0320	0.0002	0.0005	0.0102	0.0057	0.0123	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015625	0.005102	0.027174	0.020468	0.000000	0.017241	0.012195	0.000000	0.05	887.39	36	chr12	113436762	.	GC	G	887.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=387;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.563;SOR=0.817	GT:AD:DP:GQ:PL	0/1:32,29:61:99:899,0,1012	9	0	1	0
chr12	119472023	119472023	G	T	exonic	CCDC60	.	nonsynonymous SNV	CCDC60:NM_178499:exon3:c.G200T:p.R67L	.	387	1130	4	0	1	5	0.00176678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.019408702323	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs144740799	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.008	0.67890	D	0.98	0.59353	D	0.83	0.59611	P	0.023712	0.26392	N	0.253027	0.993426	0.23714	N	2.14	0.59869	M	1.73	0.26445	T	-3.6	0.69357	D	0.6	0.61849	-1.0481	0.14932	T	0.096	0.36212	T	9	0.51543266	0.62338	D	0.019409	0.41765	T	0.187	0.46274	0.534	0.64293	0.112648838833	0.10856	0.28828721464385365	0.28741	0.395261828692	0.40672	0.297939181328	0.10094	T	0.048589	0.28061	T	-0.130194	0.31464	T	-0.424791	0.30527	T	0.753589034080505	0.43486	D	0.743326	0.36245	T	0.10240317	0.24197	0.14615414	0.34636	0.10240317	0.24197	0.14615414	0.34635	-3.989	0.23639	T	.	.	0.287	0.51951	B	.	.	2.639149	0.34336	19.60	0.99129303801406465	0.53222	0.38661	0.26038	N	AEFBI	0.091700	0.18571	N	-0.378587766371802	0.26233	1.430169	-0.514611729863784	0.21757	1.178451	2.09772574773633E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.22	2.0	0.25495	0.935000	0.28523	1.210000	0.24900	-0.700000	0.04059	0.475000	0.26761	0.596000	0.25695	0.139000	0.19909	0.399:0.0:0.601:0.0	5.457	0.15894	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1672.43	33	chr12	119472023	.	G	T	1672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=438;ExcessHet=0;FS=1.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.187;SOR=0.537	GT:AD:DP:GQ:PL	0/1:54,66:120:99:1684,0,1097	9	0	1	0
chr12	121184747	121184747	G	A	exonic	P2RX7	.	nonsynonymous SNV	P2RX7:NM_002562:exon13:c.G1733A:p.R578Q	.	415	1089	17	1	0	19	0.00864816	.	.	.	437949	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.0248566436925	0.0025	0.00319489	0.0061	0.0005	0.0052	0	0	0.0070	0	0.0077	0.0025485	394	154602	rs28360460	0.0054	0.0053	0.0053	0.0055	0.0081	0.0053	0.0052	0.0075	0.0073	0.0010	0.0025	0.0053	0.0001	0.0013	0.0067	0.0058	0.0047	0.0081	0.0034	0.0034	0.0035	0.0032	0.0058	0.0031	0.0030	0.0048	0.0046	0.0010	0	0.0029	0.0046	0.0004	0.0009	0.0034	0.0052	0.0071	0.0058	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.932	0.66722	D	0.000568	0.43250	D	0.000000	0.996597	0.43297	D	2.78	0.81115	M	.	.	.	.	.	.	0.762	0.76019	-0.6451	0.62926	T	0.175	0.51927	T	10	0.010714412	0.00237	T	0.024857	0.47845	T	0.292	0.61157	.	.	0.828905317767	0.82728	0.8286462745371947	0.82822	.	.	0.455148756504	0.32647	T	0.267225	0.63924	T	0.0604773	0.59672	T	0.31824	0.89017	D	0.0185732544201584	0.00572	T	0.892511	0.62902	D	0.13353944	0.31056	0.19491485	0.43139	0.13353944	0.31056	0.19491485	0.43139	-5.238	0.39326	T	0.7238937996200687	0.80517	0.223	0.45409	B	.	.	5.066532	0.84472	28.3	0.99949572079195992	0.99938	0.94025	0.59887	D	AEFDGBHCI	0.792576	0.72083	D	0.811249774334158	0.86804	9.004653	0.750582436068223	0.86199	8.813995	0.999999999995612	0.74766	0.490419	0.18000	1	0.588066	0.40923	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.119000	0.76770	8.479000	0.77294	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	16.045	0.80517	527	0.73864	.	.	.	.	.	.	Likely benign	0	0	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	0.007209	0.005319	0.005510	0.008876	0.000000	0.008772	0.006329	0.019380	0.05	790.43	35	chr12	121184747	.	G	A	790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=394;ExcessHet=0;FS=3.731;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.213;SOR=0.307	GT:AD:DP:GQ:PL	0/1:28,31:59:99:802,0,674	9	0	1	0
chr12	122579974	122579974	A	G	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon32:c.A2911G:p.K971E	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0108903088507	0.0002	.	0.0002	0.0001	0.0011	0	0	0.0002	0	0.0001	0.0001682	26	154602	rs200477285	0.0002	0.0002	0.0002	0.0002	0.0104	0.0001	0.0001	0.0083	0.0076	6.023e-05	0.0004	0.0002	0	0	0.0104	0.0001	0.0004	3.494e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.692e-05	0.0001	9.897e-05	2.405e-05	0	0.0002	0	0	0	0.0170	0.0002	0.0009	0	0.234	0.18061	T	0.037	0.51737	D	0.297	0.32486	B	0.129	0.32841	B	0.000043	0.53742	D	0.160344	0.857962	0.81001	D	2.445	0.70938	M	2.11	0.19860	T	-1.83	0.42957	N	0.545	0.57177	-1.0994	0.04164	T	0.056	0.23565	T	10	0.12717187	0.24183	T	0.01089	0.27936	T	0.122	0.33800	.	.	0.454426139905	0.45068	0.5104320956763001	0.50965	0.0628820753359	0.07001	0.466210365295	0.34162	T	0.051128	0.28791	T	-0.281006	0.10561	T	-0.313462	0.43286	T	0.0685018938221835	0.08440	T	0.792121	0.43364	T	0.1981799	0.41711	0.22878513	0.47931	0.1981799	0.41711	0.22878513	0.47930	-3.143	0.11797	T	.	.	0.108	0.20313	B	.	.	3.505322	0.49059	22.7	0.9963915394630023	0.76571	0.98722	0.86019	D	AEFDBI	0.538939	0.55612	D	0.156499392512484	0.49119	3.115997	0.308690926340086	0.56050	3.767888	0.99979190067334	0.43153	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	6.784000	0.74858	6.893000	0.56847	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	14.563	0.67748	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.005435	0.014620	0.000000	0.008621	0.000000	0.000000	0.05	475.43	33	chr12	122579974	.	A	G	475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.864;DP=341;ExcessHet=0;FS=2.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-1.072;SOR=0.839	GT:AD:DP:GQ:PL	0/1:20,23:43:99:487,0,490	9	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E,DNAH10:NM_001372106:exon63:c.C10746A:p.D3582E	.	428	1031	62	1	0	64	0.0301035	.	.	.	3512179	DNAH10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.013587	0.005848	0.050000	0.008621	0.021341	0.034091	0.05	849.43	35	chr12	123916480	.	C	A	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.382;DP=420;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-1.123;SOR=0.543	GT:AD:DP:GQ:PL	0/1:65,41:106:99:861,0,1521	9	0	1	0
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F,NCOR2:NM_001206654:exon11:c.C913T:p.L305F,NCOR2:NM_006312:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	191.14	45	chr12	124430757	.	G	A	191.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.9;DP=766;ExcessHet=0.2348;FS=262.978;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.621;SOR=8.885	GT:AD:DP:GQ:PL	0/1:105,38:143:85:85,0,1677	8	0	2	0
chr12	129074683	129074683	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2492T:p.S831L	.	424	1039	58	1	0	60	0.0280636	.	.	.	702224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0065	0.00239617	0.0077	0.0013	0.0063	0	0.0074	0.0104	0.0132	0.0056	0.0074967	1159	154602	rs140762080	0.0084	0.0084	0.0083	0.0084	0.0534	0.0082	0.0082	0.0485	0.0466	0.0024	0.0068	0.0300	2.519e-05	0.0068	0.0534	0.0083	0.0102	0.0062	0.0069	0.0070	0.0070	0.0069	0.0090	0.0066	0.0065	0.0084	0.0082	0.0020	0	0.0075	0.0251	0.0002	0.0082	0.0578	0.0090	0.0128	0.0062	0.636	0.05452	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	0.086311	0.02407	N	1.932640	1	0.08975	N	-1.21	0.00826	N	2.93	0.09822	T	-0.43	0.17834	N	0.048	0.01999	-1.0013	0.29545	T	0.007	0.02360	T	9	0.005143881	0.00112	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.15545238082319554	0.15466	0.210139789538	0.23496	0.204422041774	0.00596	T	0.004765	0.04174	T	-0.732468	0.00023	T	-0.817667	0.01500	T	0.000768673486481051	0.00007	T	0.107489	0.00805	T	0.028566381	0.02214	0.021326654	0.00188	0.028566381	0.02214	0.021326654	0.00188	-4.989	0.36720	T	.	.	0.054	0.00375	B	.;.	.;.	0.246131	0.06257	2.713	0.12776534085229038	0.00232	0.01860	0.05742	N	AEFBI	0.059169	0.11156	N	-1.48779133580879	0.01936	0.08496802	-1.48934994486925	0.02431	0.1117993	2.7351116049582E-5	0.03498	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	-2.15	0.06705	0.051000	0.14025	-0.599000	0.08280	-0.531000	0.04959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3823:0.2003:0.2121:0.2054	0.365	0.00345	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	0.034240	0.020202	0.033967	0.046784	0.000000	0.034483	0.036585	0.018939	0.05	3644.43	34	chr12	129074683	.	G	A	3644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=717;ExcessHet=0;FS=1.875;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.415;SOR=0.628	GT:AD:DP:GQ:PL	0/1:160,150:310:99:3656,0,3730	9	0	1	0
chr12	132020180	132020180	C	T	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon22:c.C4409T:p.P1470L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.0195596398276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs890935063	8.918e-06	8.893e-06	8.189e-06	9.655e-06	0.0003	4.98e-06	3.83e-06	6.099e-05	2.524e-05	0	0	0	2.54e-05	0	0.0003	8.106e-06	0	1.173e-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	0.001	0.78490	D	0.002	0.79402	D	0.948	0.53620	P	0.325	0.41883	B	0.000066	0.52346	D	0.171847	0.999964	0.52935	D	.	.	.	-2.61	0.90017	D	-2.0	0.77965	N	0.318	0.41459	0.099	0.84160	D	0.596	0.85582	D	10	0.35261542	0.52086	T	0.01956	0.41954	T	0.412	0.72328	.	.	0.466077763902	0.46236	0.133692466304964	0.13293	0.457208605773	0.45367	0.528920769691	0.42882	T	.	.	.	-0.0842131	0.39028	T	-0.186285	0.55937	T	0.79863166809082	0.46261	D	0.893911	0.63238	D	.	.	.	.	.	.	.	.	-6.012	0.46381	T	.	.	0.125	0.26514	B	.;.	.;.	4.132289	0.61850	24.4	0.99067865736980576	0.51645	0.99715	0.98907	D	AEFDBI	0.656220	0.62828	D	0.360789830590521	0.59313	4.109515	0.445025634617636	0.64398	4.694081	0.999999950984105	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	5.007000	0.63738	7.589000	0.61191	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.503000	0.29084	0.0:1.0:0.0:0.0	19.516	0.95159	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2592.12	35	chr12	132020180	.	C	T	2592.12	.	AC=2;AF=0.1;AN=20;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.5;SOR=1.694	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2615,255,0	9	1	0	0
chr12	132148829	132148829	G	A	exonic	NOC4L	.	nonsynonymous SNV	NOC4L:NM_024078:exon9:c.G835A:p.A279T	.	.	.	.	.	.	.	.	.	.	.	3355406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.00616720140233	0.0007	0.000199681	0.0010	0.0004	0.0015	0.0001	0	0.0012	0.0032	0.0009	0.0007374	114	154602	rs140762828	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0.0003	0.0005	0.0003	2.523e-05	2.163e-05	0.0014	0.0001	0.0004	0.0001	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0003	0	0.0013	0	0.0002	0	0.0216	0.0003	0.0005	0.0002	0.207	0.19854	T	0.445	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	0.191651	0.16830	N	0.637248	1	0.08975	N	0.28	0.10031	N	1.56	0.29602	T	0.08	0.06026	N	0.338	0.37923	-1.0907	0.05416	T	0.024	0.10103	T	10	0.01662454	0.00351	T	0.006167	0.16170	T	0.238	0.54217	.	.	0.183819452728	0.17975	0.4869934369728534	0.48619	.	.	0.300271511078	0.10441	T	0.044051	0.26695	T	-0.353718	0.04498	T	-0.448308	0.27883	T	0.0184311456517339	0.00560	T	0.684232	0.29249	T	0.016634857	0.00211	0.03344463	0.02239	0.016634857	0.00211	0.03344463	0.02239	-4.634	0.32596	T	.	.	0.063	0.04640	B	.;.	.;.	0.424665	0.07954	4.662	0.90580583858532193	0.19835	0.03040	0.07930	N	AEFI	0.038140	0.05353	N	-1.63202479994846	0.01113	0.04832853	-1.73064430748426	0.01008	0.04519675	0.914462908177407	0.26454	0.732398	0.92422	0	0.643519	0.57511	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	5.35	-10.2	0.00305	0.252000	0.18046	-1.299000	0.05779	-1.832000	0.00589	0.053000	0.21524	0.000000	0.08366	0.001000	0.02609	0.3676:0.0619:0.3916:0.1789	3.972	0.08948	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	0.011513	0.034091	0.015068	0.004000	0.000000	0.017241	0.000000	0.003937	0.1	1928.12	33	chr12	132148829	.	G	A	1928.12	.	AC=2;AF=0.1;AN=20;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.21;SOR=1.574	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1951,198,0	9	1	0	0
chr12	132665431	132665431	G	A	exonic	POLE	.	nonsynonymous SNV	POLE:NM_006231:exon21:c.C2339T:p.S780L	FILS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	398714	not_provided|POLE-related_disorder|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.193	0.016639674134	.	.	8.279e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs778288256	3.153e-05	3.215e-05	3.819e-05	2.479e-05	0.0003	2.417e-05	2.162e-05	6.094e-05	2.522e-05	0	4.473e-05	0	0	0	0.0003	3.778e-05	0	0	1.973e-05	1.97e-05	3.856e-05	0	4.41e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.009	0.57480	D	0.255	0.23365	T	0.675	0.48784	P	0.509	0.47904	P	0.000000	0.84330	D	0.055226	0.999934	0.19363	N	2.045	0.56016	M	2.24	0.17923	T	-3.25	0.65283	D	0.572	0.63204	-1.0907	0.05416	T	0.054	0.22883	T	10	0.5519331	0.64304	D	0.01664	0.37992	T	0.193	0.47281	0.47	0.54376	0.451599300725	0.44785	0.39469590154459505	0.39384	0.825720942332	0.67392	0.51474571228	0.40887	T	0.277823	0.65045	T	-0.254165	0.13593	T	-0.42702	0.30274	T	0.756516575813293	0.43652	D	0.908809	0.67676	D	0.2630334	0.49366	0.26682088	0.52532	0.2630334	0.49366	0.26682088	0.52531	-9.951	0.73618	D	0.3270863527388932	0.42521	0.070	0.03515	B	.;.	.;.	3.559497	0.50079	22.9	0.9934373827422005	0.60291	0.92746	0.56445	D	AEFDBI	0.496561	0.53145	N	0.0235795000812611	0.42927	2.595941	-0.0485529157066091	0.37552	2.200334	0.999995497966672	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	3.81	0.43020	6.640000	0.74174	4.675000	0.44295	0.605000	0.46263	1.000000	0.71638	0.989000	0.31174	0.018000	0.11154	0.0696:0.1412:0.7892:0.0	11.149	0.47674	900	0.24599	DNA-directed DNA polymerase, family B, multifunctional domain;DNA-directed DNA polymerase, family B, multifunctional 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	.	.	.	.	.	.	.	.	0.1	2260.12	34	chr12	132665431	.	G	A	2260.12	.	AC=2;AF=0.1;AN=20;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.61;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2283,237,0	9	1	0	0
chr13	20512513	20512513	T	C	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon2:c.A79G:p.S27G,CRYL1:NM_015974:exon2:c.A79G:p.S27G	.	8	1511	3	0	0	3	0.000991736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0238275151096	0.0003	0.000199681	0.0002	0	0.0004	0	0	0.0002	0	0.0003	0.0001876	29	154602	rs201748334	0.0001	0.0001	9.121e-05	0.0001	0.0019	9.05e-05	8.532e-05	0.0011	0.0008	0	0.0001	0.0013	0	0	0.0019	4.676e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0002	0.0008	8.657e-05	7.25e-05	0.0003	0.0002	0	0	0.0001	0.0014	0	0	0.0034	0.0001	0.0005	0.0008	0.244	0.17468	T	0.485	0.12421	T	0.207	0.29891	B	0.149	0.34106	B	0.000001	0.84330	N	0.126220	0.99937	0.50595	D	1.52	0.38360	L	-1.09	0.77206	T	-1.03	0.28084	N	0.186	0.20262	-0.8065	0.54760	T	0.282	0.65359	T	10	0.043402553	0.03186	T	0.023828	0.46806	T	0.166	0.42578	.	.	0.574533306093	0.57122	0.53266866701041	0.53191	0.231166425372	0.25661	0.490114033222	0.37455	T	0.253714	0.62428	T	-0.269384	0.11826	T	-0.328536	0.41631	T	0.0275458127256736	0.01622	T	0.777122	0.42203	T	0.20102571	0.42098	0.07880914	0.17684	0.20102571	0.42098	0.07880914	0.17684	-8.392	0.63712	D	.	.	0.076	0.13830	B	.;.;.;.	.;.;.;.	1.848353	0.23484	16.03	0.92254471279087458	0.21634	0.66991	0.33272	D	AEFBI	0.264074	0.38149	N	-0.237997059770668	0.31585	1.772544	-0.114564582281258	0.34802	2.006075	0.918479003275392	0.26573	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.65	3.24	0.36257	0.664000	0.24749	1.142000	0.24413	-0.674000	0.04282	1.000000	0.71638	1.000000	0.68203	0.273000	0.23843	0.1359:0.152:0.0:0.7121	4.998	0.13597	728	0.54609	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.006135	0.000000	0.05	697.43	33	chr13	20512513	.	T	C	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.208;DP=391;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.413;SOR=0.882	GT:AD:DP:GQ:PL	0/1:31,32:63:99:709,0,705	9	0	1	0
chr13	23341643	23341643	G	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.C1792T:p.R598C,SACS:NM_014363:exon10:c.C2233T:p.R745C	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	588936	not_provided|Spastic_paraplegia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0605284500402	.	.	8.559e-06	0	0	0	0	1.568e-05	0	0	6.5e-06	1	154602	rs536614181	2.053e-05	2.052e-05	1.907e-05	2.201e-05	2.52e-05	1.457e-05	1.264e-05	1.627e-05	1.382e-05	0	0	0	2.52e-05	0	0	2.338e-05	3.312e-05	1.159e-05	2.628e-05	2.625e-05	0	5.374e-05	6.541e-05	8.14e-06	5.14e-06	7.98e-06	2.99e-06	4.816e-05	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.998	0.73220	D	0.916	0.65201	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	2.16	0.19166	T	-2.71	0.57762	D	0.908	0.90932	-0.4324	0.70988	T	0.367	0.72712	T	10	0.62384486	0.68130	D	0.060528	0.68029	D	0.419	0.72855	.	.	0.585564602418	0.58230	0.6076659961182759	0.60698	.	.	0.742390453815	0.73325	T	0.547116	0.84598	D	0.236653	0.77347	D	0.102159	0.77053	D	0.90763384103775	0.56198	D	0.975102	0.91204	D	0.35253352	0.57263	0.2726602	0.53179	0.35253352	0.57263	0.2726602	0.53178	-3.953	0.23098	T	0.6627424212363653	0.73649	0.600	0.74570	P	.;.	.;.	5.469122	0.91250	32	0.99944440976944071	0.99868	0.98746	0.86321	D	AEFBI	0.907993	0.86272	D	0.583564634316321	0.72149	5.760493	0.669621475805427	0.80078	7.219858	0.999999999945875	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	7.618000	0.82239	9.985000	0.82948	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8603:0.1397	15.333	0.73940	986	0.02773	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1326.43	78	chr13	23341643	.	G	A	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.372;DP=633;ExcessHet=0;FS=3.131;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.558;SOR=0.478	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1338,0,1653	9	0	1	0
chr13	38856158	38856158	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon12:c.G6958A:p.V2320M	Fraser syndrome, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1965760	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00859311159962	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1268483221	2.056e-05	2.394e-05	2.046e-05	2.066e-05	0.0002	1.459e-05	1.266e-05	1.546e-05	1.307e-05	0	0	3.834e-05	0	0	0.0002	2.253e-05	1.659e-05	2.32e-05	2.63e-05	3.284e-05	3.855e-05	1.347e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.411e-05	0	0	0.367	0.11659	T	0.111	0.37173	T	.	.	.	.	.	.	0.542004	0.11526	N	0.812008	1	0.08975	N	.	.	.	1.56	0.29602	T	-0.45	0.14782	N	0.042	0.01498	-1.0455	0.15680	T	0.039	0.16806	T	10	0.04443863	0.03401	T	0.008593	0.22705	T	0.007	0.00512	0.37	0.38013	0.12205267543	0.11705	0.096399513463844	0.09571	0.273909488683	0.29889	0.190838068724	0.00240	T	.	.	.	-0.361805	0.04028	T	-0.757484	0.03203	T	0.0234837524857614	0.01081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05231	B	.	.	-0.776651	0.01153	0.054	0.72955972458776031	0.10155	0.01782	0.05581	N	AEFI	0.048812	0.08368	N	-1.44660929531025	0.02243	0.09886103	-1.53700363083537	0.02067	0.09450312	0.993460604108353	0.33226	0.706298	0.61202	0	0.624306	0.53593	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.98	-7.13	0.01379	-0.853000	0.04412	-3.256000	0.02930	-0.774000	0.03397	0.000000	0.06391	0.000000	0.08366	0.546000	0.30079	0.2033:0.0954:0.4579:0.2434	4.513	0.11327	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	.	.	.	.	.	.	.	.	0.05	421.43	36	chr13	38856158	.	G	A	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=372;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.827;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,20:53:99:0|1:38856158_G_A:433,0,697:38856158	9	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	.	.	.	.	.	.	.	.	0.375	829.52	139	chr13	38859428	.	G	C	829.52	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-3.772;DP=1447;ExcessHet=4.5998;FS=263.084;InbreedingCoeff=-0.5678;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.69;SOR=11.973	GT:AD:DP:GQ:PL	0/1:101,40:157:66:66,0,1511	2	0	6	2
chr13	38880701	38880701	-	G	exonic	FREM2	.	frameshift insertion	FREM2:NM_207361:exon24:c.9425dupG:p.K3144Efs*11	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	5.039e-05	2.3e-07	9e-08	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	896.39	36	chr13	38880701	.	A	AG	896.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.45;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.306;SOR=0.709	GT:AD:DP:GQ:PL	0/1:41,36:77:99:908,0,1075	9	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	1521.44	33	chr13	42303097	.	G	C	1521.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.533;DP=1112;ExcessHet=7.0302;FS=278.586;InbreedingCoeff=-0.5475;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.958;SOR=11.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,27:114:99:.:.:167,0,2197:.	3	0	7	0
chr13	52455575	52455575	C	T	exonic	CKAP2	.	nonsynonymous SNV	CKAP2:NM_001098525:exon1:c.C19T:p.P7S,CKAP2:NM_001286687:exon1:c.C19T:p.P7S,CKAP2:NM_018204:exon1:c.C19T:p.P7S	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0113011621935	0.0002	.	7.707e-05	0.0001	0	0	0	9.456e-05	0	0.0001	7.12e-05	11	154602	rs146292755	6.78e-05	6.84e-05	6.678e-05	6.882e-05	0.0007	5.676e-05	5.266e-05	0.0002	0.0001	2.997e-05	0	0	0	0	0.0007	6.747e-05	0.0001	0.0001	6.571e-05	6.567e-05	7.71e-05	5.38e-05	9.65e-05	3.517e-05	2.616e-05	3.762e-05	2.575e-05	9.65e-05	0	0	0	0	0	0	8.821e-05	0	0	0.029	0.45756	D	0.048	0.48594	D	0.985	0.61118	D	0.833	0.59784	P	0.159350	0.17712	N	0.515189	1	0.08975	N	1.905	0.50856	L	1.45	0.32482	T	-2.25	0.50337	N	0.381	0.42247	-0.7867	0.55921	T	0.136	0.45203	T	10	0.12966838	0.24673	T	0.011301	0.28784	T	0.099	0.28413	.	.	0.382087116544	0.37822	0.1481453873107574	0.14736	0.208740247502	0.23342	0.448990106583	0.31805	T	0.250815	0.62096	T	-0.356116	0.04355	T	-0.489633	0.23429	T	0.42606595158577	0.29915	T	0.728227	0.34274	T	0.048116677	0.08333	0.085074045	0.19616	0.048116677	0.08333	0.085074045	0.19615	-2.776	0.08576	T	.	.	0.200	0.43935	B	.;.;.	.;.;.	2.327715	0.29814	18.24	0.99791885123388246	0.87750	0.71804	0.35172	D	AEFGBHCIJ	0.042212	0.06520	N	-0.0482736472876643	0.39678	2.343894	-0.234650458108159	0.30304	1.705081	0.999999999999743	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.08	4.23	0.49319	1.270000	0.32689	0.352000	0.17487	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	0.1848:0.8152:0.0:0.0	10.992	0.46771	612	0.66786	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001520	0.010204	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1384.43	33	chr13	52455575	.	C	T	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.817;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.134;SOR=0.638	GT:AD:DP:GQ:PL	0/1:37,58:95:99:1396,0,812	9	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	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:77,44:127:99:241,0,1013	0	0	10	0
chr13	102740391	102740391	G	A	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C10306T:p.R3436W	.	424	1046	49	3	0	55	0.0256171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0157	0.0023	0	0	0	0.0072	0.0105	0.0306	0.0032794	507	154602	rs117074021	0.0094	0.0090	0.0087	0.0101	0.0299	0.0092	0.0092	0.0289	0.0285	0.0015	0.0038	0.0013	2.8e-05	0.0058	0.0208	0.0088	0.0099	0.0299	0.0060	0.0060	0.0063	0.0057	0.0237	0.0057	0.0055	0.0202	0.0188	0.0016	0	0.0042	0.0009	0.0004	0.0044	0.0238	0.0088	0.0043	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.0030212104	0.00049	T	.	.	.	.	.	.	.	.	.	0.0961978917482667	0.09551	.	.	0.254358440638	0.04241	T	.	.	.	-0.526409	0.00403	T	-0.507297	0.21594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27880	B	.	.	1.077765	0.14608	11.17	0.57589132933474618	0.05803	0.00835	0.03355	N	AEFBI	.	.	.	.	.	.	.	.	.	0.799362739752337	0.24158	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0503841	0.09711	3.58	1.15	0.19876	-0.032000	0.12217	-0.419000	0.09297	-0.785000	0.03297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.0:0.2288:0.5756	4.231	0.10056	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	0.021021	0.006579	0.000000	0.024272	0.000000	0.071429	0.043478	0.031250	0.05	1555.43	122	chr13	102740391	.	G	A	1555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.82;DP=932;ExcessHet=0;FS=4.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.354;SOR=0.429	GT:AD:DP:GQ:PL	0/1:80,59:139:99:1567,0,1889	9	0	1	0
chr13	110456941	110456941	-	GTG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.783_784insCAC:p.Q261_G262insH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.39e-05	0.0001	0.0001	0.0002	0.0001	0.0001	9.816e-05	8.405e-05	0.0002	0.0001	0.0004	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0009	0.0012	0.0010	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0008	0	0.0006	0.0012	0.0005	0.0006	0	0.0011	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1073.39	27	chr13	110456941	.	C	CGTG	1073.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.01;DP=492;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.06;MQRankSum=4.56;QD=12.93;ReadPosRankSum=2;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,66:83:99:0|1:110456941_C_CGTG:1085,0,172:110456941	9	0	1	0
chr13	110456942	110456942	-	GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAC:p.Q261delinsHGISPTDAWGPTQT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0003	0.0003	0.0008	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0009	0.0002	0.0002	0	0.0002	0.0001	0.0003	0.0006	0.0008	0.0005	0.0007	0.0011	0.0004	0.0004	0.0005	0.0004	0.0009	0	0.0011	0.0008	0.0005	0.0003	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2340.05	20	chr13	110456942	.	C	CGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	2340.05	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.26;DP=475;ExcessHet=2.5225;FS=8.983;InbreedingCoeff=-0.3156;MLEAC=1;MLEAF=0.1;MQ=52.02;MQRankSum=4.13;QD=12.72;ReadPosRankSum=-2.814;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,66:83:99:0|1:110456941_C_CGTG:1084,0,173:110456941	4	0	1	5
chr13	112547598	112547598	G	A	exonic	TUBGCP3	.	nonsynonymous SNV	TUBGCP3:NM_001286279:exon10:c.C1190T:p.T397M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-05	0.0003	0	0	0	0.0001	0	0	8.41e-05	13	154602	rs770899850	7.125e-05	9.039e-05	7.757e-05	6.471e-05	0.0004	5.94e-05	5.513e-05	7.347e-05	6.258e-05	3.589e-05	3.781e-05	0	0	0	0.0004	8.214e-05	7.508e-05	1.503e-05	0.0001	0.0003	0.0002	0.0001	0.0003	9.908e-05	8.398e-05	0.0001	0.0001	0.0003	0	6.604e-05	0	0	0	0	0.0001	0	0.0002	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.051564485	0.05056	T	.	.	.	.	.	.	.	0.189391138174	0.18552	.	.	.	.	.	.	.	0.011851	0.10509	T	-0.463508	0.00934	T	-0.903574	0.00478	T	.	.	.	0.350365	0.07800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22753	B	.	.	0.295483	0.06715	3.223	0.88629861284652589	0.18128	0.00152	0.00917	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.790462036562553	0.24006	0.156188	0.03335	0	0.156173	0.03658	0	0.125526	0.03468	0	0.117559	0.03655	0	0.0483959	0.07925	1.44	1.44	0.21647	-0.047000	0.11917	1.017000	0.23376	0.000000	0.17513	0.388000	0.26071	0.361000	0.24521	0.097000	0.18139	0.7665:0.0:0.2335:0.0	3.406	0.06917	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	.	.	.	.	.	.	.	.	0.05556	1283.19	36	chr13	112547598	.	G	A	1283.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.04;DP=775;ExcessHet=0;FS=3.199;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=1.87;SOR=0.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,52:121:99:.:.:1294,0,1710:.	8	0	1	1
chr14	19434255	19434255	G	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.C35T:p.S12F	.	424	1028	70	0	0	70	0.0329257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00274045050288	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201677121	0.0004	0.0036	0.0004	0.0004	0.0031	0.0004	0.0004	0.0020	0.0016	0.0003	9.007e-05	0.0001	0.0019	0.0005	0.0031	0.0003	0.0004	0.0008	0.0003	0.0021	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0.0004	0	0.0002	0.0003	0.0014	0.0002	0	8.871e-05	0	0.0013	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.43672	T	-1.65	0.39503	N	0.242	0.27316	-1.0024	0.29226	T	0.134	0.44700	T	6	0.07944286	0.12781	T	0.00274	0.05665	T	.	.	0.283	0.23961	0.082315109003	0.07666	0.0034511176337462834	0.00322	.	.	0.526948750019	0.42605	T	0.00792	0.07293	T	-0.190138	0.22238	T	-0.510896	0.21224	T	0.271757781505585	0.23823	T	0.808619	0.45852	T	0.101636544	0.24010	0.2045223	0.44580	0.101636544	0.24009	0.2045223	0.44579	-5.745	0.44092	T	.	.	0.184	0.39848	B	.	.	2.220525	0.28336	17.76	0.99353790175040035	0.60697	0.00320	0.01682	N	AEFI	0.028633	0.02560	N	-0.599969604237224	0.18946	0.9877301	-0.893078979628855	0.12257	0.6294545	1.25036481235123E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.107000	0.10843	0.473000	0.18731	0.301000	0.18947	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1005.05	183	chr14	19434255	.	G	A	1005.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.128;DP=2516;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=35.37;MQRankSum=-0.8;QD=6.4;ReadPosRankSum=-0.082;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,50:157:99:0|1:19434255_G_A:1016,0,3983:19434255	8	0	1	1
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1875	429.12	88	chr14	20747837	.	G	A	429.12	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-3.181;DP=752;ExcessHet=0.7463;FS=409.242;InbreedingCoeff=-0.2855;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=-0.009;SOR=9.108	GT:AD:DP:GQ:PL	0/1:53,30:83:99:199,0,976	5	0	3	2
chr14	21030666	21030666	A	G	exonic	TPPP2	.	nonsynonymous SNV	TPPP2:NM_173846:exon2:c.A85G:p.N29D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0438537724956	.	.	1.676e-05	0	0	0	0	1.515e-05	0.0011	0	1.29e-05	2	154602	rs764259293	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0002	2.9e-06	2.1e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	4.967e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.007	0.59928	D	0.035	0.56192	D	0.653	0.40782	P	0.73	0.55268	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.255	0.89877	M	0.9	0.45248	T	-3.71	0.78046	D	0.92	0.92667	-0.5806	0.65593	T	0.261	0.63197	T	10	0.6354138	0.68753	D	0.043854	0.61196	D	0.323	0.64522	0.641	0.77795	0.0482279557977	0.04254	0.7867771380887452	0.78629	0.383491331822	0.39670	0.715448617935	0.69383	T	0.138526	0.54803	T	-0.055586	0.43593	T	-0.253976	0.49423	T	0.93588262796402	0.60445	D	0.940706	0.90499	D	0.58786243	0.72035	0.6907724	0.81804	0.58786243	0.72036	0.6907724	0.81805	-9.759	0.72456	D	.	.	0.924	0.84533	P	.;.;.;.;.	.;.;.;.;.	3.850588	0.55778	23.7	0.99771297664001013	0.85918	0.97750	0.76862	D	AEFGBI	0.926631	0.90803	D	0.610100037089316	0.73814	6.027828	0.579239333303609	0.73453	5.972937	0.999999776660454	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.24	4.1	0.47196	9.325000	0.96006	7.925000	0.74723	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9137:0.0:0.0863:0.0	9.296	0.36978	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	.	.	.	.	.	.	.	.	0.05	1886.43	35	chr14	21030666	.	A	G	1886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.196;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.488;SOR=0.688	GT:AD:DP:GQ:PL	0/1:70,78:148:99:1898,0,1676	9	0	1	0
chr14	21080754	21080754	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon12:c.G326A:p.R109Q,ARHGEF40:NM_001278530:exon12:c.G326A:p.R109Q,ARHGEF40:NM_018071:exon12:c.G2468A:p.R823Q	.	396	1115	11	0	0	11	0.00490852	.	.	.	714051	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	0.0092	0.00878594	0.0039	0.0253	0.0038	0	0.0003	0.0020	0.0057	0.0010	0.0037322	577	154602	rs61734981	0.0023	0.0023	0.0023	0.0022	0.0265	0.0022	0.0022	0.0251	0.0245	0.0265	0.0055	0.0036	0	0.0003	0.0143	0.0015	0.0047	0.0005	0.0092	0.0092	0.0092	0.0091	0.0266	0.0088	0.0086	0.0253	0.0248	0.0266	0	0.0076	0.0029	0	0.0002	0.0204	0.0019	0.0123	0.0010	0.352	0.12226	T	0.139	0.33666	T	0.136	0.27347	B	0.016	0.17743	B	0.013347	0.28869	N	0.165528	0.962772	0.26052	N	0.49	0.13296	N	4.39	0.02234	T	0.7	0.02163	N	0.146	0.14763	-0.8980	0.48195	T	0.003	0.00961	T	10	0.00621292	0.00140	T	.	.	.	0.022	0.04323	.	.	0.330589388543	0.32661	0.0707227173842482	0.07009	0.274884690193	0.29973	0.308119356632	0.11623	T	0.006533	0.05961	T	-0.659213	0.00064	T	-0.699418	0.05858	T	0.00793107673425905	0.00093	T	0.835216	0.50504	T	0.026932659	0.01815	0.03388583	0.02359	0.026932659	0.01814	0.03388583	0.02358	-4.066	0.24787	T	.	.	0.069	0.03026	B	.	.	2.004535	0.25467	16.77	0.95875339350678024	0.28060	0.48092	0.28129	N	AEFBI	0.176021	0.30321	N	-0.332402382419963	0.27925	1.535997	-0.197143582234717	0.31641	1.792593	0.946490455403056	0.27709	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	5.14	3.33	0.37245	1.407000	0.34266	1.638000	0.27776	0.676000	0.76740	0.679000	0.28429	0.003000	0.18671	0.995000	0.73285	0.1799:0.0:0.8201:0.0	7.757	0.28095	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025176	0.090909	0.032609	0.002924	0.000000	0.008621	0.015244	0.000000	0.05	1541.43	43	chr14	21080754	.	G	A	1541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=421;ExcessHet=0;FS=1.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=1.45;SOR=0.793	GT:AD:DP:GQ:PL	0/1:43,60:103:99:1553,0,949	9	0	1	0
chr14	23285925	23285925	C	T	exonic	HOMEZ	.	nonsynonymous SNV	HOMEZ:NM_020834:exon1:c.G28A:p.G10R	.	421	1100	0	1	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.00339457	0.0008	0	0	0	0	0	0	0.0093	0.0001682	26	154602	rs574905765	0.0002	0.0002	0.0002	0.0002	0.0082	0.0001	0.0001	0.0071	0.0068	4.346e-05	0	0	0	0	0	4.351e-06	0.0005	0.0082	0.0003	0.0003	0.0003	0.0004	0.0101	0.0002	0.0002	0.0079	0.0071	0	0	0	0	0	0	0	0	0	0.0101	0.001	0.78490	D	0.014	0.62352	D	0.989	0.62824	D	0.78	0.57283	P	.	.	.	.	0.977914	0.25282	N	0.695	0.17993	N	1.87	0.24085	T	-0.13	0.08971	N	0.532	0.56058	-1.0397	0.17404	T	0.062	0.25672	T	9	0.005702764	0.00127	T	.	.	.	0.151	0.39764	0.14	0.04369	0.263612267334	0.25957	0.2025584626545933	0.20172	0.792395878922	0.65867	0.603882133961	0.53452	T	0.001262	0.00750	T	-0.0885595	0.38314	T	-0.364986	0.37474	T	0.231095100431045	0.22003	T	0.559344	0.19537	T	0.13755773	0.31846	0.36332995	0.61721	0.13755773	0.31846	0.36332995	0.61721	-4.129	0.25716	T	.	.	0.273	0.50727	B	.	.	4.340145	0.66570	25.0	0.99271057017739528	0.57559	0.93361	0.58011	D	ALL	0.479641	0.52170	N	0.170033649029313	0.49764	3.173159	0.241264890870763	0.52155	3.392173	0.999999998939216	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.44	4.55	0.55429	3.797000	0.55219	4.534000	0.43737	-0.224000	0.07868	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1591:0.8409:0.0:0.0	13.338	0.59966	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003922	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.008065	0.05	309.43	35	chr14	23285925	.	C	T	309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.762;DP=333;ExcessHet=0;FS=1.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.13;SOR=0.283	GT:AD:DP:GQ:PL	0/1:13,13:26:99:321,0,276	9	0	1	0
chr14	23531576	23531576	C	T	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon4:c.G2705A:p.R902H	.	393	1114	15	0	0	15	0.00668747	.	.	.	3191719	ZFHX2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.036	.	.	0.0155751	0.0380	0.0162	0.0063	0.0051	0	0.0013	0.0156	0.0733	0.0036545	565	154602	rs148020870	0.0039	0.0038	0.0025	0.0055	0.0568	0.0038	0.0038	0.0554	0.0548	0.0099	0.0014	0	0.0039	0	0.0032	0.0002	0.0051	0.0568	0.0049	0.0049	0.0040	0.0058	0.0566	0.0046	0.0045	0.0511	0.0490	0.0101	0	0.0008	0	0.0023	0	0.0068	0.0002	0.0033	0.0566	0.027	0.46513	D	0.094	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.34	0.67151	M	0.9	0.45248	T	-3.13	0.63901	D	0.18	0.19459	-0.8106	0.54514	T	0.161	0.49581	T	7	0.0037321448	0.00069	T	.	.	.	0.174	0.44019	.	.	.	.	0.271241138993447	0.27037	.	.	0.613954544067	0.54874	T	0.056259	0.30239	T	-0.522274	0.00427	T	-0.484257	0.23994	T	0.0399341496308989	0.03678	T	0.582242	0.21111	T	0.08627552	0.20047	0.11204465	0.27031	0.08627552	0.20047	0.11204465	0.27030	-4.944	0.36226	T	.	.	0.104	0.19032	B	.	.	4.085529	0.60807	24.3	0.9956597254583005	0.72075	0.82169	0.41438	D	AEFBI	0.319662	0.42300	N	-0.0173769985703705	0.41070	2.45002	0.0325634016637101	0.41236	2.474089	0.997430786393656	0.35614	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.26	4.37	0.51830	2.804000	0.47628	0.270000	0.16646	-0.171000	0.11205	0.982000	0.35529	0.010000	0.20010	0.970000	0.54328	0.0:0.9145:0.0:0.0855	11.371	0.48940	526	0.73951	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008565	0.000000	0.009091	0.000000	0.000000	0.000000	0.000000	0.028302	0.05	1615.43	33	chr14	23531576	.	C	T	1615.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.023;DP=430;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-1.505;SOR=0.59	GT:AD:DP:GQ:PL	0/1:53,68:121:99:1627,0,1135	9	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	404.66	126	chr14	24300437	.	G	C	404.66	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.58;DP=1123;ExcessHet=2.8389;FS=300.645;InbreedingCoeff=-0.4294;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.59;SOR=10.2	GT:AD:DP:GQ:PL	0/1:91,32:123:81:81,0,2282	3	0	5	2
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	.	.	.	.	.	.	.	.	0.35	805.9	81	chr14	58213644	.	T	C	805.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.332;DP=628;ExcessHet=7.0302;FS=229.252;InbreedingCoeff=-0.531;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.73;SOR=10.236	GT:AD:DP:GQ:PL	0/1:48,13:61:11:11,0,975	3	0	7	0
chr14	60057944	60057944	G	A	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon31:c.G4198A:p.E1400K	.	436	1074	12	0	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014377	0.0110	0	0	0.0455	0	0.0003	0.0227	0.0160	0.0017529	271	154602	rs77893491	0.0085	0.0074	0.0085	0.0085	0.0976	0.0083	0.0082	0.0948	0.0936	0.0008	0.0083	0.0004	0.0976	0.0037	0.0005	0.0004	0.0037	0.0129	0.0034	0.0034	0.0027	0.0041	0.0575	0.0031	0.0030	0.0521	0.0500	0.0006	0	0.0036	0	0.0575	0.0034	0	0.0005	0.0024	0.0129	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.997905	0.22451	N	.	.	.	2.45	0.15028	T	1.35	0.00889	N	0.14	0.13911	.	.	.	.	.	.	.	0.0020187497	0.00028	T	.	.	.	.	.	.	.	0.289098819767	0.28531	0.1826041786331218	0.18179	.	.	.	.	.	2.1E-4	0.00041	T	-0.633308	0.00091	T	-0.564348	0.15971	T	.	.	.	0.421058	0.11199	T	0.056483187	0.11119	0.12870216	0.30958	0.056483187	0.11118	0.12870216	0.30958	-3.305	0.13802	T	.	.	0.053	0.00949	B	.;.	.;.	1.793790	0.22800	15.77	0.55479994864291016	0.05351	0.01736	0.05483	N	AEFBI	0.035855	0.04683	N	.	.	.	.	.	.	0.696558387084972	0.22648	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.54	5.54	0.82907	2.351000	0.43727	8.050000	0.76353	-0.040000	0.17491	0.994000	0.38300	1.000000	0.68203	0.939000	0.47918	0.9133:0.0:0.0867:0.0	8.661	0.33255	558	0.71484	.;.	.	.	.	.	.	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	1857.43	33	chr14	60057944	.	G	A	1857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=499;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.424;SOR=0.695	GT:AD:DP:GQ:PL	0/1:96,83:179:99:1869,0,2062	9	0	1	0
chr14	60115188	60115188	A	G	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon3:c.A382G:p.I128V,PCNX4:NM_001330177:exon4:c.A1084G:p.I362V	.	435	1076	11	0	0	11	0.00508553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0013	0.014377	0.0085	0.0011	0.0100	0.0558	0.0062	0.0019	0.0122	0.0143	0.0076066	1176	154602	rs75475362	0.0051	0.0051	0.0049	0.0053	0.0901	0.0050	0.0050	0.0877	0.0866	0.0007	0.0093	0.0007	0.0901	0.0059	0.0009	0.0016	0.0042	0.0132	0.0041	0.0042	0.0035	0.0048	0.0558	0.0039	0.0037	0.0505	0.0485	0.0008	0	0.0040	0	0.0558	0.0049	0	0.0018	0.0028	0.0128	0.93	0.02274	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.56	0.02328	N	2.06	0.20664	T	0.15	0.05604	N	0.014	0.00203	-0.9199	0.45567	T	0.001	0.00438	T	9	0.0015312731	0.00017	T	.	.	.	0.029	0.06676	.	.	0.0297737177859	0.01360	0.2653109046514781	0.26444	0.0120746900002	0.01145	0.283814579248	0.08030	T	0.002794	0.07514	T	-0.812043	0.00006	T	-0.821089	0.01430	T	0.000685660318959884	0.00006	T	0.574643	0.20620	T	0.01962794	0.00498	0.037314124	0.03358	0.01962794	0.00497	0.037314124	0.03358	-3.18	0.12238	T	.	.	0.068	0.04041	B	.;.;.	.;.;.	-1.180463	0.00551	0.013	0.66006540860983143	0.07934	0.04078	0.09534	N	AEDGBIJ	0.055351	0.10143	N	-1.32158699794247	0.03429	0.1531529	-1.26532783300188	0.04908	0.2326312	0.998885172680653	0.37891	0.706298	0.61202	0	0.709663	0.81188	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.4	-4.23	0.03530	-0.015000	0.12572	-1.110000	0.06300	-0.054000	0.16847	0.006000	0.17386	0.000000	0.08366	0.942000	0.48361	0.3808:0.0:0.5165:0.1028	9.060	0.35589	602	0.67834	.;.;.	.	.	.	.	rs75475362	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2095.43	127	chr14	60115188	.	A	G	2095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.492;DP=1257;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.517;SOR=0.71	GT:AD:DP:GQ:PL	0/1:61,86:147:99:2107,0,1356	9	0	1	0
chr14	63376108	63376108	A	C	exonic	PPP2R5E	.	nonsynonymous SNV	PPP2R5E:NM_001282180:exon14:c.T1290G:p.N430K	.	.	.	.	.	.	.	.	0.0003	0.106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300821722	7.71e-06	7.534e-06	5.595e-06	9.836e-06	1.018e-05	4.14e-06	3.02e-06	5.46e-06	3.99e-06	0	0	0	0	0	0	1.018e-05	0	0	1.973e-05	1.971e-05	3.857e-05	0	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	4.17	0.00048	N	0.216	0.24135	-0.9357	0.43288	T	0.164	0.50061	T	6	0.13407686	0.25517	T	.	.	.	0.100	0.28662	0.396	0.42262	0.617410597213	0.61431	.	.	.	.	.	.	.	.	.	.	0.122412	0.66614	D	-0.0619407	0.66197	T	0.21165043965905	0.21039	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	0.902	0.00145	T	.	.	0.014	0.00000	B	.	.	1.370263	0.17801	13.38	0.85832167068922083	0.16140	0.90547	0.51813	D	AEFGBCI	0.181926	0.30924	N	0.446941669075982	0.64031	4.648598	0.4817881934047	0.66785	4.997345	0.999997999943316	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.86	5.86	0.93936	2.607000	0.45964	6.156000	0.54269	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.265	0.82400	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1281.43	33	chr14	63376108	.	A	C	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.576;DP=436;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.64;SOR=0.874	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1293,0,1536	9	0	1	0
chr14	64137860	64137860	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon79:c.C14720T:p.A4907V,SYNE2:NM_182914:exon79:c.C14720T:p.A4907V	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	693550	not_provided|SYNE2-related_disorder|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:C3661900|.|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.055	.	0.0002	0.00159744	0.0014	0.0005	0	0	0	2.999e-05	0.0011	0.0101	0.0012225	189	154602	rs144804554	0.0006	0.0006	0.0004	0.0009	0.0093	0.0006	0.0006	0.0088	0.0086	0.0006	0	0	2.519e-05	0	0	2.788e-05	0.0011	0.0093	0.0005	0.0005	0.0004	0.0006	0.0102	0.0004	0.0004	0.0079	0.0071	0.0006	0	6.539e-05	0	0	0	0	2.941e-05	0	0.0102	1.0	0.00964	T	0.048	0.49663	D	0.856	0.47190	P	0.127	0.32738	B	0.125788	0.18829	N	0.483471	0.999999	0.08975	N	0.895	0.22405	L	1.22	0.37052	T	-0.06	0.13035	N	0.094	0.30004	-1.0286	0.20908	T	0.036	0.15509	T	10	0.0034236908	0.00060	T	.	.	.	0.055	0.15663	.	.	0.137902524267	0.13322	0.05526171534263725	0.05467	0.0641671325935	0.07151	0.285294800997	0.08241	T	0.013144	0.25226	T	-0.58395	0.00182	T	-0.603618	0.12508	T	0.0104608866911503	0.00144	T	0.650635	0.27986	T	0.0282787	0.02142	0.029264903	0.01245	0.028304959	0.02146	0.028704945	0.01132	-3.109	0.11399	T	.	.	0.089	0.11989	B	.;.;.;.;.	.;.;.;.;.	2.327579	0.29814	18.24	0.96379556773942376	0.29614	0.06438	0.12444	N	AEFDGBHCI	0.057275	0.10656	N	-0.620216225792897	0.18337	0.9512335	-0.599182336211541	0.19513	1.047317	0.935394244120833	0.27211	0.743674	0.98306	0	0.635938	0.57008	0	0.630245	0.45026	0	0.572988	0.34948	1	.	.	5.87	1.94	0.25058	1.312000	0.33179	-0.205000	0.10907	0.599000	0.40250	0.056000	0.21631	0.000000	0.08366	0.991000	0.66497	0.1161:0.5334:0.2247:0.1258	4.580	0.11651	551	0.72115	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	1037.43	35	chr14	64137860	.	C	T	1037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.117;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.4;SOR=0.734	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1049,0,840	9	0	1	0
chr14	64220587	64220587	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon4:c.G535A:p.A179T,SYNE2:NM_182913:exon6:c.G913A:p.A305T,SYNE2:NM_015180:exon110:c.G19942A:p.A6648T,SYNE2:NM_182914:exon111:c.G20011A:p.A6671T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	191116	not_specified|not_provided|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.008	0.0225443978429	0.0041	0.00139776	0.0035	0.0004	0.0007	0	0.0068	0.0052	0.0033	0.0008	0.0033635	520	154602	rs34820571	0.0042	0.0042	0.0043	0.0042	0.0057	0.0042	0.0041	0.0045	0.0045	0.0010	0.0011	0.0081	2.519e-05	0.0079	0.0057	0.0047	0.0034	0.0009	0.0033	0.0033	0.0032	0.0033	0.0048	0.0030	0.0029	0.0044	0.0042	0.0009	0.0110	0.0014	0.0075	0	0.0062	0	0.0048	0.0024	0.0004	0.37	0.16358	T	0.448	0.19188	T	0.382	0.39680	B	0.079	0.34953	B	0.062490	0.22094	N	0.373876	0.999999	0.08975	N	2.535	0.73915	M	0.65	0.52642	T	-1.18	0.38540	N	0.164	0.19325	-1.0528	0.13628	T	0.071	0.28806	T	10	0.004609406	0.00096	T	0.022544	0.45449	T	0.008	0.00669	.	.	0.279370189704	0.27548	0.07834378687969099	0.07770	0.0497957064675	0.05466	0.272646069527	0.06488	T	0.033927	0.28460	T	-0.537098	0.00348	T	-0.541252	0.18174	T	0.00815764141995347	0.00097	T	0.579642	0.22516	T	0.051314246	0.09403	0.04531847	0.06070	0.04942148	0.08772	0.04327118	0.05345	-5.441	0.41999	T	.	.	0.081	0.08754	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.438972	0.08091	4.818	0.68426260629147562	0.08655	0.11708	0.16810	N	ALL	0.094411	0.19089	N	-0.81693554088599	0.12878	0.630608	-0.892363653910298	0.12274	0.6304249	0.99999994589961	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	0.56	0.16465	-0.217000	0.09258	0.021000	0.13590	-0.735000	0.03699	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2561:0.0:0.5889:0.155	7.366	0.25948	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	rs34820571	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.010101	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	653.43	34	chr14	64220587	.	G	A	653.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.553;DP=395;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=-0.561;SOR=0.866	GT:AD:DP:GQ:PL	0/1:49,32:81:99:665,0,1154	9	0	1	0
chr14	64221672	64221672	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon5:c.C724T:p.R242W,SYNE2:NM_182913:exon7:c.C1102T:p.R368W,SYNE2:NM_015180:exon111:c.C20089T:p.R6697W,SYNE2:NM_182914:exon112:c.C20158T:p.R6720W	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	191117	not_specified|not_provided|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.091	0.015996848739	0.0039	0.00119808	0.0034	0.0005	0.0006	0	0.0085	0.0048	0.0033	0.0010	0.0006015	93	154602	rs35700578	0.0042	0.0042	0.0042	0.0041	0.0045	0.0041	0.0040	0.0044	0.0044	0.0014	0.0009	0.0070	2.519e-05	0.0087	0.0040	0.0045	0.0035	0.0009	0.0031	0.0031	0.0030	0.0032	0.0045	0.0029	0.0028	0.0041	0.0039	0.0009	0.0110	0.0014	0.0063	0	0.0075	0	0.0045	0.0009	0.0004	0.001	0.78490	D	0.003	0.76473	D	0.899	0.52277	P	0.526	0.60522	P	0.018202	0.27535	N	0.255751	1	0.81001	D	0	0.06538	N	1.31	0.35405	T	-3.01	0.66436	D	0.339	0.41063	-0.9855	0.33711	T	0.066	0.27156	T	10	0.0045284927	0.00093	T	0.015997	0.37036	T	0.091	0.26358	.	.	0.42538462244	0.42159	0.09189272209917497	0.09122	0.204032014099	0.22819	0.220042616129	0.01312	T	0.07209	0.58432	T	-0.502254	0.00555	T	-0.491479	0.23236	T	0.036418434550219	0.03054	T	0.673733	0.38939	T	0.07776571	0.17670	0.096428074	0.22912	0.1014082	0.23954	0.10737343	0.25848	-7.874	0.60208	D	.	.	0.098	0.18164	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.933926	0.38987	20.9	0.74394793448331165	0.10679	0.85618	0.44770	D	AEFDGBIJ	0.609492	0.59867	D	-0.273074849157489	0.30192	1.681182	-0.26792372481127	0.29162	1.631611	0.999805911595196	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	5.18	0.71140	1.191000	0.31747	1.823000	0.29055	0.599000	0.40250	0.707000	0.28693	0.140000	0.23083	0.005000	0.06747	0.255:0.6219:0.123:0.0	11.257	0.48292	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	rs35700578	Likely benign	0	0	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	0.010101	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	1032.43	39	chr14	64221672	.	C	T	1032.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.8;DP=437;ExcessHet=0;FS=2.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.546;SOR=1.051	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1044,0,1286	9	0	1	0
chr14	64468430	64468430	C	G	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.C36G:p.N12K	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0100165655719	0.0008	0.000599042	0.0010	0.0003	0.0003	0	0	0.0010	0.0023	0.0033	0.0009961	154	154602	rs61755983	0.0009	0.0009	0.0007	0.0010	0.0047	0.0008	0.0008	0.0041	0.0040	0.0003	0.0003	3.883e-05	0	0	0.0047	0.0007	0.0009	0.0045	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0002	0	0.0003	0	0	0	0.0034	0.0009	0.0005	0.0027	0.029	0.45756	D	0.148	0.32675	T	0.501	0.37169	P	0.086	0.29521	B	0.004005	0.34221	N	0.252498	1	0.81001	D	1.67	0.42885	L	1.8	0.25344	T	-3.32	0.66085	D	0.14	0.13911	-1.0433	0.16324	T	0.028	0.12058	T	10	0.008371741	0.00190	T	0.010017	0.26057	T	0.041	0.10877	0.253	0.19223	0.599568711273	0.59638	0.15461105324369417	0.15382	0.254738684408	0.28049	0.371361285448	0.21027	T	0.735101	0.92617	D	-0.579912	0.00193	T	-0.606936	0.12236	T	0.0462862226696592	0.04835	T	0.562644	0.19782	T	0.16680238	0.37038	0.22020969	0.46788	0.16680238	0.37038	0.22020969	0.46787	-3.12	0.11527	T	.	.	0.308	0.54235	B	.;.	.;.	2.003840	0.25460	16.77	0.98676538682533266	0.44554	0.84406	0.43488	D	AEFGBI	0.216599	0.34182	N	-0.250678006836125	0.31077	1.738987	-0.147237804714883	0.33514	1.917915	0.999966973416111	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	2.43	0.28797	0.270000	0.18372	-0.154000	0.11389	-0.176000	0.10722	0.963000	0.33788	0.109000	0.22772	0.956000	0.50813	0.0:0.6514:0.1488:0.1998	5.809	0.17720	399	0.82780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.003049	0.022727	0.05	388.43	41	chr14	64468430	.	C	G	388.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.19;ReadPosRankSum=0.064;SOR=0.551	GT:AD:DP:GQ:PL	0/1:36,18:54:99:400,0,873	9	0	1	0
chr14	64738747	64738747	G	C	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1410C:p.K470N	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.00519169	0.0177	0.0023	0.0648	0.0027	0.0589	0.0184	0.0041	0.0156	0.0066429	1027	154602	rs72724477	0.0080	0.0081	0.0078	0.0082	0.0159	0.0079	0.0078	0.0148	0.0144	0.0012	0.0159	0.0040	0.0008	0.0119	0.0023	0.0078	0.0070	0.0130	0.0064	0.0064	0.0061	0.0066	0.0124	0.0060	0.0059	0.0099	0.0090	0.0018	0.0055	0.0105	0.0049	0.0010	0.0102	0	0.0079	0.0038	0.0124	0.0	0.91255	D	0.426	0.92824	T	0.999	0.77913	D	0.929	0.71005	D	0.377271	0.13440	N	0.699647	0.996422	0.81001	D	2.665	0.77964	M	1.24	0.36691	T	-2.84	0.59873	D	0.39	0.56403	-0.9027	0.47705	T	0.109	0.39509	T	10	0.0069660246	0.00158	T	.	.	.	0.156	0.40720	0.247	0.18293	0.491729458163	0.48807	0.2769457900198724	0.27607	0.65192617917	0.58404	0.628261268139	0.56898	T	0.030109	0.21421	T	-0.450265	0.01125	T	-0.405925	0.32697	T	0.026208640920483	0.01435	T	0.749925	0.37732	T	0.12395166	0.29094	0.1000488	0.23908	0.12395166	0.29094	0.1000488	0.23908	-5.124	0.39576	T	.	.	0.282	0.64658	B	.;.;.;.	.;.;.;.	3.435602	0.47770	22.5	0.99826171060265678	0.90852	0.66194	0.32994	D	AEFDBCI	0.136211	0.25681	N	0.286979450758873	0.55488	3.712822	0.217238421954152	0.50803	3.268629	0.749180870419722	0.23332	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	0.882	0.18306	2.368000	0.43875	2.153000	0.30925	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.3466:0.0:0.4994:0.154	4.446	0.11019	404	0.82510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005612	0.005319	0.000000	0.014793	0.000000	0.000000	0.006289	0.007634	0.05	1067.43	33	chr14	64738747	.	G	C	1067.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.449;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=1.66;SOR=0.631	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1079,0,963	9	0	1	0
chr14	73491733	73491733	A	G	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.A716G:p.Q239R	.	428	1042	50	2	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00179712	0.0057	0.0010	0.0094	0	0	0.0111	0.0068	0.0026	0.0023868	369	154602	rs45506292	0.0045	0.0044	0.0043	0.0046	0.0374	0.0044	0.0043	0.0333	0.0317	0.0016	0.0028	0.0035	5.558e-05	0.0003	0.0374	0.0049	0.0054	0.0021	0.0036	0.0036	0.0038	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0.0011	0.0031	0.0026	0	0.0004	0.0476	0.0058	0.0095	0.0025	.	.	.	0.518	0.10536	T	0.004	0.12183	B	0.021	0.19346	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.057	0.02861	.	.	.	.	.	.	.	0.004604161	0.00096	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5207341239320942	0.51996	.	.	.	.	.	0.006441	0.05872	T	-0.446726	0.01180	T	-0.410463	0.32173	T	.	.	.	0.664234	0.27311	T	0.2471527	0.47690	0.4145235	0.65593	0.2471527	0.47690	0.4145235	0.65593	-3.701	0.19333	T	.	.	0.064	0.01622	B	.	.	1.958293	0.24878	16.56	0.87932557959955016	0.17590	0.83000	0.42157	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999995253	0.74766	0.075627	0.01787	0	0.149826	0.03527	2	0.012449	0.00143	3	0.143876	0.04018	0	0.817998	0.48765	5.09	3.91	0.44383	1.642000	0.36823	1.028000	0.23458	0.658000	0.54486	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.7077:0.1503:0.1419:0.0	5.832	0.17840	306	0.87689	JmjC 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	0.031218	0.010753	0.037190	0.040936	0.100000	0.026316	0.024691	0.022901	0.05	1232.43	85	chr14	73491733	.	A	G	1232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.598;DP=790;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.335;SOR=0.534	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1244,0,1335	9	0	1	0
chr14	74356998	74356998	G	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.G215A:p.R72Q	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00777356287819	0.0015	0.00139776	0.0022	0.0004	0.0029	0	0.0015	0.0022	0.0022	0.0043	0.0021216	328	154602	rs45593432	0.0024	0.0024	0.0023	0.0024	0.0110	0.0023	0.0023	0.0088	0.0080	0.0004	0.0023	0.0017	0	0.0011	0.0110	0.0025	0.0022	0.0037	0.0020	0.0020	0.0018	0.0022	0.0037	0.0018	0.0018	0.0024	0.0023	0.0006	0	0.0031	0.0026	0	0.0010	0.0034	0.0027	0.0038	0.0037	0.139	0.25768	T	0.171	0.30339	T	0.033	0.20350	B	0.003	0.08700	B	0.222855	0.16098	N	0.565703	1	0.08975	N	0.345	0.11182	N	0.93	0.44065	T	-1.66	0.39692	N	0.081	0.05670	-1.0490	0.14677	T	0.042	0.17910	T	10	0.006282538	0.00142	T	0.007774	0.20616	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.4145049700076509	0.41366	0.508805914632	0.49028	0.281761646271	0.07739	T	0.030668	0.21687	T	-0.558419	0.00259	T	-0.57464	0.15027	T	0.00794116350985431	0.00094	T	0.778122	0.45098	T	0.07385919	0.16535	0.04743518	0.06833	0.07385919	0.16535	0.04743518	0.06833	-4.319	0.28442	T	.	.	0.068	0.02639	B	.;.	.;.	1.297111	0.16988	12.89	0.99395072349976021	0.62519	0.17632	0.19921	N	AEFDBCI	0.119875	0.23378	N	-0.649216657548677	0.17483	0.9000355	-0.551358041754906	0.20770	1.120566	0.974554831129864	0.29553	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.91	1.82	0.24209	0.452000	0.21508	0.449000	0.18503	0.676000	0.76740	0.115000	0.23085	0.005000	0.19230	0.511000	0.29267	0.2597:0.0:0.7403:0.0	9.583	0.38662	269	0.89438	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.004076	0.005848	0.000000	0.000000	0.006098	0.007576	0.05	1119.43	37	chr14	74356998	.	G	A	1119.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.99;DP=427;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.228;SOR=0.812	GT:AD:DP:GQ:PL	0/1:72,44:116:99:1131,0,1748	9	0	1	0
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	1/1:0,25:25:75:1077,75,0	0	2	7	1
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	.	.	.	.	.	.	.	.	0.35	983.97	138	chr14	78297852	.	G	A	983.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.136;DP=1458;ExcessHet=7.0302;FS=257.196;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.164;SOR=12.28	GT:AD:DP:GQ:PL	0/1:106,41:154:39:39,0,1818	3	0	7	0
chr14	94290332	94290332	G	A	exonic	SERPINA10	.	stopgain	SERPINA10:NM_001100607:exon2:c.C262T:p.R88X,SERPINA10:NM_016186:exon2:c.C262T:p.R88X	.	406	1043	67	6	0	79	0.0364896	.	.	.	967233	not_provided|LAMB2-related_infantile-onset_nephrotic_syndrome	MedGen:C3661900|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00539137	0.0075	0.0024	0.0081	0.0002	0.0015	0.0075	0.0088	0.0162	0.0002689	7	26028	rs2232698	0.0066	0.0066	0.0061	0.0070	0.0695	0.0065	0.0064	0.0639	0.0617	0.0027	0.0069	0.0196	0.0002	0.0015	0.0695	0.0056	0.0090	0.0160	0.0053	0.0053	0.0051	0.0055	0.0139	0.0050	0.0049	0.0112	0.0102	0.0016	0	0.0076	0.0202	0.0002	0.0011	0.0748	0.0063	0.0104	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.000033	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.86085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.	.;High;.;.	7.984329	0.97058	36	0.99821763425602916	0.90414	0.76946	0.37781	D	AEFBCI	0.382980	0.46466	N	0.319043072116327	0.57125	3.878893	0.0876574291364291	0.43925	2.684392	0.999858293275741	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	4.87	3.04	0.34171	1.993000	0.40367	0.274000	0.16691	0.373000	0.20310	0.981000	0.35396	0.000000	0.08366	0.730000	0.35099	0.1556:0.0:0.5649:0.2795	5.893	0.18165	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.056898	0.040404	0.059783	0.108187	0.000000	0.077586	0.039634	0.026515	0.05	1884.43	34	chr14	94290332	.	G	A	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=517;ExcessHet=0;FS=1.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.78;SOR=0.688	GT:AD:DP:GQ:PL	0/1:61,77:138:99:1896,0,1304	9	0	1	0
chr14	94464835	94464835	G	C	exonic	SERPINA9	.	nonsynonymous SNV	SERPINA9:NM_001284275:exon4:c.C682G:p.P228A,SERPINA9:NM_175739:exon4:c.C922G:p.P308A,SERPINA9:NM_001042518:exon5:c.C622G:p.P208A,SERPINA9:NM_001284276:exon5:c.C529G:p.P177A	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.182556330366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.158e-06	6.156e-06	5.446e-06	6.877e-06	0.0009	2.9e-06	2.1e-06	0.0003	0.0002	0	0	0	0	0	0.0009	0	6.624e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000009	0.62929	D	0.000000	0.996278	0.43112	D	4.395	0.98631	H	-5.12	0.98731	D	-7.79	0.95950	D	0.732	0.74462	1.013	0.97403	D	0.983	0.99472	D	10	0.95256066	0.94598	D	0.182556	0.85628	D	0.826	0.94466	0.832	0.94105	0.978538963705	0.97830	0.37770411131204273	0.37685	0.123572349966	0.13909	0.411369025707	0.26647	T	0.491326	0.81574	T	0.344229	0.86118	D	0.256685	0.85936	D	0.999726235866547	0.98678	D	0.871313	0.58632	D	0.9715206	0.98401	0.91352105	0.95939	0.9715206	0.98401	0.91352105	0.95939	-12.966	0.90537	D	.	.	0.756	0.80455	P	.;.;.;.;.;.	.;.;.;.;.;.	4.752547	0.76759	26.6	0.99161932721756263	0.54127	0.96607	0.69990	D	AEFDBI	0.503043	0.53520	D	0.816843468048063	0.87149	9.118879	0.641081097061731	0.77949	6.778704	0.999998792274488	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.83	3.83	0.43287	7.963000	0.87472	10.975000	0.84560	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.474000	0.28430	0.0:0.0:1.0:0.0	15.907	0.79224	856	0.34373	.;.;.;.;Serpin domain|Serpin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	738.43	38	chr14	94464835	.	G	C	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.106;DP=433;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.588;SOR=0.543	GT:AD:DP:GQ:PL	0/1:28,35:63:99:750,0,686	9	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	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,35:102:99:.:.:286,0,1188:.	0	0	10	0
chr14	100292522	100292522	C	G	exonic	SLC25A29	.	nonsynonymous SNV	SLC25A29:NM_152333:exon3:c.G475C:p.A159P,SLC25A29:NM_001039355:exon4:c.G673C:p.A225P,SLC25A29:NM_001291813:exon5:c.G475C:p.A159P,SLC25A29:NM_001291814:exon5:c.G475C:p.A159P,SLC25A29:NM_001352821:exon5:c.G832C:p.A278P,SLC25A29:NM_001352822:exon5:c.G475C:p.A159P,SLC25A29:NM_001352823:exon6:c.G475C:p.A159P,SLC25A29:NM_001352820:exon7:c.G475C:p.A159P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0473912901086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1462660253	1.39e-06	1.368e-06	2.761e-06	0	2.422e-05	2.3e-07	9e-08	.	.	0	2.422e-05	0	0	0	0	9.071e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.272	0.22223	T	0.006	0.13644	B	0.007	0.12992	B	0.001680	0.38326	N	0.254984	0.999631	0.47961	D	-0.1	0.04694	N	-1.23	0.78860	T	-0.86	0.23372	N	0.1	0.14054	-0.9752	0.36082	T	0.146	0.46950	T	10	0.06457734	0.08585	T	0.047391	0.62902	D	0.172	0.43662	0.598	0.72862	0.213573922156	0.20996	0.8496762416026642	0.84929	0.375175560987	0.38974	0.309043616056	0.11763	T	0.130788	0.45989	T	-0.189345	0.22355	T	-0.406814	0.32592	T	0.0569382086396217	0.06679	T	0.580242	0.20999	T	0.12809126	0.29957	0.11344625	0.27379	0.12809126	0.29956	0.11344625	0.27378	-5.152	0.38450	T	.	.	0.067	0.02639	B	.;.;.;.	.;.;.;.	1.195159	0.15865	12.16	0.85315588186158609	0.15817	0.27410	0.23269	N	AEFDBI	0.423593	0.48911	N	-1.26253036951757	0.04137	0.1861283	-1.2104844403151	0.05741	0.2743835	0.998820491647473	0.37755	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.62	0.514	0.16206	0.205000	0.17154	-0.511000	0.08745	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.6115:0.1178:0.2707	6.640	0.22096	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	.	.	.	.	.	.	.	.	0.125	52.64	40	chr14	100292522	.	C	G	52.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.794;DP=626;ExcessHet=0;FS=116.133;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.91;SOR=5.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,18:87:59:0|1:100292517_C_G:59,0,1845:100292517	3	0	1	6
chr14	100881449	100881449	G	A	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.C3340T:p.R1114W	.	422	1089	11	0	0	11	0.00502513	.	.	.	713999	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0136121142724	.	0.00299521	0.0037	0	0	0	0.0087	0.0061	0.0088	0.0015	0.0011125	172	154602	rs143429892	0.0077	0.0073	0.0078	0.0075	0.0089	0.0075	0.0075	0.0087	0.0087	0.0014	0.0035	0.0023	0	0.0079	0.0056	0.0089	0.0061	0.0018	0.0051	0.0051	0.0053	0.0048	0.0072	0.0048	0.0047	0.0067	0.0065	0.0016	0	0.0061	0.0020	0	0.0090	0.0170	0.0072	0.0052	0.0010	0.01	0.56456	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.9	0.23486	T	-1.11	0.28703	N	0.147	0.14905	-1.0577	0.12337	T	0.019	0.08033	T	9	0.0048611164	0.00104	T	0.013612	0.33144	T	0.051	0.14325	.	.	0.134241683229	0.13084	0.5111866106545447	0.51040	0.621706145439	0.56448	0.39105463028	0.23818	T	0.108363	0.42134	T	-0.6636	0.00060	T	-0.719453	0.04823	T	0.0287298516904001	0.01797	T	0.383462	0.09368	T	0.04444258	0.07103	0.04908906	0.07429	0.04444258	0.07103	0.04908906	0.07428	-5.207	0.39013	T	.	.	0.109	0.21653	B	.;.	.;.	2.128410	0.27094	17.35	0.99193184675214408	0.55053	0.02484	0.06956	N	AEFDBI	.	.	.	-0.917718137765063	0.10427	0.4982521	-0.973891674211327	0.10373	0.5220721	0.0304187188426178	0.13942	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.11	-0.166	0.12697	-0.623000	0.05643	-0.103000	0.11918	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.147000	0.20199	0.0:0.6391:0.3609:0.0	11.396	0.49079	842	0.36989	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002174	0.000000	0.005814	0.004425	0.000000	0.000000	0.005435	0.000000	0.05	1531.43	37	chr14	100881449	.	G	A	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=500;ExcessHet=0;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=1.07;SOR=0.549	GT:AD:DP:GQ:PL	0/1:36,63:99:99:1543,0,787	9	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	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	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.1	6144.14	85	chr14	104953797	.	C	T	6144.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.446;DP=1204;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.143;SOR=0.685	GT:AD:DP:GQ:PL	0/1:113,115:228:99:2962,0,2898	8	0	2	0
chr14	105493850	105493850	C	T	exonic	TEDC1	.	nonsynonymous SNV	TEDC1:NM_001134875:exon5:c.C601T:p.R201C,TEDC1:NM_001367178:exon5:c.C601T:p.R201C	.	428	1052	41	1	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0023	0.0081869	0.0063	0.0020	0.0033	0.0001	0.0016	0.0046	0.0104	0.0229	0.0054721	846	154602	rs118022421	0.0043	0.0043	0.0038	0.0049	0.0217	0.0042	0.0042	0.0208	0.0205	0.0020	0.0033	0.0048	0.0001	0.0014	0.0198	0.0032	0.0061	0.0217	0.0035	0.0035	0.0033	0.0037	0.0183	0.0033	0.0032	0.0152	0.0141	0.0017	0	0.0047	0.0066	0.0002	0.0017	0.0171	0.0036	0.0057	0.0183	0.059	0.45039	T	0.004	0.83351	D	0.999	0.77913	D	0.764	0.56591	P	0.064810	0.02182	N	2.001050	1	0.08975	N	.	.	.	.	.	.	-3.3	0.77143	D	0.165	0.29429	-1.0384	0.17802	T	0.081	0.31913	T	9	0.005352378	0.00117	T	.	.	.	0.072	0.21020	.	.	0.254761474806	0.25079	0.10644456044551831	0.10574	0.0186173050877	0.01812	.	.	.	0.057185	0.30495	T	-0.398785	0.02358	T	-0.329347	0.41542	T	0.022512283648584	0.00967	T	0.915408	0.70532	D	0.13811046	0.31954	0.08930856	0.20877	0.13811046	0.31954	0.08930856	0.20876	-5.798	0.44557	T	.	.	0.132	0.42806	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.156229	0.27469	17.47	0.99686127378478306	0.79574	0.04473	0.10084	N	AEFBCI	0.102646	0.20585	N	-0.45759505220874	0.23484	1.261407	-0.687308798504235	0.17277	0.9179845	0.99958066070294	0.40607	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.37	0.148	0.14137	-0.558000	0.06069	0.043000	0.13895	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2255:0.5452:0.0:0.2293	2.895	0.05340	940	0.13648	Domain of unknown function DUF4509;Domain of unknown function DUF4509;Domain of unknown function DUF4509;.;Domain of unknown function DUF4509;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023209	0.010309	0.017711	0.029240	0.050000	0.025862	0.024390	0.022727	0.05	1432.43	33	chr14	105493850	.	C	T	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.624;DP=505;ExcessHet=0;FS=3.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.5;ReadPosRankSum=1.3;SOR=0.484	GT:AD:DP:GQ:PL	0/1:119,72:191:99:1444,0,2597	9	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	330.53	38	chr15	20534613	.	C	*	330.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.318;DP=776;ExcessHet=7.0302;FS=3.819;InbreedingCoeff=-0.538;MLEAC=4;MLEAF=0.2;MQ=53.59;MQRankSum=0.13;QD=0.56;ReadPosRankSum=1.28;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,44:186:99:.:.:1220,0,4796:.	6	0	4	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	492.44	26	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	492.44	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.2;DP=732;ExcessHet=4.5998;FS=5.412;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=2.32;QD=1.26;ReadPosRankSum=0.05;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,44:138:99:.:.:1295,0,3998:.	6	0	4	0
chr15	20534636	20534636	C	0	exonic	GOLGA6L6	.	.	.	.	491	642	369	8	12	397	0.230677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	140.44	26	chr15	20534636	.	C	*	140.44	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.554;DP=697;ExcessHet=7.0302;FS=2.644;InbreedingCoeff=-0.5385;MLEAC=6;MLEAF=0.3;MQ=52.8;MQRankSum=1.45;QD=0.34;ReadPosRankSum=-2.568;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,79:123:99:0|1:20534636_C_*:3020,0,1553:20534636	4	0	6	0
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	439.07	23	chr15	20534647	.	C	*	439.07	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.7;DP=659;ExcessHet=2.8389;FS=2.002;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=54.15;MQRankSum=-0.327;QD=1.44;ReadPosRankSum=-1.348;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,79:123:99:0|1:20534635_TCC_*:2764,0,1797:20534635	6	0	4	0
chr15	20534648	20534648	G	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	46.66	22	chr15	20534648	.	G	*	46.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.85;DP=628;ExcessHet=2.8389;FS=1.057;InbreedingCoeff=-0.3798;MLEAC=4;MLEAF=0.222;MQ=52.47;MQRankSum=-0.616;QD=0.15;ReadPosRankSum=-1.461;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,35:123:99:0|1:20534636_C_*:1128,0,3417:20534636	5	0	4	1
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	325.26	19	chr15	20534663	.	G	*	325.26	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.61;DP=602;ExcessHet=2.8389;FS=4.134;InbreedingCoeff=-0.355;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=1.19;QD=1.05;ReadPosRankSum=-3.135;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,41:143:99:.:.:991,0,4121:.	6	0	4	0
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	294.26	18	chr15	20534667	.	C	*	294.26	.	AC=4;AF=0.2;AN=20;BaseQRankSum=3.06;DP=595;ExcessHet=2.8389;FS=4.186;InbreedingCoeff=-0.355;MLEAC=4;MLEAF=0.2;MQ=51.27;MQRankSum=0.972;QD=0.95;ReadPosRankSum=-3.043;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,41:143:99:.:.:991,0,4121:.	6	0	4	0
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	260.88	18	chr15	20534668	.	CTT	*	260.88	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.11;DP=585;ExcessHet=2.8389;FS=3.461;InbreedingCoeff=-0.4026;MLEAC=4;MLEAF=0.222;MQ=51.13;MQRankSum=0.72;QD=0.84;ReadPosRankSum=-2.27;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,41:143:99:.:.:991,0,4121:.	5	0	4	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	160.14	18	chr15	20534672	.	T	*	160.14	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.99;DP=547;ExcessHet=2.8389;FS=2.258;InbreedingCoeff=-0.341;MLEAC=4;MLEAF=0.2;MQ=48.12;MQRankSum=-0.202;QD=0.53;ReadPosRankSum=-2.418;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,36:143:99:.:.:1008,0,3935:.	6	0	4	0
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	122.3	13	chr15	20534676	.	C	*	122.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.18;DP=520;ExcessHet=2.8389;FS=2.964;InbreedingCoeff=-0.4288;MLEAC=5;MLEAF=0.313;MQ=48.9;MQRankSum=-0.109;QD=0.4;ReadPosRankSum=1.75;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,42:141:99:.:.:1035,0,3846:.	4	0	4	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	258.08	13	chr15	20534684	.	G	*	258.08	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.265;DP=508;ExcessHet=2.8389;FS=5.277;InbreedingCoeff=-0.3337;MLEAC=4;MLEAF=0.2;MQ=46.37;MQRankSum=-1.226;QD=0.84;ReadPosRankSum=0.041;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,42:141:99:.:.:1035,0,3846:.	6	0	4	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:1,50:51:99:1549,143,0	0	9	1	0
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	875.01	40	chr15	23361381	.	G	*	875.01	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.008;DP=747;ExcessHet=2.8389;FS=0.56;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=56.36;MQRankSum=-0.579;QD=1.81;ReadPosRankSum=2.14;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,13:106:99:.:.:248,0,3797:.	6	0	4	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	812.66	40	chr15	23361385	.	C	*	812.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.366;DP=726;ExcessHet=2.8389;FS=2.674;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.222;MQ=56.82;MQRankSum=0.504;QD=1.8;ReadPosRankSum=2.9;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,13:106:99:.:.:248,0,3797:.	5	0	4	1
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:34,29:99:97:.:.:1114,97,2042:.	0	0	10	0
chr15	23441526	23441526	G	0	exonic	GOLGA6L2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10397.6	49	chr15	23441526	.	G	*	10397.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=409;ExcessHet=0.7463;FS=4.863;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=26.59;ReadPosRankSum=-0.347;SOR=0.602	GT:AD:DP:GQ:PL	0/1:18,11:29:99:413,0,595	9	0	1	0
chr15	23441540	23441540	T	0	exonic	GOLGA6L2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	698.93	36	chr15	23441540	.	T	*	698.93	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.85;DP=328;ExcessHet=0.0405;FS=0.772;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=0.204;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:3,11:28:99:.:.:817,402,591:.	9	0	1	0
chr15	30140852	30140852	G	A	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon9:c.G602A:p.R201H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579365462498	.	.	0.0005	0	0	0.0008	0	0.0007	0	0	3.84e-05	1	26028	rs756210043	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	2.271e-05	0.0017	2.56e-05	3.815e-05	0	9.325e-05	0.0001	2.392e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0.0018	0	0	0	8.953e-05	0	0	0.572	0.06145	T	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.89	0.23688	T	-1.09	0.28290	N	0.098	0.07949	.	.	.	.	.	.	.	0.010477096	0.00233	T	0.005794	0.15042	T	.	.	.	.	0.0675242888579	0.06100	0.1912765564415625	0.19045	2.07987304828	0.94580	.	.	.	.	.	.	-0.6052	0.00135	T	-0.717518	0.04916	T	.	.	.	.	.	.	0.016632618	0.00211	0.030257832	0.01460	0.016632618	0.00211	0.030257832	0.01459	-3.654	0.18641	T	.	.	0.075	0.05447	B	.	.	-0.208284	0.03048	0.471	0.61405396698384684	0.06701	0.00046	0.00367	N	AEFI	0.020039	0.00752	N	.	.	.	.	.	.	2.12820365044115E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.2	-2.39	0.06223	-0.272000	0.08591	-3.048000	0.03108	-3.269000	0.00101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2015:0.2451:0.3068:0.2466	0.380	0.00366	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1288.43	34	chr15	30140852	.	G	A	1288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=439;ExcessHet=0;FS=4.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.91;MQRankSum=-1.001;QD=10.56;ReadPosRankSum=0.113;SOR=1.19	GT:AD:DP:GQ:PL	0/1:67,55:122:99:1300,0,1468	9	0	1	0
chr15	30954769	30954769	C	T	exonic	MTMR10	.	nonsynonymous SNV	MTMR10:NM_017762:exon10:c.G1060A:p.V354I	.	453	1047	19	3	0	25	0.011798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	.	0.0055	0.00379393	0.0085	0.0018	0.0045	0	0.0024	0.0117	0.0068	0.0103	0.0055303	855	154602	rs142149917	0.0055	0.0055	0.0053	0.0056	0.0093	0.0053	0.0053	0.0073	0.0067	0.0008	0.0032	0.0083	2.546e-05	0.0026	0.0093	0.0058	0.0053	0.0074	0.0048	0.0048	0.0053	0.0044	0.0075	0.0045	0.0044	0.0069	0.0067	0.0014	0	0.0048	0.0084	0	0.0024	0.0068	0.0075	0.0043	0.0066	0.368	0.18434	T	0.075	0.53426	T	0.522	0.37544	P	0.031	0.21939	B	0.000032	0.55875	N	0.121057	0.999992	0.81001	D	0.675	0.16386	N	-2.51	0.89293	D	0.21	0.05310	N	0.157	0.16308	-0.1454	0.79031	T	0.450	0.78437	T	10	0.008710831	0.00197	T	.	.	.	0.233	0.53499	.	.	0.900147024139	0.89915	0.14415867283362968	0.14338	0.165253988044	0.18640	0.407954901457	0.26173	T	0.225415	0.59015	T	-0.310434	0.07709	T	-0.213144	0.53395	T	0.0110094550205631	0.00159	T	0.827517	0.49142	T	0.06319648	0.13281	0.059898365	0.11318	0.06319648	0.13281	0.059898365	0.11318	-4.402	0.29585	T	.	.	0.065	0.05145	B	.;.;.	.;.;.	2.887990	0.38240	20.7	0.96400322932293181	0.29685	0.82802	0.41981	D	AEFDGBCI	0.390379	0.46923	N	-0.0270339556190789	0.40633	2.41646	0.0602346980887298	0.42569	2.57706	0.999999999995392	0.74766	0.722319	0.85440	0	0.708844	0.79440	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.32	4.4	0.52402	2.263000	0.42950	4.829000	0.45183	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.961000	0.51904	0.0:0.9259:0.0:0.0741	13.603	0.61499	830	0.39242	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.010101	0.005435	0.000000	0.000000	0.008621	0.018293	0.011364	0.05	680.43	38	chr15	30954769	.	C	T	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.061;SOR=0.593	GT:AD:DP:GQ:PL	0/1:47,31:78:99:692,0,1096	9	0	1	0
chr15	41853706	41853706	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon58:c.C9856T:p.P3286S	.	406	1114	2	0	0	2	0.000896861	.	.	.	2817449	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.051	.	0.0072	0.00119808	0.0068	0.0015	0.0048	0	0.0056	0.0104	0.0083	0.0019	0.004379	677	154602	rs188061762	0.0072	0.0071	0.0074	0.0070	0.0085	0.0070	0.0070	0.0083	0.0083	0.0015	0.0023	0.0040	0	0.0039	0.0007	0.0085	0.0068	0.0016	0.0050	0.0051	0.0054	0.0046	0.0084	0.0047	0.0046	0.0078	0.0076	0.0015	0	0.0031	0.0043	0	0.0052	0	0.0084	0.0052	0.0014	0.389	0.10874	T	0.021	0.58089	D	0.002	0.09854	B	0.007	0.12992	B	0.404301	0.13082	N	0.690860	1	0.08975	N	-1.04	0.01097	N	0.88	0.46028	T	0.27	0.04306	N	0.071	0.04426	-1.0405	0.17162	T	0.030	0.12935	T	10	0.0028273463	0.00045	T	.	.	.	0.051	0.14325	.	.	0.322510055762	0.31862	0.03691003545683327	0.03638	.	.	0.265804558992	0.05601	T	0.003559	0.02970	T	-0.622969	0.00105	T	-0.660522	0.08231	T	0.000451149537458513	0.00004	T	0.265873	0.04359	T	0.02644348	0.01702	0.0566479	0.10158	0.02644348	0.01702	0.0566479	0.10158	-2.197	0.04026	T	.	.	0.082	0.08705	B	.	.	0.617120	0.09856	6.618	0.66980803580355464	0.08219	0.12924	0.17561	N	AEFDGBCI	0.053107	0.09541	N	-1.02140638570243	0.08160	0.3816484	-0.942542186541089	0.11097	0.5632332	0.998349421353744	0.36796	0.460665	0.09802	0	0.588066	0.40923	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.74	3.82	0.43153	1.232000	0.32238	3.468000	0.38561	-0.168000	0.11412	0.003000	0.16062	0.998000	0.33993	0.002000	0.04165	0.1684:0.0:0.8316:0.0	9.618	0.38868	221	0.91431	.	PLA2G4B|RP11-380D11.2	Skin_Not_Sun_Exposed_Suprapubic|Testis	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002018	0.000000	0.004087	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	495.43	34	chr15	41853706	.	G	A	495.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.136;DP=359;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.317;SOR=0.748	GT:AD:DP:GQ:PL	0/1:22,22:44:99:507,0,608	9	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	337.46	33	chr15	43021291	.	A	G	337.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.992;DP=879;ExcessHet=0.7463;FS=129.905;InbreedingCoeff=-0.177;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.541;SOR=10.272	GT:AD:DP:GQ:PL	0/1:77,27:104:99:200,0,1490	7	0	3	0
chr15	43191645	43191645	T	C	exonic	CCNDBP1	.	nonsynonymous SNV	CCNDBP1:NM_012142:exon8:c.T830C:p.I277T	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.0445118252133	0.0018	0.00119808	0.0021	0.0009	0.0029	0	0	0.0031	0.0056	0.0001	0.0020569	318	154602	rs78193368	0.0021	0.0021	0.0021	0.0021	0.0298	0.0020	0.0020	0.0261	0.0247	0.0007	0.0032	0.0205	0	0.0001	0.0298	0.0018	0.0031	0.0003	0.0024	0.0024	0.0024	0.0024	0.0048	0.0022	0.0021	0.0039	0.0036	0.0003	0	0.0048	0.0196	0.0002	9.418e-05	0.0408	0.0026	0.0057	0.0002	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.977	0.73820	D	0.000003	0.62929	D	0.061085	0.992255	0.41596	D	2.675	0.78361	M	0.68	0.51952	T	-2.92	0.61129	D	0.756	0.75466	-0.5084	0.68345	T	0.271	0.64266	T	10	0.012171805	0.00263	T	0.044512	0.61527	D	0.485	0.77399	.	.	0.787488330306	0.78551	0.56531860541395	0.56458	0.684711321429	0.60236	0.607470273972	0.53957	T	0.49721	0.81917	T	-0.0530098	0.43989	T	0.152032	0.80312	D	0.0233625366792587	0.01067	T	0.89611	0.63771	D	0.59699816	0.72529	0.42116138	0.66057	0.59699816	0.72530	0.42116138	0.66057	-8.395	0.63732	D	.	.	0.447	0.62063	A	.	.	4.573703	0.72187	25.8	0.9985489717374868	0.93368	0.97514	0.75245	D	AEFBI	0.680581	0.64423	D	0.698838947571908	0.79556	7.102656	0.681039188547899	0.80941	7.412114	0.999999949269164	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	5.996000	0.70309	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	13.334	0.59947	17	0.98681	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017641	0.015152	0.024457	0.038235	0.000000	0.000000	0.000000	0.000000	0.05	837.43	35	chr15	43191645	.	T	C	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.718;DP=408;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.204;SOR=0.485	GT:AD:DP:GQ:PL	0/1:38,35:73:99:849,0,1047	9	0	1	0
chr15	43851172	43851172	C	T	exonic	WDR76	.	nonsynonymous SNV	WDR76:NM_001167941:exon9:c.C926T:p.P309L,WDR76:NM_024908:exon9:c.C1118T:p.P373L	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.025517666769	0.0002	0.000199681	0.0004	0	0.0005	0	0	0.0001	0.0033	0.0016	0.0003363	52	154602	rs139113690	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	0.0002	0.0003	0	2.519e-05	0	0.0028	0.0001	0.0004	0.0017	0.0001	0.0001	0.0001	0.0001	0.0014	8.165e-05	6.721e-05	0.0007	0.0005	0	0	0.0001	0	0	0	0	0.0001	0	0.0014	0.004	0.65419	D	0.005	0.72224	D	0.997	0.70673	D	0.96	0.70309	D	0.000767	0.41888	D	0.241820	0.999998	0.58761	D	2.285	0.65182	M	-0.2	0.66113	T	-4.68	0.79659	D	0.754	0.78641	-0.4950	0.68829	T	0.329	0.69682	T	10	0.25596753	0.42995	T	0.025518	0.48485	D	0.328	0.65026	.	.	0.747043374901	0.74476	0.6122725861697005	0.61159	0.467457784395	0.46126	0.529246330261	0.42928	T	0.210102	0.57050	T	-0.212469	0.19033	T	-0.102601	0.63196	T	0.221513524651527	0.21539	T	0.922708	0.71908	D	0.14033423	0.32382	0.1701998	0.39111	0.14033423	0.32382	0.1701998	0.39110	-10.416	0.76363	D	.	.	0.127	0.28203	B	.;.	.;.	4.919906	0.81018	27.5	0.99908562031365489	0.97875	0.85384	0.44511	D	AEFBIJ	0.221116	0.34578	N	0.65249761917559	0.76532	6.503687	0.677620802130479	0.80682	7.353625	0.783379331005341	0.23885	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	3.640000	0.54086	7.640000	0.63152	0.599000	0.40250	0.952000	0.33172	1.000000	0.68203	0.985000	0.61073	0.0:0.8428:0.1572:0.0	13.433	0.60518	6	0.99319	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.014620	0.050000	0.000000	0.003049	0.000000	0.05	1134.43	40	chr15	43851172	.	C	T	1134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.385;DP=423;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.45;SOR=0.62	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1146,0,1424	9	0	1	0
chr15	45061087	45061087	C	T	exonic	SORD	.	nonsynonymous SNV	SORD:NM_003104:exon4:c.C286T:p.P96S	.	431	1061	30	0	0	30	0.0139405	.	.	.	3539455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.517	0.0733825270408	.	.	7.417e-05	0.0006	0	0	0	4.497e-05	0	0	3.84e-05	1	26028	rs367815523	0.0005	0.0049	0.0005	0.0005	0.0020	0.0004	0.0004	0.0011	0.0009	0.0010	0.0009	0.0002	0.0007	0.0002	0.0020	0.0004	0.0005	0.0006	0.0008	0.0047	0.0008	0.0007	0.0016	0.0006	0.0006	0.0012	0.0011	0.0016	0.0011	0.0003	0.0003	0.0010	0	0	0.0006	0.0005	0.0004	0.0	0.91255	D	0.009	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.68	0.78455	M	3.44	0.05375	T	-7.84	0.96032	D	0.904	0.90476	-1.1546	0.00894	T	0.046	0.19800	T	10	0.69918245	0.72335	D	0.073383	0.71774	D	0.517	0.79400	.	.	0.485420873983	0.48173	0.9197059316775463	0.91946	0.907490128697	0.70902	0.666648447514	0.62360	T	0.265353	0.63721	T	0.113796	0.65744	D	-0.074317	0.65318	T	0.47631374001503	0.31762	T	0.982402	0.99990	D	0.94719636	0.95980	0.8657455	0.92572	0.94719636	0.95980	0.8657455	0.92573	-11.109	0.80252	D	.	.	0.940	0.85879	P	.;.	.;.	4.803971	0.78081	26.8	0.99918417027830564	0.98586	0.99309	0.94295	D	AEFGBI	0.944456	0.95155	D	0.571844831821852	0.71421	5.64843	0.512897990840352	0.68855	5.278264	0.99999999999784	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	7.830000	0.84907	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	0.0:1.0:0.0:0.0	15.778	0.78011	409	0.82198	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|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	0.006042	0.015152	0.000000	0.017544	0.000000	0.008621	0.000000	0.000000	0.1	1356.14	41	chr15	45061087	.	C	T	1356.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.842;DP=710;ExcessHet=0.2348;FS=12.84;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.99;MQRankSum=-7.223;QD=3.89;ReadPosRankSum=-1.719;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,31:182:99:0|1:45061086_G_A:847,0,6227:45061086	8	0	2	0
chr15	65913784	65913784	G	C	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon18:c.C2438G:p.S813C,MEGF11:NM_001385031:exon19:c.C2423G:p.S808C,MEGF11:NM_001385032:exon19:c.C2423G:p.S808C,MEGF11:NM_001385033:exon19:c.C2534G:p.S845C,MEGF11:NM_001385028:exon20:c.C2663G:p.S888C,MEGF11:NM_001385029:exon20:c.C2663G:p.S888C,MEGF11:NM_032445:exon20:c.C2663G:p.S888C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.109938499724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.998	0.90584	D	0.885	0.72001	P	0.000814	0.41658	U	0.000000	0.999869	0.81001	D	2.125	0.59049	M	-2.26	0.87352	D	-3.3	0.65858	D	0.85	0.84609	0.569	0.91491	D	0.727	0.90669	D	10	0.83059454	0.82223	D	0.109938	0.78711	D	0.646	0.86586	0.438	0.49157	0.626855883447	0.62381	0.6240186175572482	0.62334	0.128676360434	0.14503	0.796688139439	0.81459	T	0.27571	0.64826	T	0.210473	0.74874	D	0.0645531	0.74548	D	0.971769213676453	0.69441	D	0.805419	0.50011	T	0.26768422	0.49841	0.18743196	0.41974	0.26768422	0.49841	0.18743196	0.41974	-10.592	0.77374	D	.	.	0.421	0.60704	A	.;.;.;.	.;.;.;.	4.369525	0.67261	25.1	0.99196619681541931	0.55142	0.98902	0.88388	D	AEFBI	0.913207	0.87487	D	0.729320840263908	0.81553	7.549615	0.716489136622545	0.83632	8.072624	0.999999999882069	0.74766	0.660377	0.49826	0	0.546412	0.12157	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	4.65	4.65	0.57626	9.254000	0.94700	11.780000	0.96086	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.0:1.0:0.0	17.712	0.88232	186	0.92733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2868.12	34	chr15	65913784	.	G	C	2868.12	.	AC=2;AF=0.1;AN=20;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.51;SOR=1.143	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2891,282,0	9	1	0	0
chr15	69417444	69417444	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001367804:exon3:c.A143G:p.N48S,KIF23:NM_001367805:exon3:c.A143G:p.N48S,KIF23:NM_004856:exon3:c.A143G:p.N48S,KIF23:NM_138555:exon3:c.A143G:p.N48S	.	428	1080	13	1	0	15	0.00689655	.	.	.	726218	not_provided|KIF23-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0002	0.00279553	0.0015	0	0.0011	0	0	0.0004	0	0.0085	0.0013583	210	154602	rs192879947	0.0008	0.0008	0.0005	0.0011	0.0090	0.0008	0.0008	0.0085	0.0083	2.987e-05	0.0009	0.0027	5.042e-05	0	0.0061	0.0002	0.0014	0.0090	0.0006	0.0007	0.0005	0.0008	0.0091	0.0005	0.0005	0.0070	0.0062	0	0	0.0008	0.0026	0	0	0	0.0005	0.0014	0.0091	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.000061	0.52346	N	0.195620	0.993113	0.41840	D	-0.625	0.02162	N	-0.65	0.72237	T	0.5	0.02945	N	0.08	0.09631	-1.0807	0.07214	T	0.080	0.31615	T	10	0.0034461617	0.00061	T	.	.	.	0.152	0.39956	.	.	0.464821819423	0.46108	0.07012807034508808	0.06949	0.204006883498	0.22813	0.32368850708	0.13980	T	0.072884	0.47995	T	-0.571309	0.00217	T	-0.5866	0.13961	T	0.00738361362388325	0.00085	T	0.908809	0.68959	D	0.04059446	0.05823	0.045613233	0.06176	0.04407965	0.06984	0.04123185	0.04640	-2.56	0.06405	T	0.05705794585674227	0.01363	0.052	0.00428	B	.;.;.;.;.	.;.;.;.;.	0.044819	0.04601	1.272	0.81720292598187994	0.13826	0.07565	0.13576	N	AEFDBI	0.061391	0.11733	N	-1.14284557801011	0.05898	0.2701298	-1.10135828127927	0.07674	0.3742358	0.999757453963553	0.42595	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.43	-2.13	0.06745	0.152000	0.16120	0.770000	0.21388	0.756000	0.94297	0.033000	0.20612	0.433000	0.24865	0.983000	0.59808	0.6308:0.0:0.3692:0.0	9.486	0.38098	866	0.32446	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.1	3016.12	35	chr15	69417444	.	A	G	3016.12	.	AC=2;AF=0.1;AN=20;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.19;SOR=0.872	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3039,321,0	9	1	0	0
chr15	72666280	72666280	C	T	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon18:c.C2020T:p.P674S	.	376	1136	9	1	0	11	0.00481822	.	.	.	2814296	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0010	0.00179712	0.0021	0.0013	0.0070	0	0.0004	0.0022	0.0058	0.0007	0.0005763	15	26028	rs200621607	0.0019	0.0019	0.0019	0.0019	0.0048	0.0018	0.0018	0.0039	0.0037	0.0004	0.0044	0.0015	2.547e-05	0.0002	0.0048	0.0020	0.0023	0.0006	0.0015	0.0016	0.0014	0.0016	0.0050	0.0013	0.0013	0.0041	0.0037	0.0005	0	0.0050	0.0006	0	0	0	0.0018	0.0035	0.0002	0.66	0.04699	T	0.076	0.42614	T	0.859	0.47319	P	0.744	0.55835	P	.	.	.	.	1	0.08975	N	2.57	0.75187	M	1.91	0.23283	T	-4.47	0.77881	D	0.129	0.12341	-1.0001	0.29888	T	0.098	0.36728	T	9	0.0058475137	0.00131	T	.	.	.	0.024	0.04979	.	.	0.0551355673512	0.04727	0.10641298346349394	0.10571	.	.	0.296045929193	0.09813	T	0.039579	0.25236	T	-0.631578	0.00093	T	-0.679591	0.07008	T	0.049693697766378	0.05446	T	0.711729	0.32279	T	0.058731303	0.11850	0.11965609	0.28880	0.058731303	0.11850	0.11965609	0.28880	-3.378	0.14762	T	.	.	0.101	0.17488	B	.	.	0.582757	0.09512	6.289	0.97782818453179132	0.35944	0.00528	0.02449	N	AEFI	0.023757	0.01370	N	-0.547848073690352	0.20551	1.084207	-0.881336682063675	0.12537	0.6454333	9.96221243378444E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.39	-0.781	0.10412	1.650000	0.36908	-2.209000	0.04054	0.298000	0.18894	0.258000	0.24929	0.000000	0.08366	0.002000	0.04165	0.0:0.3356:0.3437:0.3207	2.155	0.03576	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	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	0.005895	0.000000	0.006812	0.004167	0.050000	0.008621	0.006250	0.007752	0.05	1609.43	45	chr15	72666280	.	C	T	1609.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.354;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.17;MQRankSum=4.55;QD=20.63;ReadPosRankSum=-1.843;SOR=0.643	GT:AD:DP:GQ:PL	0/1:12,66:78:75:1621,0,75	9	0	1	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016110	0.026667	0.005464	0.004310	0.055556	0.034483	0.025547	0.016393	0.1	560.14	45	chr15	75689635	.	C	T	560.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.42;DP=634;ExcessHet=0.2348;FS=28.292;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.15;MQRankSum=-8.672;QD=2.4;ReadPosRankSum=-1.318;SOR=2.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,18:128:99:0|1:75689631_A_G:369,0,4475:75689631	8	0	2	0
chr15	85579012	85579012	G	A	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.G944A:p.G315D,AKAP13:NM_007200:exon7:c.G944A:p.G315D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.00443624138405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.18757	T	0.123	0.92824	T	0.003	0.12996	B	0.003	0.12992	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	3.54	0.10291	T	-1.28	0.46503	N	0.161	0.16864	-0.9624	0.38723	T	0.017	0.06855	T	9	0.069895625	0.10092	T	0.004436	0.10844	T	0.218	0.51265	0.131	0.03577	0.633368641781	0.63036	0.11880909030391654	0.11807	0.0455527235742	0.04945	0.316777944565	0.12932	T	0.012666	0.39912	T	-0.165849	0.25863	T	-0.476007	0.24872	T	0.0766965579894642	0.09559	T	0.758124	0.38180	T	0.043789316	0.06888	0.07496407	0.16454	0.043789316	0.06888	0.07496407	0.16454	-4.036	0.24341	T	.	.	0.109	0.37445	B	.;.;.;.;.	.;.;.;.;.	2.256017	0.28821	17.92	0.99249807007989566	0.56825	0.06327	0.12324	N	AEFDBHCI	0.043507	0.06886	N	-1.02981249592054	0.07989	0.3730604	-1.01544897950037	0.09446	0.4699577	0.999965328463867	0.48965	0.730579	0.87903	0	0.724815	0.89359	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.31	1.84	0.24348	0.529000	0.22727	1.895000	0.29544	-0.830000	0.02882	0.001000	0.13787	0.035000	0.21413	0.120000	0.19168	0.2503:0.0:0.5421:0.2076	3.063	0.05832	714	0.56256	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2349.43	34	chr15	85579012	.	G	A	2349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.272;DP=525;ExcessHet=0;FS=6.714;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.49;SOR=0.868	GT:AD:DP:GQ:PL	0/1:109,100:209:99:2361,0,2617	9	0	1	0
chr15	85579995	85579995	C	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.C1927G:p.Q643E,AKAP13:NM_007200:exon7:c.C1927G:p.Q643E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00346029991749	7.7e-05	.	3.311e-05	0	0	0	0	4.52e-05	0	6.069e-05	2.59e-05	4	154602	rs199949454	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0001	8.31e-06	6.7e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	6.295e-06	1.656e-05	0.0001	1.971e-05	1.97e-05	3.853e-05	0	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	0.235	0.21066	T	1.0	0.01155	T	0.001	0.09854	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	0.9	0.23182	L	3.74	0.09542	T	-0.49	0.16598	N	0.034	0.01274	-0.9614	0.38916	T	0.019	0.08079	T	9	0.06269911	0.08057	T	0.00346	0.07817	T	0.095	0.27398	.	.	0.206203607746	0.20212	0.1084883885253902	0.10777	0.0395402123316	0.04217	0.239448279142	0.02741	T	0.013468	0.27056	T	-0.392522	0.02591	T	-0.671156	0.07535	T	0.0162123341397588	0.00395	T	0.651035	0.26183	T	0.1564056	0.35298	0.07528568	0.16560	0.1564056	0.35297	0.07528568	0.16560	-2.363	0.04911	T	.	.	0.073	0.04681	B	.;.;.	.;.;.	1.177753	0.15679	12.03	0.95467696876255448	0.27011	0.04112	0.09584	N	AEFDGBHCI	0.040012	0.05893	N	-0.851515975538713	0.12012	0.5830067	-0.835788217709547	0.13629	0.7080869	0.999999987988005	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	4.91	0.464	0.15918	-0.054000	0.11783	0.069000	0.14235	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.1585:0.3781:0.4634:0.0	9.010	0.35297	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2008.43	110	chr15	85579995	.	C	G	2008.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.799;DP=1059;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-1.963;SOR=0.966	GT:AD:DP:GQ:PL	0/1:76,80:156:99:2020,0,1814	9	0	1	0
chr15	86257020	86257020	T	G	splicing	AGBL1	NM_152336:exon8:c.901+2T>G	.	.	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	437	1084	1	0	0	1	0.000461042	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00199681	0.0013	0	0	0.0059	0.0096	0.0004	0.0071	0.0004	0.0010737	166	154602	rs138185152	0.0006	0.0006	0.0006	0.0007	0.0071	0.0006	0.0006	0.0064	0.0061	8.971e-05	0	0	0.0071	0.0085	0	0.0001	0.0006	0.0005	0.0011	0.0011	0.0008	0.0015	0.0077	0.0010	0.0009	0.0058	0.0052	4.813e-05	0	0	0	0.0077	0.0090	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.16218	0.26425	T	-0.00312526	0.70134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.936039	0.94115	33	0.98032861973538854	0.37728	0.94080	0.60052	D	AECI	.	.	.	0.933345363499559	0.93295	11.94559	0.747655391959208	0.85983	8.745716	0.934309942705221	0.27165	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.945055	0.60864	5.85	5.85	0.93663	4.558000	0.60498	7.793000	0.68941	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.0:0.0:0.0:1.0	13.96	0.63684	509	0.75304	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1426.43	35	chr15	86257020	.	T	G	1426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.553;DP=451;ExcessHet=0;FS=1.774;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.314;SOR=0.474	GT:AD:DP:GQ:PL	0/1:42,58:100:99:1438,0,982	9	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	568.24	102	chr15	88530840	.	T	C	568.24	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.277;DP=924;ExcessHet=2.8389;FS=147.511;InbreedingCoeff=-0.3348;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=0.194;SOR=10.283	GT:AD:DP:GQ:PL	0/1:60,24:84:99:150,0,1472	5	0	5	0
chr15	90487517	90487517	G	A	exonic	IQGAP1	.	nonsynonymous SNV	IQGAP1:NM_003870:exon33:c.G4183A:p.V1395I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0169547904486	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389075576	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.246	0.17353	T	0.393	0.15355	T	0.546	0.38028	P	0.2	0.36839	B	0.000012	0.62929	D	0.066094	0.999999	0.81001	D	1.49	0.37298	L	0.75	0.50192	T	-0.75	0.21003	N	0.65	0.66101	-1.0523	0.13763	T	0.069	0.28313	T	10	0.3829862	0.54333	T	0.016955	0.38457	T	0.152	0.39956	0.33	0.31519	0.567736105639	0.56438	0.3874670173396328	0.38661	0.246005621291	0.27129	0.738675355911	0.72777	T	0.218589	0.58136	T	-0.0192711	0.48956	T	-0.265458	0.48278	T	0.56400223791513	0.35007	D	0.816118	0.56300	T	0.08615521	0.20015	0.0968629	0.23033	0.08615521	0.20015	0.0968629	0.23033	-5.46	0.41492	T	.	.	0.115	0.23255	B	.;.	.;.	4.514655	0.70726	25.6	0.99565781805389764	0.72075	0.99260	0.93590	D	AEFDBI	0.933021	0.92427	D	-0.0144107508010017	0.41204	2.460398	0.196033467042102	0.49628	3.163808	0.999994460957282	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	4.77	0.60425	8.071000	0.89291	7.544000	0.60141	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0763:0.0:0.9236:0.0	13.177	0.59055	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1417.43	40	chr15	90487517	.	G	A	1417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.043;DP=432;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-1.039;SOR=0.821	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1429,0,1221	9	0	1	0
chr15	90876343	90876343	G	C	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon3:c.G266C:p.R89T,FURIN:NM_001289824:exon3:c.G266C:p.R89T,FURIN:NM_001382619:exon3:c.G266C:p.R89T,FURIN:NM_001382620:exon3:c.G266C:p.R89T,FURIN:NM_001382621:exon3:c.G266C:p.R89T,FURIN:NM_001382622:exon3:c.G266C:p.R89T,FURIN:NM_002569:exon3:c.G266C:p.R89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00533374619933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.431e-06	3.42e-06	1.366e-06	5.515e-06	4.512e-06	1.01e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.512e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.08458	T	0.484	0.16522	T	0.001	0.07471	B	0.004	0.10090	B	0.000033	0.55875	D	0.155049	0.980269	0.39648	D	1.46	0.36832	L	1.54	0.30133	T	-1.07	0.33598	N	0.564	0.58798	-1.0830	0.06776	T	0.051	0.21844	T	10	0.12989408	0.24718	T	0.005334	0.13648	T	0.141	0.37795	0.36	0.36385	0.491313100916	0.48765	0.6240039514055448	0.62333	1.27026454473	0.82252	0.531188488007	0.43202	T	0.18899	0.54306	T	-0.116059	0.33770	T	-0.404487	0.32862	T	0.510904669761658	0.33031	D	0.845015	0.54691	T	0.3193391	0.54584	0.22740099	0.47749	0.3193391	0.54584	0.22740099	0.47748	-5.282	0.39764	T	.	.	0.144	0.34667	B	.;.;.;.	.;.;.;.	3.232893	0.44098	21.9	0.9034535654992869	0.19609	0.94488	0.61327	D	AEFDGBCI	0.666126	0.63470	D	-0.237113439073649	0.31620	1.774918	-0.0334396943324517	0.38214	2.248302	0.999999017019089	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	2.589000	0.45810	5.786000	0.49836	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.329	0.82836	702	0.57624	Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-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	.	.	.	.	.	.	.	.	0.05	521.43	34	chr15	90876343	.	G	C	521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.92;DP=374;ExcessHet=0;FS=2.425;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.14;SOR=0.694	GT:AD:DP:GQ:PL	0/1:25,24:49:99:533,0,616	9	0	1	0
chr16	285530	285530	G	T	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon7:c.G946T:p.A316S	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00922234360466	0.0029	0.00139776	0.0029	0.0005	0.0023	0	0.0008	0.0046	0.0011	0.0004	0.0026326	407	154602	rs145351921	0.0038	0.0038	0.0038	0.0037	0.0043	0.0037	0.0036	0.0042	0.0041	0.0006	0.0030	0.0071	2.519e-05	0.0018	0.0028	0.0043	0.0033	0.0008	0.0030	0.0030	0.0030	0.0030	0.0061	0.0027	0.0027	0.0051	0.0047	0.0008	0	0.0061	0.0063	0	0.0008	0.0034	0.0043	0.0014	0.0004	0.722	0.05485	T	0.655	0.06621	T	0.002	0.09854	B	0.014	0.16862	B	0.108310	0.19533	N	0.514813	1	0.08975	N	1.445	0.36358	L	2.67	0.12473	T	0.9	0.01618	N	0.225	0.25253	-1.0230	0.22736	T	0.025	0.10866	T	10	0.0061183274	0.00138	T	0.009222	0.24225	T	0.019	0.03383	.	.	0.21737058555	0.21362	0.3999918558102184	0.39914	.	.	0.426299333572	0.28702	T	0.007525	0.06930	T	-0.619809	0.00110	T	-0.662823	0.08076	T	0.00219660188476689	0.00023	T	0.50325	0.15827	T	0.08271485	0.19066	0.06492982	0.13085	0.08271485	0.19066	0.06492982	0.13084	-2.491	0.05997	T	.	.	0.082	0.08802	B	.;.	.;.	1.620854	0.20700	14.87	0.64506354351671213	0.07512	0.24164	0.22308	N	AEFDBCI	0.276052	0.39087	N	-0.649869483523664	0.17464	0.8988896	-0.596423600209695	0.19585	1.051485	0.0901689293654065	0.16102	0.646311	0.45356	0	0.524598	0.11158	1	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.13	3.18	0.35615	1.497000	0.35257	2.559000	0.33304	0.612000	0.49041	0.188000	0.24163	0.969000	0.29651	0.106000	0.18562	0.0961:0.0:0.9039:0.0	10.818	0.45791	758	0.50837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	863.43	35	chr16	285530	.	G	T	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.244;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.32;SOR=0.743	GT:AD:DP:GQ:PL	0/1:33,34:67:99:875,0,790	9	0	1	0
chr16	682984	682984	C	T	exonic	JMJD8	.	nonsynonymous SNV	JMJD8:NM_001323920:exon7:c.G593A:p.R198Q,JMJD8:NM_001323922:exon7:c.G593A:p.R198Q,JMJD8:NM_001005920:exon8:c.G683A:p.R228Q,JMJD8:NM_001323918:exon8:c.G683A:p.R228Q	.	416	1095	9	0	2	11	0.00409277	.	.	.	2758933	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0782045195388	.	0.000199681	2.52e-05	0	0	0.0001	0	1.528e-05	0	6.089e-05	2.59e-05	4	154602	rs200168703	1.232e-05	1.231e-05	8.172e-06	1.651e-05	0.0003	7.7e-06	6.35e-06	6.094e-05	2.522e-05	2.987e-05	0	0	2.519e-05	0	0.0003	8.994e-06	1.657e-05	3.478e-05	1.969e-05	1.968e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	6.532e-05	0	0.0002	0	0	0	0	0	0.118	0.29823	T	0.566	0.10173	T	.	.	.	.	.	.	0.012179	0.29266	N	0.311579	0.993509	0.41961	D	.	.	.	-0.55	0.71068	T	-1.28	0.34198	N	0.349	0.39760	-0.6699	0.61833	T	0.220	0.58292	T	10	0.14693078	0.27849	T	0.078205	0.72950	D	0.145	0.38592	.	.	0.417971555824	0.41416	0.5012058606327796	0.50042	0.035236728144	0.03713	0.307548940182	0.11537	T	.	.	.	-0.180551	0.23652	T	-0.327997	0.41691	T	0.144772902131081	0.16679	T	0.944306	0.78939	D	0.075110175	0.16902	0.08510762	0.19628	0.075110175	0.16901	0.08510762	0.19627	-5.938	0.45758	T	.	.	0.073	0.11941	B	.;.;.	.;.;.	1.823361	0.23168	15.91	0.98255746230591146	0.39621	0.30513	0.24101	N	AEFDGBHCI	0.145455	0.26866	N	-0.560648302165849	0.20151	1.060195	-0.677428023660133	0.17526	0.9322923	0.999999999650229	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.639134	0.45391	0	0.735409	0.98432	0	.	.	4.42	2.48	0.29194	0.938000	0.28562	0.775000	0.21430	-0.182000	0.10109	0.001000	0.13787	0.204000	0.23592	0.013000	0.09966	0.0:0.8279:0.0:0.1721	9.429	0.37760	632	0.64850	.;JmjC domain;JmjC 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	.	.	.	.	.	.	.	.	0.05	795.43	36	chr16	682984	.	C	T	795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.73;DP=398;ExcessHet=0;FS=4.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-4.177;SOR=1.088	GT:AD:DP:GQ:PL	0/1:42,30:72:99:807,0,1044	9	0	1	0
chr16	1352110	1352110	C	G	exonic	GNPTG	.	nonsynonymous SNV	GNPTG:NM_032520:exon2:c.C61G:p.P21A	Mucolipidosis III gamma, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1891980	not_provided|Inborn_genetic_diseases|Retinal_dystrophy	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.775739408946	.	.	0.0001	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs778042839	1.686e-05	1.984e-05	1.391e-05	1.987e-05	0.0001	1.141e-05	9.59e-06	6.597e-05	5.012e-05	0	0	0	0	0	0	7.311e-06	0.0001	0.0001	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.789	0.03209	T	0.514	0.18071	T	0.075	0.24198	B	0.018	0.18489	B	0.664663	0.10396	U	0.748207	1	0.08975	N	1.32	0.33002	L	-2.3	0.87671	D	-0.18	0.09796	N	0.205	0.22742	-0.8161	0.54177	T	0.327	0.69555	T	10	0.11647087	0.21971	T	0.775739	0.98230	D	0.141	0.37795	0.235	0.16457	0.514923749907	0.51134	0.4694675371686417	0.46865	0.00671276342962	0.00592	0.71691685915	0.69598	T	0.119381	0.44086	T	-0.250844	0.13993	T	-0.338418	0.40524	T	0.0227542757447439	0.00994	T	0.527047	0.17380	T	0.02305781	0.01014	0.019575182	0.00095	0.02305781	0.01014	0.019575182	0.00095	-2.52	0.05919	T	0.1345384348404422	0.14542	0.048	0.00112	B	.;.	.;.	0.849918	0.12221	8.765	0.6905424940180459	0.08850	0.79800	0.39615	D	AEFDGBHCI	0.085344	0.17300	N	-1.17544226120631	0.05373	0.2447818	-1.22688107143386	0.05481	0.2613078	0.999999999999012	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.19	-1.97	0.07091	-0.811000	0.04607	0.516000	0.19122	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.274000	0.23868	0.2718:0.4693:0.0:0.2589	3.996	0.09048	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1361.43	33	chr16	1352110	.	C	G	1361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.91;DP=427;ExcessHet=0;FS=4.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.19;SOR=1.165	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1373,0,1153	9	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	0.1	2362.12	35	chr16	2770683	.	C	T	2362.12	.	AC=2;AF=0.1;AN=20;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.16;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2385,242,0	9	1	0	0
chr16	4893613	4893613	G	A	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon13:c.C1420T:p.R474W	.	418	1097	6	1	0	8	0.00363306	.	.	.	3591280	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.0434536821318	0.0003	0.000399361	0.0003	0	0.0005	0.0002	0	0.0003	0	0.0003	0.000207	32	154602	rs190987244	0.0001	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0	0.0002	0	0	0	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.814e-05	0	0.0002	0	0	0	0	0.0003	0.0009	0	0.001	0.78490	D	0.002	0.79402	D	0.978	0.58756	D	0.306	0.41250	B	0.016368	0.27995	N	0.321942	0.526321	0.31939	D	2.2	0.62015	M	1.26	0.36330	T	-4.17	0.75456	D	0.39	0.43126	-0.8675	0.50717	T	0.071	0.28904	T	10	0.19036761	0.34677	T	0.043454	0.60992	D	0.085	0.24743	.	.	0.712228473958	0.70971	0.5691765056347079	0.56845	0.0193887132627	0.01897	0.342622578144	0.16830	T	0.673494	0.90335	D	-0.302014	0.08471	T	-0.36847	0.37068	T	0.280912101268768	0.24210	T	0.777622	0.41060	T	0.1915127	0.40781	0.22081965	0.46871	0.1915127	0.40781	0.22081965	0.46870	-5.074	0.37632	T	.	.	0.116	0.23500	B	.;.	.;.	3.981795	0.58545	24.0	0.99876319427441607	0.95328	0.90203	0.51196	D	AEFDBI	0.752813	0.69319	D	0.16764168529389	0.49650	3.163051	0.172852519671912	0.48365	3.053399	0.95121965112771	0.27943	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.78	2.63	0.30420	2.389000	0.44060	5.424000	0.48574	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:0.5122:0.4878	10.395	0.43376	470	0.78111	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1937.12	33	chr16	4893613	.	G	A	1937.12	.	AC=2;AF=0.1;AN=20;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.27;SOR=0.966	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1960,192,0	9	1	0	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	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:80,48:158:99:142,0,919	0	0	10	0
chr16	16214437	16214437	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon5:c.G487A:p.D163N,ABCC6:NM_001351800:exon5:c.G145A:p.D49N	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	377120	Pseudoxanthoma_elasticum,_forme_fruste|not_provided|not_specified|Arterial_calcification,_generalized,_of_infancy,_2|Autosomal_recessive_inherited_pseudoxanthoma_elasticum	MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608|MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.194	.	0.0077	0.00978435	0.0043	0.0369	0.0049	0	0	0.0001	0.0052	0.0001	0.0013195	204	154602	rs192110266	0.0009	0.0009	0.0010	0.0008	0.0301	0.0009	0.0009	0.0285	0.0279	0.0301	0.0025	0	0	0	0.0018	7.414e-05	0.0024	0.0002	0.0087	0.0088	0.0088	0.0085	0.0292	0.0083	0.0081	0.0278	0.0273	0.0292	0	0.0056	0	0	0	0.0034	0.0001	0.0067	0	0.065	0.36310	T	0.056	0.79402	T	1.0	0.90584	D	0.874	0.62049	P	0.038117	0.24322	U	0.280095	0.903571	0.36231	D	2.8	0.81625	M	0.77	0.49642	T	-3.56	0.68880	D	0.365	0.40665	-0.5870	0.65340	T	0.135	0.45029	T	10	0.00690341	0.00157	T	.	.	.	0.194	0.47447	.	.	0.775907783384	0.77384	0.3303595977899473	0.32948	1.4416008843	0.85986	0.42518723011	0.28550	T	0.416484	0.76942	T	-0.419493	0.01723	T	-0.352352	0.38936	T	0.0386368145098795	0.03444	T	0.823618	0.48435	T	0.15747263	0.35480	0.18213718	0.41121	0.13218369	0.30787	0.17699212	0.40270	-5.095	0.37855	T	.	.	0.095	0.14933	B	.;.	.;.	4.034639	0.59692	24.1	0.99832029884424944	0.91370	0.94465	0.61253	D	AEFBI	0.514097	0.54161	D	0.391854008095717	0.60981	4.293237	0.240741220416007	0.52124	3.38945	0.999899408751099	0.45129	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	5.333000	0.65692	2.103000	0.30614	0.599000	0.40250	0.999000	0.42656	0.970000	0.29701	0.658000	0.32913	0.0:1.0:0.0:0.0	13.213	0.59264	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	1	0	0	0	0	1	0	0.002688	0.008333	0.004573	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	650.12	31	chr16	16214437	.	C	T	650.12	.	AC=2;AF=0.1;AN=20;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=45.65;QD=28.27;SOR=1.426	GT:AD:DP:GQ:PL	1/1:0,23:23:69:673,69,0	9	1	0	0
chr16	19477498	19477498	G	A	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon9:c.G1411A:p.V471M,TMC5:NM_001308161:exon12:c.G1993A:p.V665M,TMC5:NM_001105248:exon13:c.G2149A:p.V717M,TMC5:NM_001105249:exon13:c.G2149A:p.V717M,TMC5:NM_001261841:exon13:c.G2149A:p.V717M	.	.	.	.	.	.	.	.	.	.	.	3343147	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.0931693974288	.	.	2.536e-05	9.643e-05	0	0	0	1.516e-05	0	6.991e-05	3.88e-05	6	154602	rs769075056	1.44e-05	1.505e-05	1.501e-05	1.378e-05	0.0007	9.25e-06	7.85e-06	0.0002	0.0001	0.0002	0	0	0	0	0.0007	6.303e-06	3.318e-05	1.168e-05	2.629e-05	2.627e-05	0	5.382e-05	7.239e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.72154	D	0.004	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.997895	0.44295	D	2.865	0.83145	M	-0.33	0.72785	T	-2.43	0.53258	N	0.517	0.58117	0.161	0.85240	D	0.537	0.82907	D	9	0.377331	0.53931	T	0.093169	0.76024	D	0.509	0.78910	.	.	0.597732455086	0.59452	0.5597730924617825	0.55904	0.519446559066	0.49770	0.589680075645	0.51448	T	0.104247	0.45277	T	0.0573424	0.59280	T	-0.0547781	0.66695	D	0.623257410450222	0.37340	D	0.960404	0.85096	D	0.21651863	0.44112	0.3470793	0.60368	0.21651863	0.44112	0.3470793	0.60367	-9.946	0.73588	D	.	.	0.228	0.46061	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.798185	0.77929	26.8	0.99881589889273825	0.95733	0.94342	0.60860	D	AEFDBI	0.654225	0.62698	D	0.616576533106642	0.74222	6.096215	0.520111323801675	0.69344	5.347048	0.999993807488572	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	5.784000	0.68638	7.486000	0.59313	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	16.753	0.85351	583	0.69484	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1037.43	36	chr16	19477498	.	G	A	1037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.126;DP=406;ExcessHet=0;FS=1.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.634;SOR=0.872	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1049,0,1076	9	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	262.45	33	chr16	29383301	.	T	C	262.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.962;DP=962;ExcessHet=0.7463;FS=13.835;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=51.24;MQRankSum=-0.81;QD=0.57;ReadPosRankSum=-5.196;SOR=2.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,12:125:99:0|1:29383231_G_T:129,0,4271:29383231	7	0	3	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	700.3	110	chr16	29485668	.	C	*	700.3	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.202;DP=1076;ExcessHet=7.0302;FS=13.803;InbreedingCoeff=-0.6;MLEAC=5;MLEAF=0.278;MQ=29.59;MQRankSum=-0.241;QD=0.96;ReadPosRankSum=-2.645;SOR=0.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,38:190:99:0|1:29485610_ACACACTC_A:214,0,5381:29485610	4	0	5	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5807.41	35	chr16	29810105	.	GGCAGCGGCA	G	5807.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.402;DP=612;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.509;SOR=0.706	GT:AD:DP:GQ:PL	0/1:56,54:110:99:2037,0,2139	7	0	3	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	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	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.1	706.14	51	chr16	30525595	.	T	C	706.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.484;DP=443;ExcessHet=0.2348;FS=0.811;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=1.04;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,17:54:99:0|1:30525595_T_C:358,0,1482:30525595	8	0	2	0
chr16	30782443	30782443	C	-	exonic	ZNF629	.	frameshift deletion	ZNF629:NM_001080417:exon3:c.1885delG:p.A629Lfs*71,ZNF629:NM_001345970:exon3:c.1843delG:p.A615Lfs*71	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1151.39	36	chr16	30782442	.	GC	G	1151.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.931;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=0.299;SOR=0.693	GT:AD:DP:GQ:PL	0/1:28,40:68:99:1163,0,726	9	0	1	0
chr16	53157390	53157390	A	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001308319:exon2:c.A1301G:p.H434R,CHD9:NM_001352127:exon2:c.A1301G:p.H434R,CHD9:NM_001382353:exon2:c.A1301G:p.H434R,CHD9:NM_025134:exon2:c.A1301G:p.H434R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0155265363499	8.2e-05	.	2.49e-05	0	0	0	0	4.502e-05	0	0	1.94e-05	3	154602	rs376012427	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.349e-05	3.313e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.175	0.92824	T	0.267	0.34500	B	0.039	0.29395	B	0.000005	0.62929	D	0.000000	0.949683	0.37662	D	1.735	0.44892	L	0.62	0.53302	T	-1.45	0.65742	N	0.619	0.63459	-0.5326	0.67443	T	0.269	0.64045	T	10	0.19600129	0.35475	T	0.015527	0.36313	T	0.155	0.40530	.	.	0.570342365613	0.56701	0.4735714844621556	0.47276	0.0788734340217	0.08873	0.532048225403	0.43324	T	0.076553	0.37202	T	-0.0368952	0.46410	T	-0.227128	0.52049	T	0.543125510215759	0.34221	D	0.833717	0.50261	T	0.52418566	0.68499	0.50662553	0.71485	0.52418566	0.68500	0.50662553	0.71486	-3.732	0.19791	T	.	.	0.082	0.21877	B	.;.;.;.;.;.	.;.;.;.;.;.	3.311228	0.45497	22.1	0.99401036351522232	0.62794	0.98284	0.81251	D	AEFBI	0.681012	0.64451	D	0.370469263490506	0.59827	4.165592	0.471316961708477	0.66096	4.907925	0.999998277839823	0.74766	0.653281	0.48532	0	0.653731	0.59785	0	0.675528	0.61593	0	0.635551	0.53088	0	.	.	5.69	5.69	0.88346	6.365000	0.73028	7.948000	0.75775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.953	0.79644	635	0.64580	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2378.43	33	chr16	53157390	.	A	G	2378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.25;DP=523;ExcessHet=0;FS=0.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.553;SOR=0.637	GT:AD:DP:GQ:PL	0/1:93,101:194:99:2390,0,2360	9	0	1	0
chr16	53231729	53231729	C	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon9:c.C1034G:p.A345G,CHD9:NM_001352157:exon9:c.C1034G:p.A345G,CHD9:NM_001352158:exon9:c.C935G:p.A312G,CHD9:NM_001382354:exon9:c.C935G:p.A312G,CHD9:NM_001382355:exon9:c.C935G:p.A312G,CHD9:NM_001308319:exon10:c.C2456G:p.A819G,CHD9:NM_001352127:exon10:c.C2456G:p.A819G,CHD9:NM_001382353:exon10:c.C2456G:p.A819G,CHD9:NM_025134:exon10:c.C2456G:p.A819G	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0101559447693	8.5e-05	.	3.335e-05	0	0	0	0	6.034e-05	0	0	2.59e-05	4	154602	rs369431411	1.781e-05	1.779e-05	1.5e-05	2.066e-05	0.0003	1.239e-05	1.053e-05	6.105e-05	2.526e-05	0	0	0	0	0	0.0003	1.891e-05	4.979e-05	0	1.321e-05	1.316e-05	1.291e-05	1.352e-05	2.949e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.949e-05	0	0	0.258	0.17014	T	0.703	0.15206	T	0.0	0.02946	B	0.005	0.11217	B	0.001243	0.39669	N	0.110169	0.949534	0.37656	D	0.25	0.09762	N	-0.69	0.72678	T	-0.29	0.20576	N	0.113	0.10056	-0.8387	0.52733	T	0.195	0.54927	T	10	0.11691192	0.22066	T	0.010156	0.26368	T	0.097	0.27909	.	.	0.198222871337	0.19423	0.3808493604993245	0.37999	0.495656575686	0.48101	0.581760168076	0.50334	T	0.193202	0.61496	T	-0.25243	0.13803	T	-0.420078	0.31065	T	0.114574417471886	0.13891	T	0.826217	0.49813	T	0.09955289	0.23496	0.10731409	0.25834	0.09955289	0.23496	0.10731409	0.25833	-6.098	0.47092	T	.	.	0.091	0.13174	B	.;.;.;.;.	.;.;.;.;.	2.746770	0.35995	20.1	0.99074206165394885	0.51810	0.89905	0.50681	D	AEFBI	0.312437	0.41788	N	-0.200657430973131	0.33107	1.874604	0.0127797163326239	0.40308	2.403432	0.998453000296212	0.36996	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	2.113000	0.41525	1.376000	0.25995	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.998000	0.85391	0.0:0.8568:0.1432:0.0	14.971	0.70887	179	0.93046	Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.;.;Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow 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	.	.	.	.	.	.	.	.	0.05	888.43	33	chr16	53231729	.	C	G	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.506;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-2.487;SOR=0.788	GT:AD:DP:GQ:PL	0/1:26,42:68:99:900,0,537	9	0	1	0
chr16	70156499	70156499	G	A	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.G1960A:p.A654T,PDPR:NM_001322119:exon17:c.G1054A:p.A352T,PDPR:NM_001322117:exon19:c.G2260A:p.A754T,PDPR:NM_017990:exon19:c.G2260A:p.A754T	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	0.122502253759	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs755313163	4.105e-06	4.788e-06	5.446e-06	2.751e-06	2.52e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	2.52e-05	0	0	2.699e-06	0	2.319e-05	1.97e-05	2.626e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.003	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.989	0.78396	D	0.000053	0.53742	D	0.162984	1	0.81001	D	3.3	0.90472	M	-1.52	0.81478	D	-3.61	0.72120	D	0.52	0.61933	0.824	0.94708	D	0.780	0.92537	D	10	0.9600271	0.95401	D	0.122502	0.80349	D	0.731	0.90589	0.814	0.92925	0.933530200483	0.93284	0.8180442442956175	0.81761	0.3035614747	0.32679	0.442417025566	0.30907	T	0.371838	0.92107	T	0.117683	0.66139	D	0.112795	0.77758	D	0.87972617149353	0.52970	D	0.958004	0.88094	D	0.34017396	0.56293	0.3796138	0.63012	0.34017396	0.56294	0.3796138	0.63012	-8.933	0.67264	D	.	.	0.136	0.45990	B	.;.;.;.;.;.	.;.;.;.;.;.	4.241536	0.64305	24.7	0.9977663556093388	0.86433	0.98907	0.88457	D	AEFDGBI	0.907002	0.86048	D	0.626818863612267	0.74877	6.20785	0.498405537057018	0.67883	5.144182	0.999999999999381	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	5.09	0.68647	8.088000	0.89344	9.765000	0.81528	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:0.0:0.8648:0.1352	16.043	0.80498	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel 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	.	.	.	.	.	.	.	.	0.05	3251.43	248	chr16	70156499	.	G	A	3251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.39;DP=1002;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.938;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,127:226:99:1|0:70156498_C_T:3263,0,3764:70156498	9	0	1	0
chr16	72793464	72793464	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon8:c.G6476A:p.R2159H,ZFHX3:NM_006885:exon9:c.G9218A:p.R3073H	.	424	1096	2	0	0	2	0.000911577	.	.	.	3627856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.565	0.042522205055	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs779790829	8.893e-06	8.893e-06	1.225e-05	5.5e-06	9.892e-06	4.96e-06	3.82e-06	5.31e-06	3.88e-06	0	0	0	0	3.745e-05	0	9.892e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000097	0.51296	D	0.000000	1	0.81001	D	0.695	0.17993	N	-0.94	0.75325	T	-3.83	0.75537	D	0.715	0.71765	0.073	0.83682	D	0.562	0.84082	D	10	0.6825511	0.71367	D	0.042522	0.60510	D	0.565	0.82232	0.428	0.47515	0.457822240193	0.45404	0.5760768955835824	0.57536	0.116968664374	0.13187	0.889744877815	0.95228	D	0.367065	0.73220	T	0.205719	0.74427	D	0.0732113	0.75125	D	0.604799289794655	0.36591	D	0.989657	0.96919	D	0.47342387	0.65500	0.41763195	0.65811	0.47342387	0.65501	0.41763195	0.65811	-10.014	0.73996	D	.	.	0.877	0.81295	P	.;.;.	.;.;.	5.263496	0.88378	29.6	0.98090219219167563	0.38181	0.95951	0.66863	D	AEFDBCI	0.892122	0.82876	D	0.832093380088277	0.88066	9.441014	0.839384483896911	0.92382	11.394	0.999999999999848	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	7.905000	0.86479	7.738000	0.67953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.020	0.97491	184	0.92813	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4364.12	35	chr16	72793464	.	C	T	4364.12	.	AC=2;AF=0.1;AN=20;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.62;SOR=0.783	GT:AD:DP:GQ:PL	1/1:0,138:138:99:4387,414,0	9	1	0	0
chr16	75414590	75414590	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon2:c.G170A:p.S57N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00761520582534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.39820	T	0.226	0.25438	T	0.003	0.11197	B	0.001	0.04355	B	0.233843	0.15860	N	0.673458	0.996543	0.22981	N	1.95	0.52479	M	0.92	0.44461	T	-0.63	0.34795	N	0.19	0.20793	-1.0416	0.16830	T	0.106	0.38636	T	10	0.14283314	0.27125	T	0.007615	0.20192	T	0.095	0.27398	0.157	0.06070	0.629112818682	0.62608	0.02188016319116512	0.02140	0.0131043289129	0.01263	0.479553222656	0.35995	T	0.036751	0.24220	T	-0.229881	0.16666	T	-0.567985	0.15635	T	0.479482755643933	0.31878	T	0.562144	0.19863	T	0.11928983	0.28089	0.078210615	0.17497	0.11928983	0.28089	0.078210615	0.17497	-3.813	0.20999	T	.	.	0.064	0.17189	B	.;.;.	.;.;.	2.067376	0.26289	17.07	0.9942059769889221	0.63742	0.67476	0.33447	D	AEFBI	0.266404	0.38333	N	-0.0348032291430037	0.40283	2.389696	0.154357485495578	0.47373	2.968535	0.999999663528292	0.74766	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	2.160000	0.41975	0.180000	0.15620	0.599000	0.40250	1.000000	0.71638	0.965000	0.29475	0.997000	0.79791	0.0:1.0:0.0:0.0	15.216	0.72954	635	0.64580	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	38.05	46	chr16	75414590	.	C	T	38.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.514;DP=411;ExcessHet=0;FS=25.735;InbreedingCoeff=-0.0812;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=-0.166;SOR=4.802	GT:AD:DP:GQ:PL	0/1:28,10:38:49:49,0,416	8	0	1	1
chr16	81108667	81108667	G	A	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	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	.	.	.	.	.	.	.	.	0.05	87.43	58	chr16	81108667	.	G	A	87.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.301;DP=481;ExcessHet=0;FS=72.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.225;SOR=6.438	GT:AD:DP:GQ:PL	0/1:64,24:88:99:99,0,1319	9	0	1	0
chr16	86511477	86511477	G	A	exonic	FOXF1	.	nonsynonymous SNV	FOXF1:NM_001451:exon1:c.G908A:p.S303N	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	326503	not_provided|Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment	MedGen:C3661900|MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.476	.	0.0039	0.00559105	0.0015	0.0226	0.0017	0	0	3.02e-05	0.0024	0	0.0010349	160	154602	rs200676463	0.0004	0.0004	0.0005	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0011	0	0	0	0.0007	1.173e-05	0.0010	4.725e-05	0.0044	0.0044	0.0046	0.0041	0.0152	0.0041	0.0040	0.0142	0.0138	0.0152	0	0.0018	0	0	0	0	4.412e-05	0.0024	0	0.016	0.51853	D	0.19	0.28482	T	0.984	0.60733	D	0.784	0.57456	P	0.000011	0.62929	D	0.114699	0.999999	0.58761	D	1.765	0.45800	L	-3.88	0.95953	D	-0.31	0.12099	N	0.123	0.11483	0.566	0.91444	D	0.754	0.91616	D	10	0.00680995	0.00155	T	.	.	.	0.476	0.76816	.	.	0.769513769259	0.76739	0.4792855686471884	0.47848	.	.	0.660281300545	0.61449	T	0.260074	0.63141	T	-0.359836	0.04139	T	-0.27603	0.47209	T	0.0218487827989522	0.00892	T	0.743326	0.36245	T	0.20073064	0.42058	0.29722312	0.55755	0.22668646	0.45354	0.28386304	0.54381	-5.172	0.38656	T	0.13720707333717172	0.15074	0.089	0.12276	B	.	.	4.078307	0.60652	24.2	0.99546046676301714	0.70836	0.97649	0.76151	D	AEFDBHCI	0.777168	0.71005	D	0.511337524782395	0.67757	5.124693	0.490308365544267	0.67345	5.071711	0.999999999999135	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.620976	0.48614	0	.	.	4.24	4.24	0.49486	4.732000	0.61723	11.591000	0.93406	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.593	0.76303	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1124.43	39	chr16	86511477	.	G	A	1124.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.286;DP=397;ExcessHet=0;FS=2.279;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-0.074;SOR=0.547	GT:AD:DP:GQ:PL	0/1:19,50:69:99:1136,0,375	9	0	1	0
chr16	86532136	86532136	G	A	exonic	MTHFSD	.	nonsynonymous SNV	MTHFSD:NM_001159377:exon8:c.C1027T:p.R343C,MTHFSD:NM_001159378:exon8:c.C1027T:p.R343C,MTHFSD:NM_001159379:exon8:c.C1024T:p.R342C,MTHFSD:NM_001159380:exon8:c.C967T:p.R323C,MTHFSD:NM_022764:exon8:c.C1024T:p.R342C	.	420	1101	1	0	0	1	0.000453926	.	.	.	4029957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.0206077856256	.	0.000199681	0.0001	0.0002	0	0.0002	0	9.767e-05	0	0.0002	6.47e-05	10	154602	rs541512635	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	6.287e-05	0	0	5.267e-05	0	0.0002	0.0002	8.663e-05	2.553e-05	5.263e-05	5.25e-05	5.147e-05	5.384e-05	9.642e-05	2.56e-05	1.832e-05	3.247e-05	1.913e-05	9.642e-05	0	0	0	0	0	0	4.415e-05	0.0005	0	0.024	0.50676	D	0.023	0.63918	D	1.0	0.90584	D	0.91	0.64641	D	0.300540	0.14606	N	0.712428	0.998605	0.45151	D	2.015	0.55033	M	2.32	0.16640	T	-2.11	0.53736	N	0.187	0.20395	-1.0802	0.07310	T	0.079	0.31344	T	10	0.23935905	0.41075	T	0.020608	0.43239	T	0.238	0.54217	0.742	0.87401	0.425970041486	0.42213	0.48815677265121027	0.48735	0.021639631476	0.02150	0.298172831535	0.10130	T	0.003112	0.11410	T	-0.372223	0.03483	T	-0.50802	0.21519	T	0.0749772042036057	0.09332	T	0.906409	0.69449	D	0.1762072	0.38521	0.100481324	0.24026	0.1762072	0.38521	0.100481324	0.24025	-8.136	0.62459	D	.	.	0.106	0.23952	B	.;.;.;.;.	.;.;.;.;.	3.345358	0.46112	22.2	0.99761186535699609	0.85091	0.80562	0.40167	D	AEFDBCI	0.456183	0.50815	N	-0.0460984135594728	0.39776	2.351225	-0.199481227858091	0.31556	1.786959	0.019676165337437	0.13184	0.706298	0.61202	0	0.709663	0.81188	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	5.16	0.158	0.14233	2.347000	0.43692	0.456000	0.18569	0.654000	0.53741	1.000000	0.71638	0.000000	0.08366	0.049000	0.15107	0.0727:0.3648:0.5625:0.0	11.646	0.50523	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;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	756.43	36	chr16	86532136	.	G	A	756.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=396;ExcessHet=0;FS=5.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=1.13;SOR=0.635	GT:AD:DP:GQ:PL	0/1:21,29:50:99:768,0,544	9	0	1	0
chr16	88430955	88430955	G	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G3485T:p.R1162L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	326674	not_provided|Brittle_cornea_syndrome_1	MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.544802437983	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886052402	6.505e-06	8.893e-06	1.141e-05	1.465e-06	0.0002	3.06e-06	2.22e-06	3.86e-05	2.291e-05	0	0.0001	0	0	0	0.0002	3.714e-06	0	0	6.58e-06	6.568e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.266	0.16251	T	0.106	0.39340	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.34	0.06063	T	-0.52	0.19085	N	0.105	0.08925	-0.9395	0.42695	T	0.009	0.03140	T	9	0.10284427	0.18873	T	0.544802	0.95777	D	0.015	0.02232	0.26	0.20315	0.144782658237	0.14088	0.07198247784591716	0.07135	.	.	0.421528488398	0.28047	T	0.013868	0.11911	T	-0.498786	0.00581	T	-0.689819	0.06399	T	0.0179487501367705	0.00521	T	0.465053	0.13602	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.11027	B	.;.	.;.	0.145270	0.05383	1.864	0.47225072788069561	0.03844	0.61424	0.31480	D	ALL	0.124185	0.24013	N	-1.17896853982961	0.05318	0.2421723	-1.23337836697876	0.05382	0.2562837	0.999999986656008	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	2.59	-0.34	0.12016	0.066000	0.14358	0.023000	0.13619	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3158:0.221:0.4632:0.0	4.128	0.09605	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	482.43	45	chr16	88430955	.	G	T	482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=349;ExcessHet=0;FS=3.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.876;SOR=1.417	GT:AD:DP:GQ:PL	0/1:13,15:28:99:494,0,322	9	0	1	0
chr16	88433168	88433168	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C5698T:p.P1900S	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1487871	not_provided|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.269499843528	.	.	5.423e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs754730500	1.503e-05	1.437e-05	1.976e-05	1.015e-05	0.0002	9.66e-06	8.19e-06	8.78e-06	7.11e-06	0	0	0	0	0	0.0002	1.483e-05	5.175e-05	1.262e-05	1.972e-05	1.97e-05	3.855e-05	0	4.412e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.727	0.03846	T	0.794	0.04142	T	.	.	.	.	.	.	.	.	.	.	0.999981	0.18198	N	.	.	.	3.4	0.05642	T	0.92	0.01573	N	0.124	0.11626	-0.9784	0.35368	T	0.007	0.02558	T	9	0.057233155	0.06542	T	0.270	0.89824	D	0.053	0.14996	0.332	0.31843	0.384252928164	0.38032	0.16842369000211604	0.16762	.	.	0.372817367315	0.21235	T	0.005088	0.04527	T	-0.367516	0.03722	T	-0.750202	0.03478	T	0.0973240173832578	0.12059	T	0.374163	0.08891	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	0.336117	0.07097	3.672	0.34554967331392561	0.02120	0.20692	0.21134	N	AEFBI	0.082733	0.16754	N	-0.749236162808642	0.14655	0.7318121	-0.813273373484006	0.14174	0.7392639	0.240531948208539	0.18566	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.57	2.0	0.25495	1.157000	0.31335	0.307000	0.17042	0.549000	0.26987	0.091000	0.22601	0.015000	0.20450	0.011000	0.09372	0.193:0.6562:0.0:0.1508	4.648	0.11966	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1975.43	107	chr16	88433168	.	C	T	1975.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.904;DP=899;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.739;SOR=0.596	GT:AD:DP:GQ:PL	0/1:76,76:152:99:1987,0,1925	9	0	1	0
chr16	88715649	88715649	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon51:c.C7522T:p.R2508C	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.858179566126	.	.	0.0001	0	0	0	0	0.0001	0	0.0001	1.29e-05	2	154602	rs751834996	2.575e-05	2.463e-05	1.976e-05	3.191e-05	0.0002	1.885e-05	1.673e-05	1.676e-05	1.424e-05	0	2.801e-05	3.971e-05	5.597e-05	0	0.0002	2.41e-05	3.449e-05	3.786e-05	5.256e-05	5.253e-05	7.706e-05	2.69e-05	7.348e-05	2.557e-05	1.83e-05	2.846e-05	1.858e-05	4.825e-05	0	6.542e-05	0	0	0	0	7.348e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.195	0.89043	M	-3.77	0.95595	D	-7.56	0.95216	D	0.8	0.79599	1.095	0.99460	D	0.941	0.98068	D	10	0.94262326	0.93587	D	0.85818	0.98910	D	0.947	0.98955	0.729	0.86286	0.822142883595	0.82046	0.9573625499967734	0.95721	.	.	0.846412301064	0.89071	D	0.628911	0.88473	D	-0.239364	0.15430	T	-0.378007	0.35955	T	0.949338853359222	0.63091	D	0.978602	0.92442	D	0.87047106	0.88898	0.6957464	0.82086	0.87047106	0.88900	0.6957464	0.82087	-11.179	0.80631	D	0.8764397374674017	0.93555	0.921	0.84262	P	.	.	5.611210	0.92533	32	0.96483313885870658	0.29981	0.99369	0.95128	D	AEFDBHCI	0.939817	0.94091	D	0.939862899494117	0.93571	12.12844	0.853406675211474	0.93212	11.897	0.999999999821895	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.74	4.74	0.59717	9.851000	0.98382	11.833000	0.97585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	16.863	0.85889	895	0.25842	Piezo non-specific cation channel, R-Ras-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	815.43	36	chr16	88715649	.	G	A	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=405;ExcessHet=0;FS=4.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.459;SOR=1.182	GT:AD:DP:GQ:PL	0/1:52,35:87:99:827,0,1224	9	0	1	0
chr16	88737953	88737953	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon8:c.C1001T:p.A334V	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	428	1089	5	0	0	5	0.00229043	.	.	.	1300044	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.103	0.339522351967	.	.	0.0004	0	0	0	0	0.0003	0	0.0006	8.41e-05	13	154602	rs574402639	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0010	0.0007	3.172e-05	0.0004	8.066e-05	0	0	0.0018	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	4.809e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0.0002	0.365	0.11732	T	0.387	0.15650	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	-0.57	0.71307	T	-0.81	0.22294	N	0.083	0.05929	-1.0336	0.19300	T	0.108	0.39147	T	9	0.18677816	0.34158	T	0.339522	0.91976	D	0.103	0.29403	.	.	0.102598925029	0.09809	0.22471149889364886	0.22386	.	.	0.250103354454	0.03778	T	0.006927	0.06354	T	-0.513322	0.00481	T	-0.613218	0.11725	T	0.0210515226431	0.00806	T	0.239076	0.03406	T	0.025577618	0.01512	0.025855556	0.00646	0.025577618	0.01512	0.025855556	0.00646	-3.435	0.15532	T	0.09400642515438426	0.06244	0.076	0.06159	B	.	.	-0.176537	0.03212	0.534	0.81977007174965633	0.13956	0.06460	0.12468	N	AEFDGBCI	0.082275	0.16657	N	-2.13053493881582	0.00110	0.004691375	-2.19990471196293	0.00112	0.004926557	0.999999743809922	0.74766	0.741868	0.97996	0	0.577304	0.33150	0	0.774882	0.98623	0	0.691587	0.68394	0	.	.	5.12	-10.2	0.00305	-0.382000	0.07466	-0.329000	0.09904	-2.932000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0712:0.4455:0.2145:0.2688	5.893	0.18169	856	0.34373	.	.	.	.	.	.	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	0.002012	0.000000	0.009259	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	640.43	64	chr16	88737953	.	G	A	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=625;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.079;SOR=1.139	GT:AD:DP:GQ:PL	0/1:37,25:62:99:652,0,952	9	0	1	0
chr16	88807091	88807091	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon8:c.C1163T:p.A388V	Meier-Gorlin syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0303240306061	.	.	5.879e-05	0	0.0003	0	0	4.615e-05	0	6.061e-05	4.53e-05	7	154602	rs773673217	3.218e-05	3.215e-05	3.406e-05	3.028e-05	0.0002	2.48e-05	2.223e-05	0.0001	0.0001	0	0.0002	3.827e-05	0	0	0	2.698e-05	3.313e-05	3.478e-05	4.598e-05	4.596e-05	6.421e-05	2.689e-05	0.0001	2.108e-05	1.526e-05	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0	0	9.411e-05	0	4.409e-05	0	0	0.25	0.17126	T	0.294	0.20745	T	0.003	0.11197	B	0.0	0.01387	B	0.977319	0.08117	N	0.987802	1	0.08975	N	-0.69	0.01958	N	-1.06	0.76819	T	-0.54	0.16598	N	0.127	0.12055	-0.9062	0.47308	T	0.246	0.61448	T	10	0.03194508	0.01336	T	0.030324	0.52661	D	0.176	0.44373	0.124	0.03018	0.651524792116	0.64862	0.21984279097224962	0.21900	0.0127212984453	0.01221	0.247838973999	0.03543	T	0.047234	0.27661	T	-0.341043	0.05316	T	-0.442948	0.28480	T	0.0223733079304436	0.00951	T	0.268873	0.04498	T	0.021439336	0.00746	0.03440986	0.02503	0.021439336	0.00746	0.03440986	0.02502	-5.0	0.36840	T	0.0955676745177062	0.06518	0.074	0.05188	B	.	.	0.758550	0.11281	7.908	0.89734349950045711	0.19054	0.59364	0.30895	D	AEFDBHCI	0.152047	0.27665	N	-1.35324159892084	0.03091	0.1375537	-1.36852212592704	0.03592	0.167873	0.999999090971968	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.27	0.608	0.16746	0.355000	0.19902	1.691000	0.28071	-0.749000	0.03603	0.000000	0.06391	0.014000	0.20376	0.002000	0.04165	0.5987:0.1385:0.0:0.2629	6.749	0.22663	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	898.43	33	chr16	88807091	.	C	T	898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.842;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=2.56;SOR=0.798	GT:AD:DP:GQ:PL	0/1:26,38:64:99:910,0,513	9	0	1	0
chr16	88866449	88866449	T	C	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon3:c.A158G:p.E53G,PABPN1L:NM_001294328:exon3:c.A158G:p.E53G,PABPN1L:NM_001385709:exon3:c.A158G:p.E53G	.	384	1122	12	4	0	20	0.00883392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0038	0.00219649	0.0067	0.0013	0.0098	0	0.0098	0.0119	0.01	0.0025	0.0022121	342	154602	rs139390142	0.0061	0.0059	0.0060	0.0062	0.0075	0.0060	0.0059	0.0064	0.0063	0.0012	0.0041	0.0201	0	0.0039	0.0075	0.0065	0.0061	0.0027	0.0047	0.0047	0.0047	0.0047	0.0072	0.0044	0.0043	0.0067	0.0065	0.0012	0	0.0039	0.0199	0	0.0024	0.0034	0.0072	0.0057	0.0019	0.168	0.32453	T	0.263	0.53072	T	0.0	0.48338	B	0.0	0.47649	B	0.050477	0.02012	N	2.185190	1	0.08975	N	0.895	0.22405	L	2.42	0.15376	T	-1.36	0.39314	N	0.258	0.34012	-1.0321	0.19777	T	0.028	0.11838	T	10	0.0042315125	0.00085	T	.	.	.	0.024	0.04979	.	.	0.0297737177859	0.01360	0.11916401117513939	0.11843	0.010001271138	0.00916	0.31797170639	0.13114	T	0.007476	0.06883	T	-0.574456	0.00208	T	-0.592393	0.13459	T	0.00502433616778397	0.00054	T	0.285571	0.05569	T	0.052537575	0.09814	0.03787648	0.03534	0.052537575	0.09814	0.03787648	0.03533	-5.756	0.44189	T	.	.	0.067	0.08081	B	.;.;.	.;.;.	1.204239	0.15965	12.23	0.85078001534977676	0.15672	0.03793	0.09119	N	AEFDBI	0.059950	0.11360	N	-1.06023668610223	0.07388	0.3430581	-1.17229213194693	0.06376	0.3067193	0.00719631206753447	0.11407	0.57788	0.32782	0	0.593476	0.48661	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.52	-4.19	0.03573	0.359000	0.19970	0.046000	0.13935	0.339000	0.19733	0.007000	0.17678	0.000000	0.08366	0.011000	0.09372	0.1664:0.4546:0.0:0.379	4.338	0.10536	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010722	0.010309	0.004573	0.007463	0.222222	0.030612	0.013072	0.012500	0.05	1062.43	42	chr16	88866449	.	T	C	1062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.41;SOR=0.722	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1074,0,753	9	0	1	0
chr16	89282600	89282600	C	A	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.G3942T:p.E1314D,ANKRD11:NM_013275:exon9:c.G3942T:p.E1314D,ANKRD11:NM_001256182:exon10:c.G3942T:p.E1314D	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	937662	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00863231827294	.	.	8.249e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs767698081	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0002	1.265e-05	1.084e-05	6.246e-05	4.757e-05	0	4.472e-05	0	0	0	0.0002	1.079e-05	3.311e-05	0.0001	1.969e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.532e-05	0	0	0	0	1.47e-05	0	0.0002	0.78	0.03289	T	0.525	0.10281	T	0.001	0.07471	B	0.002	0.06944	B	0.060169	0.22268	N	0.473148	0.794679	0.29185	N	0.28	0.10031	N	1.36	0.34452	T	0.16	0.05217	N	0.082	0.05799	-1.0168	0.24755	T	0.028	0.11838	T	10	0.012351036	0.00266	T	0.008632	0.22804	T	0.029	0.06676	0.106	0.01810	0.176862962021	0.17281	0.002579631488770286	0.00239	0.0778072030269	0.08756	0.297510623932	0.10031	T	0.069671	0.33768	T	-0.521589	0.00431	T	-0.784349	0.02325	T	0.0221469744222066	0.00925	T	0.739826	0.35853	T	0.017786853	0.00303	0.033841945	0.02348	0.017786853	0.00302	0.033841945	0.02348	-3.225	0.12788	T	0.0804013330259886	0.04053	0.071	0.03849	B	.;.;.	.;.;.	-0.172659	0.03232	0.543	0.93224311905295432	0.22903	0.17664	0.19935	N	AEFDBHCI	0.073348	0.14667	N	-1.49962397501451	0.01853	0.08126657	-1.46863069369731	0.02606	0.1201218	0.990565564580985	0.32195	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.21	-5.26	0.02559	-2.250000	0.01269	-0.571000	0.08426	-2.063000	0.00412	0.000000	0.06391	0.003000	0.18671	0.016000	0.10718	0.0813:0.5885:0.2505:0.0797	11.041	0.47050	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2616.43	177	chr16	89282600	.	C	A	2616.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.586;DP=987;ExcessHet=0;FS=0.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.63;SOR=0.619	GT:AD:DP:GQ:PL	0/1:106,106:212:99:2628,0,2743	9	0	1	0
chr16	89815956	89815956	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon2:c.C110T:p.P37L,FANCA:NM_001018112:exon2:c.C110T:p.P37L,FANCA:NM_001286167:exon2:c.C110T:p.P37L,FANCA:NM_001351830:exon2:c.C110T:p.P37L	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0690200946418	.	.	8.246e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs754642453	2.052e-06	2.052e-06	0	4.125e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.994e-07	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.43393	T	0.175	0.69154	T	0.693	0.41684	P	0.248	0.38946	B	0.242212	0.15688	N	0.573404	0.999999	0.08975	N	1.955	0.52871	M	1.12	0.38718	T	-4.04	0.93475	D	0.207	0.24758	-1.0071	0.27819	T	0.106	0.38734	T	10	0.12012324	0.22746	T	0.06902	0.70614	D	0.103	0.29403	0.276	0.22845	0.533662478252	0.53015	0.031344347939177085	0.03083	.	.	0.411542087793	0.26670	T	0.37385	0.73777	T	-0.155409	0.27467	T	-0.461011	0.26488	T	0.340841442346573	0.26657	T	0.759324	0.38363	T	0.061518177	0.12748	0.13937199	0.33255	0.061518177	0.12747	0.13937199	0.33254	-2.714	0.08221	T	0.3560204864494066	0.45287	0.110	0.38747	B	.;.;.;.;.;.	.;.;.;.;.;.	1.682101	0.21437	15.20	0.85476564693953339	0.15917	0.04758	0.10464	N	AEFDBHCI	0.100721	0.20246	N	-0.62570224574899	0.18175	0.9414887	-0.6636260208936	0.17874	0.9523116	0.999999402718955	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.665054	0.64577	0	.	.	5.47	4.52	0.54797	1.293000	0.32959	4.677000	0.44304	0.673000	0.70640	0.003000	0.16062	0.981000	0.30433	0.367000	0.26044	0.0909:0.0:0.9091:0.0	10.316	0.42916	588	0.69043	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1477.43	34	chr16	89815956	.	G	A	1477.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.027;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.159;SOR=0.668	GT:AD:DP:GQ:PL	0/1:72,69:141:99:1489,0,1579	9	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1298.87	21	chr17	413815	.	C	*	1298.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.79;DP=367;ExcessHet=4.5998;FS=0.586;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=48.19;MQRankSum=-1.487;QD=7.69;ReadPosRankSum=-0.374;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,11:41:99:.:.:234,0,1021:.	7	0	3	0
chr17	413821	413825	CCCCG	0	exonic	C17orf97	.	.	.	.	468	989	60	4	1	69	0.0332356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	101.87	27	chr17	413821	.	CCCCG	*	101.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.75;DP=368;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.01;MQRankSum=-3.309;QD=0.8;ReadPosRankSum=0.705;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,11:41:99:.:.:234,0,1021:.	7	0	3	0
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1471.33	24	chr17	413822	.	C	*	1471.33	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.409;DP=372;ExcessHet=4.5998;FS=1.22;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=45.38;MQRankSum=1.5;QD=8.36;ReadPosRankSum=-0.803;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,11:41:99:.:.:234,0,1021:.	6	0	4	0
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1474.36	25	chr17	413824	.	C	*	1474.36	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.338;DP=372;ExcessHet=4.5998;FS=1.203;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=44.73;MQRankSum=1.75;QD=8.19;ReadPosRankSum=-0.836;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,11:41:99:.:.:234,0,1021:.	6	0	4	0
chr17	413826	413836	ACCCCAAGGCC	0	exonic	C17orf97	.	.	.	.	483	974	60	4	1	69	0.0337302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	89.87	25	chr17	413826	.	ACCCCAAGGCC	*	89.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.198;DP=374;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.43;MQRankSum=-3.639;QD=0.69;ReadPosRankSum=0.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,11:41:99:.:.:234,0,1021:.	7	0	3	0
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1428.57	27	chr17	413831	.	A	*	1428.57	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.855;DP=385;ExcessHet=5.3821;FS=0.556;InbreedingCoeff=-0.4815;MLEAC=4;MLEAF=0.222;MQ=45.68;MQRankSum=0.554;QD=7.64;ReadPosRankSum=-1.636;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,11:41:99:.:.:234,0,1021:.	5	0	4	1
chr17	413838	413854	TCAAGGGCTTCCACCCC	0	exonic	C17orf97	.	.	.	.	529	930	58	4	1	67	0.0342679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.87	38	chr17	413838	.	TCAAGGGCTTCCACCCC	*	71.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.84;DP=387;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.25;MQRankSum=-3.407;QD=0.52;ReadPosRankSum=0.427;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,11:41:99:.:.:234,0,1021:.	7	0	3	0
chr17	1649746	1649746	C	T	exonic	RILP	.	nonsynonymous SNV	RILP:NM_031430:exon1:c.G59A:p.G20E	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0267500157981	0.0007	0.000399361	0.0030	0.0009	0.0020	0	0.0050	0.0039	0.0053	0.0023	0.001533	237	154602	rs200942821	0.0023	0.0023	0.0022	0.0024	0.0051	0.0022	0.0022	0.0036	0.0031	0.0003	0.0014	0.0001	0	0.0034	0.0051	0.0025	0.0021	0.0020	0.0017	0.0017	0.0018	0.0016	0.0029	0.0016	0.0015	0.0026	0.0025	0.0003	0	0.0012	0	0.0002	0.0021	0	0.0029	0.0019	0.0012	0.13	0.26740	T	0.873	0.03286	T	0.115	0.26429	B	0.046	0.24676	B	0.095987	0.20097	N	0.474604	1	0.08975	N	1.75	0.45442	L	1.52	0.30669	T	-1.15	0.29525	N	0.178	0.19190	-1.0423	0.16621	T	0.043	0.18535	T	10	0.0074126422	0.00169	T	0.02675	0.49630	D	0.078	0.22779	.	.	0.418344901717	0.41449	0.27471084752371877	0.27384	0.973696937774	0.73468	0.77568846941	0.78278	T	0.001965	0.01375	T	-0.435148	0.01381	T	-0.401201	0.33243	T	0.0264772659402807	0.01470	T	.	.	.	0.059946362	0.12244	0.16074795	0.37425	0.059946362	0.12243	0.16074795	0.37424	-5.003	0.36872	T	.	.	0.179	0.38959	B	.	.	3.523493	0.49401	22.8	0.99408111539106003	0.63122	0.17999	0.20077	N	AEFGBHCIJ	0.187467	0.31476	N	-0.709590447180757	0.15752	0.7965744	-0.66076221653061	0.17945	0.956483	0.999999999936359	0.74766	0.437478	0.07067	0	0.159064	0.03852	3	0.606814	0.37721	0	0.249971	0.05119	0	.	.	4.71	2.64	0.30504	1.143000	0.31164	5.791000	0.49870	0.523000	0.23987	0.030000	0.20431	0.981000	0.30433	0.011000	0.09372	0.1218:0.6173:0.1774:0.0835	5.593	0.16591	571	0.70397	RH1 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	0.002047	0.000000	0.000000	0.006024	0.000000	0.008772	0.003165	0.000000	0.05	227.43	26	chr17	1649746	.	C	T	227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=239;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.123;SOR=0.859	GT:AD:DP:GQ:PL	0/1:9,10:19:99:239,0,212	9	0	1	0
chr17	2058827	2058827	C	T	exonic	HIC1	.	nonsynonymous SNV	HIC1:NM_001098202:exon2:c.C2194T:p.P732S,HIC1:NM_006497:exon2:c.C2137T:p.P713S	.	354	1167	1	0	0	1	0.000428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23341053685	.	.	0.0002	0	0	0	0	0.0005	0	0	1.29e-05	2	154602	rs780109649	0.0001	0.0001	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	3.69e-05	0	0	0	0	0.0005	0.0002	5.463e-05	2.885e-05	6.571e-05	6.567e-05	7.707e-05	5.381e-05	0.0002	3.517e-05	2.616e-05	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	7.351e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.915	0.65091	D	.	.	.	.	0.999942	0.51968	D	0.975	0.24501	L	2.38	0.17271	T	-3.16	0.64246	D	0.317	0.35727	-1.1090	0.03157	T	0.051	0.21806	T	9	0.24958584	0.42272	T	0.233411	0.88364	D	0.164	0.42212	0.239	0.17065	0.398133443147	0.39430	0.6123288270744487	0.61164	.	.	0.843891263008	0.88687	D	0.327529	0.69804	T	-0.258546	0.13070	T	-0.372492	0.36596	T	0.538022997926077	0.34031	D	0.735426	0.35200	T	0.2973237	0.52663	0.42238912	0.66141	0.2973237	0.52663	0.42238912	0.66141	-4.538	0.31382	T	.	.	0.329	0.65506	B	.;.;.	.;.;.	5.038265	0.83842	28.1	0.9987144856608936	0.94902	0.46189	0.27705	N	AEFDGBHCI	0.809473	0.73297	D	0.465499459006154	0.65087	4.778675	0.491953671415036	0.67454	5.086413	0.999999999999995	0.74766	0.460665	0.09802	0	0.52208	0.09955	0	0.606814	0.37721	0	0.636168	0.56350	0	.	.	4.56	4.56	0.55644	4.642000	0.61079	7.498000	0.59452	0.574000	0.29054	0.996000	0.39380	1.000000	0.68203	0.978000	0.57271	0.0:0.9112:0.0:0.0888	10.754	0.45427	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	.	.	.	.	.	.	.	.	0.05	304.43	23	chr17	2058827	.	C	T	304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.275;DP=192;ExcessHet=0;FS=0;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.755;SOR=0.446	GT:AD:DP:GQ:PL	0/1:6,11:17:99:316,0,187	9	0	1	0
chr17	2373007	2373007	G	A	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon15:c.G1708A:p.E570K,SGSM2:NM_001346700:exon15:c.G1708A:p.E570K,SGSM2:NM_014853:exon16:c.G1843A:p.E615K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0170720139371	.	.	2.332e-05	0	0	0	0	4.505e-05	0	0	6.5e-06	1	154602	rs773126868	1.107e-05	1.163e-05	1.236e-05	9.755e-06	0.0002	6.55e-06	5.3e-06	9.95e-06	3.72e-06	6.009e-05	0	0	2.557e-05	0	0.0002	5.435e-06	8.363e-05	1.196e-05	2.636e-05	2.628e-05	0	5.402e-05	7.264e-05	8.16e-06	5.15e-06	1.926e-05	1.034e-05	7.264e-05	0	0	0	0	0	0	1.471e-05	0	0	0.009	0.57480	D	0.026	0.56640	D	0.998	0.90584	D	0.865	0.76916	P	0.000000	0.84330	D	0.090236	1	0.81001	D	2.69	0.78713	M	3.6	0.04494	T	-2.57	0.55501	D	0.631	0.64478	-1.2127	0.00078	T	0.059	0.24723	T	10	0.5963858	0.66665	D	0.017072	0.38615	T	0.292	0.61157	.	.	0.584612320503	0.58134	0.41859605515497605	0.41775	0.33988817045	0.35937	0.722741127014	0.70446	T	0.172522	0.52104	T	0.152612	0.69513	D	-0.0185598	0.69123	D	0.696750223636627	0.40564	D	0.90461	0.69301	D	0.36366418	0.58114	0.37368938	0.62551	0.36366418	0.58114	0.37368938	0.62550	-10.146	0.74781	D	.	.	0.11	0.28578	B	.;.;.	.;.;.	5.001949	0.83007	27.9	0.99940192796158067	0.99767	0.97751	0.76869	D	AEFBI	0.780231	0.71219	D	0.776996634228435	0.84648	8.34689	0.769406952443557	0.87597	9.277856	0.999999999778827	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	6.434000	0.73332	9.917000	0.82473	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.0:0.0:1.0:0.0	19.044	0.92994	675	0.60470	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2345.43	35	chr17	2373007	.	G	A	2345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.811;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.326;SOR=0.667	GT:AD:DP:GQ:PL	0/1:83,99:182:99:2357,0,1773	9	0	1	0
chr17	3688639	3688639	C	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon7:c.G802A:p.G268R,P2RX5:NM_175080:exon7:c.G799A:p.G267R,P2RX5:NM_001204519:exon8:c.G871A:p.G291R,P2RX5:NM_002561:exon8:c.G874A:p.G292R	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	.	0.0068	0.00199681	0.0070	0.0014	0.0016	0.0002	0.0129	0.0094	0.0099	0.0054	0.0066299	1025	154602	rs151100959	0.0082	0.0082	0.0081	0.0083	0.0087	0.0081	0.0080	0.0085	0.0085	0.0014	0.0017	0.0178	0.0001	0.0139	0.0023	0.0087	0.0079	0.0061	0.0063	0.0063	0.0065	0.0061	0.0091	0.0059	0.0058	0.0085	0.0082	0.0013	0.0252	0.0020	0.0164	0.0004	0.0137	0	0.0091	0.0033	0.0039	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.225	0.89467	M	2.88	0.10291	T	-7.41	0.95542	D	0.947	0.96302	0.310	0.87714	D	0.516	0.81883	D	10	0.017871082	0.00384	T	.	.	.	0.554	0.81601	0.856	0.95547	0.423836183345	0.42003	0.8317112110514865	0.83130	0.665262974677	0.59129	0.60632443428	0.53797	T	0.209868	0.57020	T	-0.0762595	0.40320	T	0.12807	0.78766	D	0.0732120158913289	0.09095	T	0.965003	0.96783	D	0.7305133	0.79753	0.6805191	0.81228	0.7305133	0.79754	0.6805191	0.81229	-11.97	0.85464	D	.	.	0.892	0.84607	P	.;.;.;.;.;.	.;.;.;.;.;.	6.792884	0.95742	35	0.99918103689360338	0.98586	0.98622	0.84808	D	AEFDBCI	0.952179	0.96741	D	0.549302741688913	0.70042	5.443436	0.53223490879597	0.70172	5.466149	0.999999994629643	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.620976	0.48614	0	.	.	5.18	5.18	0.71140	7.525000	0.80805	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	0.0:1.0:0.0:0.0	18.062	0.89306	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	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	0.001359	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	576.43	35	chr17	3688639	.	C	T	576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=334;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-2.287;SOR=0.877	GT:AD:DP:GQ:PL	0/1:18,23:41:99:588,0,402	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2999.71	129	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	2999.71	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-2.686;DP=1317;ExcessHet=0.0952;FS=1.935;InbreedingCoeff=0.3407;MLEAC=12;MLEAF=0.6;MQ=59.44;MQRankSum=0.207;QD=3.86;ReadPosRankSum=-0.518;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,87:89:99:1|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:2589,247,0:4933876	3	5	2	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,87:89:99:1|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3166,269,0:4933876	1	5	3	1
chr17	7934468	7934468	A	G	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.A359G:p.D120G,CNTROB:NM_001330124:exon3:c.A359G:p.D120G,CNTROB:NM_001353202:exon3:c.A359G:p.D120G,CNTROB:NM_001353205:exon3:c.A92G:p.D31G,CNTROB:NM_053051:exon3:c.A359G:p.D120G,CNTROB:NM_001353203:exon4:c.A359G:p.D120G,CNTROB:NM_001353206:exon4:c.A359G:p.D120G,CNTROB:NM_001353207:exon4:c.A359G:p.D120G,CNTROB:NM_001353208:exon4:c.A359G:p.D120G,CNTROB:NM_001353209:exon4:c.A359G:p.D120G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00523948576971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.07e-06	0.0001	1.374e-06	2.772e-06	2.237e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.237e-05	0	0	0	0	1.818e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.65728	D	0.288	0.32258	B	0.168	0.35187	B	0.021393	0.26843	N	0.301427	0.984455	0.24799	N	1.795	0.47270	L	0.85	0.49358	T	-2.99	0.62630	D	0.272	0.32812	-1.0241	0.22377	T	0.111	0.39770	T	10	0.15230682	0.28772	T	0.005239	0.13371	T	0.044	0.11924	0.309	0.28128	0.451786746415	0.44804	0.381869656442711	0.38101	0.406878868609	0.41558	0.385712146759	0.23063	T	0.144684	0.48144	T	-0.089869	0.38098	T	-0.366867	0.37255	T	0.82710725069046	0.48307	D	0.775922	0.40781	T	0.09874078	0.23293	0.17352399	0.39684	0.09874078	0.23293	0.17352399	0.39683	-2.745	0.07759	T	.	.	0.114	0.22573	B	.;.;.;.;.	.;.;.;.;.	2.237501	0.28571	17.84	0.99668712484583399	0.78458	0.14736	0.18559	N	AEFDBI	0.091790	0.18588	N	-0.600480469983537	0.18930	0.9867874	-0.583204768381323	0.19931	1.071572	0.999976743798361	0.50053	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.07	2.49	0.29274	0.522000	0.22617	3.854000	0.40103	0.756000	0.94297	0.297000	0.25297	0.995000	0.32472	0.658000	0.32913	0.6095:0.2398:0.0:0.1507	6.043	0.18970	693	0.58582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	214.14	34	chr17	7934468	.	A	G	214.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.252;DP=458;ExcessHet=0.2348;FS=56.562;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=1.14;SOR=6.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,8:66:56:0|1:7934468_A_G:56,0,2303:7934468	8	0	2	0
chr17	7934470	7934470	C	T	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.C361T:p.P121S,CNTROB:NM_001330124:exon3:c.C361T:p.P121S,CNTROB:NM_001353202:exon3:c.C361T:p.P121S,CNTROB:NM_001353205:exon3:c.C94T:p.P32S,CNTROB:NM_053051:exon3:c.C361T:p.P121S,CNTROB:NM_001353203:exon4:c.C361T:p.P121S,CNTROB:NM_001353206:exon4:c.C361T:p.P121S,CNTROB:NM_001353207:exon4:c.C361T:p.P121S,CNTROB:NM_001353208:exon4:c.C361T:p.P121S,CNTROB:NM_001353209:exon4:c.C361T:p.P121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00399080164731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.518	0.18018	T	0.0	0.02946	B	0.003	0.08700	B	0.387036	0.13308	N	0.660748	1	0.08975	N	0.55	0.14455	N	1.46	0.32722	T	-0.77	0.22294	N	0.132	0.12770	-1.0174	0.24560	T	0.036	0.15465	T	10	0.041531652	0.02816	T	0.003991	0.09462	T	0.073	0.21317	0.308	0.27967	0.16115917748	0.15686	0.2522329388106393	0.25137	0.226757036249	0.25220	0.26304256916	0.05258	T	0.007547	0.09450	T	-0.241225	0.15192	T	-0.58428	0.14166	T	0.0219995063794558	0.00909	T	0.651035	0.26183	T	0.02489815	0.01368	0.028258974	0.01046	0.02489815	0.01367	0.028258974	0.01046	-3.353	0.14695	T	.	.	0.064	0.02399	B	.;.;.;.;.	.;.;.;.;.	0.697913	0.10668	7.364	0.88637082526403799	0.18134	0.01619	0.05233	N	AEFDBI	0.046597	0.07756	N	-1.17232079480329	0.05422	0.2471509	-1.16897397632264	0.06434	0.3096923	0.999984060705785	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.07	-3.22	0.04808	-0.365000	0.07626	0.107000	0.14728	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1351:0.2271:0.3622:0.2757	1.656	0.02615	693	0.58582	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	206.14	34	chr17	7934470	.	C	T	206.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.136;DP=437;ExcessHet=0.2348;FS=57.042;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.88;SOR=6.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,8:67:53:0|1:7934468_A_G:53,0,2310:7934468	8	0	2	0
chr17	7934471	7934471	C	G	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.C362G:p.P121R,CNTROB:NM_001330124:exon3:c.C362G:p.P121R,CNTROB:NM_001353202:exon3:c.C362G:p.P121R,CNTROB:NM_001353205:exon3:c.C95G:p.P32R,CNTROB:NM_053051:exon3:c.C362G:p.P121R,CNTROB:NM_001353203:exon4:c.C362G:p.P121R,CNTROB:NM_001353206:exon4:c.C362G:p.P121R,CNTROB:NM_001353207:exon4:c.C362G:p.P121R,CNTROB:NM_001353208:exon4:c.C362G:p.P121R,CNTROB:NM_001353209:exon4:c.C362G:p.P121R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00859113575964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.337e-05	0.0006	2.19e-05	2.486e-05	2.985e-05	1.682e-05	1.485e-05	2.129e-05	1.873e-05	0	0	0	0	0	0	2.985e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.17	0.40267	T	0.372	0.34134	B	0.16	0.34752	B	0.387036	0.13308	N	0.660748	1	0.08975	N	1.445	0.36358	L	1.39	0.34253	T	-1.52	0.37955	N	0.231	0.25989	-1.0510	0.14119	T	0.072	0.29323	T	10	0.07780191	0.12323	T	0.008591	0.22705	T	0.033	0.08068	0.325	0.30711	0.344710718752	0.34073	0.25439590010965324	0.25353	0.417156267166	0.42343	0.296725541353	0.09915	T	0.016269	0.16841	T	-0.149373	0.28408	T	-0.452341	0.27439	T	0.226929381489754	0.21804	T	0.714629	0.32694	T	0.051589303	0.09496	0.055391233	0.09708	0.051589303	0.09495	0.055391233	0.09707	-3.818	0.21253	T	.	.	0.109	0.20819	B	.;.;.;.;.	.;.;.;.;.	1.291841	0.16929	12.85	0.99442245784784034	0.64820	0.08192	0.14152	N	AEFDBI	0.101822	0.20440	N	-0.638349544729057	0.17800	0.9190736	-0.62519937654421	0.18847	1.008602	0.999982481297226	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.16	3.04	0.34171	0.635000	0.24318	1.081000	0.23892	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.597000	0.31313	0.1649:0.7466:0.0:0.0885	8.208	0.30627	693	0.58582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	199.14	80	chr17	7934471	.	C	G	199.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.992;DP=484;ExcessHet=0.2348;FS=54.053;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=2.08;SOR=6.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,8:67:53:0|1:7934468_A_G:53,0,2310:7934468	8	0	2	0
chr17	7935089	7935089	C	A	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon4:c.C538A:p.P180T,CNTROB:NM_001330124:exon4:c.C538A:p.P180T,CNTROB:NM_001353202:exon4:c.C538A:p.P180T,CNTROB:NM_001353205:exon4:c.C271A:p.P91T,CNTROB:NM_053051:exon4:c.C538A:p.P180T,CNTROB:NM_001353203:exon5:c.C538A:p.P180T,CNTROB:NM_001353206:exon5:c.C538A:p.P180T,CNTROB:NM_001353207:exon5:c.C538A:p.P180T,CNTROB:NM_001353208:exon5:c.C538A:p.P180T,CNTROB:NM_001353209:exon5:c.C538A:p.P180T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0060701975517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.327	0.38016	T	1.0	0.90584	D	0.998	0.88582	D	0.005416	0.32823	N	0.209073	1	0.08975	N	1.795	0.47270	L	1.48	0.32238	T	-0.84	0.23156	N	0.435	0.47395	-1.0116	0.26416	T	0.133	0.44524	T	10	0.17097375	0.31791	T	0.00607	0.15875	T	0.062	0.17934	0.302	0.27003	0.427829143865	0.42401	0.5102759321454862	0.50949	0.522034703024	0.49950	0.540040135384	0.44451	T	0.024337	0.18409	T	-0.138659	0.30104	T	-0.436951	0.29149	T	0.672946751117706	0.39469	D	0.813219	0.46599	T	0.077051595	0.17464	0.06602072	0.13465	0.077051595	0.17463	0.06602072	0.13465	-4.348	0.28844	T	.	.	0.085	0.10159	B	.;.;.;.;.	.;.;.;.;.	3.104484	0.41856	21.4	0.99690035924732112	0.79842	0.13684	0.17994	N	AEFBI	0.129166	0.24723	N	0.131782734422001	0.47950	3.01369	0.136414872211035	0.46425	2.888798	0.999977552300402	0.50053	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.45	4.28	0.50183	2.152000	0.41897	3.277000	0.37202	0.599000	0.40250	0.021000	0.19753	0.981000	0.30433	0.959000	0.51448	0.0:0.9029:0.0:0.097	12.074	0.52930	698	0.58074	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1465.43	33	chr17	7935089	.	C	A	1465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.132;DP=462;ExcessHet=0;FS=2.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-1.728;SOR=0.755	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1477,0,2038	9	0	1	0
chr17	8235853	8235853	A	G	exonic	CTC1	.	nonsynonymous SNV	CTC1:NM_025099:exon7:c.T1184C:p.M395T	Cerebroretinal microangiopathy with calcifications and cysts, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	846634	Dyskeratosis_congenita	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.365	0.0476520501272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1417486388	6.846e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	3.829e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.029	0.54541	D	0.031	0.20130	B	0.016	0.17743	B	0.407305	0.13044	N	0.713476	0.999718	0.20609	N	1.61	0.41143	L	-1.69	0.82985	D	-3.02	0.62630	D	0.5	0.53269	-0.6188	0.64038	T	0.356	0.71912	T	10	0.40931445	0.56114	T	0.047652	0.63020	D	0.365	0.68495	0.387	0.40788	0.479286488449	0.47557	0.6632067814743121	0.66257	0.160219008645	0.18072	0.417864620686	0.27544	T	0.621046	0.88122	D	0.0566331	0.59190	T	-0.156427	0.58671	T	0.245545014933904	0.22672	T	0.643236	0.25495	T	0.44489202	0.63716	0.2564902	0.51349	0.44489202	0.63717	0.2564902	0.51349	-5.694	0.43640	T	.	.	.	.	.	.	.	3.011652	0.40274	21.1	0.95491330722889711	0.27068	0.92914	0.56858	D	AEFBI	0.358132	0.44892	N	-0.206314199471377	0.32874	1.858838	-0.069454486435384	0.36660	2.136315	0.980153280904849	0.30104	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.67	4.67	0.58089	5.384000	0.65976	9.273000	0.79652	0.688000	0.82842	0.996000	0.39380	1.000000	0.68203	0.158000	0.20581	1.0:0.0:0.0:0.0	10.667	0.44931	456	0.79013	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	936.43	33	chr17	8235853	.	A	G	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.587;DP=397;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.154;SOR=0.576	GT:AD:DP:GQ:PL	0/1:47,43:90:99:948,0,1204	9	0	1	0
chr17	9645841	9645841	C	T	exonic	USP43	.	nonsynonymous SNV	USP43:NM_001267576:exon1:c.C209T:p.A70V,USP43:NM_153210:exon1:c.C209T:p.A70V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0673254793348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181736655	1.6e-06	4.241e-05	0	3.286e-06	.	2.7e-07	1e-07	.	.	0	0	0	0	2.346e-05	0	0	1.955e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.155	0.32040	T	0.056	0.22806	B	0.016	0.17743	B	0.899175	0.07344	U	1.057340	1	0.08975	N	1.04	0.26193	L	2.7	0.12162	T	-0.33	0.12472	N	0.048	0.01999	-0.9438	0.42009	T	0.018	0.07282	T	10	0.07663232	0.11996	T	0.067325	0.70132	D	0.013	0.01715	0.328	0.31196	0.27479166964	0.27093	0.17331086488073058	0.17251	0.913928028628	0.71167	0.76846164465	0.77195	T	0.014954	0.12634	T	-0.305317	0.08167	T	-0.676343	0.07208	T	0.080640934572888	0.10069	T	0.427357	0.11519	T	0.027148085	0.01866	0.042653605	0.05131	0.027148085	0.01866	0.042653605	0.05131	-5.152	0.38533	T	.	.	0.085	0.11845	B	.;.	.;.	1.306285	0.17090	12.95	0.99153343225723745	0.53875	0.04835	0.10564	N	AEFDGBCI	0.069830	0.13840	N	-1.35423480653956	0.03081	0.1370844	-1.39869151300764	0.03266	0.1520079	0.999998271387314	0.74766	0.495885	0.18260	0	0.475579	0.06741	0	0.231153	0.04653	2	0.554799	0.18163	0	.	.	4.5	-4.29	0.03465	-0.095000	0.11043	0.165000	0.15451	-0.391000	0.05343	0.000000	0.06391	0.001000	0.17328	0.546000	0.30079	0.3534:0.2731:0.3734:0.0	8.946	0.34919	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	.	.	.	.	.	.	.	.	0.05	632.43	36	chr17	9645841	.	C	T	632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.561;DP=322;ExcessHet=0;FS=5.301;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-1.77;SOR=0.206	GT:AD:DP:GQ:PL	0/1:11,25:36:99:644,0,228	9	0	1	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C,DNAH9:NM_001372:exon66:c.G12640T:p.G4214C	.	419	1079	23	1	0	25	0.0114521	.	.	.	1587214	Ciliary_dyskinesia,_primary,_40|DNAH9-related_disorder|not_provided	MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;Dynein heavy chain domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1224.43	40	chr17	11937502	.	G	T	1224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.234;DP=470;ExcessHet=0;FS=3.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.189;SOR=0.401	GT:AD:DP:GQ:PL	0/1:65,51:116:99:1236,0,1710	9	0	1	0
chr17	32772812	32772812	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A595G:p.R199G,MYO1D:NM_001303280:exon5:c.A595G:p.R199G,MYO1D:NM_015194:exon5:c.A595G:p.R199G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.877	0.440725010837	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208512359	6.844e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.986	0.61523	D	0.883	0.62698	P	0.001473	0.38917	U	0.000000	0.999946	0.51968	D	3.86	0.95841	H	-3.35	0.94022	D	-6.71	0.92518	D	0.971	0.98750	0.946	0.96331	D	0.923	0.97449	D	10	0.9905145	0.99555	D	0.440725	0.94160	D	0.877	0.96354	0.952	0.99447	0.90932008115	0.90841	0.9313293182321638	0.93111	1.08031386052	0.77120	0.704014003277	0.67724	T	0.855793	0.96757	D	0.426531	0.91353	D	0.47176	0.94049	D	0.996968924999237	0.90465	D	0.988801	0.96179	D	0.8308182	0.85959	0.7899371	0.87642	0.8308182	0.85960	0.7899371	0.87643	-13.871	0.92631	D	.	.	0.939	0.89791	P	.;.;.;.	.;.;.;.	4.162975	0.62537	24.5	0.99859517789585672	0.93820	0.88549	0.48528	D	ALL	0.461771	0.51140	N	0.632332884274489	0.75231	6.269389	0.486951710543846	0.67126	5.042281	0.998879535089024	0.37868	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	3.15	0.35301	1.888000	0.39342	2.625000	0.33658	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.3242:0.6758	10.528	0.44148	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	43.43	33	chr17	32772812	.	T	C	43.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.651;DP=389;ExcessHet=0;FS=33.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=1.79;SOR=4.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,11:66:55:0|1:32772809_T_C:55,0,1940:32772809	9	0	1	0
chr17	35352996	35352996	C	G	exonic	SLFN11	.	nonsynonymous SNV	SLFN11:NM_152270:exon5:c.G2066C:p.R689P,SLFN11:NM_001104589:exon6:c.G2066C:p.R689P,SLFN11:NM_001376009:exon6:c.G2066C:p.R689P,SLFN11:NM_001376012:exon6:c.G2066C:p.R689P,SLFN11:NM_001104587:exon7:c.G2066C:p.R689P,SLFN11:NM_001104588:exon7:c.G2066C:p.R689P,SLFN11:NM_001104590:exon7:c.G2066C:p.R689P,SLFN11:NM_001376007:exon7:c.G2066C:p.R689P,SLFN11:NM_001376008:exon7:c.G2066C:p.R689P,SLFN11:NM_001376010:exon7:c.G2066C:p.R689P,SLFN11:NM_001376011:exon7:c.G2066C:p.R689P	.	424	1096	2	0	0	2	0.000911577	.	.	.	2303107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.055809062045	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs143096498	2.736e-06	2.736e-06	2.722e-06	2.75e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.037	0.51737	D	0.675	0.41275	P	0.233	0.38358	B	0.942034	0.08347	N	0.966630	1	0.08975	N	-0.095	0.04716	N	-2.15	0.86481	D	-0.97	0.25770	N	0.201	0.22228	-0.5384	0.67224	T	0.469	0.79556	T	10	0.09967837	0.18103	T	0.055809	0.66374	D	0.404	0.71714	0.405	0.43738	0.513958542087	0.51037	0.5450183379226223	0.54427	0.120465229798	0.13563	0.190756946802	0.00238	T	0.009903	0.08988	T	-0.00688759	0.50700	T	-0.24767	0.50046	T	0.263825403331929	0.23481	T	0.789521	0.42989	T	0.18247907	0.39469	0.11366887	0.27435	0.18247907	0.39469	0.11366887	0.27434	-8.844	0.66687	D	.	.	0.471	0.63239	A	.;.	.;.	1.762716	0.22423	15.61	0.94171017040918858	0.24384	0.01932	0.05890	N	AEFDGBI	0.083861	0.16991	N	-0.744785422412778	0.14776	0.7389001	-0.864993466354575	0.12927	0.6678356	0.00375994237891337	0.10266	0.706548	0.73137	0	0.659912	0.62753	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.0	1.48	0.21900	0.066000	0.14358	-0.356000	0.09709	-0.167000	0.11441	0.001000	0.13787	0.000000	0.08366	0.059000	0.15899	0.0:0.2286:0.0:0.7714	5.92	0.18314	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	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1884.43	33	chr17	35352996	.	C	G	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.635;DP=513;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.763;SOR=0.749	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1896,0,2077	9	0	1	0
chr17	36169108	36169108	G	T	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon9:c.C734A:p.T245K,TBC1D3B:NM_001001417:exon10:c.C734A:p.T245K,TBC1D3H:NM_001123392:exon10:c.C734A:p.T245K,TBC1D3L:NM_001291459:exon10:c.C734A:p.T245K,TBC1D3G:NM_001291462:exon10:c.C734A:p.T245K,TBC1D3I:NM_001291463:exon10:c.C734A:p.T245K,TBC1D3D:NM_001291465:exon10:c.C734A:p.T245K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00223829122394	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341441750	5.156e-05	0.0002	6.02e-05	4.283e-05	0.0015	4.212e-05	3.842e-05	0.0012	0.0011	0.0015	0.0003	0	0	0	0	1.806e-06	0.0001	0	0.0008	0.0019	0.0009	0.0007	0.0027	0.0007	0.0006	0.0023	0.0022	0.0027	0	0.0003	0	0	0	0	1.487e-05	0.0005	0	.	.	.	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.014565	0.28493	N	0.340991	1	0.08975	N	-0.295	0.03650	N	.	.	.	.	.	.	0.145	0.14622	-0.9569	0.39753	T	0.016	0.06616	T	8	0.039797902	0.02498	T	0.002238	0.04260	T	.	.	0.539	0.65018	0.043077524339	0.03247	0.07317375495320011	0.07254	.	.	0.532513141632	0.43388	T	0.004255	0.03660	T	-0.252567	0.13785	T	-0.600571	0.12763	T	0.0706595534918102	0.08744	T	0.422958	0.11265	T	0.07351493	0.16433	0.1230181	0.29668	0.07351493	0.16432	0.1230181	0.29667	-4.972	0.36534	T	.	.	0.119	0.24566	B	.	.	-0.806663	0.01094	0.049	0.14520117050848078	0.00323	0.00184	0.01074	N	AEFI	0.038277	0.05394	N	-1.5973938919797	0.01277	0.05560161	-1.61916961468425	0.01543	0.06990709	1.10996031817414E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.139000	0.10338	-3.988000	0.02409	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	882	0.29131	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	.	.	.	.	.	.	.	.	0.05	334.43	52	chr17	36169108	.	G	T	334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=542;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.94;MQRankSum=0.196;QD=1.61;ReadPosRankSum=-3.036;SOR=0.661	GT:AD:DP:GQ:PL	0/1:175,33:208:99:346,0,4140	9	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	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:31,41:72:99:594,0,239	0	0	10	0
chr17	38469152	38469152	A	G	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon8:c.A1657G:p.T553A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0123851668235	0.0009	0.00259585	0.0005	0.0046	0	0	0	0	0	0	0.000207	32	154602	rs189596069	0.0002	0.0002	0.0002	0.0001	0.0058	0.0001	0.0001	0.0051	0.0048	0.0058	0.0004	0	0	0	0.0009	2.783e-06	0.0005	0	0.0017	0.0017	0.0020	0.0015	0.0049	0.0016	0.0015	0.0044	0.0042	0.0049	0.0518	0.0007	0	0	0	0	1.471e-05	0.0014	0	.	.	.	0.114	0.37730	T	0.402	0.56408	B	0.235	0.52082	B	0.000000	0.84330	D	0.000000	0.866338	0.28277	N	1.745	0.45235	L	.	.	.	.	.	.	0.406	0.44666	-0.9314	0.43933	T	0.122	0.42378	T	10	0.0069832206	0.00159	T	0.012385	0.30901	T	.	.	.	.	0.456647468687	0.45291	0.5064968435549617	0.50571	.	.	0.643194198608	0.59019	T	0.014354	0.12236	T	-0.381936	0.03030	T	-0.320586	0.42509	T	0.0848501186408163	0.10596	T	.	.	.	0.3752084	0.58967	0.297	0.55753	0.3752084	0.58967	0.297	0.55752	-6.35	0.51000	T	.	.	0.172	0.40229	B	.;.	.;.	4.092258	0.60950	24.3	0.98017305303329516	0.37605	0.98382	0.82208	D	AEFBI	0.649774	0.62412	D	0.145383799155967	0.48592	3.069726	0.163976985687948	0.47887	3.012293	0.999963287843706	0.48965	0.722319	0.85440	0	0.588066	0.40923	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	3.99	2.87	0.32523	6.917000	0.75604	11.212000	0.89433	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8207:0.1793:0.0:0.0	9.458	0.37931	117	0.95266	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1466.43	33	chr17	38469152	.	A	G	1466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.845;DP=477;ExcessHet=0;FS=2.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.992;SOR=0.888	GT:AD:DP:GQ:PL	0/1:84,71:155:99:1478,0,2034	9	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	.	.	.	.	.	.	.	.	0.15	94.43	34	chr17	38479767	.	C	T	94.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.606;DP=430;ExcessHet=0.7463;FS=0.774;InbreedingCoeff=-0.1759;MLEAC=3;MLEAF=0.15;MQ=49.15;MQRankSum=-2.443;QD=0.63;ReadPosRankSum=-1.268;SOR=0.781	GT:AD:DP:GQ:PL	0/1:43,8:51:45:45,0,1170	7	0	3	0
chr17	40016804	40016804	C	A	exonic	CSF3	.	nonsynonymous SNV	CSF3:NM_001178147:exon4:c.C352A:p.L118M,CSF3:NM_172220:exon4:c.C361A:p.L121M,CSF3:NM_000759:exon5:c.C469A:p.L157M,CSF3:NM_172219:exon5:c.C460A:p.L154M	.	.	.	.	.	.	.	.	.	.	.	727142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0098	0.00798722	0.0025	0.0279	0.0007	0	0	0	0.0011	0	0.0023415	362	154602	rs2227329	0.0009	0.0009	0.0010	0.0007	0.0330	0.0009	0.0008	0.0313	0.0307	0.0330	0.0011	0	0	0	0.0006	1.169e-05	0.0022	6.961e-05	0.0091	0.0091	0.0094	0.0087	0.0316	0.0087	0.0085	0.0302	0.0296	0.0316	0	0.0027	0	0	0	0	0.0001	0.0080	0	0.055	0.38863	T	0.0	0.92824	D	0.073	0.24078	B	0.163	0.34892	B	0.026356	0.25934	N	0.399663	0.900292	0.27713	N	1.485	0.37223	L	2.02	0.21119	T	-0.8	0.26843	N	0.162	0.24010	-1.1157	0.02622	T	0.011	0.04088	T	10	0.0034287274	0.00060	T	.	.	.	0.043	0.11576	.	.	0.619908932184	0.61682	0.14178106242043612	0.14101	0.596275416256	0.54875	0.348687827587	0.17729	T	0.380781	0.74325	T	-0.626054	0.00101	T	-0.646992	0.09166	T	0.0238574989743168	0.01126	T	0.582242	0.21111	T	0.306149	0.53450	0.22339682	0.47216	0.306149	0.53450	0.22339682	0.47215	-5.009	0.36959	T	.	.	0.110	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.307790	0.17102	12.96	0.98530204870228855	0.42582	0.30482	0.24093	N	AEFDBHI	0.142439	0.26488	N	-0.269985044914432	0.30312	1.689049	-0.252643903601493	0.29680	1.664822	0.999990217703408	0.74766	0.538715	0.22204	0	0.514364	0.08380	0	0.576033	0.28219	0	0.563494	0.21769	0	.	.	5.29	3.27	0.36580	0.132000	0.15716	-0.090000	0.12069	0.599000	0.40250	0.112000	0.23030	0.000000	0.08366	0.413000	0.27073	0.1577:0.6908:0.1516:0.0	9.828	0.40093	173	0.93306	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	489.43	34	chr17	40016804	.	C	A	489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.044;DP=335;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-0.699;SOR=0.439	GT:AD:DP:GQ:PL	0/1:12,18:30:99:501,0,318	9	0	1	0
chr17	40699553	40699553	A	G	exonic	KRT24	.	nonsynonymous SNV	KRT24:NM_019016:exon6:c.T1252C:p.W418R	.	418	1094	10	0	0	10	0.00454959	.	.	.	727155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.164	.	0.0091	0.00898562	0.0028	0.0273	0.0026	0	0	0.0004	0.0022	0.0001	0.0027296	422	154602	rs12946793	0.0012	0.0012	0.0013	0.0011	0.0334	0.0012	0.0011	0.0318	0.0311	0.0334	0.0031	0.0003	0	1.872e-05	0.0087	0.0002	0.0030	0.0001	0.0082	0.0082	0.0089	0.0075	0.0272	0.0078	0.0077	0.0259	0.0254	0.0272	0	0.0043	0.0003	0	0	0.0102	0.0005	0.0066	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999664	0.20745	N	-3.99	0.00000	N	-1.93	0.84842	D	6.93	0.00004	N	0.195	0.21449	-0.9024	0.47739	T	0.030	0.12892	T	9	0.0017380416	0.00022	T	.	.	.	0.164	0.42212	0.181	0.08877	0.132336055621	0.12781	0.4804221334345486	0.47962	0.111132996627	0.12538	0.315614581108	0.12756	T	0.097879	0.40115	T	-0.537873	0.00345	T	-0.523764	0.19914	T	0.00414675097483597	0.00044	T	0.117088	0.00899	T	0.066874	0.14429	0.088373005	0.20601	0.066874	0.14429	0.088373005	0.20600	6.925	0.00000	T	.	.	0.060	0.00995	B	.	.	0.456606	0.08265	5.008	0.53006960591460439	0.04856	0.09217	0.15017	N	AEFDBHCI	0.054180	0.09827	N	-1.48263275615263	0.01972	0.08661578	-1.24140405579668	0.05259	0.2501718	0.982890725190149	0.30472	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	2.16	0.26663	-0.696000	0.05205	2.427000	0.32714	-0.161000	0.11593	0.000000	0.06391	0.991000	0.31484	0.402000	0.26827	0.141:0.0:0.5628:0.2962	8.554	0.32630	88	0.96322	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.020202	0.025815	0.017544	0.000000	0.008621	0.006098	0.003788	0.05	2023.43	35	chr17	40699553	.	A	G	2023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.366;DP=529;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.268;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,55:139:99:0|1:40699553_A_G:2035,0,3319:40699553	9	0	1	0
chr17	40699561	40699561	C	T	exonic	KRT24	.	nonsynonymous SNV	KRT24:NM_019016:exon6:c.G1244A:p.C415Y	.	.	.	.	.	.	.	.	.	.	.	727156	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.272	.	0.0088	0.0081869	0.0025	0.0269	0.0012	0	0	5.994e-05	0.0011	0	0.0023221	359	154602	rs12945784	0.0009	0.0009	0.0010	0.0008	0.0326	0.0009	0.0009	0.0310	0.0303	0.0326	0.0017	0	0	0	0.0028	2.878e-05	0.0022	2.319e-05	0.0078	0.0079	0.0085	0.0071	0.0270	0.0075	0.0073	0.0257	0.0252	0.0270	0	0.0033	0	0	0	0.0034	0.0002	0.0043	0	1.0	0.00964	T	0.341	0.17964	T	0.512	0.37351	P	0.171	0.35348	B	.	.	.	.	0.972341	0.25606	N	1.445	0.36358	L	-2.38	0.88298	D	-2.9	0.60827	D	0.319	0.35938	-0.6811	0.61321	T	0.214	0.57534	T	9	0.005050212	0.00109	T	.	.	.	0.272	0.58758	.	.	0.33340067248	0.32956	0.30320563792761024	0.30233	0.491576977774	0.47843	0.383925557137	0.22812	T	0.175912	0.52567	T	-0.412588	0.01911	T	-0.343801	0.39914	T	0.0292814702741635	0.01880	T	0.316168	0.06277	T	0.22775126	0.45481	0.47781968	0.69749	0.22775126	0.45481	0.47781968	0.69749	-3.761	0.20223	T	.	.	0.131	0.28319	B	.	.	3.001588	0.40112	21.1	0.85230185573187844	0.15764	0.25506	0.22719	N	AEFDBHCI	0.119831	0.23370	N	-0.25449463277404	0.30924	1.728994	-0.203989606971495	0.31392	1.776189	0.997737099766794	0.35965	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	4.63	0.57175	-0.791000	0.04705	2.787000	0.34772	0.549000	0.26987	0.000000	0.06391	0.960000	0.29291	0.788000	0.37229	0.1444:0.7092:0.0:0.1464	7.482	0.26580	88	0.96322	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.012228	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	2029.43	35	chr17	40699561	.	C	T	2029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.73;DP=524;ExcessHet=0;FS=0.637;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,55:137:99:0|1:40699553_A_G:2041,0,3250:40699553	9	0	1	0
chr17	40983886	40983886	G	A	exonic	KRT40	.	nonsynonymous SNV	KRT40:NM_001385217:exon3:c.C388T:p.P130S,KRT40:NM_182497:exon3:c.C388T:p.P130S	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	.	0.0097	0.0111821	0.0025	0.0291	0.0009	0	0	1.498e-05	0	0.0003	0.0025226	390	154602	rs143255129	0.0010	0.0010	0.0011	0.0009	0.0360	0.0010	0.0010	0.0343	0.0336	0.0360	0.0017	0	0	0	0.0007	3.597e-05	0.0022	0.0002	0.0090	0.0091	0.0094	0.0087	0.0309	0.0086	0.0085	0.0295	0.0289	0.0309	0	0.0048	0	0	0	0	8.823e-05	0.0076	0	0.134	0.26300	T	0.207	0.26969	T	0.295	0.32424	B	0.517	0.48105	P	0.086596	0.20579	N	0.256528	1	0.08975	N	2.085	0.57729	M	-2.34	0.87989	D	-5.53	0.86073	D	0.299	0.35301	-0.5558	0.66565	T	0.195	0.54869	T	10	0.0045196414	0.00093	T	.	.	.	0.266	0.57999	.	.	0.790270410531	0.78832	0.07288653248739889	0.07225	0.268511784356	0.29362	0.29476994276	0.09624	T	0.26233	0.63389	T	-0.409385	0.02006	T	-0.337832	0.40590	T	0.0688942098567889	0.08495	T	.	.	.	0.09979561	0.23555	0.21255764	0.45730	0.09979561	0.23555	0.21255764	0.45729	-6.324	0.48912	T	.	.	0.101	0.17657	B	.;.	.;.	2.180197	0.27787	17.58	0.94439324727079066	0.24860	0.83155	0.42296	D	AEFGBI	0.221410	0.34604	N	-0.31328245187731	0.28643	1.581562	-0.318974216527482	0.27487	1.525526	1.50378438029178E-4	0.05573	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.3	4.32	0.50899	2.728000	0.46990	3.929000	0.40522	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.036000	0.13842	0.0:0.1431:0.7084:0.1485	10.627	0.44705	168	0.93464	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1366.43	37	chr17	40983886	.	G	A	1366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.461;DP=452;ExcessHet=0;FS=2.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.27;SOR=0.501	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1378,0,2148	9	0	1	0
chr17	41084375	41084375	T	0	exonic	KRTAP4-7;LOC100996750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	160.58	207	chr17	41084375	.	T	*	160.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.583;DP=2137;ExcessHet=0.2348;FS=0.569;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.66;MQRankSum=-12.38;QD=0.3;ReadPosRankSum=0.501;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,132:287:99:0|1:41084358_GGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA_G:3056,0,5868:41084358	9	0	1	0
chr17	41084409	41084409	C	0	exonic	KRTAP4-7;LOC100996750	.	.	.	.	447	140	423	510	2	1445	0.837493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	38193.9	209	chr17	41084409	.	C	*	38193.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.841;DP=2137;ExcessHet=1.4371;FS=1.225;InbreedingCoeff=-0.0989;MLEAC=1;MLEAF=0.05;MQ=58.56;MQRankSum=-3.001;QD=18.56;ReadPosRankSum=0.622;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,132:287:99:0|1:41084358_GGCCCCAGTGCTGCCAGTCTGTGTGCTGCCAACCCACCTGCTGTCGCCCCACCTGCTGTGAGACGACCTGCTGCCACCCTAGGTGCTGCATCTCCAGCTGCTGCCGCCCCAGCTGCTGTATGTCCAGCTGCTGCAA_G:3056,0,5868:41084358	9	0	1	0
chr17	41117880	41117880	G	A	exonic	KRTAP4-11	.	nonsynonymous SNV	KRTAP4-11:NM_033059:exon1:c.C436T:p.R146C	.	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00505006724701	.	.	0.0001	0.0018	0.0001	0	0	0	0	0	.	.	.	rs759641505	2.398e-05	2.874e-05	2.591e-05	2.204e-05	0.0002	1.741e-05	1.541e-05	7.863e-05	5.338e-05	0.0002	0	0	0	0	0.0002	1.8e-05	0.0001	1.161e-05	3.308e-05	0.0004	1.295e-05	5.409e-05	0.0002	1.267e-05	8.03e-06	3.306e-05	1.953e-05	9.895e-05	0	0	0	0	0	0	0	0	0.0002	0.014	0.53172	D	0.05	0.48080	T	0.197	0.29559	B	0.043	0.24256	B	0.009027	0.30550	U	0.000000	1	0.08975	N	2.45	0.71042	M	4.79	0.01539	T	-5.28	0.84246	D	0.174	0.18649	-0.9939	0.31591	T	0.009	0.03096	T	10	0.0326595	0.01422	T	0.00505	0.12784	T	0.116	0.32463	.	.	0.167679373172	0.16340	0.0664251906592836	0.06580	0.00826849771237	0.00747	0.204538479447	0.00600	T	0.01743	0.14224	T	-0.258192	0.13112	T	-0.608652	0.12094	T	0.110559695134636	0.13481	T	0.127087	0.00993	T	0.22406672	0.45041	0.20761688	0.45027	0.22406672	0.45041	0.20761688	0.45026	-8.734	0.65968	D	.	.	0.177	0.38676	B	.	.	2.129234	0.27108	17.35	0.90835683847494009	0.20084	0.01430	0.04814	N	AEFBI	0.053142	0.09549	N	-0.767177604203651	0.14171	0.7037787	-0.918195422349321	0.11665	0.5956682	1.81368563645829E-4	0.05844	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.57	-2.76	0.05547	-0.259000	0.08742	-1.570000	0.05148	0.667000	0.69007	0.000000	0.06391	0.000000	0.08366	0.244000	0.23106	0.0:0.5692:0.3083:0.1226	11.684	0.50735	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	285.43	111	chr17	41117880	.	G	A	285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.5;DP=1165;ExcessHet=0;FS=18.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.23;MQRankSum=-7.497;QD=2;ReadPosRankSum=-3.423;SOR=2.608	GT:AD:DP:GQ:PL	0/1:122,21:143:99:297,0,3119	9	0	1	0
chr17	41275960	41275960	C	A	exonic	KRTAP9-7	.	nonsynonymous SNV	KRTAP9-7:NM_001277332:exon1:c.C263A:p.S88Y	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00838658	0.0020	0.0228	0.0005	0	0	4.633e-05	0.0011	0.0001	0.0019146	296	154602	rs150628784	0.0006	0.0006	0.0007	0.0005	0.0222	0.0006	0.0006	0.0209	0.0204	0.0222	0.0011	0	0	0	0.0012	1.349e-05	0.0013	0.0002	0.0057	0.0057	0.0062	0.0052	0.0200	0.0054	0.0052	0.0189	0.0184	0.0200	0	0.0018	0	0	0	0.0035	1.474e-05	0.0038	0	0.005	0.63226	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.775637	0.34204	D	3.17	0.88688	M	4.76	0.01576	T	-3.98	0.73788	D	0.205	0.22742	-1.0660	0.10316	T	0.010	0.03582	T	7	0.005143583	0.00112	T	.	.	.	0.047	0.12962	.	.	0.294918367191	0.29099	0.061991991702786485	0.06139	0.0861940666823	0.09737	0.221564501524	0.01402	T	0.041548	0.25893	T	-0.576166	0.00203	T	-0.584142	0.14177	T	0.0699702061331488	0.08647	T	.	.	.	0.2723778	0.50307	0.2914247	0.55167	0.2723778	0.50307	0.2914247	0.55166	-9.02	0.67826	D	.	.	0.165	0.36295	B	.	.	2.242458	0.28638	17.86	0.98027240081709976	0.37681	0.27558	0.23311	N	AEFGBI	0.066579	0.13047	N	-0.100362324714578	0.37376	2.173674	-0.2285866855567	0.30516	1.718897	0.0028330330639329	0.09739	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.29	3.29	0.36801	0.188000	0.16826	-2.045000	0.04296	0.427000	0.20867	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.0:1.0:0.0:0.0	12.883	0.57420	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	.	.	.	.	.	.	.	.	0.05	2921.43	36	chr17	41275960	.	C	A	2921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.076;DP=639;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.55;MQRankSum=-1.147;QD=10.98;ReadPosRankSum=-0.424;SOR=0.671	GT:AD:DP:GQ:PL	0/1:144,122:266:99:2933,0,3758	9	0	1	0
chr17	41309180	41309180	C	G	exonic	KRTAP16-1	.	nonsynonymous SNV	KRTAP16-1:NM_001146182:exon1:c.G74C:p.C25S	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	.	0.00838658	0.0016	0.0220	0.0069	0	0	0	0	0.0001	0.0005821	90	154602	rs141977791	0.0006	0.0006	0.0007	0.0005	0.0225	0.0006	0.0006	0.0211	0.0206	0.0225	0.0013	0	0	0	0.0011	1.205e-05	0.0014	0.0002	0.0057	0.0057	0.0062	0.0052	0.0199	0.0054	0.0052	0.0188	0.0183	0.0199	0	0.0018	0	0	0	0.0034	1.47e-05	0.0038	0	0.085	0.32769	T	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	0.998439	0.22156	N	3.195	0.89043	M	5.67	0.00768	T	-3.85	0.72353	D	0.552	0.57775	-0.9500	0.40972	T	0.003	0.00994	T	7	0.0047529936	0.00100	T	.	.	.	0.122	0.33800	0.438	0.49157	0.0611884634855	0.05136	0.21546430433567523	0.21462	.	.	0.354245781898	0.18545	T	0.111948	0.42784	T	-0.437612	0.01336	T	-0.386439	0.34969	T	0.0374100253116339	0.03229	T	.	.	.	0.20459221	0.42573	0.25545472	0.51228	0.20459221	0.42573	0.25545472	0.51227	-7.548	0.57947	D	.	.	0.189	0.40730	B	.	.	1.796350	0.22833	15.78	0.68923003944203098	0.08809	0.51683	0.28953	D	AEFDGBI	0.085437	0.17318	N	-0.229274259372969	0.31938	1.795924	-0.314017197036611	0.27645	1.535493	0.999990359858445	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	1.64	0.22949	1.099000	0.30625	0.781000	0.21481	0.599000	0.40250	0.758000	0.29220	0.217000	0.23687	0.361000	0.25909	0.0:0.6187:0.142:0.2393	5.593	0.16595	111	0.95468	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006928	0.016304	0.015789	0.000000	0.000000	0.033333	0.000000	0.000000	0.05	1463.43	44	chr17	41309180	.	C	G	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.95;DP=439;ExcessHet=0;FS=4.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.693;SOR=0.365	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1475,0,1281	9	0	1	0
chr17	41479481	41479481	G	A	exonic	KRT35	.	nonsynonymous SNV	KRT35:NM_002280:exon3:c.C577T:p.R193W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.117171296409	0.0019	0.00139776	0.0005	0.0049	0.0002	0	0	6.006e-05	0	0.0003	0.0004916	76	154602	rs138303882	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0056	0.0054	0.0063	0.0002	0	2.519e-05	0	0.0002	4.047e-05	0.0004	0.0003	0.0015	0.0015	0.0017	0.0014	0.0054	0.0014	0.0013	0.0048	0.0046	0.0054	0	0.0005	0	0	0	0	0	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000206	0.47681	D	0.000000	0.997188	0.43692	D	4.835	0.99698	H	-2.97	0.92007	D	-7.5	0.95045	D	0.795	0.80278	0.863	0.95188	D	0.897	0.96588	D	10	0.077920586	0.12357	T	0.117171	0.79688	D	0.697	0.89053	.	.	0.721971194059	0.71951	0.6926204579238022	0.69202	0.366285121553	0.38205	0.595311641693	0.52243	T	0.852633	0.96660	D	-0.0231773	0.48399	T	0.19585	0.82898	D	0.18564619798039	0.19584	T	0.911709	0.68653	D	0.82667094	0.85673	0.77546406	0.86752	0.82667094	0.85674	0.77546406	0.86753	-6.596	0.51022	T	.	.	0.155	0.42244	B	.;.	.;.	4.085013	0.60795	24.3	0.99918809401954034	0.98586	0.96306	0.68496	D	AEFGBI	0.801059	0.72687	D	0.68954256000995	0.78946	6.975318	0.501375207931767	0.68085	5.171376	0.0266547801212618	0.13726	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	4.47	2.41	0.28644	1.455000	0.34800	-0.420000	0.09290	0.671000	0.69459	1.000000	0.71638	0.006000	0.19429	0.952000	0.50033	0.0:0.0:0.7016:0.2984	12.541	0.55520	449	0.79428	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2646.43	73	chr17	41479481	.	G	A	2646.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=890;ExcessHet=0;FS=0.493;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.099;SOR=0.744	GT:AD:DP:GQ:PL	0/1:118,107:225:99:2658,0,2722	9	0	1	0
chr17	44007339	44007339	C	A	exonic	NAGS	.	nonsynonymous SNV	NAGS:NM_153006:exon5:c.C1113A:p.F371L	N-acetylglutamate synthase deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	845484	Inborn_genetic_diseases|Hyperammonemia,_type_III	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.554	0.181997586873	.	.	4.305e-05	0	0	0	0	6.278e-05	0.0012	0	3.23e-05	5	154602	rs755872617	2.942e-05	2.941e-05	2.587e-05	3.301e-05	0.0002	2.217e-05	1.97e-05	2.455e-05	2.143e-05	0	0	0	0	0	0.0002	3.328e-05	8.282e-05	0	1.314e-05	1.313e-05	0	2.691e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.289	0.15047	T	0.0	0.92824	D	0.996	0.68779	D	0.936	0.67150	D	0.000000	0.84330	D	0.000000	0.814858	0.34692	D	1.08	0.27187	L	-2.92	0.91748	D	-0.4	0.13805	N	0.811	0.80669	0.303	0.87606	D	0.694	0.89441	D	10	0.43484622	0.57726	T	0.181998	0.85592	D	0.554	0.81601	0.562	0.68229	0.939439506675	0.93880	0.9322007906061054	0.93199	1.94421044628	0.93273	0.708179473877	0.68329	T	0.494337	0.81752	T	0.193236	0.73261	D	0.225698	0.84459	D	0.358272508197763	0.27342	T	0.823018	0.48339	T	0.4471054	0.63858	0.4276036	0.66500	0.4471054	0.63859	0.4276036	0.66500	-7.753	0.59375	D	0.29017818022092706	0.38663	0.948	0.86679	P	.;.	.;.	4.450734	0.69188	25.3	0.99747755819671191	0.84002	0.85048	0.44150	D	ALL	0.369515	0.45622	N	0.173365892579087	0.49922	3.187484	0.175646164105882	0.48515	3.066508	0.999999998585368	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	5.56	2.02	0.25641	1.137000	0.31091	1.316000	0.25570	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.7144:0.0:0.2856	9.507	0.38218	706	0.57215	Vertebrate-like NAGS Gcn5-related N-acetyltransferase (GNAT) domain;Vertebrate-like NAGS Gcn5-related N-acetyltransferase (GNAT) 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	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.003145	0.000000	0.1	3767.12	33	chr17	44007339	.	C	A	3767.12	.	AC=2;AF=0.1;AN=20;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.2;SOR=0.709	GT:AD:DP:GQ:PL	1/1:0,129:129:99:3790,387,0	9	1	0	0
chr17	50675684	50675684	G	A	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_003786:exon21:c.G2768A:p.R923Q	.	411	1105	6	0	0	6	0.00270758	.	.	.	715565	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.221	.	0.0042	0.00199681	0.0061	0.0014	0.0166	0	0.0027	0.0097	0	0.0026	0.0030142	466	154602	rs34502058	0.0048	0.0048	0.0048	0.0048	0.0059	0.0047	0.0047	0.0052	0.0052	0.0012	0.0059	0.0040	5.328e-05	0.0018	0.0023	0.0053	0.0053	0.0024	0.0041	0.0041	0.0043	0.0040	0.0095	0.0039	0.0038	0.0082	0.0077	0.0011	0.0318	0.0095	0.0052	0	0.0007	0.0034	0.0053	0.0061	0.0025	0.179	0.22053	T	0.285	0.21343	T	0.99	0.63424	D	0.478	0.47030	P	0.973981	0.07797	N	1.019040	1	0.08975	N	1.9	0.50570	L	-2.52	0.89363	D	-1.06	0.27669	N	0.211	0.23506	-0.5678	0.66103	T	0.429	0.77140	T	10	0.0101266205	0.00227	T	.	.	.	0.221	0.51721	.	.	0.83608419268	0.83452	0.22482797430313953	0.22397	0.186030908948	0.20911	0.271977186203	0.06401	T	0.07818	0.35830	T	-0.381881	0.03032	T	-0.315631	0.43052	T	0.0103270150029285	0.00141	T	0.806319	0.45525	T	0.036224034	0.04415	0.039520033	0.04062	0.036224034	0.04415	0.039520033	0.04062	-4.789	0.34463	T	.	.	0.075	0.05535	B	.	.	2.504967	0.32342	19.01	0.99839562317550135	0.92057	0.51988	0.29025	D	AEFDGBI	0.243639	0.36488	N	-0.354029097311101	0.27125	1.485691	-0.455757827002277	0.23385	1.275036	0.999853016658394	0.44174	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	1.41	0.21461	0.946000	0.28667	0.815000	0.21791	0.676000	0.76740	0.791000	0.29607	0.173000	0.23359	0.005000	0.06747	0.2668:0.0:0.569:0.1642	4.027	0.09176	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	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	0.002533	0.005208	0.001366	0.000000	0.000000	0.017241	0.000000	0.003788	0.05	1027.43	48	chr17	50675684	.	G	A	1027.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=429;ExcessHet=0;FS=1.995;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.01;SOR=0.439	GT:AD:DP:GQ:PL	0/1:34,37:71:99:1039,0,763	9	0	1	0
chr17	53823562	53823562	G	A	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.G529A:p.D177N	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00690310278713	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0002	0.0001229	19	154602	rs201369720	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	5.974e-05	0	0	0	0	0.0019	0.0002	9.935e-05	0.0001	0.0002	0.0002	8.993e-05	0.0002	0.0003	0.0001	9.241e-05	0.0002	0.0002	4.824e-05	0	6.541e-05	0	0	0	0	0.0003	0.0005	0	0.384	0.11050	T	0.479	0.11933	T	0.028	0.19712	B	0.019	0.18783	B	0.679362	0.10272	N	0.814743	1	0.08975	N	0.395	0.12235	N	-0.76	0.73417	T	-1.54	0.37375	N	0.071	0.04426	-0.9930	0.31827	T	0.175	0.51816	T	10	0.057866365	0.06713	T	0.006903	0.18261	T	0.113	0.31778	.	.	0.579627256647	0.57633	0.27616910367614184	0.27529	0.0956393424838	0.10807	0.290927648544	0.09058	T	0.00447	0.03877	T	-0.472245	0.00823	T	-0.625981	0.10721	T	0.0169875623781987	0.00448	T	0.536146	0.17993	T	0.031134343	0.02898	0.031366345	0.01715	0.031134343	0.02897	0.031366345	0.01715	-6.725	0.51999	T	.	.	0.074	0.05231	B	.	.	0.514128	0.08831	5.608	0.94558008777797131	0.25080	0.14210	0.18282	N	AEFBCI	0.039311	0.05691	N	-1.02520070257842	0.08083	0.3777647	-0.99522458213315	0.09891	0.4948359	1.77521451901398E-6	0.01202	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	-0.433	0.11674	0.443000	0.21360	0.023000	0.13619	0.676000	0.76740	0.010000	0.18352	0.000000	0.08366	0.018000	0.11154	0.4109:0.0:0.5891:0.0	10.091	0.41620	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2537.43	198	chr17	53823562	.	G	A	2537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.64;DP=1108;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.879;SOR=0.836	GT:AD:DP:GQ:PL	0/1:113,95:208:99:2549,0,2600	9	0	1	0
chr17	58308723	58308723	T	A	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon21:c.A4369T:p.T1457S,TSPOAP1:NM_001261835:exon22:c.A4549T:p.T1517S,TSPOAP1:NM_004758:exon22:c.A4549T:p.T1517S	.	346	1173	3	0	0	3	0.00127714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00781007020298	0.0019	0.00259585	0.0008	0.0079	0.0007	0	0	9.524e-05	0	0.0002	0.0007891	122	154602	rs147085967	0.0003	0.0003	0.0003	0.0003	0.0076	0.0003	0.0003	0.0068	0.0066	0.0076	0.0008	3.827e-05	0	0	0.0021	7.375e-05	0.0007	0.0001	0.0023	0.0023	0.0024	0.0021	0.0068	0.0021	0.0020	0.0062	0.0059	0.0068	0	0.0030	0.0003	0	0	0.0034	0.0001	0.0033	0	0.556	0.06606	T	0.864	0.03371	T	0.007	0.14655	B	0.01	0.14941	B	0.439411	0.12646	N	0.756822	0.999998	0.08975	N	1.085	0.27262	L	3.7	0.04079	T	0.18	0.05035	N	0.172	0.18376	-0.9189	0.45702	T	0.005	0.01615	T	10	0.0052480996	0.00115	T	0.00781	0.20720	T	0.066	0.19193	0.161	0.06507	0.154104182512	0.14974	0.18740149751186327	0.18658	0.195085890566	0.21846	0.448500871658	0.31739	T	0.008764	0.08027	T	-0.670215	0.00055	T	-0.730788	0.04292	T	0.00369069799404064	0.00039	T	0.611839	0.23263	T	0.052535415	0.09811	0.035732154	0.02881	0.052535415	0.09811	0.035732154	0.02881	-2.068	0.03449	T	.	.	0.086	0.12844	B	.;.;.	.;.;.	1.585730	0.20285	14.68	0.86091787986781876	0.16308	0.54908	0.29732	D	AEFDBCI	0.158107	0.28372	N	-0.547570337791141	0.20560	1.084728	-0.327298403031308	0.27221	1.508916	0.999979995832438	0.50053	0.634777	0.41761	0	0.643519	0.57511	0	0.769059	0.98459	0	0.584449	0.35598	0	.	.	5.11	2.78	0.31702	1.033000	0.29798	0.755000	0.21268	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1473:0.0:0.1522:0.7005	6.771	0.22777	310	0.87484	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.015152	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	582.43	37	chr17	58308723	.	T	A	582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.868;DP=380;ExcessHet=0;FS=2.25;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.888;SOR=1.051	GT:AD:DP:GQ:PL	0/1:30,26:56:99:594,0,808	9	0	1	0
chr17	58327742	58327742	C	T	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_001261835:exon1:c.G179A:p.S60N,TSPOAP1:NM_004758:exon1:c.G179A:p.S60N,TSPOAP1:NM_024418:exon1:c.G179A:p.S60N	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00790249215198	0.0021	0.00259585	0.0008	0.0074	0.0010	0	0	0.0001	0	0.0002	0.0008215	127	154602	rs146385838	0.0003	0.0003	0.0003	0.0003	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	0.0008	3.826e-05	0	0	0.0019	9.892e-05	0.0008	0.0001	0.0021	0.0021	0.0023	0.0020	0.0066	0.0020	0.0019	0.0060	0.0057	0.0066	0	0.0027	0.0003	0	0	0	5.878e-05	0.0028	0	0.003	0.68238	D	0.023	0.57104	D	0.996	0.68779	D	0.986	0.76916	D	0.024684	0.26219	N	0.330725	0.999991	0.08975	N	1.1	0.28011	L	3.18	0.07478	T	-0.85	0.23156	N	0.079	0.11054	-1.1364	0.01499	T	0.032	0.13592	T	10	0.004609406	0.00096	T	0.007902	0.20955	T	0.160	0.41473	.	.	0.268660756437	0.26461	0.2073116866809832	0.20647	0.199979703506	0.22402	0.322463780642	0.13794	T	0.012303	0.10839	T	-0.614869	0.00118	T	-0.651848	0.08825	T	0.0441151312354749	0.04441	T	0.835216	0.50504	T	0.12383885	0.29071	0.20282815	0.44330	0.12383885	0.29071	0.20282815	0.44329	-4.83	0.34939	T	.	.	0.100	0.17317	B	.;.	.;.	1.344835	0.17516	13.21	0.99135180120587674	0.53383	0.21836	0.21541	N	AEFDBHCIJ	0.075554	0.15174	N	-0.16098297316898	0.34770	1.988633	-0.258110543749995	0.29492	1.652785	0.999999568151484	0.74766	0.403107	0.06075	0	0.093493	0.02558	3	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.64	2.49	0.29274	0.001000	0.12940	-0.044000	0.12631	0.599000	0.40250	0.000000	0.06391	0.324000	0.24338	0.004000	0.06068	0.0:0.6767:0.2111:0.1122	5.285	0.15008	309	0.87553	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002725	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1720.43	33	chr17	58327742	.	C	T	1720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=451;ExcessHet=0;FS=1.416;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.517;SOR=0.849	GT:AD:DP:GQ:PL	0/1:58,67:125:99:1732,0,1350	9	0	1	0
chr17	58521604	58521604	A	T	exonic	SEPTIN4	.	nonsynonymous SNV	SEPTIN4:NM_001363803:exon7:c.T661A:p.F221I,SEPTIN4:NM_001198713:exon8:c.T934A:p.F312I,SEPTIN4:NM_001256822:exon8:c.T517A:p.F173I,SEPTIN4:NM_004574:exon8:c.T958A:p.F320I,SEPTIN4:NM_080416:exon8:c.T901A:p.F301I,SEPTIN4:NM_001256782:exon9:c.T1003A:p.F335I,SEPTIN4:NM_001368771:exon10:c.T2512A:p.F838I,SEPTIN4:NM_001368772:exon10:c.T937A:p.F313I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606	0.0756068899213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.59928	D	0.084	0.55341	T	0.987	0.70673	D	0.903	0.81110	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.5	0.92762	M	1.44	0.32722	T	-4.09	0.74900	D	0.856	0.86085	-0.4699	0.69728	T	0.243	0.61201	T	10	0.87120175	0.86386	D	0.075607	0.72330	D	0.606	0.84506	0.726	0.86024	0.834668003253	0.83309	0.8503735103906449	0.84999	1.47686996324	0.86643	0.805797696114	0.82847	D	0.168326	0.85714	T	0.26905	0.80356	D	0.148695	0.80102	D	0.988297402858734	0.78645	D	0.754325	0.37688	T	0.5426311	0.69543	0.47635296	0.69659	0.5426311	0.69544	0.47635296	0.69659	-15.776	0.98042	D	.	.	0.696	0.82507	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.543500	0.71441	25.7	0.913296866254795	0.20591	0.98942	0.88948	D	AEFBI	0.976420	0.99672	D	0.867702221094668	0.90091	10.24936	0.804455715149489	0.90102	10.25677	0.999999999533515	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.23	5.23	0.72570	9.309000	0.95312	9.351000	0.80297	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.061	0.58416	306	0.87689	.;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-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	.	.	.	.	.	.	.	.	0.05	791.43	34	chr17	58521604	.	A	T	791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.71;DP=378;ExcessHet=0;FS=15.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=2.03;SOR=0.085	GT:AD:DP:GQ:PL	0/1:30,29:59:99:803,0,855	9	0	1	0
chr17	63972613	63972613	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon1:c.G229A:p.G77S	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	845904	not_provided|Familial_hyperkalemic_periodic_paralysis|Inborn_genetic_diseases	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.323	0.0610593970685	8e-05	.	9.711e-05	0	0	0	0	2.465e-05	0	0.0005	5.17e-05	8	154602	rs369547459	3.65e-05	3.762e-05	2.875e-05	4.435e-05	0.0004	2.847e-05	2.582e-05	0.0003	0.0002	3.005e-05	0	0	0	3.785e-05	0	1.716e-05	1.664e-05	0.0004	1.972e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.88	0.48402	P	0.161	0.34794	B	0.000268	0.46590	D	0.225652	0.773184	0.34176	D	1.305	0.32671	L	-3.77	0.95595	D	-0.27	0.11366	N	0.142	0.14196	0.437	0.89646	D	0.670	0.88549	D	10	0.07641485	0.11935	T	0.061059	0.68209	D	0.323	0.64522	.	.	0.729137383923	0.72673	0.703072934731108	0.70248	0.254249402073	0.27993	0.40438747406	0.25679	T	0.294606	0.66729	T	-0.257536	0.13189	T	-0.258278	0.48996	T	0.0743877279463163	0.09254	T	0.961204	0.85427	D	0.08210922	0.18898	0.11282218	0.27224	0.08210922	0.18898	0.11282218	0.27224	-6.408	0.49572	T	0.11671625861070688	0.10582	0.178	0.38924	B	.	.	3.010716	0.40265	21.1	0.74011019777244758	0.10537	0.73543	0.35973	D	AEFGBI	0.500780	0.53390	D	-0.237942804452233	0.31587	1.772691	-0.187484554249199	0.31996	1.816029	0.890099548578371	0.25828	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.33	4.33	0.51083	1.324000	0.33318	4.066000	0.41626	0.549000	0.26987	0.030000	0.20431	0.999000	0.35428	0.929000	0.46594	0.0:1.0:0.0:0.0	15.990	0.79987	789	0.46346	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1690.43	38	chr17	63972613	.	C	T	1690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=516;ExcessHet=0;FS=2.784;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.163;SOR=0.784	GT:AD:DP:GQ:PL	0/1:87,71:158:99:1702,0,2027	9	0	1	0
chr17	64586147	64586147	T	C	exonic	SMURF2	.	nonsynonymous SNV	SMURF2:NM_022739:exon6:c.A424G:p.I142V	.	939	577	4	2	0	8	0.00688468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.00508436780846	7.7e-05	0.000798722	0.0005	0	0.0005	0	0	0.0006	0	0.0007	0.0004528	70	154602	rs145845053	0.0004	0.0004	0.0003	0.0004	0.0053	0.0004	0.0003	0.0037	0.0031	0.0002	0.0013	7.665e-05	0	1.875e-05	0.0053	0.0003	0.0007	0.0007	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0015	0.0013	4.81e-05	0	0.0021	0	0	9.416e-05	0.0068	0.0004	0	0.0006	0.717	0.03961	T	0.848	0.03527	T	0.235	0.30743	B	0.18	0.35854	B	0.000000	0.84330	D	0.075997	0.999999	0.58761	D	0.95	0.23787	L	1.0	0.42502	T	0.12	0.05604	N	0.416	0.45615	-1.0518	0.13899	T	0.072	0.29291	T	10	0.024222106	0.00659	T	0.005084	0.12877	T	0.161	0.41658	.	.	0.406146819375	0.40232	0.11133819393929613	0.11062	0.652302273137	0.58425	0.755264341831	0.75225	T	0.055475	0.30017	T	-0.378604	0.03179	T	-0.362166	0.37800	T	0.0469213081306338	0.04951	T	0.904909	0.67324	D	0.10002899	0.23614	0.08177325	0.18610	0.10002899	0.23614	0.08177325	0.18610	-4.304	0.28232	T	.	.	0.099	0.30529	B	.;.	.;.	3.852568	0.55822	23.7	0.97143993252549821	0.32555	0.98370	0.82087	D	AEFBI	0.907018	0.86052	D	0.0289340100920857	0.43173	2.615578	0.233042048140014	0.51689	3.349384	0.999846416847085	0.43971	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.645665	0.59343	0	.	.	5.45	5.45	0.79688	5.707000	0.68023	7.829000	0.70041	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.524	0.75620	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	448.43	33	chr17	64586147	.	T	C	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.475;DP=332;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.937;SOR=0.941	GT:AD:DP:GQ:PL	0/1:20,18:38:99:460,0,507	9	0	1	0
chr17	64895162	64895162	G	T	exonic	LRRC37A3	.	nonsynonymous SNV	LRRC37A3:NM_199340:exon4:c.C2096A:p.T699K	.	483	1038	1	0	0	1	0.000481464	.	.	.	3696855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00691555698345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407466641	5.484e-05	6.423e-05	5.761e-05	5.212e-05	0.0003	4.433e-05	4.07e-05	4.783e-05	4.379e-05	0	2.257e-05	0	0	0	0.0003	6.075e-05	0.0001	3.613e-05	3.873e-05	4.989e-05	4.923e-05	2.715e-05	0.0004	1.029e-05	4.85e-06	7.25e-06	2.71e-06	0	0	0	0	0	0	0	4.374e-05	0	0.0004	0.044	0.41096	D	0.036	0.52060	D	0.765	0.43734	P	0.501	0.47677	P	.	.	.	.	1	0.22906	N	2.785	0.81254	M	0.14	0.60854	T	-4.26	0.76174	D	0.187	0.30687	-0.8666	0.50783	T	0.209	0.56839	T	9	0.16004762	0.30056	T	0.006916	0.18289	T	0.097	0.27909	0.288	0.24761	0.0762999501168	0.06990	0.13827700893021289	0.13751	.	.	0.719492316246	0.69972	T	0.114918	0.43311	T	-0.125564	0.32216	T	-0.418141	0.31288	T	0.264114456118625	0.23494	T	0.722228	0.33571	T	0.21868664	0.44383	0.21293445	0.45783	0.21868664	0.44383	0.21293445	0.45782	-8.013	0.61159	D	.	.	0.232	0.47611	B	.;.	.;.	1.632688	0.20842	14.94	0.92521673067682808	0.21963	0.05887	0.11836	N	AEFI	0.061498	0.11761	N	-0.380567168173399	0.26162	1.42572	-0.582824867011016	0.19941	1.07215	7.39948429643802E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.04	2.04	0.25787	0.501000	0.22286	-1.487000	0.05328	-0.935000	0.02124	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	7.680	0.27674	934	0.15400	Leucine-rich repeat-containing protein 37, N-terminal;Leucine-rich repeat-containing protein 37, 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	.	.	.	.	.	.	.	.	0.05	306.43	34	chr17	64895162	.	G	T	306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.1;DP=292;ExcessHet=0;FS=2.078;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.45;MQRankSum=0.547;QD=9.29;ReadPosRankSum=2.31;SOR=1.312	GT:AD:DP:GQ:PL	0/1:19,14:33:99:318,0,451	9	0	1	0
chr17	73350247	73350247	G	C	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon43:c.C6028G:p.L2010V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00389150208567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.184e-07	1.45e-06	0	1.864e-06	3.653e-05	0	0	.	.	3.653e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.02832	T	0.63	0.07196	T	0.0	0.02946	B	0.001	0.04355	B	0.000828	0.41547	D	0.163209	0.758269	0.29566	N	0	0.06538	N	0.34	0.58176	T	-0.14	0.12099	N	0.157	0.16308	-1.0444	0.16000	T	0.045	0.19275	T	10	0.11116895	0.20806	T	0.003892	0.09148	T	0.044	0.11924	0.317	0.29419	0.409533910539	0.40566	0.1565458422726856	0.15575	0.245839564261	0.27107	0.684024453163	0.64847	T	0.010942	0.09827	T	-0.261622	0.12710	T	-0.613578	0.11696	T	0.108988514530317	0.13318	T	0.922508	0.71813	D	0.026471697	0.01709	0.03421714	0.02451	0.026471697	0.01709	0.03421714	0.02450	-5.561	0.42434	T	.	.	0.116	0.23395	B	.;.	.;.	2.064548	0.26254	17.05	0.95998155094599669	0.28408	0.76742	0.37662	D	AEFGBI	0.147421	0.27109	N	-0.590754058430144	0.19223	1.004472	-0.358646527947232	0.26242	1.448234	0.976984664691974	0.29777	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.53	2.23	0.27189	1.334000	0.33433	2.982000	0.35844	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1917:0.0:0.439:0.3692	4.547	0.11485	486	0.77016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	778.43	36	chr17	73350247	.	G	C	778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.626;DP=418;ExcessHet=0;FS=2.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=0;QD=11.12;ReadPosRankSum=-1.954;SOR=1.051	GT:AD:DP:GQ:PL	0/1:37,33:70:99:790,0,921	9	0	1	0
chr17	74947158	74947158	G	A	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon6:c.G1249A:p.V417M,OTOP3:NM_178233:exon6:c.G1303A:p.V435M	.	427	1018	75	2	0	79	0.0373522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	.	0.0015	0.0061901	0.0060	0.0004	0.0020	0	0.0005	0.0021	0.0100	0.0331	0.0052134	806	154602	rs36036654	0.0029	0.0029	0.0020	0.0038	0.0305	0.0028	0.0028	0.0296	0.0292	0.0002	0.0019	0.0160	0.0002	0.0006	0.0175	0.0006	0.0045	0.0305	0.0020	0.0020	0.0013	0.0028	0.0306	0.0019	0.0018	0.0266	0.0251	0.0004	0	0.0017	0.0135	0.0004	0.0002	0.0102	0.0009	0.0024	0.0306	0.099	0.30656	T	.	.	.	1.0	0.90584	D	0.995	0.83170	D	0.000007	0.62929	D	0.000000	0.999656	0.48079	D	3.115	0.87836	M	1.8	0.25344	T	-0.87	0.23590	N	.	.	-0.7817	0.56206	T	0.167	0.50632	T	10	0.012928009	0.00276	T	.	.	.	0.325	0.64725	.	.	0.629528454764	0.62650	0.41167949801164166	0.41083	0.222252166983	0.24760	0.715541243553	0.69397	T	0.018344	0.14803	T	-0.331264	0.06016	T	-0.225617	0.52195	T	0.0528079158904391	0.05987	T	0.89491	0.63503	D	0.24908622	0.47901	0.29670504	0.55704	0.24908622	0.47901	0.29670504	0.55703	-7.699	0.59001	D	.	.	0.401	0.59628	A	.;.	.;.	4.544321	0.71454	25.7	0.9990039393200798	0.97199	0.96533	0.69615	D	AEFGBI	0.795704	0.72305	D	0.715737068723012	0.80662	7.344704	0.637523299539449	0.77683	6.727076	0.17361676551724	0.17771	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.54	4.54	0.55220	6.905000	0.75535	8.674000	0.78019	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.524000	0.29567	0.0878:0.0:0.9122:0.0	10.906	0.46288	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.009511	0.023392	0.000000	0.008621	0.009146	0.007576	0.05	2150.43	36	chr17	74947158	.	G	A	2150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.425;DP=483;ExcessHet=0;FS=5.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-1.021;SOR=1.204	GT:AD:DP:GQ:PL	0/1:49,85:134:99:2162,0,1049	9	0	1	0
chr17	75616381	75616389	AGGAGGAGG	-	exonic	MYO15B	.	nonframeshift deletion	MYO15B:NM_001309242:exon37:c.6065_6073del:p.E2031_E2033del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1386483374	0.0006	0.0005	0.0007	0.0005	0.0090	0.0005	0.0005	0.0077	0.0072	0.0090	0.0014	0	0.0001	3.333e-05	0.0013	0.0003	0.0011	8.63e-05	0.0028	0.0028	0.0030	0.0025	0.0084	0.0025	0.0024	0.0076	0.0073	0.0084	0	0.0032	0	0	0	0	0.0002	0.0034	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4683.74	37	chr17	75616380	.	CAGGAGGAGG	C	4683.74	.	AC=1;AF=0.05;AN=20;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=1;MLEAF=0.05;MQ=60;QD=31.3;SOR=0.922	GT:AD:DP:GQ:PL	0/1:0,27:55:99:2185,1123,1169	9	0	1	0
chr17	75629429	75629429	G	A	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon16:c.C1994T:p.P665L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00489422874464	0.0029	0.00259585	0.0009	0.0079	0.0008	0	0	0.0003	0.0013	0	0.0007956	123	154602	rs201916143	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0003	0.0060	0.0057	0.0068	0.0011	0	2.604e-05	0	0.0015	0.0001	0.0007	2.956e-05	0.0025	0.0025	0.0027	0.0023	0.0076	0.0023	0.0022	0.0069	0.0066	0.0076	0	0.0032	0	0	0	0	0.0001	0.0038	0	1.0	0.00964	T	0.332	0.18560	T	0.01	0.15535	B	0.009	0.14300	B	0.548855	0.11457	N	0.804399	1	0.08975	N	0.625	0.15840	N	0.86	0.46777	T	-1.21	0.30762	N	0.043	0.01740	-1.0481	0.14932	T	0.039	0.16806	T	10	0.007410139	0.00168	T	0.004894	0.12286	T	0.074	0.21613	.	.	0.358744678677	0.35482	0.17709375427676688	0.17628	0.120506696489	0.13571	0.226647749543	0.01729	T	0.086847	0.37814	T	-0.507757	0.00517	T	-0.497569	0.22601	T	0.00410706811714907	0.00044	T	0.49935	0.26514	T	0.017435107	0.00273	0.021821104	0.00222	0.017435107	0.00272	0.021821104	0.00222	-3.332	0.14153	T	.	.	0.065	0.03552	B	.;.;.;.	.;.;.;.	-0.127380	0.03481	0.650	0.66025398599498064	0.07940	0.07325	0.13346	N	AEFGBHCI	0.059949	0.11360	N	-1.61479879002633	0.01192	0.05183411	-1.64725320836843	0.01390	0.06281301	0.953844460646219	0.28097	0.732398	0.92422	0	0.743671	0.97443	0	0.635938	0.45252	0	0.683762	0.67416	0	.	.	4.96	-4.09	0.03685	0.426000	0.21081	0.800000	0.21650	-1.549000	0.00965	0.001000	0.13787	0.025000	0.21018	0.000000	0.00833	0.5098:0.0:0.2624:0.2278	5.319	0.15177	976	0.04745	.;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004115	0.010204	0.006793	0.003311	0.000000	0.000000	0.006098	0.000000	0.05	1153.43	67	chr17	75629429	.	G	A	1153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.857;DP=749;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.783;SOR=0.436	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1165,0,797	9	0	1	0
chr17	76009232	76009232	C	T	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G4039A:p.V1347M,EVPL:NM_001988:exon22:c.G3973A:p.V1325M	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0284445430023	.	0.000199681	2.517e-05	0	8.697e-05	0	0	1.529e-05	0	6.075e-05	2.59e-05	4	154602	rs574918697	1.374e-05	1.505e-05	9.571e-06	1.794e-05	0.0014	8.97e-06	7.29e-06	0.0007	0.0005	0	6.708e-05	0	0	0	0.0014	4.497e-06	4.971e-05	1.159e-05	6.566e-06	6.561e-06	1.285e-05	0	6.536e-05	0	0	.	.	0	0	6.536e-05	0	0	0	0	0	0	0	0.153	0.24372	T	0.108	0.37730	T	0.868	0.47740	P	0.486	0.47228	P	0.000243	0.46924	D	0.185800	0.544758	0.32083	D	2.3	0.65703	M	0.65	0.52642	T	-0.4	0.13805	N	0.305	0.44187	-0.3571	0.73348	T	0.240	0.60750	T	10	0.14446944	0.27416	T	0.028445	0.51122	D	0.152	0.39956	0.086	0.00867	0.557792573389	0.55439	0.12899997254055728	0.12824	0.540742379595	0.51266	0.436554908752	0.30106	T	0.144951	0.48183	T	-0.223353	0.17537	T	-0.45095	0.27592	T	0.463929504156113	0.31309	T	0.915808	0.69967	D	0.043604307	0.06825	0.077165514	0.17164	0.043604307	0.06824	0.077165514	0.17163	-6.664	0.51539	T	.	.	0.184	0.39848	B	.;.	.;.	3.498856	0.48938	22.7	0.9961459834764389	0.75052	0.90880	0.52436	D	AEFDBI	0.515195	0.54225	D	0.17069780738404	0.49796	3.176059	0.138219877561363	0.46520	2.896761	0.996214404915501	0.34598	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.41	4.43	0.52967	3.886000	0.55903	2.705000	0.34191	-0.217000	0.08171	1.000000	0.71638	0.993000	0.31925	0.891000	0.42908	0.0:0.6699:0.3301:0.0	15.337	0.73975	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1377.43	66	chr17	76009232	.	C	T	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.85;DP=550;ExcessHet=0;FS=2.007;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=1.38;SOR=0.77	GT:AD:DP:GQ:PL	0/1:97,64:161:99:1389,0,2430	9	0	1	0
chr17	78414893	78414893	C	G	exonic	PGS1	.	nonsynonymous SNV	PGS1:NM_024419:exon8:c.C1417G:p.L473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00176104843523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18122	T	0.499	0.11227	T	0.172	0.28767	B	0.025	0.20508	B	0.000719	0.42254	U	0.100339	0.998973	0.46865	D	1.955	0.52871	M	.	.	.	-0.77	0.21429	N	0.32	0.36043	-1.0013	0.29545	T	0.128	0.43524	T	9	0.1865736	0.34129	T	0.001761	0.02986	T	0.115	0.32236	0.495	0.58363	0.366848117066	0.36290	0.4513748628990236	0.45055	0.471099041256	0.46381	0.606831789017	0.53868	T	0.043718	0.26591	T	-0.123228	0.32596	T	-0.414785	0.31673	T	0.472030296000789	0.31605	T	0.810019	0.46084	T	0.123008	0.28893	0.087404266	0.20313	0.123008	0.28893	0.087404266	0.20313	-9.651	0.71796	D	.	.	0.098	0.16407	B	.	.	3.102843	0.41819	21.4	0.98685017212660098	0.44667	0.94161	0.60297	D	AEFDGBIJ	0.533820	0.55311	D	-0.128729328185494	0.36143	2.085347	0.0223056789718178	0.40753	2.437181	0.999999974292116	0.74766	0.631515	0.41029	0	0.71359	0.82159	0	0.697927	0.64325	0	0.662433	0.64102	0	.	.	4.42	4.42	0.52775	2.875000	0.48189	5.805000	0.49965	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9134:0.0:0.0866	10.807	0.45725	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	619.43	37	chr17	78414893	.	C	G	619.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.199;DP=355;ExcessHet=0;FS=5.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.123;SOR=1.528	GT:AD:DP:GQ:PL	0/1:24,27:51:99:631,0,553	9	0	1	0
chr17	78537328	78537328	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon19:c.C2830T:p.R944W	.	425	1089	7	1	0	9	0.00411523	.	.	.	3547077	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.258	0.123250735721	0.0019	0.000199681	0.0047	0.0009	0.0061	0	0	0.0067	0.0035	0.0037	0.0017141	265	154602	rs200709141	0.0017	0.0017	0.0017	0.0017	0.0019	0.0016	0.0016	0.0019	0.0018	0.0002	0.0009	7.819e-05	0	0.0003	0.0019	0.0019	0.0012	0.0019	0.0013	0.0013	0.0012	0.0013	0.0023	0.0011	0.0011	0.0020	0.0019	0.0004	0.0011	0.0005	0	0	9.418e-05	0	0.0023	0	0.0012	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.987451	0.40594	D	3.435	0.92070	M	1.7	0.27184	T	-6.67	0.92346	D	0.853	0.85343	-0.8359	0.52917	T	0.145	0.46877	T	7	0.051567137	0.05059	T	0.123251	0.80439	D	0.258	0.56959	.	.	0.353125101423	0.34923	0.8174882663212304	0.81705	.	.	0.459829211235	0.33286	T	0.183748	0.53619	T	-0.163722	0.26188	T	-0.0135002	0.69455	D	0.0793807252968984	0.09907	T	0.904909	0.66542	D	0.2014628	0.42157	0.23772974	0.49077	0.190999	0.40708	0.14795312	0.34992	-10.071	0.74336	D	0.7397968848607426	0.82182	0.634	0.70276	P	.;.	.;.	3.287041	0.45060	22.1	0.99910595361872589	0.98022	0.94394	0.61025	D	AEFDGBI	0.710051	0.66394	D	0.062500683055526	0.44719	2.740899	-0.00799718714948586	0.39353	2.331963	0.999970626199619	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.83	2.75	0.31439	2.180000	0.42167	3.134000	0.36454	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	0.0:0.0:0.6865:0.3135	12.714	0.56474	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001517	0.000000	0.001366	0.002941	0.000000	0.000000	0.003086	0.000000	0.05	779.43	35	chr17	78537328	.	G	A	779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.727;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.185;SOR=0.671	GT:AD:DP:GQ:PL	0/1:33,35:68:99:791,0,672	9	0	1	0
chr17	80048756	80048756	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon5:c.G850C:p.D284H,CCDC40:NM_001330508:exon5:c.G850C:p.D284H,CCDC40:NM_017950:exon5:c.G850C:p.D284H	Ciliary dyskinesia, primary, 15	0	1480	41	1	0	43	0.014319	.	.	.	256485	Primary_ciliary_dyskinesia_15|Primary_ciliary_dyskinesia|Male_infertility|not_specified|not_provided	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0024	0.00139776	0.0041	0.0012	0.0013	0	0	0.0039	0.0145	0.0102	0.002639	408	154602	rs201042940	0.0025	0.0025	0.0023	0.0027	0.0191	0.0024	0.0024	0.0162	0.0151	0.0011	0.0013	0.0062	0	0.0002	0.0191	0.0021	0.0032	0.0087	0.0016	0.0016	0.0014	0.0018	0.0087	0.0014	0.0014	0.0066	0.0059	0.0004	0.0011	0.0008	0.0037	0	0.0002	0.0204	0.0021	0.0043	0.0087	0.004	0.72154	D	0.008	0.76473	D	1.0	0.90584	D	0.968	0.75168	D	.	.	.	.	0.633722	0.32813	D	2.83	0.82355	M	0.33	0.59314	T	-4.65	0.84601	D	0.53	0.55886	-0.2553	0.76216	T	0.347	0.71147	T	9	0.01399526	0.00295	T	.	.	.	0.174	0.44019	.	.	0.682504492806	0.67979	0.24220831427307404	0.24134	0.76162819002	0.64289	0.405483782291	0.25832	T	0.56747	0.85623	D	-0.250417	0.14046	T	-0.125376	0.61358	T	0.0493624269693155	0.05388	T	0.881912	0.64770	D	0.2342842	0.46246	0.24963558	0.50538	0.23541293	0.46377	0.29497436	0.55528	-7.763	0.62419	D	0.7666023762268043	0.84792	0.346	0.56831	A	.;.;.;.	.;.;.;.	2.747739	0.36012	20.1	0.99456458065418962	0.65581	0.51224	0.28846	D	AEFGBIJ	0.137980	0.25913	N	0.264883616036358	0.54378	3.603614	0.120231942431681	0.45586	2.81906	6.51723434342093E-4	0.07551	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.526000	0.22680	0.951000	0.22923	0.676000	0.76740	0.531000	0.27197	0.039000	0.21534	0.958000	0.51230	0.2692:0.0:0.7308:0.0	8.520	0.32428	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017641	0.005051	0.019074	0.035088	0.050000	0.051724	0.003067	0.015152	0.1	3474.14	36	chr17	80048756	.	G	C	3474.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.113;DP=631;ExcessHet=0.2348;FS=0.406;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.13;SOR=0.652	GT:AD:DP:GQ:PL	0/1:79,65:144:99:1503,0,1890	8	0	2	0
chr17	81647992	81647992	G	C	exonic	TSPAN10	.	nonsynonymous SNV	TSPAN10:NM_001290212:exon4:c.G766C:p.D256H,TSPAN10:NM_031945:exon4:c.G766C:p.D256H	.	419	1083	20	0	0	20	0.00914913	.	.	.	3393259	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0003	0.00259585	0.0026	0.0001	0.0008	0	0	0.0009	0.0059	0.0137	0.0018564	287	154602	rs201722214	0.0011	0.0011	0.0008	0.0015	0.0107	0.0011	0.0011	0.0101	0.0099	8.965e-05	0.0004	0.0013	0	3.851e-05	0.0038	0.0005	0.0010	0.0107	0.0009	0.0009	0.0007	0.0010	0.0103	0.0007	0.0007	0.0081	0.0072	2.405e-05	0	0.0003	0.0012	0.0004	0	0	0.0010	0.0009	0.0103	.	.	.	0.05	0.48336	T	.	.	.	.	.	.	0.060957	0.02139	N	2.072080	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.076	0.09772	-0.9687	0.37468	T	0.036	0.15509	T	9	0.0077396035	0.00176	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.8019243671101096	0.80146	.	.	0.333562344313	0.15471	T	.	.	.	-0.429711	0.01488	T	-0.380631	0.35649	T	0.111549477771691	0.13583	T	0.563244	0.19836	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34094	B	.;.	.;.	1.474146	0.18984	14.03	0.94576230690916896	0.25115	0.05455	0.11333	N	AEFBI	0.337054	0.43497	N	-0.504914632844449	0.21921	1.16686	-0.739732861727419	0.15975	0.8428517	0.160109853412967	0.17579	0.163419	0.03694	0	0.059962	0.00310	0	0.172434	0.04157	0	0.085113	0.02366	1	.	.	4.48	-4.39	0.03360	-0.122000	0.10602	-0.210000	0.10862	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.893000	0.43066	0.387:0.0992:0.312:0.2018	1.321	0.01989	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001359	0.008772	0.000000	0.008621	0.012195	0.003788	0.05	1413.43	34	chr17	81647992	.	G	C	1413.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.363;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-1.07;SOR=0.74	GT:AD:DP:GQ:PL	0/1:76,62:138:99:1425,0,1748	9	0	1	0
chr17	82084716	82084716	-	CTA	exonic	FASN	.	nonframeshift insertion	FASN:NM_004104:exon27:c.4564_4565insTAG:p.E1521_D1522insV	.	1	1519	2	0	0	2	0.000657895	.	.	.	469094	not_provided|Epileptic_encephalopathy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0.0002	3.84e-05	1	26028	rs764277201	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0005	0.0003	3.115e-05	0.0002	0	0	0	0.0011	0.0002	0.0002	9.965e-05	9.203e-05	9.194e-05	0.0002	1.346e-05	0.0002	5.53e-05	4.367e-05	9.049e-05	7.013e-05	2.415e-05	0	6.545e-05	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002047	0.000000	0.001385	0.003012	0.000000	0.000000	0.006289	0.000000	0.05	2606.39	40	chr17	82084716	.	T	TCTA	2606.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=460;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.461;SOR=0.723	GT:AD:DP:GQ:PL	0/1:58,67:125:99:2618,0,2234	9	0	1	0
chr17	83094385	83094385	A	G	exonic	METRNL	.	nonsynonymous SNV	METRNL:NM_001004431:exon4:c.A746G:p.H249R,METRNL:NM_001363853:exon5:c.A500G:p.H167R	.	428	1081	13	0	0	13	0.00597701	.	.	.	704524	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.069	.	0.0071	0.00219649	0.0076	0.0020	0.0036	0	0.0076	0.0118	0.0034	0.0014	0.0077683	1201	154602	rs142120953	0.0091	0.0091	0.0094	0.0089	0.0107	0.0090	0.0089	0.0105	0.0104	0.0020	0.0041	0.0086	2.525e-05	0.0062	0.0078	0.0107	0.0086	0.0013	0.0066	0.0066	0.0070	0.0061	0.0107	0.0062	0.0061	0.0101	0.0098	0.0024	0.0033	0.0040	0.0115	0	0.0040	0.0136	0.0107	0.0047	0.0023	0.864	0.02645	T	1.0	0.07946	T	0.0	0.02946	B	0.001	0.04355	B	0.705393	0.06227	U	1.184600	0.998019	0.22395	N	0.46	0.12951	N	1.63	0.28002	T	0.11	0.05706	N	0.033	0.02759	-1.0305	0.20292	T	0.016	0.06329	T	9	0.005649507	0.00125	T	.	.	.	0.069	0.20116	.	.	0.110392049598	0.10638	0.43763541918877424	0.43680	0.660348290048	0.58863	0.448381245136	0.31722	T	0.009953	0.09029	T	-0.673004	0.00053	T	-0.728469	0.04397	T	0.00632219274710579	0.00070	T	0.443756	0.12347	T	0.030983087	0.02856	0.0344135	0.02503	0.030983087	0.02856	0.0344135	0.02502	-2.128	0.03706	T	.	.	0.058	0.06896	B	.;.;.;.	.;.;.;.	0.492847	0.08619	5.389	0.24717151852336042	0.01106	0.23175	0.21990	N	AEFBI	0.052061	0.09257	N	-1.26250315225431	0.04137	0.1861455	-1.23862037219702	0.05301	0.2522801	0.994498627880659	0.33662	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.7	-5.4	0.02449	1.341000	0.33512	2.127000	0.30755	-0.089000	0.16174	0.889000	0.31176	1.000000	0.68203	0.031000	0.13245	0.2633:0.1543:0.2778:0.3047	0.288	0.00237	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005045	0.000000	0.008174	0.000000	0.000000	0.000000	0.009202	0.000000	0.05	1540.43	33	chr17	83094385	.	A	G	1540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.958;DP=480;ExcessHet=0;FS=2.808;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.589;SOR=0.49	GT:AD:DP:GQ:PL	0/1:92,69:161:99:1552,0,2443	9	0	1	0
chr18	2732448	2732448	G	A	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3232A:p.E1078K	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0252814111583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.046	0.49120	D	0.919	0.50927	P	0.395	0.44317	B	0.000043	0.53742	D	0.122583	0.960458	0.38181	D	1.175	0.29870	L	1.86	0.24285	T	-1.2	0.30555	N	0.386	0.42737	-1.1062	0.03417	T	0.063	0.26244	T	10	0.31736785	0.49147	T	0.025281	0.48255	D	0.179	0.44899	0.395	0.42099	0.171220215726	0.16700	0.5070269732976612	0.50624	0.249247192868	0.27497	0.647655010223	0.59653	T	0.118561	0.43946	T	0.0465045	0.57891	T	-0.170976	0.57354	T	0.877296686172485	0.52719	D	0.840116	0.51512	T	0.23279612	0.46073	0.16777822	0.38688	0.23279612	0.46073	0.16777822	0.38688	-6.096	0.47076	T	0.16198928617406946	0.19868	0.217	0.44720	B	.	.	3.509325	0.49139	22.7	0.99874730886920349	0.95160	0.90737	0.52166	D	AEFGBI	0.383586	0.46503	N	0.400945318371357	0.61476	4.349073	0.476679891659967	0.66448	4.953359	0.999639206483282	0.41205	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.27	5.27	0.73797	5.240000	0.65201	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.885	0.92343	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	59.5	76	chr18	2732448	.	G	A	59.5	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.884;DP=519;ExcessHet=0;FS=64.077;InbreedingCoeff=-0.1061;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.298;SOR=6.593	GT:AD:DP:GQ:PL	0/1:63,26:89:70:70,0,1000	8	0	1	1
chr18	7033062	7033062	A	-	exonic	LAMA1	.	frameshift deletion	LAMA1:NM_005559:exon15:c.2085delT:p.N696Mfs*102	Poretti-Boltshauser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2693.39	35	chr18	7033061	.	TA	T	2693.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=526;ExcessHet=0;FS=6.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.43;SOR=1.233	GT:AD:DP:GQ:PL	0/1:84,79:163:99:2705,0,2884	9	0	1	0
chr18	8085816	8085816	G	A	exonic	PTPRM	.	nonsynonymous SNV	PTPRM:NM_001378142:exon6:c.G1058A:p.S353N,PTPRM:NM_001378143:exon6:c.G1058A:p.S353N,PTPRM:NM_001378144:exon6:c.G1058A:p.S353N,PTPRM:NM_001378145:exon6:c.G1058A:p.S353N,PTPRM:NM_001378146:exon6:c.G1058A:p.S353N,PTPRM:NM_001378147:exon6:c.G1058A:p.S353N,PTPRM:NM_001105244:exon10:c.G1697A:p.S566N,PTPRM:NM_002845:exon10:c.G1697A:p.S566N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0178076974896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1052122056	6.844e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.14945	T	0.072	0.43344	T	0.918	0.50838	P	0.711	0.54536	P	0.000000	0.84330	D	0.078794	0.999989	0.54805	D	2.375	0.68372	M	0.41	0.57100	T	-1.03	0.27052	N	0.874	0.87157	-0.6785	0.61442	T	0.323	0.69221	T	10	0.72675896	0.74025	D	0.017808	0.39652	T	0.258	0.56959	0.525	0.62967	0.646366940051	0.64343	0.5413807467112084	0.54063	0.526113108519	0.50245	0.834138214588	0.87197	D	0.097686	0.40075	T	-0.00867465	0.50452	T	-0.250237	0.49793	T	0.970704257488251	0.69046	D	0.975436	0.91320	D	0.49782422	0.66967	0.29391807	0.55421	0.49782422	0.66968	0.29391807	0.55420	-10.898	0.79926	D	.	.	0.473	0.64311	A	.;.;.	.;.;.	5.092370	0.85040	28.5	0.99686310993973748	0.79641	0.98409	0.82480	D	AEFGBI	0.940321	0.94212	D	0.73800863941768	0.82122	7.685303	0.771504567377732	0.87752	9.332068	0.999999999978072	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	8.002000	0.88029	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	20.541	0.99263	763	0.50172	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	69.43	35	chr18	8085816	.	G	A	69.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.355;DP=399;ExcessHet=0;FS=50.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.964;SOR=5.993	GT:AD:DP:GQ:PL	0/1:62,19:81:81:81,0,1244	9	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	53060.1	364	chr18	9887397	.	C	*	53060.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.52;DP=4775;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=6;MLEAF=0.3;MQ=59.51;MQRankSum=-0.379;QD=15.12;ReadPosRankSum=-0.189;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:3,135:334:99:.:.:10606,5504,7375:.	4	0	6	0
chr18	14105212	14105213	CT	-	exonic	ZNF519	.	frameshift deletion	ZNF519:NM_145287:exon3:c.1327_1328del:p.R443Gfs*20	.	402	1098	20	1	1	23	0.00991885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.457e-05	0	0.0002	0.0001	0	9.314e-05	0	6.137e-05	6.47e-05	10	154602	rs763591495	6.19e-05	6.184e-05	5.602e-05	6.783e-05	0.0044	5.101e-05	4.757e-05	0.0030	0.0026	0	4.57e-05	0	0.0002	1.896e-05	0.0044	3.707e-05	0.0002	1.172e-05	4.097e-05	4.054e-05	5.348e-05	2.79e-05	0.0002	1.771e-05	1.166e-05	1.218e-05	6.38e-06	2.48e-05	0	0	0	0.0002	0	0	4.588e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002646	0.000000	0.004076	0.008197	0.000000	0.000000	0.000000	0.000000	0.05	1404.39	34	chr18	14105211	.	CCT	C	1404.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.111;DP=404;ExcessHet=0;FS=5.955;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=26.5;ReadPosRankSum=-1.445;SOR=0.339	GT:AD:DP:GQ:PL	0/1:18,35:53:99:1416,0,643	9	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	3102.99	249	chr18	14513679	.	T	G	3102.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.54;DP=1927;ExcessHet=10.3881;FS=9.616;InbreedingCoeff=-0.6668;MLEAC=8;MLEAF=0.4;MQ=51.26;MQRankSum=-8.212;QD=2.03;ReadPosRankSum=-3.641;SOR=1.694	GT:AD:DP:GQ:PL	0/1:145,38:183:99:613,0,3593	2	0	8	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1362.11	52	chr18	31541297	.	G	A	1362.11	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.721;DP=562;ExcessHet=7.0302;FS=370.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.35;ReadPosRankSum=1.53;SOR=10.577	GT:AD:DP:GQ:PL	0/1:29,26:55:99:195,0,427	1	0	7	2
chr18	33740124	33740124	A	G	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.A2720G:p.Y907C	Bainbridge-Ropers syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00891449092696	.	.	1.661e-05	0	0	0	0	3.007e-05	0	0	1.94e-05	3	154602	rs774221607	1.916e-05	1.915e-05	1.361e-05	2.476e-05	2.236e-05	1.329e-05	1.144e-05	1.377e-05	1.151e-05	0	2.236e-05	0	0	0	0	2.069e-05	6.626e-05	0	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	0	0.0022	0.0001	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.045	0.49390	D	0.99	0.63424	D	0.751	0.56062	P	0.470313	0.12286	N	0.750078	0.582011	0.32383	D	2.765	0.80766	M	2.31	0.16794	T	-1.98	0.45769	N	0.736	0.73645	-1.0207	0.23486	T	0.061	0.25310	T	10	0.09611717	0.17216	T	0.008914	0.23487	T	0.184	0.45763	0.181	0.08877	0.204265027416	0.20035	0.3980445626819343	0.39719	0.546768111876	0.51660	0.536405444145	0.43938	T	0.068721	0.33530	T	0.0309089	0.55845	T	-0.177892	0.56718	T	0.766619980335236	0.44238	D	0.814619	0.47860	T	0.1363653	0.31615	0.14405255	0.34213	0.1363653	0.31615	0.14405255	0.34212	-2.618	0.06641	T	0.3485020929316617	0.44587	0.104	0.20235	B	.;.	.;.	2.898375	0.38406	20.7	0.98971440804134503	0.49540	0.91594	0.53855	D	AEGBI	0.376586	0.46068	N	0.0932708860584661	0.46149	2.859792	0.0291301551460953	0.41073	2.461606	0.911927050707701	0.26380	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.07	4.89	0.63387	3.024000	0.49358	2.472000	0.32901	0.756000	0.94297	1.000000	0.71638	0.823000	0.27144	0.681000	0.33571	0.8758:0.0:0.0:0.1242	12.623	0.55971	530	0.73653	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1850.43	33	chr18	33740124	.	A	G	1850.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.939;DP=453;ExcessHet=0;FS=1.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.09;SOR=0.845	GT:AD:DP:GQ:PL	0/1:53,78:131:99:1862,0,1233	9	0	1	0
chr18	35479380	35479380	T	C	exonic	INO80C	.	nonsynonymous SNV	INO80C:NM_001308064:exon3:c.A134G:p.K45R,INO80C:NM_194281:exon3:c.A299G:p.K100R,INO80C:NM_001098817:exon5:c.A407G:p.K136R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0113544223427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.092	0.39954	T	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999985	0.81001	D	2.045	0.56016	M	.	.	.	-1.55	0.38540	N	0.544	0.67132	-0.3121	0.74646	T	0.388	0.74268	T	9	0.38185862	0.54253	T	0.011354	0.28886	T	0.191	0.46948	0.374	0.38667	0.299427821978	0.29548	0.3612907871531562	0.36043	0.380965989734	0.39459	0.729613721371	0.71450	T	0.020344	0.16033	T	0.0599204	0.59604	T	-0.151705	0.59093	T	0.931210219860077	0.59641	D	0.90251	0.65969	D	0.25804892	0.48852	0.26882803	0.52756	0.25804892	0.48852	0.26882803	0.52755	-3.876	0.35042	T	.	.	0.197	0.41873	B	.;.;.;.	.;.;.;.	4.000160	0.58941	24.0	0.9980758163564013	0.89174	0.93652	0.58806	D	ALL	0.942758	0.94774	D	0.590924995463966	0.72609	5.832526	0.631199344943575	0.77217	6.637071	0.999999999999998	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.58	5.58	0.84361	7.608000	0.82114	5.980000	0.52153	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.999	0.63937	814	0.42100	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2111.43	33	chr18	35479380	.	T	C	2111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.232;DP=464;ExcessHet=0;FS=8.832;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.478;SOR=0.292	GT:AD:DP:GQ:PL	0/1:65,89:154:99:2123,0,1677	9	0	1	0
chr18	36142283	36142283	T	G	exonic	ELP2	.	nonsynonymous SNV	ELP2:NM_001242877:exon6:c.T513G:p.F171L,ELP2:NM_001242878:exon6:c.T513G:p.F171L,ELP2:NM_001324468:exon6:c.T144G:p.F48L,ELP2:NM_001242876:exon7:c.T708G:p.F236L,ELP2:NM_001324465:exon7:c.T591G:p.F197L,ELP2:NM_001324466:exon7:c.T708G:p.F236L,ELP2:NM_001324467:exon7:c.T591G:p.F197L,ELP2:NM_018255:exon7:c.T591G:p.F197L,ELP2:NM_001242875:exon8:c.T786G:p.F262L	Mental retardation, autosomal recessive 58, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0713508645133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.43708	T	0.0	0.92824	D	0.177	0.29860	B	0.137	0.34953	B	0.000006	0.62929	D	0.110187	1	0.81001	D	1.435	0.35949	L	-0.03	0.63077	T	-4.49	0.78046	D	0.624	0.68603	-0.8318	0.53185	T	0.225	0.58932	T	10	0.79805803	0.79250	D	0.071351	0.71246	D	0.176	0.44373	0.792	0.91365	0.735530147054	0.73316	0.2806657595594459	0.27979	0.289761338798	0.31384	0.603861927986	0.53449	T	0.225378	0.59009	T	0.0303436	0.55769	T	-0.19419	0.55196	T	0.989435434341431	0.79671	D	0.865513	0.56452	D	0.2913573	0.52118	0.26689702	0.52541	0.2913573	0.52118	0.26689702	0.52540	-10.939	0.81331	D	0.2430607500841921	0.32923	0.901	0.85176	P	.;.;.;.;.;.	.;.;.;.;.;.	3.064650	0.41174	21.3	0.99764221175143764	0.85335	0.91552	0.53768	D	AEFBI	0.456307	0.50823	N	-0.0584432559306879	0.39226	2.309813	0.0501382868745135	0.42077	2.538915	0.999937062705154	0.46732	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.7	4.54	0.55220	3.523000	0.53243	4.165000	0.42235	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0797:0.0:0.9203	10.097	0.41653	956	0.09877	.;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	.	.	.	.	.	.	.	.	0.05	1447.43	37	chr18	36142283	.	T	G	1447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.521;DP=422;ExcessHet=0;FS=2.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.297;SOR=0.464	GT:AD:DP:GQ:PL	0/1:41,60:101:99:1459,0,880	9	0	1	0
chr18	54936933	54936933	G	A	exonic	CCDC68	.	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.C371T:p.A124V,CCDC68:NM_025214:exon6:c.C371T:p.A124V	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0223508631609	.	.	8.239e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs759606240	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	3.312e-05	4.638e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.152	0.32249	T	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.000000	0.99453	0.42318	D	2.78	0.81115	M	0.75	0.50192	T	-3.28	0.65627	D	0.392	0.43320	-0.5666	0.66150	T	0.309	0.67967	T	10	0.4467377	0.58444	T	0.022351	0.45230	T	0.226	0.52472	0.179	0.08626	0.564986160551	0.56162	0.40386311393440577	0.40302	0.186650198017	0.20973	0.450941056013	0.32073	T	0.036477	0.24118	T	-0.138292	0.30163	T	-0.254896	0.49333	T	0.886937763460279	0.53739	D	0.759324	0.38363	T	0.5604223	0.70533	0.5035192	0.71301	0.5604223	0.70534	0.5035192	0.71301	-5.328	0.40219	T	.	.	0.195	0.41977	B	.;.;.	.;.;.	4.262302	0.64784	24.7	0.99910604401030934	0.98022	0.92014	0.54755	D	AEFGBI	0.754317	0.69423	D	0.765463030623623	0.83906	8.142234	0.742897468423255	0.85625	8.63692	0.999999781496608	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	3.841000	0.55557	9.957000	0.82769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	16.736	0.85306	756	0.51065	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	774.43	34	chr18	54936933	.	G	A	774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.729;DP=391;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.464;SOR=0.891	GT:AD:DP:GQ:PL	0/1:39,33:72:99:786,0,981	9	0	1	0
chr18	68838844	68838844	C	T	exonic	CCDC102B	.	nonsynonymous SNV	CCDC102B:NM_024781:exon3:c.C745T:p.P249S,CCDC102B:NM_001093729:exon5:c.C745T:p.P249S	.	435	1083	4	0	0	4	0.00184332	.	.	.	2441771	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00784405730811	.	.	7.427e-05	0	0	0	0	3.002e-05	0	0.0004	5.82e-05	9	154602	rs754882534	3.694e-05	3.694e-05	1.77e-05	5.638e-05	0.0005	2.894e-05	2.592e-05	0.0004	0.0003	0	0	0	0	0	0	1.079e-05	1.656e-05	0.0005	1.973e-05	1.97e-05	0	4.039e-05	0.0004	5.25e-06	2.46e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.248	0.17239	T	0.564	0.18617	T	0.041	0.21357	B	0.029	0.21540	B	0.136802	0.18433	N	0.534747	1	0.08975	N	1.04	0.26193	L	1.56	0.29602	T	-1.41	0.34795	N	0.053	0.05287	-0.9788	0.35277	T	0.017	0.06998	T	10	0.04221627	0.02949	T	0.007844	0.20798	T	0.031	0.07369	0.386	0.40624	0.275641507738	0.27180	0.05977134354040572	0.05917	0.0220361217425	0.02206	0.23146250844	0.02078	T	0.002219	0.01623	T	-0.506871	0.00523	T	-0.649705	0.08975	T	0.0326493661223319	0.02414	T	0.691131	0.30052	T	0.042634614	0.06500	0.06708329	0.13829	0.042634614	0.06500	0.06708329	0.13828	-2.189	0.03987	T	.	.	0.141	0.31048	B	.;.;.	.;.;.	1.131309	0.15179	11.65	0.53052986083861731	0.04865	0.11663	0.16781	N	AEFGBCI	0.069051	0.13649	N	-1.02270634194803	0.08133	0.3803255	-0.994005665060109	0.09919	0.4963636	0.99991732232418	0.45857	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.61	1.71	0.23429	0.560000	0.23204	1.109000	0.24140	0.549000	0.26987	0.001000	0.13787	0.022000	0.20871	0.380000	0.26335	0.1472:0.4878:0.1279:0.2371	1.853	0.02980	990	0.01402	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	555.43	39	chr18	68838844	.	C	T	555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.606;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.178;SOR=0.623	GT:AD:DP:GQ:PL	0/1:35,24:59:99:567,0,838	9	0	1	0
chr19	617466	617466	A	G	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon20:c.T3596C:p.L1199S	.	427	1077	18	0	0	18	0.00828729	.	.	.	728450	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.056	.	0.0047	0.00319489	0.0061	0.0018	0.0059	0	0.0022	0.0090	0.0049	0.0028	0.0057826	894	154602	rs151287767	0.0077	0.0077	0.0078	0.0075	0.0130	0.0075	0.0075	0.0105	0.0096	0.0014	0.0068	0.0052	0	0.0032	0.0130	0.0087	0.0079	0.0033	0.0058	0.0059	0.0061	0.0055	0.0097	0.0055	0.0053	0.0085	0.0080	0.0014	0	0.0097	0.0049	0	0.0033	0.0136	0.0085	0.0109	0.0031	.	.	.	0.445	0.13140	T	0.003	0.11197	B	0.026	0.20792	B	0.000046	0.00387	N	9.009160	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.149	0.15187	-1.0240	0.22410	T	0.042	0.17952	T	10	0.0049084723	0.00105	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.4567661953493399	0.45594	0.0288100514737	0.02965	0.396012067795	0.24514	T	0.007223	0.06635	T	-0.60466	0.00136	T	-0.63408	0.10107	T	0.000821622846927263	0.00008	T	0.19908	0.02235	T	0.13238767	0.30827	0.1380573	0.32981	0.13238767	0.30827	0.1380573	0.32980	-2.29	0.04501	T	.	.	0.084	0.09868	B	.	.	0.119766	0.05175	1.692	0.31913970483794329	0.01823	0.00796	0.03248	N	AEFDGBHCI	0.015781	0.00318	N	-1.89541605862479	0.00351	0.01507178	-1.96734416740588	0.00358	0.01582588	0.898859477897704	0.26036	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	2.64	-5.27	0.02551	0.219000	0.17426	-0.050000	0.12557	-0.986000	0.01871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6335:0.0:0.2206:0.146	6.106	0.19293	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008081	0.005102	0.010870	0.014620	0.000000	0.000000	0.003067	0.003788	0.05	208.43	57	chr19	617466	.	A	G	208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.476;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=-0.181;SOR=0.793	GT:AD:DP:GQ:PL	0/1:21,9:30:99:220,0,693	9	0	1	0
chr19	804080	804080	G	A	exonic	PTBP1	.	nonsynonymous SNV	PTBP1:NM_002819:exon4:c.G160A:p.A54T,PTBP1:NM_031990:exon4:c.G160A:p.A54T,PTBP1:NM_031991:exon4:c.G160A:p.A54T	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0133249577241	0.0002	0.000599042	0.0004	0	0.0003	0	0	0.0003	0.0044	0.0015	0.000401	62	154602	rs140945539	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0017	0.0016	0.0002	0.0003	0.0002	0	0	0.0028	0.0003	0.0004	0.0020	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	9.626e-05	0	0.0004	0	0	0	0	0.0004	0.0014	0.0010	0.661	0.04685	T	0.749	0.55759	T	0.0	0.02946	B	0.0	0.04355	B	0.244093	0.15649	N	0.637948	1	0.19694	N	0.41	0.12415	N	0.98	0.76300	T	0.04	0.06488	N	0.061	0.10340	-1.0100	0.26917	T	0.027	0.11441	T	10	0.006631106	0.00246	T	0.013325	0.32631	T	0.008	0.00669	.	.	0.535086823406	0.53158	0.20850507075653904	0.20766	0.450773833729	0.44841	0.261978507042	0.05128	T	0.078103	0.35813	T	-0.574493	0.00208	T	-0.60526	0.12373	T	0.0154378628760949	0.00346	T	0.886911	0.78979	D	0.13256857	0.30865	0.04693348	0.06651	0.13256857	0.30865	0.04693348	0.06651	-4.213	0.26939	T	.	.	0.067	0.02861	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.391652	0.07630	4.297	0.60285721859604402	0.06427	0.27978	0.23427	N	AEFDBHCI	0.210636	0.33650	N	-1.60501465250336	0.01239	0.05392185	-1.66155470508485	0.01317	0.05943287	0.999999996834908	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.41	-7.53	0.01194	0.010000	0.13140	0.060000	0.14119	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3673:0.1367:0.3993:0.0968	2.859	0.05239	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	0.003525	0.000000	0.002717	0.005848	0.000000	0.008621	0.003049	0.003788	0.05	2529.43	33	chr19	804080	.	G	A	2529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=670;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.162;SOR=0.625	GT:AD:DP:GQ:PL	0/1:91,112:203:99:2541,0,2036	9	0	1	0
chr19	804613	804613	G	A	exonic	PTBP1	.	nonsynonymous SNV	PTBP1:NM_002819:exon6:c.G517A:p.A173T,PTBP1:NM_031990:exon6:c.G517A:p.A173T,PTBP1:NM_031991:exon6:c.G517A:p.A173T	.	418	1099	5	0	0	5	0.00226963	.	.	.	728499	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0155470771083	0.0016	0.00199681	0.0015	0.0009	0.0014	0.0007	0.0005	0.0012	0	0.0037	0.0012936	200	154602	rs150661031	0.0013	0.0013	0.0013	0.0014	0.0037	0.0013	0.0013	0.0034	0.0033	0.0005	0.0016	3.83e-05	0.0005	0.0007	0.0024	0.0012	0.0016	0.0037	0.0013	0.0013	0.0013	0.0013	0.0035	0.0012	0.0011	0.0022	0.0019	0.0007	0	0.0028	0	0.0008	0.0008	0	0.0014	0.0028	0.0035	0.611	0.05918	T	0.405	0.14771	T	0.005	0.15093	B	0.004	0.10090	B	0.000203	0.47681	N	0.185182	0.999884	0.81001	D	1.59	0.40313	L	0.89	0.78082	T	-0.38	0.16799	N	0.386	0.43610	-1.0802	0.07310	T	0.070	0.28577	T	10	0.008741975	0.00198	T	0.015547	0.36344	T	0.071	0.20720	.	.	0.649387415322	0.64647	0.36775442874402686	0.36689	0.452908181747	0.44994	0.551088869572	0.46011	T	0.103971	0.41311	T	-0.326055	0.06414	T	-0.243237	0.50481	T	0.00798985297716621	0.00094	T	0.881612	0.63503	D	0.08433749	0.19516	0.06541323	0.13253	0.08433749	0.19516	0.06541323	0.13252	-7.362	0.58353	T	.	.	0.080	0.22318	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.045508	0.40845	21.2	0.9613748780065573	0.28826	0.94186	0.60374	D	AEFDBHCI	0.318971	0.42251	N	-0.465473880726451	0.23219	1.245318	-0.347831135856457	0.26576	1.468855	0.999999672944588	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.81	4.81	0.61401	3.536000	0.53338	8.425000	0.77158	-0.108000	0.15293	0.997000	0.40164	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	16.906	0.85995	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	0	0	1	0	0.003024	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.007576	0.05	855.43	33	chr19	804613	.	G	A	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.856;DP=714;ExcessHet=0;FS=2.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.112;SOR=0.632	GT:AD:DP:GQ:PL	0/1:56,38:94:99:867,0,1295	9	0	1	0
chr19	7056494	7056494	C	T	exonic	MBD3L3	.	nonsynonymous SNV	MBD3L3:NM_001164425:exon2:c.G455A:p.G152E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000539388683999	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343504458	3.276e-06	6.361e-06	7.178e-06	0	4.863e-05	5.5e-07	2e-07	8.06e-06	3.01e-06	0	4.863e-05	0	0	0	0	0	0	0	6.578e-06	6.567e-06	1.286e-05	0	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.215	0.03996	N	.	.	.	2.18	0.00332	N	0.137	0.13484	-0.9919	0.32115	T	0.031	0.13504	T	5	0.05543104	0.06057	T	5.39E-4	0.00196	T	0.042	0.11227	0.201	0.11522	0.0401082797425	0.02173	0.08539423979111213	0.08473	2.35881551398	0.96850	0.514297127724	0.40824	T	0.004363	0.03768	T	-0.316575	0.07183	T	-0.692514	0.06245	T	0.0598464784453847	0.07144	T	0.50435	0.15896	T	0.0658236	0.14106	0.10573925	0.25424	0.0658236	0.14106	0.10573925	0.25424	-3.882	0.22032	T	.	.	0.094	0.14431	B	.	.	-0.055069	0.03916	0.865	0.79399228381151099	0.12724	0.00151	0.00912	N	AEFI	0.030117	0.02969	N	-1.06501342529025	0.07296	0.3385065	-1.21870207145886	0.05610	0.2677609	1.20879728309131E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.292	0.292	0.14987	0.172000	0.16518	-1.238000	0.05941	0.206000	0.17947	0.001000	0.13787	0.000000	0.08366	0.129000	0.19529	.	.	.	952	0.10565	Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	134.43	34	chr19	7056494	.	C	T	134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.27;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.3;MQRankSum=0.44;QD=1.49;ReadPosRankSum=-2.209;SOR=0.773	GT:AD:DP:GQ:PL	0/1:78,12:90:99:146,0,1959	9	0	1	0
chr19	8366293	8366293	C	T	exonic	ANGPTL4	.	nonsynonymous SNV	ANGPTL4:NM_001039667:exon3:c.C521T:p.P174L,ANGPTL4:NM_139314:exon3:c.C521T:p.P174L	Plasma triglyceride level QTL, low, Autosomal dominant	414	1097	10	1	0	12	0.00543971	.	.	.	2238822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0149133322065	.	0.000199681	0.0003	0	0.0003	0.0001	0	4.524e-05	0.0011	0.0014	0.000207	32	154602	rs533599788	0.0001	0.0001	8.713e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	0.0002	0	5.038e-05	0	0.0007	3.327e-05	0.0002	0.0013	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0004	2.108e-05	1.526e-05	7.31e-05	3.036e-05	0	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0004	0.401	0.10447	T	0.199	0.27679	T	0.005	0.12996	B	0.002	0.06944	B	0.246194	0.03616	N	1.531500	1	0.08975	N	1.185	0.30054	L	0.61	0.55439	T	-0.65	0.20358	N	0.217	0.24260	-1.0447	0.15913	T	0.094	0.35631	T	10	0.011360824	0.00249	T	0.014913	0.35329	T	0.021	0.04004	.	.	0.498705051145	0.49506	0.38831998144325564	0.38746	0.198025470267	0.22181	0.253936111927	0.04194	T	0.04107	0.25738	T	-0.582513	0.00186	T	-0.644894	0.09315	T	0.00671661183022176	0.00075	T	0.581242	0.21054	T	0.024967367	0.01382	0.027465342	0.00901	0.024967367	0.01382	0.027465342	0.00901	-3.404	0.19067	T	.	.	0.064	0.03026	B	.;.	.;.	-0.223972	0.02971	0.442	0.43929190638016752	0.03342	0.05610	0.11516	N	AEFDBHCI	0.236161	0.35865	N	-1.31637936465698	0.03487	0.1558593	-1.32129358580669	0.04156	0.1954131	0.999998903670004	0.74766	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.655142	0.61905	0	.	.	4.19	0.861	0.18186	-0.450000	0.06877	.	.	-1.690000	0.00773	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.678:0.0:0.322	6.294	0.20283	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	1	0	0	1	0	0	0	0.002018	0.000000	0.001359	0.002924	0.000000	0.000000	0.006173	0.000000	0.05	1065.43	41	chr19	8366293	.	C	T	1065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=441;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.045;SOR=0.572	GT:AD:DP:GQ:PL	0/1:75,46:121:99:1077,0,1770	9	0	1	0
chr19	8550318	8550318	C	T	exonic	MYO1F	.	nonsynonymous SNV	MYO1F:NM_001348355:exon10:c.G931A:p.G311R,MYO1F:NM_012335:exon10:c.G943A:p.G315R	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.211646175916	8e-05	.	0.0002	0.0001	0.0004	0.0005	0	0.0001	0	0.0002	0.0001682	26	154602	rs372083345	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	8.966e-05	0.0004	0	0.0002	0	0.0047	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.711e-05	0.0002	8.375e-05	4.81e-05	0	0.0001	0	0.0006	0	0.0034	0.0002	0.0009	0.0004	0.333	0.13003	T	0.41	0.14544	T	0.489	0.36925	P	0.133	0.33073	B	0.285886	0.14858	N	0.669254	0.962979	0.26044	N	1.59	0.40313	L	-3.64	0.95145	D	-1.03	0.27052	N	0.207	0.22998	-0.1541	0.78815	T	0.691	0.89342	D	10	0.10761917	0.19997	T	0.211646	0.87315	D	0.280	0.59740	0.441	0.49648	0.848643455395	0.84719	0.4089715755658112	0.40813	0.715634832544	0.61964	0.403786063194	0.25596	T	0.421795	0.77308	T	-0.128765	0.31697	T	-0.121017	0.61720	T	0.0281013088045631	0.01703	T	0.69663	0.30630	T	0.0485345	0.08476	0.060151204	0.11409	0.0485345	0.08476	0.060151204	0.11409	-8.472	0.64244	D	.	.	0.115	0.23113	B	.;.;.	.;.;.	2.350253	0.30131	18.34	0.99010852296665242	0.50356	0.12221	0.17135	N	AEFBI	0.162640	0.28884	N	-0.488469292343104	0.22458	1.199334	-0.506897719047823	0.21965	1.190787	4.69699127710005E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.14	3.02	0.33970	0.441000	0.21325	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.0:0.8416:0.0:0.1584	10.419	0.43523	624	0.65661	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.005102	0.002717	0.014620	0.000000	0.008621	0.000000	0.000000	0.05	913.43	36	chr19	8550318	.	C	T	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.13;DP=372;ExcessHet=0;FS=2.652;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.03;ReadPosRankSum=0.401;SOR=0.943	GT:AD:DP:GQ:PL	0/1:15,33:48:99:925,0,255	9	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	74.97	385	chr19	8888826	.	T	*	74.97	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.96;DP=3805;ExcessHet=15.1594;FS=9.58;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=57.53;MQRankSum=-10.06;QD=0.02;ReadPosRankSum=1.04;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:209,79:347:99:.:.:2774,0,8518:.	2	0	8	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	1508.95	40	chr19	8900017	.	C	G	1508.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.689;DP=2342;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.88;MQRankSum=-15.15;QD=0.85;ReadPosRankSum=1.45;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,16:192:99:0|1:8900009_C_T:142,0,7342:8900009	3	0	7	0
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T	.	426	1063	32	1	0	34	0.0157407	.	.	YES	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	38.43	113	chr19	8906310	.	C	G	38.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=554;ExcessHet=0;FS=2.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.81;MQRankSum=-11.47;QD=0.29;ReadPosRankSum=-3.688;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,10:133:50:0|1:8906306_G_A:50,0,5135:8906306	9	0	1	0
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	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	.	.	.	.	.	.	.	.	0.05	53.43	139	chr19	8906323	.	G	A	53.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.871;DP=787;ExcessHet=0;FS=2.558;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.03;MQRankSum=-11.73;QD=0.37;ReadPosRankSum=-1.767;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,11:143:65:0|1:8906306_G_A:65,0,5510:8906306	9	0	1	0
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	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	.	.	.	.	.	.	.	.	0.05	53.49	142	chr19	8906325	.	A	C	53.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.681;DP=794;ExcessHet=0;FS=2.542;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.05;MQ=59.01;MQRankSum=-11.86;QD=0.37;ReadPosRankSum=-1.469;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,11:143:65:0|1:8906306_G_A:65,0,5510:8906306	9	0	1	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	137.43	138	chr19	8906329	.	A	G	137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.765;DP=797;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=58.87;MQRankSum=-11.86;QD=0.95;ReadPosRankSum=-0.988;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,13:145:99:0|1:8906306_G_A:149,0,5504:8906306	9	0	1	0
chr19	8958661	8958661	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G18109A:p.G6037R	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000579492234173	.	.	4.974e-05	0	0	0	0	2.999e-05	0	0.0002	3.88e-05	6	154602	rs771448044	4.995e-05	4.994e-05	4.22e-05	5.777e-05	0.0003	4.059e-05	3.734e-05	0.0002	0.0002	8.962e-05	2.237e-05	0	2.52e-05	0	0.0002	3.508e-05	8.282e-05	0.0003	4.6e-05	4.594e-05	2.572e-05	6.721e-05	0.0008	2.11e-05	1.527e-05	0.0003	0.0002	2.408e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0008	0.01	0.56456	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.94	0.22678	T	-1.26	0.31778	N	0.073	0.04668	-1.0279	0.21136	T	0.023	0.09923	T	8	0.05082473	0.04872	T	5.79E-4	0.00246	T	0.024	0.04979	0.182	0.09004	0.0884992946249	0.08302	0.037956854412596115	0.03741	.	.	0.181066870689	0.00104	T	.	.	.	-0.494026	0.00618	T	-0.687732	0.06521	T	0.0186468182197877	0.00578	T	0.267673	0.04439	T	.	.	.	.	.	.	.	.	-2.113	0.03640	T	.	.	0.074	0.05231	B	.	.	0.254544	0.06335	2.796	0.17751909371551683	0.00530	0.00075	0.00520	N	AEFGBI	0.013440	0.00178	N	-1.63652966738656	0.01093	0.04744405	-1.72245048183275	0.01042	0.04673543	0.00168891622618524	0.08780	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.22	-2.44	0.06126	-0.995000	0.03823	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6308:0.0:0.3692	6.293	0.20279	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2102.43	99	chr19	8958661	.	C	T	2102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.6;DP=1133;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.6;SOR=0.676	GT:AD:DP:GQ:PL	0/1:68,76:144:99:2114,0,1549	9	0	1	0
chr19	9126601	9126601	A	T	exonic	OR7G3	.	nonsynonymous SNV	OR7G3:NM_001001958:exon1:c.T350A:p.M117K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00235854071747	.	0.000599042	0.0003	9.61e-05	0	0	0	0	0	0.0021	0.0002652	41	154602	rs530415844	0.0001	0.0001	7.895e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0.0005	1.529e-05	0.0001	0.0019	6.567e-05	6.562e-05	2.57e-05	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	0.0	0.91255	D	0.0	0.92824	D	0.32	0.32998	B	0.045	0.24526	B	0.090127	0.20391	U	0.350596	1	0.08975	N	1.845	0.48678	L	4.08	0.03003	T	-2.51	0.54546	D	0.409	0.44952	-1.0046	0.28577	T	0.009	0.03403	T	10	0.018099695	0.00391	T	0.002359	0.04590	T	0.104	0.29647	0.518	0.61915	0.195762928549	0.19159	0.44183708574283975	0.44100	0.137836223077	0.15542	0.217940568924	0.01194	T	0.01383	0.11891	T	-0.472854	0.00816	T	-0.457547	0.26868	T	0.0765630749412029	0.09542	T	0.920508	0.71260	D	0.9285215	0.94089	0.83281976	0.90369	0.9285215	0.94090	0.83281976	0.90369	-7.348	0.56536	T	.	.	0.290	0.52210	B	.	.	1.769411	0.22502	15.65	0.72284575861056688	0.09920	0.11947	0.16963	N	AEFBI	0.067119	0.13179	N	-1.07358739207392	0.07133	0.3304537	-1.19577202690455	0.05980	0.2865036	2.91341718143256E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.96	-2.01	0.07003	0.339000	0.19617	.	.	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.5693:0.0:0.4307:0.0	9.491	0.38125	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2164.43	36	chr19	9126601	.	A	T	2164.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.83;DP=781;ExcessHet=0;FS=4.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.501;SOR=1.041	GT:AD:DP:GQ:PL	0/1:93,79:172:99:2176,0,2235	9	0	1	0
chr19	11949256	11949256	T	G	exonic	ZNF700	.	nonsynonymous SNV	ZNF700:NM_001271848:exon4:c.T1241G:p.I414S,ZNF700:NM_144566:exon4:c.T1232G:p.I411S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00295440193811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.15406	T	0.072	0.43344	T	0.202	0.29746	B	0.122	0.32387	B	.	.	.	.	0.999999	0.25037	N	0.885	0.21608	L	3.03	0.08898	T	-0.19	0.09965	N	0.233	0.26233	-0.9746	0.36213	T	0.015	0.05994	T	9	0.09279549	0.16369	T	0.002954	0.06280	T	0.076	0.22200	0.569	0.69167	0.0551355673512	0.04727	0.01697358492499179	0.01652	0.0110904619344	0.01030	0.354834079742	0.18631	T	0.006371	0.05804	T	-0.295149	0.09126	T	-0.661738	0.08150	T	0.0918844201735657	0.11439	T	0.060394	0.00444	T	0.043982346	0.06951	0.049046073	0.07414	0.043982346	0.06950	0.049046073	0.07414	-4.272	0.27783	T	.	.	0.397	0.66012	A	.;.;.	.;.;.	-0.007791	0.04228	1.039	0.7109500214402954	0.09513	0.00000	0.00017	N	AEFDBHCI	0.022704	0.01168	N	-1.38489915699074	0.02779	0.1231968	-1.53222494551938	0.02101	0.09611428	0.0206977468918727	0.13282	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	0.672	-1.34	0.08665	-0.648000	0.05489	.	.	-0.417000	0.05242	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.1756:0.2247:0.5997	3.457	0.07087	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1312.43	38	chr19	11949256	.	T	G	1312.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.757;DP=449;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.348;SOR=0.781	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1324,0,1833	9	0	1	0
chr19	15934266	15934266	A	T	exonic	CYP4F11	.	nonsynonymous SNV	CYP4F11:NM_021187:exon1:c.T143A:p.L48H,CYP4F11:NM_001128932:exon2:c.T143A:p.L48H	.	408	1080	31	3	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	.	0.0028	0.00299521	0.0046	0.0006	0.0018	0	0.0006	0.0044	0.0099	0.0135	0.0041979	649	154602	rs144570608	0.0046	0.0046	0.0042	0.0050	0.0144	0.0045	0.0044	0.0132	0.0129	0.0007	0.0019	0.0031	2.519e-05	0.0007	0.0144	0.0044	0.0052	0.0138	0.0029	0.0030	0.0031	0.0028	0.0108	0.0027	0.0026	0.0085	0.0076	0.0008	0.0055	0.0021	0.0038	0	0.0005	0.0137	0.0044	0.0024	0.0108	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.036421	0.24525	U	0.316936	1	0.08975	N	3.755	0.95055	H	-4.34	0.97267	D	-5.28	0.88839	D	0.526	0.55540	0.437	0.89649	D	0.876	0.95898	D	10	0.005805701	0.00130	T	.	.	.	0.346	0.66769	.	.	0.542187413537	0.53871	0.7430607826194562	0.74252	0.220839230322	0.24634	0.446682691574	0.31490	T	0.428567	0.77766	T	-0.13998	0.29893	T	0.0253141	0.71974	D	0.119659566035645	0.14397	T	0.911709	0.68863	D	0.23202594	0.45984	0.27280214	0.53194	0.23202594	0.45984	0.27280214	0.53193	-14.393	0.94264	D	.	.	0.622	0.69767	P	.;.;.;.	.;.;.;.	3.131093	0.42311	21.5	0.97493538681267755	0.34256	0.34168	0.25003	N	AEFDBCI	0.268574	0.38504	N	-0.0686690424743155	0.38772	2.276047	-0.331987048678435	0.27071	1.499678	0.998000120437217	0.36301	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.18	1.15	0.19876	2.134000	0.41725	.	.	0.584000	0.30380	0.017000	0.19353	1.000000	0.68203	0.001000	0.02609	0.8435:0.0:0.1565:0.0	5.460	0.15909	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.004076	0.014620	0.000000	0.017241	0.015244	0.007576	0.05	1068.43	46	chr19	15934266	.	A	T	1068.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.282;DP=454;ExcessHet=0;FS=2.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-0.877;SOR=0.651	GT:AD:DP:GQ:PL	0/1:82,50:132:99:1080,0,2071	9	0	1	0
chr19	17011679	17011679	G	A	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon4:c.C346T:p.H116Y	Anterior segement dysgenesis 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3650943	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.167	0.00520946136751	.	.	4.179e-05	0	8.66e-05	0	0	6.072e-05	0	0	3.88e-05	6	154602	rs779986442	4.242e-05	4.241e-05	4.084e-05	4.401e-05	0.0002	3.377e-05	3.065e-05	3.631e-05	3.288e-05	0	4.472e-05	3.826e-05	0	0	0.0002	4.676e-05	3.313e-05	4.638e-05	3.939e-05	3.937e-05	3.854e-05	4.028e-05	7.35e-05	1.714e-05	1.129e-05	2.846e-05	1.858e-05	0	0	6.539e-05	0	0	0	0	7.35e-05	0	0	0.218	0.19090	T	0.11	0.74150	T	.	.	.	.	.	.	0.000005	0.62929	U	0.000000	0.822882	0.36530	D	.	.	.	1.4	0.52642	T	-1.44	0.35399	N	0.418	0.47857	-0.9934	0.31722	T	0.093	0.35390	T	10	0.33098286	0.50327	T	0.005209	0.13279	T	0.167	0.42761	.	.	0.433936292671	0.43013	.	.	0.213971234726	0.23928	0.726978182793	0.71065	T	0.022758	0.17490	T	-0.189665	0.22308	T	-0.324314	0.42100	T	0.219379335641861	0.21433	T	0.740526	0.35940	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.998378	0.25390	16.74	0.99188204616090547	0.54906	0.91123	0.52905	D	AEFDBI	0.809672	0.73312	D	-0.3190085812801	0.28426	1.567805	-0.21704035084649	0.30924	1.745487	0.992412850232678	0.32831	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.06	3.06	0.34374	6.051000	0.70697	2.631000	0.33693	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.0:1.0:0.0	13.063	0.58426	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	.	.	.	.	.	.	.	.	0.05	724.43	33	chr19	17011679	.	G	A	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.244;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.69;MQRankSum=1.63;QD=10.06;ReadPosRankSum=0.961;SOR=0.702	GT:AD:DP:GQ:PL	0/1:39,33:72:99:736,0,998	9	0	1	0
chr19	17286680	17286680	G	T	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_001278444:exon8:c.G1759T:p.V587L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00928099929901	.	.	0	0	0	0	0	0	0	0	0.0003074	8	26028	rs760441656	0.0002	0.0014	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0003	0.0003	0.0001	0.0001	0	5.428e-05	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	9.116e-05	0.0005	0.0004	0.0007	0	0	0	0	0	0	1.978e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	310.58	58	chr19	17286680	.	G	T	310.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=532;ExcessHet=0.2348;FS=8.115;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=4;SOR=0.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,13:45:99:.:.:322,0,1193:.	9	0	1	0
chr19	17286684	17286692	GTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	522	639	135	2	224	363	0.0980946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	141.87	58	chr19	17286684	.	GTGTGTGTT	*	141.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.893;DP=543;ExcessHet=1.5895;FS=10.81;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.96;SOR=0.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,13:45:99:.:.:322,0,1193:.	7	0	3	0
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	361.99	58	chr19	17286686	.	GTGTGTT	*	361.99	.	AC=4;AF=0.2;AN=20;DP=541;ExcessHet=0.2065;FS=5.819;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=2.46;SOR=0.337	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,13:45:99:.:.:322,0,1193:.	6	0	4	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	292.77	55	chr19	17286688	.	GTGTT	*	292.77	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.579;DP=553;ExcessHet=2.8549;FS=4.441;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.28;SOR=0.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,13:45:99:.:.:322,0,1193:.	6	1	3	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1361.57	55	chr19	17286690	.	GTT	*	1361.57	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.542;DP=552;ExcessHet=5.1594;FS=4.31;InbreedingCoeff=-0.4141;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=2;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,17:32:99:.:.:464,0,884:.	6	1	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4100.81	50	chr19	17286692	.	T	*	4100.81	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.268;DP=564;ExcessHet=0.2348;FS=4.99;InbreedingCoeff=-0.1111;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.42;SOR=1.13	GT:AD:DP:GQ:PL	0/1:2,19:30:99:1512,322,244	2	1	7	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	0.15	2907.45	75	chr19	19635648	.	G	T	2907.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.926;DP=514;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.916;SOR=0.711	GT:AD:DP:GQ:PL	0/1:49,38:87:99:896,0,1182	7	0	3	0
chr19	19892100	19892100	A	C	exonic	ZNF253	.	nonsynonymous SNV	ZNF253:NM_001331134:exon2:c.A625C:p.K209Q,ZNF253:NM_001331133:exon3:c.A661C:p.K221Q,ZNF253:NM_021047:exon4:c.A853C:p.K285Q	.	428	1087	5	2	0	9	0.00412277	.	.	.	2397650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00567467081579	.	0.000199681	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0011	0.000194	30	154602	rs187512338	0.0001	0.0001	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	5.974e-05	8.946e-05	0	0	0	0.0035	3.237e-05	0.0002	0.0016	0.0001	0.0001	6.424e-05	0.0002	0.0014	7.085e-05	5.742e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0.0102	7.35e-05	0.0005	0.0014	.	.	.	0.048	0.52060	D	0.935	0.52277	P	0.545	0.49043	P	.	.	.	.	1	0.08975	N	1.655	0.42436	L	0.38	0.57575	T	.	.	.	0.075	0.05799	-1.0332	0.19427	T	0.090	0.34683	T	7	0.015888035	0.00334	T	0.005675	0.14681	T	0.024	0.04979	.	.	0.173771789658	0.16945	0.007938133792926001	0.00758	0.543497612951	0.51426	0.320516884327	0.13500	T	0.188357	0.54224	T	-0.546321	0.00307	T	-0.592907	0.13415	T	0.0741419968192751	0.09221	T	0.030397	0.00190	T	0.27340212	0.50407	0.13585807	0.32517	0.27340212	0.50407	0.13585807	0.32517	-7.203	0.55503	T	.	.	0.194	0.41480	B	.;.	.;.	2.239256	0.28593	17.85	0.88696181030245036	0.18182	0.00013	0.00170	N	AEFBHCI	0.021877	0.01026	N	-0.656725849229931	0.17265	0.8869186	-0.907151032703557	0.11925	0.6104944	0.00190466313171431	0.08993	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	0.876	0.876	0.18274	-0.635000	0.05568	.	.	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.6686:0.0:0.3314:0.0	2.921	0.05416	940	0.13648	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	0.001057	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1168.43	36	chr19	19892100	.	A	C	1168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.914;DP=439;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-1.374;SOR=0.808	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1180,0,1722	9	0	1	0
chr19	20949647	20949647	C	G	exonic	ZNF85	.	nonsynonymous SNV	ZNF85:NM_001256173:exon3:c.C941G:p.A314G,ZNF85:NM_003429:exon4:c.C1133G:p.A378G,ZNF85:NM_001256171:exon5:c.C1223G:p.A408G	.	375	1136	11	0	0	11	0.00481822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00126973633422	0.0005	0.000399361	0.0006	0	0.0003	0	0	0.0005	0.0011	0.0020	0.0005239	81	154602	rs146063134	0.0004	0.0004	0.0003	0.0005	0.0023	0.0004	0.0004	0.0020	0.0019	6.012e-05	0.0001	0	0	1.876e-05	0.0014	0.0003	0.0004	0.0023	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	4.816e-05	0.0351	6.545e-05	0	0	9.446e-05	0	0.0005	0	0.0015	0.047	0.40319	D	0.042	0.52060	D	0.898	0.49442	P	0.808	0.58514	P	.	.	.	.	0.992349	0.23897	N	1.115	0.28702	L	2.13	0.19588	T	-2.66	0.62151	D	0.069	0.13626	-1.0873	0.05995	T	0.079	0.31254	T	9	0.023931056	0.00642	T	0.00127	0.01733	T	0.069	0.20116	.	.	0.274366138417	0.27033	0.004797676925637488	0.00451	0.00488180606936	0.00433	0.262346506119	0.05173	T	0.064196	0.32372	T	-0.645892	0.00077	T	-0.706723	0.05466	T	0.0237080765646791	0.01109	T	0.461354	0.13375	T	0.15592387	0.35214	0.1766237	0.40209	0.15592387	0.35213	0.1766237	0.40209	-6.406	0.49634	T	.	.	0.146	0.32324	B	.;.;.	.;.;.	1.320891	0.17251	13.05	0.97586435889627676	0.34764	0.02057	0.06141	N	AEFBCI	.	.	.	-0.513198518143494	0.21652	1.150691	-0.735954771581635	0.16068	0.8482777	1.09068303503754E-5	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	1.35	1.35	0.21078	-0.190000	0.09612	.	.	0.493000	0.22426	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.4775:0.5225:0.0	6.830	0.23090	988	0.01987	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	0.002125	0.000000	0.000000	0.008264	0.000000	0.000000	0.003106	0.003788	0.05	706.43	68	chr19	20949647	.	C	G	706.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.895;DP=456;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.207;SOR=0.892	GT:AD:DP:GQ:PL	0/1:35,32:67:99:718,0,865	9	0	1	0
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2025.92	50	chr19	21383393	.	G	*	2025.92	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.512;DP=557;ExcessHet=10.3881;FS=1.769;InbreedingCoeff=-0.6667;MLEAC=3;MLEAF=0.15;MQ=59.92;MQRankSum=0;QD=4.73;ReadPosRankSum=-0.219;SOR=0.6	GT:AD:DP:GQ:PL	0/1:34,15:49:99:528,0,1357	7	0	3	0
chr19	21808895	21808895	C	T	exonic	ZNF43	.	nonsynonymous SNV	ZNF43:NM_001256651:exon3:c.G947A:p.R316Q,ZNF43:NM_001256654:exon3:c.G947A:p.R316Q,ZNF43:NM_001256653:exon4:c.G1169A:p.R390Q,ZNF43:NM_003423:exon4:c.G1142A:p.R381Q,ZNF43:NM_001256650:exon6:c.G1124A:p.R375Q,ZNF43:NM_001256648:exon7:c.G1124A:p.R375Q,ZNF43:NM_001256649:exon7:c.G1124A:p.R375Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000970814847618	7.7e-05	0.000199681	4.128e-05	9.707e-05	0	0	0	6.004e-05	0	0	5.82e-05	9	154602	rs185493878	4.584e-05	4.72e-05	5.174e-05	3.988e-05	0.0002	3.662e-05	3.348e-05	4.092e-05	3.742e-05	2.988e-05	2.236e-05	0	0.0001	0	0.0002	5.217e-05	3.313e-05	0	4.002e-05	5.291e-05	3.906e-05	4.104e-05	7.371e-05	1.737e-05	1.144e-05	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	4.441e-05	0	0	0.825	0.02921	T	1.0	0.01155	T	0.041	0.21357	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.225	0.03956	N	3.19	0.07353	T	-0.19	0.09965	N	0.058	0.03613	-0.9253	0.44815	T	0.007	0.02518	T	9	0.033709824	0.01555	T	9.71E-4	0.01003	T	0.011	0.01250	.	.	0.193865811164	0.18958	0.00888841779710105	0.00851	0.0253099499521	0.02582	0.258942961693	0.04766	T	0.022673	0.17437	T	-0.510352	0.00500	T	-0.789334	0.02183	T	0.0282589742835046	0.01727	T	0.0342966	0.00229	T	0.018707262	0.00393	0.029916361	0.01383	0.018707262	0.00393	0.029916361	0.01383	-4.112	0.25481	T	.	.	0.12	0.31100	B	.;.;.;.;.	.;.;.;.;.	0.119688	0.05175	1.691	0.58500280611248889	0.06007	0.00000	0.00017	N	AEFBHCI	0.012528	0.00139	N	-1.62774167285205	0.01132	0.04918485	-1.69064715971469	0.01179	0.05306784	4.34651278043083E-4	0.06970	0.553676	0.25195	0	0.588015	0.36545	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	1.68	-2.26	0.06478	-7.176000	0.00053	.	.	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1539:0.4012:0.4449	4.043	0.09242	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;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	.	.	.	.	.	.	.	.	0.05	1384.43	35	chr19	21808895	.	C	T	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.509;DP=450;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.87;MQRankSum=1.06;QD=12.25;ReadPosRankSum=1.27;SOR=0.66	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1396,0,1192	9	0	1	0
chr19	23146120	23146120	-	GAT	exonic	ZNF730	.	nonframeshift insertion	ZNF730:NM_001277403:exon4:c.1076_1077insGAT:p.K359_I360insM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.744e-06	2.738e-06	2.731e-06	2.758e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.703e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	703.39	77	chr19	23146120	.	A	AGAT	703.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-1.209;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,19:42:99:0|1:23146120_A_AGAT:715,0,909:23146120	9	0	1	0
chr19	23827184	23827184	T	-	exonic	RPSAP58	.	frameshift deletion	RPSAP58:NM_001355283:exon4:c.23delT:p.L8Rfs*3,RPSAP58:NM_001355287:exon5:c.23delT:p.L8Rfs*3	.	50	1471	1	0	0	1	0.000339789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.851e-06	2.834e-06	2.527e-06	6.996e-06	1.763e-06	1.14e-06	7.7e-07	.	.	0	0	0	0	0	0	1.763e-06	7.608e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	53.55	7	chr19	23827183	.	CT	C	53.55	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=70;ExcessHet=0;FS=0;InbreedingCoeff=-0.0662;MLEAC=1;MLEAF=0.05;MQ=24;MQRankSum=0;QD=10.71;ReadPosRankSum=-1.036;SOR=0.446	GT:AD:DP:GQ:PL	0/1:3,2:5:65:65,0,106	9	0	1	0
chr19	23932577	23932584	TTTATAAA	-	exonic	ZNF726	.	frameshift deletion	ZNF726:NM_001244038:exon4:c.461_468del:p.I158Kfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.383e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs760287729	4.26e-06	5.475e-06	2.822e-06	5.718e-06	5.429e-05	1.53e-06	1.01e-06	8.99e-06	3.36e-06	0	5.429e-05	0	0	0	0	3.679e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	889.09	38	chr19	23932576	.	TTTTATAAA	T	889.09	.	AC=2;AF=0.1;AN=20;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=0.997;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.62;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,21:21:64:912,64,0	9	1	0	0
chr19	33812913	33812913	A	G	exonic	KCTD15	.	nonsynonymous SNV	KCTD15:NM_001129994:exon7:c.A817G:p.T273A,KCTD15:NM_001129995:exon7:c.A817G:p.T273A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.011009075441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.147e-06	2.052e-06	2.824e-06	1.451e-06	3.167e-05	5.7e-07	1.6e-07	3.1e-07	1.2e-07	3.167e-05	0	0	0	0	0	1.854e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.195	0.28032	T	0.007	0.14184	B	0.002	0.06944	B	.	.	.	.	0.999976	0.81001	D	1.59	0.40313	L	0.96	0.42888	T	-0.65	0.18877	N	0.418	0.46274	-1.0770	0.07942	T	0.083	0.32585	T	9	0.16162735	0.30311	T	0.011009	0.28187	T	0.195	0.47612	0.103	0.01643	0.597924155889	0.59472	0.28581171971769487	0.28494	0.61528847301	0.56016	0.534117937088	0.43615	T	0.025462	0.19037	T	-0.0552289	0.43647	T	-0.317109	0.42889	T	0.609166324138641	0.36767	D	0.524548	0.17205	T	0.066633336	0.14355	0.07921968	0.17815	0.066633336	0.14355	0.07921968	0.17815	-3.007	0.10256	T	.	.	0.052	0.00243	B	.;.;.	.;.;.	1.982157	0.25182	16.67	0.99092719787411421	0.52247	0.97794	0.77181	D	AEFDBCI	0.702373	0.65877	D	-0.0952213137572732	0.37601	2.189985	0.0898613728953346	0.44038	2.693292	0.999983343034474	0.51787	0.650006	0.45971	0	0.547309	0.14657	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.72	5.72	0.89380	5.380000	0.65953	6.162000	0.54356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	1.0:0.0:0.0:0.0	15.197	0.72782	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1051.43	33	chr19	33812913	.	A	G	1051.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.111;DP=397;ExcessHet=0;FS=11.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-1.989;SOR=1.435	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1063,0,961	9	0	1	0
chr19	35806769	35806769	G	A	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378293:exon6:c.C740T:p.A247V,PRODH2:NM_021232:exon6:c.C740T:p.A247V	.	411	1086	25	0	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.0848196410209	0.0018	0.00199681	0.0018	0.0003	0.0014	0.0003	0	0.0023	0	0.0028	0.0014942	231	154602	rs148996461	0.0013	0.0013	0.0012	0.0013	0.0182	0.0012	0.0012	0.0153	0.0143	0.0003	0.0016	0.0149	0.0001	9.379e-05	0.0182	0.0008	0.0023	0.0028	0.0015	0.0015	0.0016	0.0015	0.0048	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0048	0.0150	0	0	0.0170	0.0010	0.0047	0.0035	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.886	0.62898	P	.	.	.	.	0.999999	0.58761	D	.	.	.	1.28	0.35960	T	-3.41	0.67129	D	0.527	0.55626	-0.5622	0.66320	T	0.185	0.53361	T	9	0.024158657	0.00655	T	0.08482	0.74405	D	0.433	0.73879	.	.	0.495038369364	0.49138	0.917729499040338	0.91747	0.592755175315	0.54650	0.541399598122	0.44643	T	0.629359	0.88493	D	-0.228277	0.16878	T	-0.104672	0.63032	T	0.0630171359686066	0.07634	T	0.80292	0.44963	T	0.27929047	0.50980	0.3533046	0.60894	0.27929047	0.50979	0.3533046	0.60894	-7.737	0.59264	D	.	.	0.150	0.33179	B	.	.	4.528629	0.71068	25.6	0.99937806449776112	0.99698	0.96758	0.70782	D	AEFDBI	0.928981	0.91404	D	0.694588966654963	0.79276	7.044066	0.587258987438839	0.74024	6.06752	0.999999205579871	0.74766	0.55562	0.30534	0	0.59043	0.45803	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	6.769000	0.74780	9.703000	0.81309	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	15.710	0.77376	747	0.52260	Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009082	0.010101	0.005435	0.035088	0.000000	0.008621	0.000000	0.003788	0.05	453.43	36	chr19	35806769	.	G	A	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.723;DP=359;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.091;SOR=0.368	GT:AD:DP:GQ:PL	0/1:18,19:37:99:465,0,350	9	0	1	0
chr19	36819281	36819282	GA	-	exonic	ZNF790	.	frameshift deletion	ZNF790:NM_001242800:exon5:c.1062_1063del:p.Q355Afs*8,ZNF790:NM_001242801:exon5:c.1062_1063del:p.Q355Afs*8,ZNF790:NM_001242802:exon5:c.1062_1063del:p.Q355Afs*8,ZNF790:NM_206894:exon5:c.1062_1063del:p.Q355Afs*8	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000599042	0.0008	0	0.0003	0	0	0.0012	0.0011	0.0006	0.0001537	4	26028	rs556524944	0.0006	0.0006	0.0006	0.0007	0.0028	0.0006	0.0006	0.0017	0.0014	2.997e-05	0.0003	0.0125	0	0.0001	0.0028	0.0004	0.0012	0.0004	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0005	0.0004	0	0	0.0003	0.0147	0	0	0.0034	0.0006	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.05	2185.39	34	chr19	36819280	.	TGA	T	2185.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=-1.193;SOR=0.706	GT:AD:DP:GQ:PL	0/1:34,55:89:99:2197,0,1237	9	0	1	0
chr19	37740177	37740177	C	T	exonic	ZNF573	.	nonsynonymous SNV	ZNF573:NM_001172692:exon4:c.G49A:p.E17K,ZNF573:NM_001172690:exon5:c.G313A:p.E105K,ZNF573:NM_001172691:exon5:c.G307A:p.E103K,ZNF573:NM_001172689:exon6:c.G49A:p.E17K,ZNF573:NM_152360:exon8:c.G139A:p.E47K	.	482	1036	4	0	0	4	0.00192678	.	.	.	3361361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.000806178261955	.	.	0.0001	0	0	0	0	0.0002	0.0012	0	0.0001164	18	154602	rs200216101	9.976e-05	0.0001	0.0001	9.52e-05	0.0002	8.603e-05	8.129e-05	4.983e-05	4.56e-05	0	2.62e-05	0.0021	0	0.0001	0.0002	6.22e-05	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0002	8.173e-05	6.728e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0035	0	0	0	4.411e-05	0.0005	0	0.33	0.16793	T	0.551	0.17217	T	0.22	0.30288	B	0.112	0.31615	B	.	.	.	.	1	0.23248	N	.	.	.	3.41	0.06762	T	0.84	0.01761	N	0.122	0.17278	-0.9437	0.42025	T	0.011	0.04181	T	9	0.007248968	0.00165	T	8.06E-4	0.00629	T	0.030	0.07022	.	.	0.149567049428	0.14543	0.2739243562034503	0.27305	0.0895599370888	0.10117	0.502771377563	0.39214	T	0.005076	0.04506	T	-0.459629	0.00988	T	-0.6723	0.07462	T	0.0253506547036189	0.01319	T	0.544846	0.24302	T	0.08940624	0.20888	0.21477821	0.46041	0.08940624	0.20887	0.21477821	0.46040	-2.775	0.21629	T	.	.	0.095	0.31279	B	.;.;.;.;.;.	.;.;.;.;.;.	1.326899	0.17317	13.09	0.97991247037071583	0.37401	0.01710	0.05428	N	AEFGBI	0.038663	0.05503	N	-0.826511789408889	0.12635	0.6171349	-0.830441399210184	0.13758	0.7154902	0.00483881552429486	0.10731	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.97	0.919	0.18518	-0.375000	0.07532	.	.	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.8327:0.0:0.1673	6.440	0.21045	648	0.63242	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	878.43	41	chr19	37740177	.	C	T	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.078;DP=419;ExcessHet=0;FS=2.53;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.745;SOR=1.151	GT:AD:DP:GQ:PL	0/1:24,32:56:99:890,0,589	9	0	1	0
chr19	37885098	37885098	T	C	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.A8573G:p.Q2858R,WDR87:NM_031951:exon6:c.A8456G:p.Q2819R	.	437	1068	17	0	0	17	0.00789596	.	.	.	1662152	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.007	0.0136131210889	0.0013	0.000399361	0.0029	0	0	0	0.0055	0.0039	0	0	0.0005045	78	154602	rs200123506	0.0019	0.0018	0.0019	0.0019	0.0028	0.0018	0.0018	0.0018	0.0017	7.011e-05	0.0011	0.0090	0	0.0058	0.0028	0.0018	0.0023	0.0004	0.0019	0.0019	0.0017	0.0020	0.0024	0.0017	0.0016	0.0021	0.0020	0.0001	0	0.0009	0.0133	0	0.0043	0.0034	0.0024	0.0019	0.0006	0.109	0.29288	T	0.293	0.20811	T	0.035	0.20614	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	.	.	.	3.01	0.09075	T	-0.3	0.11913	N	0.091	0.07125	-0.9616	0.38877	T	0.014	0.05608	T	9	0.005478412	0.00121	T	0.013613	0.33144	T	0.007	0.00512	.	.	0.0297737177859	0.01360	0.07583108261841237	0.07519	.	.	0.251006901264	0.03875	T	.	.	.	-0.679969	0.00048	T	-0.748964	0.03526	T	0.00149872047570043	0.00015	T	0.264874	0.04312	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08754	B	.;.	.;.	1.064228	0.14459	11.03	0.17725466412183147	0.00528	0.01657	0.05315	N	AEFBI	0.054095	0.09806	N	-1.34952930495152	0.03130	0.1393119	-1.38707649216665	0.03389	0.1579785	2.36522375841724E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.81	-2.55	0.05922	0.245000	0.17917	.	.	-0.770000	0.03453	0.022000	0.19841	0.000000	0.08366	0.000000	0.00833	0.2831:0.0:0.3996:0.3173	4.200	0.09923	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	1	0	0.001217	0.000000	0.000000	0.008696	0.000000	0.000000	0.000000	0.012500	0.05	1463.43	125	chr19	37885098	.	T	C	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.249;DP=1139;ExcessHet=0;FS=5.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.182;SOR=1.255	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1475,0,1453	9	0	1	0
chr19	38740121	38740122	TT	-	exonic	CAPN12	.	frameshift deletion	CAPN12:NM_144691:exon5:c.658_659del:p.N220Qfs*25	.	421	1096	5	0	0	5	0.00227583	.	.	.	772675	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0008	0	0.0002	0	0	6.307e-05	0	0.0055	0.0001921	5	26028	rs576857054	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0041	0	0.0005	0	0	0	0.0007	2.248e-05	0.0001	0.0046	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0001	0.0018	0.0014	0	0	0.0012	0	0	0	0	1.47e-05	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	544.39	33	chr19	38740120	.	GTT	G	544.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=350;ExcessHet=0;FS=4.887;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.573;SOR=0.936	GT:AD:DP:GQ:PL	0/1:22,15:37:99:556,0,862	9	0	1	0
chr19	39244094	39244094	T	C	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon3:c.A322G:p.T108A,IFNL3:NM_001346937:exon4:c.A334G:p.T112A	.	408	1081	33	0	0	33	0.0150342	.	.	.	716424	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.027	.	0.0080	0.00658946	0.0063	0.0084	0.0023	0	0.0009	0.0072	0.0033	0.0096	0.0057502	889	154602	rs148543092	0.0076	0.0077	0.0076	0.0076	0.0153	0.0075	0.0075	0.0127	0.0117	0.0075	0.0028	0.0169	2.519e-05	0.0005	0.0153	0.0080	0.0090	0.0096	0.0065	0.0066	0.0069	0.0061	0.0098	0.0062	0.0061	0.0076	0.0068	0.0072	0.0011	0.0033	0.0170	0	0.0003	0.0272	0.0075	0.0057	0.0098	0.598	0.05668	T	0.564	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.181763	0.03187	N	1.646800	1	0.08975	N	-0.805	0.01590	N	1.63	0.28002	T	0.07	0.06138	N	0.095	0.08786	-1.0032	0.28992	T	0.013	0.04843	T	10	0.004872024	0.00104	T	.	.	.	0.027	0.05988	.	.	0.0551355673512	0.04727	0.06321474939485254	0.06260	0.194421687405	0.21778	0.238838389516	0.02687	T	0.00212	0.01528	T	-0.653927	0.00068	T	-0.704564	0.05580	T	0.000677952636739895	0.00006	T	0.0663934	0.00484	T	0.06118931	0.12643	0.05127555	0.08218	0.06118931	0.12643	0.05127555	0.08217	-2.013	0.03230	T	.	.	0.061	0.01161	B	.;.	.;.	-1.429335	0.00340	0.006	0.26308200845364488	0.01254	0.00123	0.00769	N	AEFDGI	0.018149	0.00528	N	-2.01541304609239	0.00196	0.008400045	-2.0513431503479	0.00237	0.01046984	0.0605367096954669	0.15200	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.1	-5.88	0.02100	-3.477000	0.00510	.	.	-1.370000	0.01171	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.2254:0.0:0.7746	10.056	0.41419	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	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	0.011078	0.000000	0.005435	0.023392	0.000000	0.025862	0.018293	0.011364	0.05	1374.43	34	chr19	39244094	.	T	C	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.358;DP=476;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.66;MQRankSum=1.61;QD=10.82;ReadPosRankSum=-0.884;SOR=0.922	GT:AD:DP:GQ:PL	0/1:69,58:127:99:1386,0,1774	9	0	1	0
chr19	39418017	39418017	G	T	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon9:c.G818T:p.G273V,PLEKHG2:NM_001351694:exon9:c.G995T:p.G332V,PLEKHG2:NM_022835:exon9:c.G995T:p.G332V	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	420	1070	30	2	0	34	0.0156394	.	.	.	1610372	not_provided|Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B	MedGen:C3661900|MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.530	.	0.0062	0.00658946	0.0189	0.0029	0.0141	0.0007	0.0113	0.0208	0.0312	0.0415	0.0079042	1222	154602	rs117405645	0.0095	0.0095	0.0093	0.0097	0.0217	0.0094	0.0093	0.0185	0.0174	0.0017	0.0074	0.0086	0.0001	0.0031	0.0217	0.0099	0.0096	0.0169	0.0074	0.0074	0.0072	0.0076	0.0176	0.0070	0.0069	0.0146	0.0135	0.0024	0	0.0112	0.0089	0.0002	0.0021	0.0308	0.0099	0.0142	0.0176	0.004	0.65419	D	0.012	0.63918	D	1.0	0.90584	D	0.998	0.88582	D	0.000279	0.46590	D	0.143807	0.999999	0.58761	D	1.245	0.31408	L	-2.24	0.87194	D	-2.04	0.49684	N	0.383	0.46835	-0.1804	0.78170	T	0.381	0.73774	T	10	0.0092255175	0.00208	T	.	.	.	0.530	0.80188	.	.	0.830166376265	0.82855	0.4847988160656083	0.48399	.	.	0.773349881172	0.77925	T	0.004272	0.03680	T	-0.211521	0.19166	T	-0.0629856	0.66123	T	0.0240597923232598	0.01153	T	0.875712	0.58780	D	0.1913511	0.40759	0.16917193	0.38932	0.1935495	0.41069	0.16917193	0.38931	-13.033	0.89499	D	.	.	0.61	0.69292	P	.;.;.	.;.;.	4.848343	0.79229	27.1	0.99764376607998473	0.85335	0.94590	0.61662	D	AEFBI	0.628148	0.61034	D	0.261891830940901	0.54231	3.589069	0.349564429723923	0.58480	4.018855	0.999999469872948	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.65	4.65	0.57626	3.909000	0.56076	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1:0.0:0.9:0.0	8.934	0.34849	688	0.59122	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021047	0.021978	0.028610	0.002924	0.000000	0.034483	0.022013	0.026718	0.05	893.43	36	chr19	39418017	.	G	T	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.488;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.34;SOR=0.746	GT:AD:DP:GQ:PL	0/1:38,37:75:99:905,0,967	9	0	1	0
chr19	39605345	39605345	A	G	exonic	LGALS13	.	nonsynonymous SNV	LGALS13:NM_013268:exon3:c.A260G:p.K87R	.	415	1096	11	0	0	11	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000939910630321	0.0026	0.00119808	0.0021	0.0004	0.0010	0	0.0002	0.0032	0.0033	0.0015	0.0022186	343	154602	rs74400185	0.0029	0.0029	0.0029	0.0029	0.0035	0.0028	0.0028	0.0034	0.0033	0.0005	0.0012	3.826e-05	0	0.0005	0.0016	0.0035	0.0027	0.0015	0.0018	0.0018	0.0019	0.0016	0.0031	0.0016	0.0015	0.0028	0.0027	0.0005	0	0.0015	0	0	0.0003	0.0034	0.0031	0.0028	0.0006	0.108	0.29420	T	0.194	0.28120	T	0.164	0.28467	B	0.16	0.34752	B	.	.	.	.	1	0.08975	N	2.28	0.64929	M	3.24	0.06845	T	-1.6	0.38540	N	0.123	0.11769	-1.0021	0.29313	T	0.019	0.07893	T	8	0.0072447658	0.00165	T	9.4E-4	0.00934	T	0.024	0.04979	.	.	0.264081493735	0.26024	0.08971709144845476	0.08904	0.12895111221	0.14542	0.346894532442	0.17463	T	0.026941	0.31449	T	-0.659815	0.00063	T	-0.722661	0.04668	T	0.568535149097443	0.35179	D	0.485951	0.42712	T	0.30519283	0.53366	0.31238282	0.57241	0.30519283	0.53366	0.31238282	0.57240	-4.766	0.34192	T	.	.	0.083	0.11269	B	.;.;.	.;.;.	0.712856	0.10815	7.499	0.94801021998491752	0.25550	0.01032	0.03867	N	AEFDBI	0.036845	0.04973	N	-0.848353706862818	0.12090	0.5872528	-1.0208118497283	0.09328	0.463455	1.07707322580509E-4	0.05123	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.744	0.744	0.17503	1.250000	0.32453	.	.	0.413000	0.20698	0.003000	0.16062	0.000000	0.08366	0.024000	0.12247	.	.	.	819	0.41190	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2497.43	34	chr19	39605345	.	A	G	2497.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.215;DP=480;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.976;SOR=0.832	GT:AD:DP:GQ:PL	0/1:66,99:165:99:2509,0,1465	9	0	1	0
chr19	40015045	40015045	G	A	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.G1697A:p.R566H,ZNF546:NM_178544:exon7:c.G1775A:p.R592H	.	.	.	.	.	.	.	.	.	.	.	3638963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00155790494283	.	0.000199681	1.651e-05	0	0	0.0001	0	0	0	6.061e-05	1.29e-05	2	154602	rs559273469	3.489e-05	3.489e-05	3.403e-05	3.575e-05	0.0002	2.697e-05	2.438e-05	2.711e-05	2.387e-05	8.961e-05	4.472e-05	0	7.557e-05	0	0.0002	3.597e-05	1.656e-05	1.159e-05	6.582e-05	6.567e-05	9.014e-05	4.039e-05	0.0006	3.522e-05	2.62e-05	0.0002	8.452e-05	4.83e-05	0	0	0	0.0006	0	0.0034	5.886e-05	0	0	0.591	0.05790	T	0.218	0.26066	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.665	0.16292	N	3.5	0.05014	T	-0.79	0.21860	N	0.079	0.05414	-0.9069	0.47227	T	0.008	0.02842	T	9	0.044699043	0.03456	T	0.001558	0.02471	T	0.112	0.31546	0.405	0.43738	0.165133752707	0.16062	0.031019268899636233	0.03050	0.221501517117	0.24687	0.300437986851	0.10466	T	0.003887	0.03292	T	-0.446543	0.01183	T	-0.710076	0.05291	T	0.0483104089973084	0.05200	T	.	.	.	0.026038075	0.01611	0.02657722	0.00754	0.026038075	0.01611	0.02657722	0.00754	-5.193	0.38871	T	.	.	0.346	0.56331	A	.;.	.;.	1.258559	0.16560	12.62	0.8988779881672434	0.19191	0.01820	0.05660	N	AEFGBHCI	0.039225	0.05668	N	-1.03901532867675	0.07805	0.3638066	-1.02016818519924	0.09342	0.464229	0.00117264440454315	0.08304	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	3.0	0.758	0.17579	-1.331000	0.02779	.	.	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2629:0.0:0.4985:0.2386	2.469	0.04281	769	0.49307	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	.	.	.	.	.	.	.	.	0.05	1012.43	43	chr19	40015045	.	G	A	1012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=471;ExcessHet=0;FS=5.033;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.472;SOR=0.936	GT:AD:DP:GQ:PL	0/1:60,40:100:99:1024,0,1481	9	0	1	0
chr19	42249729	42249729	A	C	exonic	ERF	.	nonsynonymous SNV	ERF:NM_001301035:exon4:c.T158G:p.V53G,ERF:NM_001308402:exon4:c.T158G:p.V53G,ERF:NM_001312656:exon4:c.T158G:p.V53G,ERF:NM_006494:exon4:c.T383G:p.V128G	Chitayat syndrome, Autosomal dominant;Craniosynostosis 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	679667	Inborn_genetic_diseases|Craniosynostosis_syndrome	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.0479306554676	.	.	6.036e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs781452659	2.965e-05	2.941e-05	1.781e-05	4.165e-05	0.0005	2.234e-05	1.985e-05	0.0004	0.0003	0	0	0	0	0	0.0004	0	1.669e-05	0.0005	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.002	0.79402	D	0.988	0.62325	D	0.621	0.51426	P	0.017066	0.27816	N	0.325909	1	0.81001	D	2.02	0.55341	M	0.48	0.55945	T	-2.64	0.62630	D	0.441	0.56489	-0.7700	0.56857	T	0.180	0.52736	T	10	0.27994004	0.45568	T	0.047931	0.63147	D	0.282	0.59981	0.414	0.45216	0.498282089621	0.49464	0.6296733072706407	0.62901	1.55285992361	0.87930	0.593680799007	0.52013	T	0.696458	0.91221	D	-0.103252	0.35885	T	-0.092604	0.63965	T	0.459747018543215	0.31156	T	0.909809	0.68064	D	0.52291423	0.68427	0.37089854	0.62330	0.52291423	0.68428	0.37089854	0.62330	-1.13	0.01155	T	0.5640658994147699	0.63163	0.581	0.68086	P	.;.;.	.;.;.	4.886562	0.80184	27.3	0.99662676109903237	0.78074	0.99318	0.94422	D	AEFDBHCI	0.943026	0.94834	D	0.543604280442607	0.69691	5.393433	0.558827081192153	0.72015	5.743503	0.999999999999797	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	2.793000	0.47537	11.029000	0.85041	0.740000	0.86194	0.854000	0.30511	1.000000	0.68203	0.899000	0.43558	1.0:0.0:0.0:0.0	12.472	0.55132	769	0.49307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1705.43	42	chr19	42249729	.	A	C	1705.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.532;DP=507;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.762;SOR=0.795	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1717,0,1907	9	0	1	0
chr19	42916416	42916416	A	-	exonic	PSG6	.	frameshift deletion	PSG6:NM_001031850:exon2:c.136delT:p.S46Pfs*27,PSG6:NM_002782:exon2:c.136delT:p.S46Pfs*27	.	11	1478	28	5	0	38	0.0126921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0003	0.0016	0	0	0.0020	0.0022	0.0010	0.0011966	185	154602	rs766441817	0.0010	0.0010	0.0009	0.0011	0.0257	0.0010	0.0009	0.0223	0.0210	0.0006	0.0023	0.0097	0	5.617e-05	0.0257	0.0006	0.0021	0.0012	0.0012	0.0012	0.0013	0.0011	0.0040	0.0010	0.0010	0.0032	0.0029	9.671e-05	0	0.0040	0.0055	0.0002	0	0.0136	0.0012	0.0029	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019210	0.015464	0.032609	0.033333	0.000000	0.000000	0.009259	0.003817	0.05	4335.39	40	chr19	42916415	.	GA	G	4335.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.734;DP=672;ExcessHet=0;FS=3.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.2;SOR=0.872	GT:AD:DP:GQ:PL	0/1:174,149:323:99:4347,0,5203	9	0	1	0
chr19	42925908	42925908	C	T	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon4:c.G742A:p.G248R,PSG7:NM_002783:exon5:c.G1108A:p.G370R	.	11	1486	20	5	0	30	0.00999334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000399361	0.0012	0.0002	0.0012	0	0	0.0017	0.0022	0.0007	0.0011707	181	154602	rs201797371	0.0008	0.0008	0.0007	0.0009	0.0220	0.0008	0.0008	0.0189	0.0177	0.0005	0.0020	0.0097	0	5.617e-05	0.0220	0.0005	0.0016	0.0008	0.0010	0.0010	0.0011	0.0009	0.0038	0.0009	0.0008	0.0030	0.0028	0.0001	0	0.0038	0.0055	0.0002	0	0.0136	0.0009	0.0019	0.0002	.	.	.	0.014	0.67890	D	0.544	0.37968	P	0.786	0.57542	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37820	.	.	.	.	.	.	.	0.0067870617	0.00154	T	.	.	.	.	.	.	.	0.151104730317	0.14643	0.051088954189910225	0.05050	.	.	0.416956722736	0.27419	T	0.034807	0.23469	T	-0.231353	0.16470	T	-0.111266	0.62510	T	.	.	.	0.816118	0.48291	T	0.055556834	0.10814	0.17338873	0.39662	0.055556834	0.10813	0.17338873	0.39661	-6.721	0.51969	T	.	.	0.155	0.40328	B	.;.;.	.;.;.	1.499847	0.19283	14.18	0.96772207504775054	0.31042	0.00770	0.03176	N	AEFI	0.027467	0.02249	N	.	.	.	.	.	.	1.94330297761093E-4	0.05898	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.34	1.34	0.21018	0.593000	0.23700	-0.251000	0.10506	0.420000	0.20791	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	6.042	0.18968	757	0.50970	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014878	0.020408	0.024457	0.020833	0.000000	0.000000	0.003067	0.000000	0.05	4607.43	33	chr19	42925908	.	C	T	4607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=-1.317;QD=13.32;ReadPosRankSum=2.74;SOR=0.676	GT:AD:DP:GQ:PL	0/1:161,185:346:99:4619,0,3852	9	0	1	0
chr19	43797757	43797757	G	A	exonic	LYPD5	.	nonsynonymous SNV	LYPD5:NM_001288763:exon4:c.C461T:p.P154L,LYPD5:NM_001031749:exon5:c.C590T:p.P197L,LYPD5:NM_182573:exon5:c.C461T:p.P154L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.043782776311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.566e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.004	0.68238	D	0.025	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.037739	0.24367	N	0.179558	0.994423	0.42277	D	1.845	0.48678	L	-0.33	0.68329	T	-4.69	0.90060	D	0.291	0.32921	-0.5661	0.66170	T	0.266	0.63684	T	10	0.31208014	0.48671	T	0.043783	0.61161	D	0.414	0.72479	0.571	0.69431	0.761549872988	0.75938	0.5553560606997454	0.55462	0.799070416977	0.66161	0.440112531185	0.30592	T	0.054642	0.29782	T	0.0268098	0.55296	T	-0.199266	0.54716	T	0.986146867275238	0.76940	D	0.822018	0.48145	T	0.21015973	0.43304	0.2536725	0.51019	0.21015973	0.43304	0.2536725	0.51018	-2.789	0.08082	T	.	.	0.407	0.59992	A	.;.;.	.;.;.	4.501928	0.70423	25.5	0.99677533615708847	0.79043	0.73591	0.35996	D	AEFDBCI	0.251189	0.37110	N	0.350484261339935	0.58764	4.050863	0.323820595969576	0.56943	3.858571	0.766036696712954	0.23589	0.625279	0.40028	0	0.610034	0.51514	0	0.687403	0.62504	0	0.663205	0.64265	0	.	.	3.82	2.71	0.31092	2.958000	0.48838	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.6262:0.3738	8.040	0.29673	900	0.24599	Ly-6 antigen/uPA receptor-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	.	.	.	.	.	.	.	.	0.05	1034.43	34	chr19	43797757	.	G	A	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=405;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.79;SOR=0.566	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1046,0,1034	9	0	1	0
chr19	43996525	43996525	A	T	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A668T:p.Q223L,ZNF155:NM_001260487:exon5:c.A668T:p.Q223L,ZNF155:NM_003445:exon5:c.A668T:p.Q223L,ZNF155:NM_198089:exon5:c.A668T:p.Q223L,ZNF155:NM_001260488:exon6:c.A701T:p.Q234L	.	419	1050	49	4	0	57	0.0264256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0049	0.00519169	0.0063	0.0062	0.0062	0	0.0003	0.0047	0.0044	0.0184	0.0056209	869	154602	rs62640893	0.0041	0.0041	0.0035	0.0047	0.0199	0.0040	0.0040	0.0191	0.0188	0.0064	0.0055	0.0411	2.519e-05	0.0003	0.0160	0.0020	0.0066	0.0199	0.0053	0.0053	0.0050	0.0057	0.0168	0.0050	0.0049	0.0138	0.0127	0.0074	0	0.0084	0.0374	0	9.411e-05	0.0136	0.0021	0.0066	0.0168	0.084	0.32929	T	0.087	0.41742	T	0.981	0.59675	D	0.905	0.64260	P	.	.	.	.	0.997188	0.22759	N	0.18	0.09070	N	3.42	0.05507	T	-4.18	0.75615	D	0.116	0.13769	-1.0267	0.21527	T	0.039	0.16849	T	9	0.004463047	0.00092	T	.	.	.	0.030	0.07022	.	.	0.31077124679	0.30691	0.030600505512641492	0.03009	0.0959658060652	0.10830	0.27735710144	0.07127	T	0.042552	0.26220	T	-0.615684	0.00117	T	-0.642884	0.09460	T	0.051471745858201	0.05757	T	0.20468	0.02388	T	0.06652734	0.14321	0.08079469	0.18306	0.06652734	0.14321	0.08079469	0.18306	-5.602	0.42810	T	.	.	0.177	0.42375	B	.;.;.;.	.;.;.;.	1.051754	0.14328	10.91	0.99437527373424284	0.64571	0.11856	0.16905	N	AEFBI	0.057234	0.10646	N	-0.680687512903077	0.16572	0.8455478	-0.791843044207809	0.14695	0.7691477	0.00535347471497114	0.10912	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	2.59	1.48	0.21900	0.053000	0.14067	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7917:0.0:0.0:0.2083	6.836	0.23118	620	0.66037	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	0.020141	0.030303	0.019022	0.017544	0.000000	0.000000	0.012195	0.022727	0.05	3318.43	161	chr19	43996525	.	A	T	3318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=2094;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.703;SOR=0.701	GT:AD:DP:GQ:PL	0/1:174,130:304:99:3330,0,4480	9	0	1	0
chr19	46704589	46704589	G	A	exonic	PRKD2	.	nonsynonymous SNV	PRKD2:NM_001079882:exon3:c.C101T:p.A34V,PRKD2:NM_016457:exon4:c.C572T:p.A191V,PRKD2:NM_001079880:exon5:c.C572T:p.A191V,PRKD2:NM_001079881:exon5:c.C572T:p.A191V	.	423	1089	10	0	0	10	0.00457038	.	.	.	3203962	PRKD2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.204	0.0256358216951	0.0008	0.000599042	0.0011	0	0.0004	0	0	0.0013	0	0.0027	0.0009896	153	154602	rs144404837	0.0010	0.0010	0.0009	0.0011	0.0045	0.0010	0.0010	0.0032	0.0027	0.0001	0.0006	0.0044	2.519e-05	5.62e-05	0.0045	0.0009	0.0014	0.0025	0.0009	0.0009	0.0008	0.0010	0.0013	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0009	0.0049	0	0	0.0034	0.0013	0.0024	0.0008	1.0	0.00964	T	0.855	0.03945	T	0.003	0.11197	B	0.015	0.17295	B	0.001758	0.38106	N	0.162744	0.999309	0.46608	D	-0.46	0.02758	N	-0.03	0.92560	T	-0.33	0.12472	N	0.131	0.12627	-0.9968	0.30810	T	0.100	0.37085	T	10	0.009878814	0.00222	T	0.025636	0.48598	D	0.204	0.49076	.	.	0.71007069086	0.70753	0.5638156347126245	0.56308	1.71216609492	0.90455	0.750138163567	0.74467	T	0.209326	0.56952	T	-0.239222	0.15449	T	-0.121018	0.61720	T	0.035997201792016	0.02980	T	0.837116	0.50934	T	0.07590912	0.17133	0.16023646	0.37331	0.07590912	0.17132	0.16023646	0.37330	-7.243	0.57631	T	0.08714391335082297	0.05089	0.119	0.43338	B	.;.;.;.;.;.	.;.;.;.;.;.	3.613999	0.51109	23.0	0.92824869533502874	0.22355	0.59092	0.30820	D	ALL	0.291573	0.40267	N	-0.41376785263946	0.24986	1.353083	-0.160875210951204	0.32992	1.882591	0.999999999981396	0.74766	0.77792	0.99625	0	0.779548	0.99637	0	0.854111	0.99894	0	0.756233	0.99697	0	.	.	5.4	5.4	0.77957	3.368000	0.52084	9.742000	0.81438	0.511000	0.23309	0.999000	0.42656	1.000000	0.68203	0.979000	0.57723	0.0841:0.0:0.9159:0.0	11.453	0.49407	929	0.16858	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003024	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	671.43	33	chr19	46704589	.	G	A	671.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.003;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.121;SOR=0.754	GT:AD:DP:GQ:PL	0/1:34,30:64:99:683,0,899	9	0	1	0
chr19	49154166	49154166	A	G	exonic	HRC	.	nonsynonymous SNV	HRC:NM_002152:exon1:c.T1072C:p.S358P	.	409	1102	9	2	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0102	0.0107827	0.0093	0.0153	0.0031	0	0.0153	0.0107	0.0110	0.0067	0.0089844	1389	154602	rs113958500	0.0078	0.0078	0.0078	0.0078	0.0146	0.0077	0.0077	0.0135	0.0131	0.0146	0.0030	0.0258	2.519e-05	0.0125	0.0071	0.0076	0.0083	0.0060	0.0100	0.0099	0.0100	0.0099	0.0139	0.0095	0.0094	0.0130	0.0126	0.0139	0.0154	0.0037	0.0294	0	0.0135	0.0208	0.0084	0.0100	0.0054	0.103	0.30097	T	0.076	0.42794	T	0.995	0.67487	D	0.795	0.57940	P	.	.	.	.	0.951632	0.26465	N	1.935	0.51832	L	0.92	0.47477	T	-2.86	0.60188	D	0.485	0.52475	-1.0724	0.08894	T	0.063	0.26279	T	9	0.0057840645	0.00129	T	.	.	.	0.070	0.20419	.	.	0.43923137753	0.43544	0.04311629641358471	0.04256	0.319603573961	0.34159	0.364207446575	0.19996	T	0.284922	0.65771	T	-0.510504	0.00499	T	-0.494403	0.22929	T	0.0198032157728752	0.00682	T	0.561144	0.20346	T	0.2746389	0.50529	0.32155833	0.58102	0.2746389	0.50529	0.32155833	0.58102	-6.789	0.52477	T	0.6761795334033261	0.75191	0.119	0.32251	B	.;.	.;.	2.436692	0.31353	18.72	0.99686955211630224	0.79641	0.61327	0.31452	D	AEFGBI	0.760266	0.69834	D	0.0136805537129671	0.42478	2.560057	-0.0775322643419425	0.36322	2.112237	0.999948874094765	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.0	0.00061	3	0.542086	0.14980	0	.	.	3.39	2.24	0.27264	1.602000	0.36393	0.000000	0.13247	0.756000	0.94297	0.066000	0.21956	0.011000	0.20116	0.018000	0.11154	0.7371:0.2629:0.0:0.0	6.126	0.19397	734	0.53889	.;.	TRPM4	Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.003788	0.05	1602.43	33	chr19	49154166	.	A	G	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=530;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1.78;SOR=0.846	GT:AD:DP:GQ:PL	0/1:75,64:139:99:1614,0,1994	9	0	1	0
chr19	49167950	49167950	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001195227:exon4:c.G301A:p.A101T,TRPM4:NM_017636:exon4:c.G301A:p.A101T	Progressive familial heart block, type IB, Autosomal dominant	15	1502	5	0	0	5	0.00166168	.	.	.	222811	Cardiovascular_phenotype|not_provided|not_specified|Progressive_familial_heart_block_type_IB|TRPM4-related_disorder	MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN239424	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0176	0.0159744	0.0211	0.0145	0.0076	0.0002	0.0358	0.0222	0.0253	0.0352	0.0197151	3048	154602	rs113984787	0.0016	0.0016	0.0014	0.0019	0.0043	0.0016	0.0016	0.0040	0.0038	0.0022	0.0010	0.0051	0	0.0053	0.0027	0.0012	0.0017	0.0043	0.0066	0.0066	0.0064	0.0068	0.0109	0.0063	0.0061	0.0085	0.0076	0.0056	0	0.0026	0.0123	0	0.0115	0.0106	0.0075	0.0034	0.0109	0.358	0.12511	T	0.699	0.05844	T	0.0	0.02946	B	0.0	0.04355	B	0.004823	0.33350	N	0.246918	1	0.18198	N	-0.665	0.02058	N	4.12	0.02891	T	0.7	0.02228	N	0.052	0.04426	-0.8954	0.48446	T	0.002	0.00585	T	10	0.0020435154	0.00029	T	.	.	.	0.030	0.07022	.	.	.	.	0.17717151930838118	0.17636	0.27738686629	0.30214	0.43352586031	0.29691	T	0.101722	0.40875	T	-0.758679	0.00015	T	-0.850243	0.00957	T	0.013697212561965	0.00256	T	0.128487	0.01008	T	0.047344178	0.08078	0.04773141	0.06941	0.06390272	0.13503	0.049486957	0.07571	-3.466	0.17338	T	.	.	0.059	0.00847	B	.;.	.;.	0.905646	0.12797	9.314	0.95410164167274136	0.26873	0.00918	0.03575	N	AEFDBI	0.028975	0.02651	N	-1.25136982216713	0.04281	0.1929372	-1.13029696517047	0.07127	0.3454977	0.979470975839449	0.30032	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.54	2.27	0.27501	0.266000	0.18300	1.094000	0.24007	-0.092000	0.16129	0.000000	0.06391	0.014000	0.20376	0.971000	0.54645	0.4789:0.0:0.5211:0.0	7.937	0.29097	729	0.54495	.;.	.	.	.	.	rs113984787	Likely benign	0	0	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	0.019637	0.015152	0.012228	0.014706	0.000000	0.043103	0.027439	0.022727	0.05	1587.43	34	chr19	49167950	.	G	A	1587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.09;DP=411;ExcessHet=0;FS=1.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=1.5;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,42:90:99:0|1:49167950_G_A:1599,0,1878:49167950	9	0	1	0
chr19	49932811	49932811	T	C	exonic	ATF5	.	nonsynonymous SNV	ATF5:NM_001193646:exon3:c.T568C:p.S190P,ATF5:NM_001290746:exon3:c.T568C:p.S190P,ATF5:NM_012068:exon4:c.T568C:p.S190P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0127494099845	.	.	0.0001	0.0003	0.0001	0	0	0.0001	0	7.313e-05	7.76e-05	12	154602	rs749451398	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	2.994e-05	0	3.85e-05	5.052e-05	0	0	0.0003	0.0004	4.682e-05	9.275e-05	9.201e-05	7.766e-05	0.0001	0.0004	5.571e-05	4.399e-05	7.94e-05	6.017e-05	2.434e-05	0	0	0	0.0002	0	0	0.0001	0	0.0004	0.372	0.11478	T	0.24	0.24406	T	0.0	0.02946	B	0.0	0.01387	B	0.760095	0.09630	N	0.875438	1	0.08975	N	0	0.06538	N	0.79	0.49068	T	-2.05	0.47008	N	0.116	0.10483	-1.0491	0.14649	T	0.042	0.18160	T	10	0.036156088	0.01900	T	0.012749	0.31594	T	0.029	0.06676	.	.	0.208816687407	0.20498	0.2759113099109887	0.27504	0.0198653729747	0.01948	0.531372368336	0.43228	T	0.044053	0.26695	T	-0.447439	0.01169	T	-0.632183	0.10250	T	0.0119760109048667	0.00188	T	0.155284	0.01352	T	0.09927329	0.23427	0.11041564	0.26622	0.09927329	0.23426	0.11041564	0.26621	-0.812	0.00813	T	.	.	0.051	0.00183	B	.;.	.;.	0.169767	0.05591	2.045	0.4561461242350307	0.03593	0.00270	0.01469	N	AEFDBHCI	0.093126	0.18845	N	-1.56597402625388	0.01443	0.06296617	-1.64540642605163	0.01400	0.06326373	0.999999945882003	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	3.85	-6.63	0.01641	0.582000	0.23535	0.865000	0.22263	-0.208000	0.08445	0.001000	0.13787	0.028000	0.21151	0.054000	0.15518	0.1105:0.2834:0.2064:0.3998	1.879	0.03028	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1030.43	55	chr19	49932811	.	T	C	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.926;DP=467;ExcessHet=0;FS=1.771;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.61;SOR=0.46	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1042,0,1001	9	0	1	0
chr19	51965274	51965274	T	G	exonic	ZNF350	.	nonsynonymous SNV	ZNF350:NM_021632:exon5:c.A1179C:p.Q393H	.	386	1122	12	2	0	16	0.00707965	.	.	.	2818707	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00145382532368	0.0014	0.00139776	0.0017	0.0002	0.0008	0	0.0005	0.0014	0	0.0061	0.0016623	257	154602	rs4988335	0.0017	0.0017	0.0016	0.0017	0.0085	0.0016	0.0016	0.0066	0.0059	0.0002	0.0008	0.0001	2.519e-05	0.0003	0.0085	0.0015	0.0022	0.0055	0.0011	0.0011	0.0011	0.0012	0.0046	0.0010	0.0009	0.0031	0.0026	0.0004	0	0.0008	0	0	0.0002	0.0034	0.0017	0	0.0046	0.058	0.37750	T	0.073	0.43159	T	0.059	0.23051	B	0.042	0.24114	B	0.003175	0.35330	N	0.000000	0.999981	0.18198	N	1.555	0.39373	L	3.18	0.07478	T	-3.84	0.72240	D	0.183	0.19861	-1.0223	0.22965	T	0.021	0.08732	T	10	0.007285595	0.00166	T	0.001454	0.02189	T	0.055	0.15663	0.554	0.67133	0.117506650769	0.11410	0.13985376483419276	0.13908	0.744836898648	0.63452	0.479540765285	0.35993	T	0.108632	0.42184	T	-0.558061	0.00261	T	-0.572196	0.15249	T	0.0498061578783311	0.05466	T	0.447355	0.12562	T	0.35781085	0.57669	0.27973923	0.53944	0.35781085	0.57669	0.27973923	0.53943	-5.577	0.42582	T	.	.	0.823	0.78383	P	.	.	1.392598	0.18056	13.52	0.98199288933276874	0.39105	0.19220	0.20575	N	AEFDBCI	0.077809	0.15685	N	-0.847201414148941	0.12119	0.5888097	-0.920739106781187	0.11605	0.5922507	6.92460446046409E-4	0.07645	0.631515	0.41029	0	0.697927	0.68747	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.41	-3.03	0.05100	-2.109000	0.01422	.	.	0.601000	0.45875	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.615:0.0:0.385	10.996	0.46792	982	0.03397	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	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1696.43	61	chr19	51965274	.	T	G	1696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.402;DP=596;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.357;SOR=0.742	GT:AD:DP:GQ:PL	0/1:45,69:114:99:1708,0,1082	9	0	1	0
chr19	52115218	52115218	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1946A:p.R649K	.	409	1081	30	2	0	34	0.0154827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0044	0.00419329	0.0049	0.0011	0.0039	0	0.0002	0.0062	0.0088	0.0068	0.0047541	735	154602	rs45622033	0.0057	0.0057	0.0057	0.0058	0.0130	0.0056	0.0056	0.0106	0.0098	0.0007	0.0049	0.0051	0	0.0004	0.0130	0.0063	0.0057	0.0068	0.0042	0.0042	0.0043	0.0041	0.0065	0.0039	0.0038	0.0060	0.0058	0.0008	0	0.0060	0.0046	0	0.0006	0.0204	0.0065	0.0071	0.0064	.	.	.	0.531	0.10069	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.425	0.12573	N	3.22	0.07024	T	.	.	.	0.056	0.02759	-1.0327	0.19586	T	0.023	0.09878	T	8	0.004916489	0.00105	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.03217921690351515	0.03165	0.0669319524144	0.07465	0.216768398881	0.01132	T	8.08E-4	0.00390	T	-0.771328	0.00013	T	-0.876731	0.00682	T	0.00221911122000697	0.00023	T	0.80082	0.44648	T	0.032995433	0.03432	0.04251082	0.05079	0.032995433	0.03432	0.04251082	0.05079	-6.572	0.50839	T	.	.	0.156	0.34536	B	.	.	-0.419110	0.02142	0.206	0.80935089646853298	0.13440	0.00002	0.00064	N	AEFBHCI	0.025855	0.01841	N	-1.6336972419401	0.01105	0.04799848	-1.73896296541276	0.00975	0.04369867	0.0330489298285474	0.14086	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	1.93	-3.85	0.03964	-4.150000	0.00323	.	.	-0.515000	0.04990	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.319:0.2971:0.3839:0.0	5.340	0.15282	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	0.011581	0.010101	0.017663	0.011696	0.000000	0.017241	0.009146	0.011364	0.1	1706.14	35	chr19	52115218	.	C	T	1706.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.73;DP=467;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.135;SOR=0.651	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1101,0,1240	8	0	2	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2849.21	64	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	2849.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.15;DP=644;ExcessHet=4.5998;FS=83.429;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.05;MQ=58.68;MQRankSum=-2.192;QD=6.8;ReadPosRankSum=-0.071;SOR=7.04	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,9:71:99:.:.:186,0,2567:.	9	0	1	0
chr19	52415946	52415946	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1094A:p.R365H	.	400	1067	54	1	0	56	0.0255708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0062	0.00698882	0.0109	0.0007	0.0039	0	0.0210	0.0096	0.0233	0.0282	0.0098382	1521	154602	rs142156816	0.0085	0.0085	0.0077	0.0093	0.0260	0.0084	0.0083	0.0251	0.0247	0.0014	0.0039	0.0280	2.519e-05	0.0226	0.0258	0.0065	0.0106	0.0260	0.0074	0.0074	0.0064	0.0085	0.0237	0.0071	0.0069	0.0202	0.0188	0.0011	0	0.0042	0.0289	0.0002	0.0231	0.0342	0.0078	0.0081	0.0237	0.176	0.22312	T	0.546	0.09555	T	0.956	0.54666	P	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.115	0.28702	L	1.54	0.30133	T	0.51	0.02898	N	0.028	0.00618	-1.0120	0.26291	T	0.023	0.09968	T	9	0.004389435	0.00089	T	.	.	.	0.132	0.35948	.	.	.	.	0.015923970449232903	0.01548	0.00915006470918	0.00832	0.254826724529	0.04293	T	0.00476	0.04174	T	-0.595046	0.00156	T	-0.607922	0.12154	T	0.0049661892188208	0.00053	T	0.127587	0.00998	T	0.03501476	0.04041	0.037924096	0.03550	0.03501476	0.04041	0.037924096	0.03549	-4.929	0.36060	T	.	.	0.197	0.41947	B	.	.	1.344308	0.17510	13.21	0.30149128901172884	0.01635	0.04522	0.10151	N	AEFBCI	0.029627	0.02830	N	-0.797295779312745	0.13380	0.6587443	-0.993186387495532	0.09937	0.4973981	9.35688065139829E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	2.08	-0.657	0.10858	-0.925000	0.04100	.	.	-0.245000	0.07249	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1644:0.229:0.6066:0.0	4.592	0.11703	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	.	.	.	.	.	.	.	.	0.05	1016.43	34	chr19	52415946	.	G	A	1016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=500;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.541;SOR=0.558	GT:AD:DP:GQ:PL	0/1:55,39:94:99:1028,0,1399	9	0	1	0
chr19	53140820	53140820	T	C	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.A2011G:p.R671G,ZNF347:NM_001172675:exon5:c.A2011G:p.R671G,ZNF347:NM_032584:exon5:c.A2008G:p.R670G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00137988342975	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs758767285	3.147e-05	3.215e-05	2.314e-05	3.988e-05	0.0005	2.412e-05	2.158e-05	0.0001	0.0001	0	0	0	0	0	0.0005	2.069e-05	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.06891	T	0.388	0.15602	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.84	0.48285	L	3.21	0.07125	T	-1.25	0.31576	N	0.071	0.06454	-1.0214	0.23259	T	0.010	0.03627	T	9	0.06141916	0.07696	T	0.00138	0.02011	T	0.003	0.00094	.	.	0.110078149338	0.10416	0.0260525662969961	0.02556	0.0131583040169	0.01267	0.246135801077	0.03372	T	0.059541	0.31144	T	-0.516432	0.00461	T	-0.742927	0.03769	T	0.306434094905853	0.25267	T	0.0506949	0.00362	T	0.08044055	0.18431	0.05891121	0.10967	0.08044055	0.18430	0.05891121	0.10966	-6.919	0.53440	T	.	.	0.528	0.65846	A	.;.;.	.;.;.	0.244292	0.06242	2.695	0.77692016682137022	0.11982	0.00448	0.02174	N	AEFGBCI	0.062020	0.11895	N	-1.87483198791765	0.00387	0.01661762	-2.04148436257142	0.00250	0.01101303	0.857081371931328	0.25154	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	2.94	-5.89	0.02093	-9.588000	0.00014	.	.	0.480000	0.22105	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.3956:0.2999:0.1988:0.1057	2.326	0.03965	994	0.00715	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	.	.	.	.	.	.	.	.	0.05	1985.43	35	chr19	53140820	.	T	C	1985.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.736;DP=504;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.88;MQRankSum=-0.868;QD=14.49;ReadPosRankSum=0.128;SOR=0.772	GT:AD:DP:GQ:PL	0/1:60,77:137:99:1997,0,1725	9	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	.	.	.	.	.	.	.	.	0.3333	5010.71	35	chr19	54739533	.	C	A	5010.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.5;DP=3120;ExcessHet=4.5998;FS=1.537;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=55.29;MQRankSum=0.189;QD=2;ReadPosRankSum=1.51;SOR=0.525	GT:AD:DP:GQ:PL	0/1:274,54:328:99:524,0,7257	3	0	6	1
chr19	54778621	54778621	-	A	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	frameshift insertion	LOC112267881:NM_001368251:exon5:c.675dupA:p.S225fs,KIR2DL1:NM_014218:exon5:c.675dupA:p.S225fs,KIR2DL2:NM_014219:exon5:c.675dupA:p.N226Kfs*2	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.274e-06	0	0	0	0	0	0	7.529e-05	6.5e-06	1	154602	rs752426907	1.054e-05	1.097e-05	7.001e-06	1.411e-05	0.0006	6.33e-06	5.02e-06	0.0002	8.073e-05	0	0	0	0	0	0.0006	7.403e-06	1.701e-05	3.544e-05	6.818e-06	6.607e-06	1.33e-05	0	1.52e-05	0	0	.	.	0	0	0	0	0	0	0	1.52e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3955.08	39	chr19	54778621	.	C	CA	3955.08	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.138;DP=1689;ExcessHet=0;FS=11.941;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=56.1;MQRankSum=4.36;QD=30.66;ReadPosRankSum=1.61;SOR=0.035	GT:AD:DP:GQ:PL	1/1:5,124:129:99:3978,216,0	9	1	0	0
chr19	55165381	55165381	A	G	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256714:exon4:c.T515C:p.M172T,DNAAF3:NM_001256715:exon4:c.T311C:p.M104T,DNAAF3:NM_001256716:exon4:c.T149C:p.M50T,DNAAF3:NM_178837:exon4:c.T452C:p.M151T	Ciliary dyskinesia, primary, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0128572177481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290601485	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.007	0.74150	D	0.933	0.52105	P	0.623	0.51505	P	0.000000	0.84330	D	0.000000	0.994482	0.42299	D	2.255	0.64187	M	2.05	0.20808	T	-4.83	0.80943	D	0.504	0.57348	-1.0063	0.28065	T	0.117	0.41231	T	10	0.430144	0.57436	T	0.012857	0.31797	T	0.128	0.35103	0.254	0.19378	0.559348659643	0.55595	0.7127735543698205	0.71219	1.10095850674	0.77725	0.744287192822	0.73603	T	0.605949	0.92711	D	-0.0399891	0.45950	T	-0.198364	0.54802	T	0.9838587641716	0.75369	D	0.673433	0.29211	T	0.5422754	0.69523	0.35876024	0.61346	0.5422754	0.69524	0.35876024	0.61346	-4.769	0.75624	T	0.5869029530105394	0.65371	0.513	0.71713	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.708058	0.52926	23.3	0.98773357466028244	0.46002	0.97330	0.74070	D	AEFDBI	0.716711	0.66846	D	0.465970295216277	0.65115	4.782046	0.435989282958109	0.63822	4.623796	0.999999278397075	0.74766	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.586402	0.36253	0	.	.	4.56	4.56	0.55644	3.796000	0.55211	10.869000	0.84005	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.552000	0.30221	1.0:0.0:0.0:0.0	13.218	0.59296	988	0.01987	Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	672.43	35	chr19	55165381	.	A	G	672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.477;DP=355;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.708;SOR=0.756	GT:AD:DP:GQ:PL	0/1:16,31:47:99:684,0,377	9	0	1	0
chr19	55165795	55165795	A	C	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256716:exon3:c.T53G:p.I18S	Ciliary dyskinesia, primary, 2, Autosomal recessive	0	1494	26	2	0	30	0.00994036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0024	0	0	0	0	0.0033	0.0104	0.0023	0.0006404	99	154602	rs537635826	0.0006	0.0006	0.0005	0.0007	0.0044	0.0006	0.0005	0.0030	0.0026	6.182e-05	0.0005	0.0020	0	2.046e-05	0.0044	0.0005	0.0012	0.0022	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	4.824e-05	0	0.0010	0.0020	0	0	0.0068	0.0007	0.0005	0.0008	0.011	0.55530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.3	0.16953	T	0.4	0.03463	N	0.202	0.22357	-0.9537	0.40327	T	0.016	0.06425	T	8	0.00550279	0.00121	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.674487	0.00052	T	-0.748106	0.03560	T	0.012129488222065	0.00193	T	0.361964	0.08365	T	.	.	.	.	.	.	.	.	-1.348	0.01480	T	.	.	0.134	0.29060	B	.	.	0.599689	0.09679	6.452	0.95362320973247905	0.26763	0.06154	0.12135	N	AEFGBCI	0.088806	0.18002	N	-1.02745366790125	0.08037	0.3754451	-1.10485010075216	0.07607	0.3706807	0.999224403668781	0.38808	0.516011	0.20929	0	0.563428	0.19063	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.4	0.442	0.15794	-0.566000	0.06013	-1.184000	0.06088	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.6684:0.3316:0.0:0.0	6.101	0.19268	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	899.43	33	chr19	55165795	.	A	C	899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.674;DP=366;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-0.32;SOR=0.741	GT:AD:DP:GQ:PL	0/1:22,35:57:99:911,0,471	9	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,54:54:99:.:.:2421,167,0:.	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,54:54:99:.:.:2421,167,0:.	1	8	1	0
chr19	55359702	55359702	C	G	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.G1166C:p.G389A	.	405	1110	7	0	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00486256591241	.	0.000798722	0.0031	0	0	0	0	0.0001	0	0.0076	0.0004398	68	154602	rs577584429	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	0	0	0	0	0.0005	3.151e-05	0.0003	0.0054	0.0001	0.0001	5.139e-05	0.0002	0.0035	9.144e-05	7.7e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	4.412e-05	0	0.0035	0.099	0.30656	T	0.368	0.16570	T	0.447	0.36006	B	0.043	0.24256	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.58	0.13434	T	-1.76	0.41618	N	0.028	0.00618	-0.9583	0.39497	T	0.009	0.03271	T	9	0.0068130493	0.00155	T	0.004863	0.12192	T	0.067	0.19503	0.225	0.14960	0.0138822411134	0.00435	0.04264334400597685	0.04209	.	.	0.294133484364	0.09529	T	0.004891	0.04311	T	-0.708739	0.00032	T	-0.788497	0.02206	T	0.0473001382491958	0.05019	T	0.458654	0.13238	T	0.062285375	0.12991	0.06880546	0.14417	0.062285375	0.12991	0.06880546	0.14417	-2.467	0.05560	T	.	.	0.115	0.22933	B	.	.	0.520331	0.08890	5.671	0.86026786248374432	0.16265	0.08367	0.14305	N	AEFDGBC	0.036357	0.04831	N	-1.28534167356301	0.03851	0.1727849	-1.39877483382382	0.03265	0.1519673	0.00631235876970771	0.11185	0.517182	0.21443	0	0.626922	0.53725	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.88	-4.78	0.02975	-1.233000	0.03043	.	.	0.594000	0.32500	0.000000	0.06391	.	.	0.008000	0.08271	0.2986:0.3138:0.1582:0.2294	0.406	0.00404	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	0.001082	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.009091	0.05	1406.43	40	chr19	55359702	.	C	G	1406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.928;DP=440;ExcessHet=0;FS=1.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.4;SOR=0.47	GT:AD:DP:GQ:PL	0/1:37,54:91:99:1418,0,934	9	0	1	0
chr19	56821692	56821692	C	T	exonic	PEG3;ZIM2	.	nonsynonymous SNV	PEG3:NM_001146184:exon6:c.G628A:p.E210K,PEG3:NM_001146185:exon6:c.G250A:p.E84K,PEG3:NM_001146187:exon6:c.G253A:p.E85K,PEG3:NM_001369717:exon6:c.G631A:p.E211K,PEG3:NM_001369721:exon6:c.G253A:p.E85K,PEG3:NM_001369725:exon6:c.G253A:p.E85K,PEG3:NM_001369733:exon6:c.G253A:p.E85K,PEG3:NM_001369735:exon6:c.G253A:p.E85K,PEG3:NM_001369736:exon6:c.G253A:p.E85K,ZIM2:NM_001369772:exon6:c.G253A:p.E85K,ZIM2:NM_001369773:exon6:c.G253A:p.E85K,ZIM2:NM_001369774:exon6:c.G253A:p.E85K,ZIM2:NM_015363:exon6:c.G253A:p.E85K,ZIM2:NM_001146326:exon7:c.G253A:p.E85K,ZIM2:NM_001146327:exon7:c.G253A:p.E85K,PEG3:NM_001369718:exon7:c.G631A:p.E211K,PEG3:NM_001369719:exon7:c.G631A:p.E211K,PEG3:NM_001369722:exon7:c.G253A:p.E85K,PEG3:NM_001369727:exon7:c.G253A:p.E85K,PEG3:NM_001369729:exon7:c.G253A:p.E85K,PEG3:NM_001369730:exon7:c.G253A:p.E85K,PEG3:NM_001369732:exon7:c.G253A:p.E85K,PEG3:NM_001369734:exon7:c.G253A:p.E85K,PEG3:NM_001369737:exon7:c.G253A:p.E85K,PEG3:NM_001369739:exon7:c.G253A:p.E85K,ZIM2:NM_001369770:exon7:c.G253A:p.E85K,ZIM2:NM_001369771:exon7:c.G253A:p.E85K,PEG3:NM_006210:exon7:c.G628A:p.E210K,PEG3:NM_001369723:exon8:c.G253A:p.E85K,PEG3:NM_001369726:exon8:c.G253A:p.E85K,PEG3:NM_001369728:exon8:c.G253A:p.E85K,PEG3:NM_001369731:exon8:c.G253A:p.E85K,PEG3:NM_001369738:exon8:c.G253A:p.E85K,PEG3:NM_001369720:exon9:c.G253A:p.E85K,PEG3:NM_001369724:exon9:c.G253A:p.E85K	.	422	1070	30	0	0	30	0.0138249	.	.	.	716715	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0036	0.00459265	0.0060	0.0006	0.0050	0	0.0002	0.0048	0.0099	0.0197	0.0056015	866	154602	rs142391687	0.0058	0.0058	0.0055	0.0062	0.0192	0.0057	0.0057	0.0184	0.0181	0.0007	0.0034	0.0208	2.519e-05	0.0004	0.0081	0.0051	0.0064	0.0192	0.0039	0.0039	0.0037	0.0040	0.0185	0.0036	0.0035	0.0154	0.0142	0.0011	0.0264	0.0020	0.0213	0	0.0003	0.0102	0.0046	0.0047	0.0185	0.084	0.32929	T	0.007	0.69154	D	0.079	0.24468	B	0.025	0.20508	B	0.550415	0.11442	N	0.742182	.	.	.	0.895	0.22405	L	3.45	0.05311	T	-0.59	0.17624	N	0.215	0.25130	-1.0752	0.08307	T	0.014	0.05608	T	9	0.002678901	0.00041	T	.	.	.	0.033	0.08068	.	.	0.0401082797425	0.02173	0.008895647590194285	0.00852	0.0596439142696	0.06633	0.365860044956	0.20237	T	0.047046	0.47669	T	-0.627072	0.00100	T	-0.658585	0.08362	T	0.00955369215377232	0.00124	T	0.583442	0.22516	T	0.09814445	0.25510	0.1896965	0.42330	0.09814445	0.25509	0.1896965	0.42329	-4.273	0.27797	T	.	.	0.149	0.43018	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.999244	0.25404	16.75	0.99768227467087223	0.85666	0.30846	0.24187	N	AEFBHCI	0.122367	0.23747	N	-0.611517876920625	0.18597	0.966803	-0.576384793105431	0.20109	1.081964	0.847041824562309	0.24973	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	1.214000	0.32023	.	.	0.599000	0.40250	0.002000	0.15269	0.285000	0.24131	0.642000	0.32476	0.0:1.0:0.0:0.0	10.967	0.46629	975	0.05339	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.007772	0.005051	0.004076	0.003497	0.000000	0.017241	0.006098	0.015152	0.05	1254.43	34	chr19	56821692	.	C	T	1254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.976;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.047;SOR=0.629	GT:AD:DP:GQ:PL	0/1:33,55:88:99:1266,0,713	9	0	1	0
chr19	57377431	57377431	C	T	exonic	ZNF547	.	nonsynonymous SNV	ZNF547:NM_173631:exon4:c.C455T:p.A152V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00250871906923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.169	0.30534	T	0.816	0.45573	P	0.132	0.33005	B	.	.	.	.	1	0.08975	N	1.125	0.28843	L	3.44	0.05375	T	-2.0	0.46146	N	0.131	0.12627	-0.9336	0.43605	T	0.009	0.03011	T	9	0.15458286	0.29155	T	0.002509	0.05009	T	0.018	0.03083	0.481	0.56142	0.1749357433	0.17121	0.016327682095559248	0.01588	0.166988957348	0.18835	0.250086665154	0.03776	T	0.059449	0.31119	T	-0.285829	0.10059	T	-0.64835	0.09069	T	0.133351516947101	0.15688	T	0.0089991	0.00043	T	0.053352192	0.10085	0.05442464	0.09358	0.053352192	0.10084	0.05442464	0.09357	-5.374	0.40669	T	.	.	0.110	0.21353	B	.	.	0.199072	0.05841	2.282	0.98494759323159364	0.42144	0.06981	0.13008	N	AEFBHCI	0.030530	0.03092	N	-0.928881611729613	0.10171	0.4847664	-1.02069474484393	0.09330	0.4635948	8.93155213940687E-5	0.04703	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.09	0.999	0.18981	-0.717000	0.05088	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.5882:0.4118:0.0	9.566	0.38561	690	0.58899	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2459.43	34	chr19	57377431	.	C	T	2459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.206;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.179;SOR=0.696	GT:AD:DP:GQ:PL	0/1:94,101:195:99:2471,0,2299	9	0	1	0
chr19	57504659	57504659	G	T	exonic;splicing	ZNF773;ZNF773	NM_001304336:exon2:c.34-1G>T;NM_001304334:exon2:c.34-1G>T;NM_001304335:exon2:c.34-1G>T;NM_001304337:exon2:c.34-1G>T	nonsynonymous SNV	ZNF773:NM_198542:exon2:c.G36T:p.Q12H	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00338598078491	0.0020	0.000199681	0.0022	0.0003	0.0005	0	0.0003	0.0037	0.0011	0.0004	0.0019857	307	154602	rs139350568	0.0018	0.0018	0.0017	0.0019	0.0066	0.0017	0.0017	0.0049	0.0044	0.0004	0.0008	0.0341	0	0.0005	0.0066	0.0012	0.0034	0.0006	0.0015	0.0015	0.0017	0.0012	0.0014	0.0013	0.0013	0.0011	0.0010	0.0002	0	0.0005	0.0297	0	0.0003	0.0034	0.0014	0.0024	0.0006	0.002	0.72154	D	0.024	0.74150	D	0.412	0.35138	B	0.259	0.39405	B	.	.	.	.	0.999673	0.20721	N	3.08	0.87267	M	5.39	0.01025	T	-1.28	0.32185	N	0.353	0.54932	-1.0118	0.26353	T	0.008	0.02679	T	9	0.0077340305	0.00176	T	0.003386	0.07572	T	0.143	0.38195	0.485	0.56780	0.518531843619	0.51497	0.240037117895451	0.23917	0.115565582649	0.13036	0.578223586082	0.49835	T	0.072953	0.34579	T	-0.480532	0.00734	T	-0.482042	0.24230	T	0.0766035314277966	0.09547	T	0.0480952	0.00344	T	0.14792615	0.33794	0.1702864	0.39127	0.14792615	0.33794	0.1702864	0.39126	-7.516	0.57723	D	.	.	0.26	0.49470	B	.;.	.;.	3.854529	0.55855	23.7	0.97995320386553897	0.37431	0.88205	0.48030	D	AEFGBI	0.322502	0.42497	N	-0.218345725223112	0.32381	1.825563	-0.33855104907062	0.26866	1.486759	0.190774963267218	0.17997	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	1.39	1.39	0.21325	4.644000	0.61092	.	.	0.504000	0.22967	0.999000	0.42656	0.999000	0.35428	0.029000	0.12982	0.0:0.0:1.0:0.0	8.707	0.33522	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	0.006042	0.000000	0.005435	0.005848	0.000000	0.008621	0.006098	0.011364	0.05	1852.43	38	chr19	57504659	.	G	T	1852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.773;DP=563;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.96;MQRankSum=0.035;QD=11.36;ReadPosRankSum=0.126;SOR=0.724	GT:AD:DP:GQ:PL	0/1:86,77:163:99:1864,0,2051	9	0	1	0
chr19	57573220	57573220	G	C	exonic	ZNF416	.	nonsynonymous SNV	ZNF416:NM_001353405:exon3:c.C468G:p.H156Q,ZNF416:NM_017879:exon4:c.C684G:p.H228Q	.	426	1064	32	0	0	32	0.0148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0058	0.00439297	0.0060	0.0012	0.0021	0	0.0095	0.0073	0.0066	0.0085	0.0058667	907	154602	rs145794172	0.0074	0.0074	0.0073	0.0074	0.0106	0.0073	0.0072	0.0085	0.0079	0.0007	0.0035	0.0028	2.519e-05	0.0091	0.0106	0.0078	0.0090	0.0086	0.0059	0.0059	0.0059	0.0059	0.0083	0.0055	0.0054	0.0075	0.0073	0.0013	0.0055	0.0076	0.0012	0	0.0097	0.0068	0.0081	0.0090	0.0083	0.165	0.23271	T	0.132	0.34477	T	0.035	0.20614	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.785	0.19527	N	3.24	0.06845	T	-4.87	0.81269	D	0.061	0.03283	-0.9943	0.31485	T	0.008	0.02968	T	9	0.004246503	0.00085	T	.	.	.	0.007	0.00512	0.294	0.25720	0.0482279557977	0.04254	0.01641161655061311	0.01597	0.237101060126	0.26249	0.245162144303	0.03276	T	0.219429	0.58244	T	-0.685344	0.00045	T	-0.74783	0.03571	T	0.0223640182416722	0.00950	T	0.0281972	0.00174	T	0.06999825	0.15382	0.13588358	0.32522	0.06999825	0.15382	0.13588358	0.32521	-2.779	0.07991	T	.	.	0.108	0.20508	B	.	.	-1.202347	0.00528	0.012	0.34883764537529655	0.02159	0.02714	0.07370	N	AEFBHCI	0.028361	0.02483	N	-2.06612509115374	0.00152	0.00650423	-2.18827142712601	0.00119	0.00522519	0.999545044357143	0.40300	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.55	-7.09	0.01399	-2.087000	0.01447	.	.	-1.485000	0.01053	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1783:0.2491:0.4888:0.0837	4.009	0.09103	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	0.009063	0.000000	0.009511	0.002924	0.000000	0.008621	0.015244	0.015152	0.05	2398.43	35	chr19	57573220	.	G	C	2398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.305;DP=542;ExcessHet=0;FS=3.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.718;SOR=0.959	GT:AD:DP:GQ:PL	0/1:78,91:169:99:2410,0,2050	9	0	1	0
chr19	58498582	58498582	G	C	exonic	SLC27A5	.	nonsynonymous SNV	SLC27A5:NM_001321196:exon10:c.C1754G:p.A585G,SLC27A5:NM_012254:exon10:c.C2006G:p.A669G	.	424	1054	43	1	0	45	0.0209011	.	.	.	269235	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.022	.	0.0062	0.00439297	0.0072	0.0010	0.0091	0	0.0044	0.0087	0.0125	0.0084	0.0068757	1063	154602	rs145618122	0.0063	0.0063	0.0060	0.0065	0.0225	0.0062	0.0061	0.0194	0.0182	0.0007	0.0087	0.0523	0	0.0033	0.0225	0.0051	0.0102	0.0087	0.0054	0.0054	0.0054	0.0054	0.0102	0.0051	0.0050	0.0079	0.0071	0.0008	0	0.0071	0.0527	0	0.0033	0.0204	0.0057	0.0123	0.0102	0.14	0.25664	T	0.14	0.33554	T	0.004	0.12183	B	0.015	0.17295	B	0.016500	0.27965	N	0.370857	1	0.08975	N	2.18	0.61292	M	-1.05	0.76690	T	-1.7	0.40468	N	0.164	0.26475	-1.0548	0.13093	T	0.055	0.23186	T	10	0.003809452	0.00071	T	.	.	.	0.022	0.04323	.	.	0.657588586956	0.65472	0.27433375528701	0.27346	0.295824562722	0.31980	0.273551166058	0.06608	T	0.132586	0.46276	T	-0.431819	0.01445	T	-0.387364	0.34861	T	0.00934378138432285	0.00119	T	0.680532	0.28920	T	0.11716695	0.27626	0.09850016	0.23484	0.11716695	0.27626	0.09850016	0.23484	-6.486	0.52171	T	.	.	0.093	0.14062	B	.;.;.	.;.;.	1.351631	0.17595	13.26	0.95864334032436205	0.28030	0.07487	0.13503	N	AEFBI	0.283998	0.39697	N	-0.80902216731682	0.13079	0.6418616	-0.788469485847166	0.14778	0.7739335	0.999996703293463	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	4.85	2.51	0.29435	0.397000	0.20608	3.576000	0.39140	0.676000	0.76740	0.000000	0.06391	0.982000	0.30508	0.120000	0.19168	0.0:0.0:0.6228:0.3772	9.675	0.39199	866	0.32446	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.035354	0.014946	0.005848	0.050000	0.017241	0.018293	0.011364	0.05	509.43	46	chr19	58498582	.	G	C	509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.946;DP=401;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-1.596;SOR=0.495	GT:AD:DP:GQ:PL	0/1:50,22:72:99:521,0,1345	9	0	1	0
chr20	1619877	1619877	C	A	exonic	SIRPB1	.	nonsynonymous SNV	SIRPB1:NM_001083910:exon1:c.G68T:p.R23I,SIRPB1:NM_001135844:exon1:c.G68T:p.R23I,SIRPB1:NM_001329157:exon1:c.G68T:p.R23I,SIRPB1:NM_006065:exon1:c.G68T:p.R23I	.	.	.	.	.	.	.	.	.	.	.	2765855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.000997540058738	.	.	.	.	.	.	.	.	.	.	.	.	.	rs865983979	1.233e-05	1.3e-05	1.09e-05	1.376e-05	0.0017	7.7e-06	6.36e-06	0.0009	0.0007	0	2.243e-05	0	0	0	0.0017	6.302e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.15098	T	0.192	0.29153	T	0.0	0.15093	B	0.002	0.19048	B	0.013381	0.01363	U	3.043770	1	0.08975	N	0	0.06538	N	4.62	0.10386	T	1.18	0.01369	N	0.159	0.20793	-1.0114	0.26478	T	0.016	0.06711	T	10	0.3414393	0.51194	T	9.98E-4	0.01073	T	0.113	0.31778	0.76	0.88892	0.255270683199	0.25152	0.3580609975853042	0.35720	0.230124363935	0.25565	0.361215442419	0.19563	T	0.003486	0.02889	T	-0.29588	0.09053	T	-0.662788	0.08079	T	0.134217822777187	0.15766	T	0.453055	0.21717	T	0.031100648	0.02890	0.059880704	0.11311	0.031100648	0.02889	0.059880704	0.11311	-4.526	0.44635	T	.	.	0.122	0.25850	B	.;.;.;.;.	.;.;.;.;.	-0.036355	0.04038	0.931	0.62163497144357815	0.06892	0.03397	0.08510	N	AEFDBHCI	0.053936	0.09763	N	-1.46565855142027	0.02097	0.09222223	-1.56957573653143	0.01844	0.08404051	0.999999767880778	0.74766	0.428477	0.06694	0	0.405561	0.06353	1	0.547309	0.15389	0	0.631631	0.49550	0	.	.	1.85	-3.11	0.04975	-0.503000	0.06464	-5.477000	0.01704	-4.285000	0.00034	0.527000	0.27166	0.000000	0.08366	0.000000	0.00833	0.2091:0.2806:0.2066:0.3037	0.224	0.00160	958	0.09170	.;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-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	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2781.43	36	chr20	1619877	.	C	A	2781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.355;DP=429;ExcessHet=0;FS=2.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.98;ReadPosRankSum=-1.389;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,70:116:99:0|1:1619877_C_A:2793,0,1695:1619877	9	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1195.34	115	chr20	3803192	.	G	C	1195.34	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-1.757;DP=1072;ExcessHet=7.0302;FS=201.816;InbreedingCoeff=-0.6709;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.67;SOR=11.816	GT:AD:DP:GQ:PL	0/1:64,25:96:99:122,0,896	1	0	7	2
chr20	13714910	13714911	CT	-	exonic	ESF1	.	frameshift deletion	ESF1:NM_001276380:exon14:c.2519_2520del:p.E840Afs*21,ESF1:NM_016649:exon14:c.2519_2520del:p.E840Afs*21	.	542	978	0	2	0	4	0.00204082	.	.	.	716859	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0027	0.000998403	0.0025	0.0008	0.0010	0	0.0027	0.0039	0.0044	0.0003	0.0001921	5	26028	rs534749610	0.0027	0.0027	0.0028	0.0026	0.0060	0.0026	0.0026	0.0044	0.0039	0.0003	0.0017	0.0029	0	0.0026	0.0060	0.0031	0.0025	0.0003	0.0024	0.0024	0.0026	0.0021	0.0039	0.0022	0.0021	0.0036	0.0034	0.0006	0	0.0020	0.0043	0	0.0010	0	0.0039	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2145.39	43	chr20	13714909	.	GCT	G	2145.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.425;DP=537;ExcessHet=0;FS=0.663;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-1.767;SOR=0.769	GT:AD:DP:GQ:PL	0/1:71,57:128:99:2157,0,2783	9	0	1	0
chr20	13865502	13865502	C	T	exonic	SEL1L2	.	nonsynonymous SNV	SEL1L2:NM_025229:exon16:c.G1417A:p.V473I	.	442	1075	3	2	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.00781339917218	0.0022	0.000798722	0.0021	0.0006	0.0007	0	0.0027	0.0031	0.0045	0.0007	0.0019857	307	154602	rs146654307	0.0021	0.0021	0.0022	0.0020	0.0057	0.0020	0.0020	0.0042	0.0037	0.0002	0.0013	0.0026	0	0.0025	0.0057	0.0023	0.0020	0.0009	0.0019	0.0019	0.0021	0.0016	0.0030	0.0017	0.0016	0.0027	0.0025	0.0005	0	0.0014	0.0040	0	0.0010	0.0034	0.0030	0.0043	0.0006	0.0	0.91255	D	0.011	0.64786	D	0.997	0.70673	D	0.994	0.82059	D	0.000124	0.49741	D	0.000000	0.999997	0.81001	D	2.25	0.63811	M	0.7	0.51474	T	-0.91	0.24460	N	0.535	0.56317	-0.6493	0.62745	T	0.270	0.64182	T	10	0.015165657	0.00318	T	0.007813	0.20720	T	0.228	0.52768	.	.	0.712539859807	0.71002	.	.	.	.	.	.	.	0.005166	0.04603	T	-0.317004	0.07147	T	-0.233057	0.51476	T	0.0856563854190605	0.10694	T	0.964104	0.86689	D	0.37297702	0.58804	0.31177217	0.57182	0.37297702	0.58804	0.31177217	0.57181	-6.207	0.47980	T	.	.	0.116	0.23325	B	.	.	4.279637	0.65178	24.8	0.99841023307149668	0.92143	0.96530	0.69600	D	AEFGBIJ	0.702153	0.65862	D	0.806793336629456	0.86530	8.914912	0.818767408618871	0.91067	10.702	0.999999999999994	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	7.376000	0.78918	4.830000	0.45191	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	0.88307	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	222.43	37	chr20	13865502	.	C	T	222.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.235;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.17;ReadPosRankSum=-0.446;SOR=0.631	GT:AD:DP:GQ:PL	0/1:32,11:43:99:234,0,951	9	0	1	0
chr20	17659478	17659480	CCT	-	exonic	RRBP1	.	nonframeshift deletion	RRBP1:NM_001365613:exon3:c.1028_1030del:p.E343del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	822.39	41	chr20	17659477	.	CCCT	C	822.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.564;DP=434;ExcessHet=0;FS=2.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.76;MQRankSum=-0.117;QD=14.43;ReadPosRankSum=1.12;SOR=0.382	GT:AD:DP:GQ:PL	0/1:35,22:57:99:834,0,735	9	0	1	0
chr20	32918434	32918434	A	G	exonic	EFCAB8	.	nonsynonymous SNV	EFCAB8:NM_001143967:exon19:c.A2134G:p.T712A	.	424	1087	11	0	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0055	0.00439297	0.0027	0.0140	0.0098	0	0	0.0024	0.0041	0.0003	0.0006727	104	154602	rs116697586	0.0008	0.0007	0.0008	0.0008	0.0136	0.0007	0.0007	0.0126	0.0122	0.0136	0.0027	0.0082	0	0	0.0079	0.0002	0.0021	0.0001	0.0041	0.0041	0.0041	0.0041	0.0121	0.0039	0.0038	0.0113	0.0109	0.0121	0	0.0040	0.0095	0	0	0.0068	0.0002	0.0062	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.003719747	0.00069	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.19286877721724466	0.19204	.	.	.	.	.	.	.	.	-0.588571	0.00171	T	-0.607187	0.12214	T	0.00993325826508491	0.00132	T	0.150085	0.01260	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00563	B	.	.	1.533201	0.19672	14.38	0.16368962797746361	0.00436	0.00270	0.01469	N	AEFDGBI	0.012867	0.00153	N	-0.441996396992325	0.24013	1.29359	-0.366191311481627	0.26013	1.434126	0.00533116372678007	0.10904	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.93	3.93	0.44666	2.394000	0.44104	6.975000	0.57104	-0.110000	0.15115	0.993000	0.37899	1.000000	0.68203	0.031000	0.13245	0.1121:0.0:0.8879:0.0	7.861	0.28672	143	0.94301	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	768.43	44	chr20	32918434	.	A	G	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.459;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=0.085;SOR=0.641	GT:AD:DP:GQ:PL	0/1:58,39:97:99:780,0,1436	9	0	1	0
chr20	32961580	32961580	G	A	exonic	EFCAB8	.	nonsynonymous SNV	EFCAB8:NM_001143967:exon27:c.G3838A:p.V1280M	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs186828263	0.0003	0.0003	0.0003	0.0004	0.0075	0.0003	0.0003	0.0056	0.0049	0.0003	0.0018	0.0082	0	2.583e-05	0.0075	0.0001	0.0012	7.974e-05	0.0006	0.0006	0.0005	0.0007	0.0025	0.0005	0.0005	0.0019	0.0017	4.811e-05	0	0.0025	0.0095	0	0	0.0034	0.0002	0.0028	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.008717805	0.00198	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.007973938482530602	0.00762	.	.	.	.	.	.	.	.	-0.445952	0.01193	T	-0.878356	0.00668	T	.	.	.	0.436356	0.11970	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18705	B	.	.	0.276347	0.06533	3.020	0.71654462440814037	0.09703	0.01270	0.04446	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.00777660664389791	0.11541	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.107536	0.23255	3.47	-3.08	0.05022	-0.262000	0.08706	-1.808000	0.04688	-0.241000	0.07509	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.5273:0.1722:0.3004:0.0	4.678	0.12102	123	0.95099	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	706.43	33	chr20	32961580	.	G	A	706.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.689;DP=364;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.47;SOR=0.392	GT:AD:DP:GQ:PL	0/1:22,29:51:99:718,0,572	9	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	2382.99	178	chr20	34852409	.	G	C	2382.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.363;DP=1624;ExcessHet=10.3881;FS=297.982;InbreedingCoeff=-0.6669;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.03;SOR=10.005	GT:AD:DP:GQ:PL	0/1:87,44:152:99:115,0,1385	2	0	8	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	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	290.81	57	chr20	41100210	.	T	C	290.81	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.473;DP=484;ExcessHet=2.8389;FS=197.43;InbreedingCoeff=-0.3399;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=0.027;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,11:44:99:0|1:41100207_G_A:101,0,614:41100207	5	0	5	0
chr20	44051315	44051315	A	G	exonic	TOX2	.	nonsynonymous SNV	TOX2:NM_001098796:exon4:c.A295G:p.M99V,TOX2:NM_001098797:exon4:c.A421G:p.M141V,TOX2:NM_001098798:exon4:c.A448G:p.M150V,TOX2:NM_032883:exon5:c.A295G:p.M99V	.	424	1048	47	3	0	53	0.0246626	.	.	.	705498	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00539137	0.0069	0.0017	0.0062	0.0030	0.0015	0.0085	0.0164	0.0079	0.0064682	1000	154602	rs41279272	0.0061	0.0061	0.0059	0.0063	0.0340	0.0060	0.0060	0.0301	0.0286	0.0011	0.0066	0.0385	0.0021	0.0014	0.0340	0.0055	0.0091	0.0070	0.0057	0.0057	0.0058	0.0056	0.0070	0.0054	0.0053	0.0065	0.0063	0.0011	0	0.0070	0.0415	0.0029	0.0010	0.0411	0.0070	0.0133	0.0068	0.012	0.57480	D	0.039	0.51112	D	0.325	0.33132	B	0.06	0.26717	B	0.014830	0.28418	N	0.426812	0.990814	0.41242	D	1.65	0.42232	L	1.09	0.39223	T	-1.29	0.35194	N	0.718	0.72031	-0.9537	0.40327	T	0.045	0.19316	T	10	0.005722612	0.00127	T	.	.	.	0.132	0.35948	.	.	0.415955377315	0.41215	0.5655904180921868	0.56486	0.59240676416	0.54630	0.716925263405	0.69599	T	0.037393	0.24461	T	-0.330464	0.06077	T	-0.24346	0.50460	T	0.0154007402693536	0.00344	T	0.887611	0.61581	D	0.23386055	0.46197	0.26654023	0.52500	0.23386055	0.46197	0.26654023	0.52499	-4.574	0.31982	T	.	.	0.209	0.51874	B	.;.;.;.	.;.;.;.	3.473202	0.48468	22.6	0.87758277527904116	0.17460	0.98286	0.81270	D	AEFDGBI	0.561569	0.56951	D	-0.105033052101989	0.37172	2.158918	0.0124872738930544	0.40293	2.402406	0.480808113755305	0.20784	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.58	5.58	0.84361	2.220000	0.42549	11.119000	0.86504	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8443:0.1556:0.0:0.0	11.016	0.46905	684	0.59539	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026183	0.010101	0.028533	0.040936	0.000000	0.051724	0.021341	0.026515	0.05	638.43	34	chr20	44051315	.	A	G	638.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.345;DP=366;ExcessHet=0;FS=1.26;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.916;SOR=0.504	GT:AD:DP:GQ:PL	0/1:18,24:42:99:650,0,426	9	0	1	0
chr20	45950261	45950261	T	C	exonic	ZNF335	.	nonsynonymous SNV	ZNF335:NM_022095:exon22:c.A3445G:p.I1149V	.	418	1089	14	1	0	16	0.00729262	.	.	.	208667	not_specified|not_provided|ZNF335-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	0.00899988980791	0.0002	0.00159744	0.0008	9.798e-05	0.0004	0.0001	0	0.0006	0.0013	0.0047	0.0001552	24	154602	rs143113106	0.0006	0.0006	0.0005	0.0008	0.0046	0.0006	0.0006	0.0042	0.0041	9.498e-05	0.0004	4.649e-05	2.549e-05	9.878e-05	0.0030	0.0004	0.0009	0.0046	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	7.218e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0.0062	0.001	0.78490	D	0.025	0.56192	D	0.985	0.61118	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999961	0.52935	D	1.795	0.47270	L	3.06	0.08634	T	-0.27	0.11366	N	0.434	0.47301	-1.1076	0.03284	T	0.032	0.13548	T	10	0.008857846	0.00201	T	0.009	0.23702	T	0.068	0.19811	.	.	0.479518371956	0.47582	0.18307421158142345	0.18226	0.60149478984	0.55188	0.62885928154	0.56983	T	0.091753	0.38862	T	-0.450338	0.01124	T	-0.419252	0.31162	T	0.0541689350982694	0.06218	T	0.89771	0.64209	D	0.30317298	0.53187	0.19128355	0.42579	0.30317298	0.53187	0.19128355	0.42578	-3.031	0.10519	T	0.4789466605307448	0.55797	0.151	0.33435	B	.	.	3.886972	0.56536	23.7	0.99916462444390297	0.98449	0.97138	0.72912	D	AEFDBCI	0.594822	0.58961	D	0.484195710313345	0.66168	4.915221	0.509225164700833	0.68609	5.243758	0.999999998580457	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.86	4.86	0.62624	7.059000	0.76386	5.089000	0.47337	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	12.606	0.55881	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	0.002014	0.000000	0.001362	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	683.43	41	chr20	45950261	.	T	C	683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=403;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=2.24;SOR=1.247	GT:AD:DP:GQ:PL	0/1:40,29:69:99:695,0,956	9	0	1	0
chr20	49228847	49228847	A	G	exonic	DDX27	.	nonsynonymous SNV	DDX27:NM_001348187:exon8:c.A839G:p.Q280R,DDX27:NM_017895:exon8:c.A839G:p.Q280R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0148054819229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.745e-06	4.788e-06	4.093e-06	1.381e-06	3.607e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.607e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.188	0.28669	T	0.775	0.44108	P	0.589	0.50435	P	0.000000	0.84330	D	0.050677	0.999977	0.53665	D	0.4	0.12274	N	2.37	0.15964	T	-2.7	0.57599	D	0.565	0.59223	-1.1055	0.03486	T	0.040	0.17063	T	10	0.51501024	0.62315	D	0.014805	0.35167	T	0.212	0.50341	0.383	0.40134	0.194818534648	0.19098	0.644233229214214	0.64358	0.441427201238	0.44130	0.677466154099	0.63905	T	0.020945	0.16402	T	-0.0956507	0.37142	T	-0.375172	0.36285	T	0.9198899269104	0.57880	D	0.914509	0.69822	D	0.30723283	0.53545	0.39770263	0.64378	0.30723283	0.53545	0.39770263	0.64378	-9.167	0.68766	D	.	.	0.187	0.47880	B	.;.;.	.;.;.	4.640935	0.73888	26.1	0.99747789490402927	0.84002	0.97897	0.77954	D	AEFDGBI	0.839819	0.75719	D	0.370225038162065	0.59815	4.164179	0.468998070933583	0.65947	4.888459	0.999999861121309	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	7.102000	0.76653	11.238000	0.90335	0.729000	0.85517	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.835:0.0:0.0:0.165	8.986	0.35153	872	0.31118	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	442.43	42	chr20	49228847	.	A	G	442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.608;DP=397;ExcessHet=0;FS=7.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.56;SOR=2.03	GT:AD:DP:GQ:PL	0/1:24,18:42:99:454,0,619	9	0	1	0
chr20	50191167	50191178	CCCCCGCGGCGC	-	exonic	CEBPB	.	nonframeshift deletion	CEBPB:NM_001285878:exon1:c.65_76del:p.P26_A29del,CEBPB:NM_005194:exon1:c.134_145del:p.P49_A52del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	3.84e-05	1	26028	rs759127954	5.158e-05	6.704e-05	4.957e-05	5.364e-05	0.0001	4.133e-05	3.783e-05	4.846e-05	3.237e-05	7.389e-05	0.0001	0	3.55e-05	5.243e-05	0	4.695e-05	9.34e-05	6.811e-05	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	0.0001	0.0009	0.0007	0.0001	0	0.0013	0	0.0002	0.0002	0	1.479e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1059.39	36	chr20	50191166	.	GCCCCCGCGGCGC	G	1059.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=391;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.54;ReadPosRankSum=2.01;SOR=0.611	GT:AD:DP:GQ:PL	0/1:20,27:47:99:1071,0,750	9	0	1	0
chr20	57503448	57503448	C	T	exonic	CTCFL	.	nonsynonymous SNV	CTCFL:NM_001269054:exon8:c.G1042A:p.A348T,CTCFL:NM_001269041:exon9:c.G1828A:p.A610T,CTCFL:NM_001269044:exon9:c.G1828A:p.A610T,CTCFL:NM_001269046:exon9:c.G1678A:p.A560T,CTCFL:NM_001269049:exon9:c.G1213A:p.A405T,CTCFL:NM_001269040:exon10:c.G1828A:p.A610T,CTCFL:NM_001269042:exon10:c.G1828A:p.A610T,CTCFL:NM_001269043:exon10:c.G1828A:p.A610T,CTCFL:NM_080618:exon11:c.G1828A:p.A610T	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00244467616351	0.0035	0.00279553	0.0016	0.0076	0.0010	0	0.0011	0.0010	0.0033	0.0019	0.0015653	242	154602	rs142170954	0.0013	0.0013	0.0012	0.0013	0.0066	0.0012	0.0012	0.0059	0.0056	0.0066	0.0008	0	5.038e-05	0.0010	0.0026	0.0011	0.0013	0.0026	0.0024	0.0024	0.0025	0.0023	0.0064	0.0022	0.0021	0.0057	0.0055	0.0064	0	0.0010	0	0	0.0006	0	0.0009	0.0024	0.0029	0.033	0.44358	D	0.569	0.58613	T	0.002	0.09854	B	0.0	0.01387	B	0.312266	0.04023	N	1.652230	1	0.08975	N	0	0.06538	N	2.87	0.10578	T	-0.14	0.10656	N	0.156	0.21710	-0.9927	0.31906	T	0.008	0.02638	T	9	0.0034537315	0.00061	T	0.002445	0.04813	T	0.021	0.04004	.	.	0.182106788282	0.17826	0.063785063016116	0.06317	0.523028891513	0.50016	0.259960532188	0.04886	T	0.028496	0.20628	T	-0.588171	0.00172	T	-0.612938	0.11748	T	0.00287389517692217	0.00030	T	0.630437	0.24556	T	0.08795631	0.20501	0.1333032	0.31968	0.08795631	0.20500	0.1333032	0.31967	-3.417	0.20387	T	.	.	0.078	0.20313	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.723502	0.10925	7.594	0.93007021166018666	0.22598	0.04391	0.09973	N	ALL	0.106535	0.21253	N	-1.23965273606581	0.04437	0.2002629	-1.32373123613723	0.04125	0.1939236	0.991582545997433	0.32538	0.553676	0.25195	0	0.378051	0.05961	2	0.618467	0.43123	0	0.530356	0.10902	0	.	.	0.158	0.158	0.14233	0.572000	0.23387	-0.647000	0.08048	0.241000	0.18245	0.004000	0.16614	0.004000	0.18990	0.204000	0.22012	.	.	.	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	0.004028	0.005051	0.001359	0.002924	0.000000	0.000000	0.009146	0.007576	0.05	1568.43	33	chr20	57503448	.	C	T	1568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.513;DP=425;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.336;SOR=0.575	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1580,0,1186	9	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	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	1/1:0,219:219:99:6947,657,0	1	4	5	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	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	1/1:0,178:178:99:5075,533,0	1	4	5	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	.	.	.	.	.	.	.	.	0.1	3455.14	34	chr21	13615163	.	G	A	3455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.399;DP=605;ExcessHet=0.2348;FS=0.848;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=49.27;MQRankSum=0.479;QD=10.9;ReadPosRankSum=-0.23;SOR=0.642	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1416,0,1943	8	0	2	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	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,153:153:99:4132,458,0	1	5	4	0
chr21	34449517	34449604	CGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	-	exonic	KCNE1	.	frameshift deletion	KCNE1:NM_001127670:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001270404:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001127668:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001127669:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270402:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270403:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270405:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_000219:exon4:c.31_118del:p.P11Afs*24	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	200	1278	43	1	0	45	0.017301	.	.	.	1192622	Long_QT_syndrome_5|not_provided	MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.0059	0.0042	0.0048	0.0232	0.0044	0.0043	0.0215	0.0208	0.0079	0.0037	0.0084	0.0232	0.0086	0.0043	0.0035	0.0070	0.0035	0.0025	0.0089	0.0026	0.0023	0.0035	0.0022	0.0021	0.0028	0.0026	0.0035	0	0.0008	0.0023	0.0031	0.0013	0	0.0026	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32.33	34	chr21	34449516	.	CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	C	32.33	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.376;DP=411;ExcessHet=0.7463;FS=9.758;InbreedingCoeff=-0.2229;MLEAC=3;MLEAF=0.15;MQ=37.95;MQRankSum=3.73;QD=0.21;ReadPosRankSum=-3.041;SOR=0.246	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,42:51:25:0|1:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:25,0,262:34449516	7	0	3	0
chr21	34449523	34449523	T	0	exonic	KCNE1	.	.	.	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	406	907	114	84	11	293	0.134542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	578.65	19	chr21	34449523	.	T	*	578.65	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.15;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=38.22;MQRankSum=-1.178;QD=3.38;ReadPosRankSum=-1.652;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,29:33:24:1|0:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:548,91,72:34449516	4	0	6	0
chr21	37006839	37006839	G	A	exonic	RIPPLY3	.	nonsynonymous SNV	RIPPLY3:NM_018962:exon1:c.G67A:p.A23T	.	474	1046	2	0	0	2	0.00095511	.	.	.	2333987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0065489234023	.	0.000199681	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs557394652	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0001	0.0016	0.0012	0	0.0002	0	0	0	0.0031	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0	0	0.0002	0	0	0	0	0.0005	0.0005	0	0.108	0.29420	T	0.349	0.17531	T	0.394	0.34702	B	0.026	0.20792	B	0.059770	0.02125	U	2.820420	1	0.08975	N	0	0.06538	N	.	.	.	-0.83	0.22727	N	0.055	0.02658	-1.0660	0.10316	T	0.049	0.20868	T	9	0.029904068	0.01117	T	0.006549	0.17272	T	0.040	0.10527	0.132	0.03662	0.0611884634855	0.05136	0.049011800206637125	0.04844	0.0676350951414	0.07558	0.750515222549	0.74523	T	0.072425	0.34450	T	-0.510843	0.00496	T	-0.639503	0.09705	T	0.0999114435331745	0.12348	T	0.40126	0.10220	T	0.03112217	0.02895	0.0414903	0.04728	0.03112217	0.02895	0.0414903	0.04728	-4.881	0.35521	T	.	.	0.102	0.17869	B	.	.	1.603868	0.20502	14.78	0.94129667382370374	0.24312	0.14212	0.18283	N	AEFDBHCI	0.031538	0.03394	N	-1.07497522863407	0.07107	0.3291705	-1.13752857555176	0.06994	0.3385866	0.99997031537233	0.50053	0.495885	0.18260	0	0.475579	0.06741	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.65	0.726	0.17401	0.988000	0.29216	1.100000	0.24060	-0.339000	0.05715	0.002000	0.15269	0.116000	0.22850	0.004000	0.06068	0.1435:0.2409:0.6155:0.0	4.112	0.09534	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008600	0.000000	0.010417	0.029762	0.000000	0.000000	0.000000	0.000000	0.05	91.57	18	chr21	37006839	.	G	A	91.57	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=85;ExcessHet=0;FS=0;InbreedingCoeff=-0.0649;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.718;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,4:8:75:103,0,75	9	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	.	.	.	.	.	.	.	.	0.375	749.38	81	chr21	41918930	.	C	G	749.38	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.894;DP=915;ExcessHet=4.5998;FS=112.686;InbreedingCoeff=-0.5212;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.12;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,11:92:4:0|1:41918930_C_G:4,0,3110:41918930	2	0	6	2
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	4153.92	51	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	4153.92	.	AC=5;AF=0.278;AN=18;BaseQRankSum=0.58;DP=769;ExcessHet=3.7549;FS=6.965;InbreedingCoeff=-0.3033;MLEAC=5;MLEAF=0.278;MQ=59.9;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.479;SOR=0.351	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1938,167,0	5	1	3	1
chr21	42477368	42477368	A	C	exonic	RSPH1	.	nonsynonymous SNV	RSPH1:NM_001286506:exon6:c.T536G:p.L179W,RSPH1:NM_080860:exon7:c.T650G:p.L217W	Ciliary dyskinesia, primary, 24, Autosomal recessive	419	1072	30	1	0	32	0.0147059	.	.	.	243626	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_24	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0014202,MedGen:C3809634,OMIM:615481,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.337	.	0.0075	0.00259585	0.0073	0.0017	0.0037	0.0001	0.0020	0.0107	0.0044	0.0054	0.0071603	1107	154602	rs138007679	0.0087	0.0087	0.0087	0.0088	0.0199	0.0086	0.0086	0.0170	0.0159	0.0011	0.0044	0.0179	2.519e-05	0.0018	0.0199	0.0097	0.0100	0.0053	0.0070	0.0070	0.0074	0.0066	0.0108	0.0067	0.0065	0.0101	0.0098	0.0017	0.0100	0.0092	0.0201	0	0.0007	0.0310	0.0108	0.0083	0.0030	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.069443	0.21604	N	0.437144	0.995387	0.23650	N	2.22	0.62911	M	-0.43	0.71662	T	-4.18	0.76094	D	0.69	0.69562	-0.5802	0.65609	T	0.360	0.72201	T	10	0.009697765	0.00218	T	.	.	.	0.337	0.65913	.	.	0.651676189787	0.64878	0.7483150795058281	0.74777	0.640128570775	0.57655	0.587133646011	0.51090	T	0.518742	0.83130	D	-0.320675	0.06842	T	-0.223016	0.52446	T	0.0454924431433719	0.04692	T	0.805019	0.45286	T	0.17939371	0.39008	0.2904774	0.55070	0.19862854	0.41773	0.2573554	0.51450	-7.512	0.57912	D	.	.	0.435	0.64265	A	.;.	.;.	3.936228	0.57567	23.9	0.95818254659302704	0.27904	0.70193	0.34490	D	AEFDGBCI	0.477952	0.52072	N	0.412952004087937	0.62133	4.424404	0.297161445250001	0.55373	3.700439	0.999999681311236	0.74766	0.554377	0.28877	0	0.296712	0.05252	1	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.3	4.3	0.50540	5.217000	0.65084	10.629000	0.83502	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.008000	0.08271	0.9018:0.0:0.0982:0.0	7.699	0.27779	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014617	0.025253	0.016304	0.008824	0.000000	0.017241	0.015244	0.007576	0.05	1474.43	33	chr21	42477368	.	A	C	1474.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.661;DP=435;ExcessHet=0;FS=4.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.494;SOR=0.371	GT:AD:DP:GQ:PL	0/1:48,65:113:99:1486,0,1128	9	0	1	0
chr21	44401722	44401722	C	A	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon16:c.C2363A:p.A788D,TRPM2:NM_001320351:exon16:c.C2363A:p.A788D,TRPM2:NM_003307:exon16:c.C2363A:p.A788D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0645149782045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.24468	T	0.195	0.28032	T	0.411	0.38213	B	0.11	0.31460	B	0.310651	0.14439	N	0.633895	0.999923	0.19989	N	1.1	0.28011	L	-0.03	0.63077	T	-1.76	0.42763	N	0.416	0.45709	-1.0559	0.12803	T	0.097	0.36393	T	10	0.17169914	0.31902	T	0.064515	0.69300	D	0.157	0.40909	0.538	0.64874	0.444907495582	0.44111	0.6686002484349701	0.66798	0.2339395931	0.25932	0.391722887754	0.23912	T	0.338729	0.70796	T	-0.0801978	0.39684	T	-0.352975	0.38864	T	0.15763664740112	0.17694	T	0.705929	0.31637	T	0.18443026	0.39758	0.16879925	0.38866	0.18443026	0.39757	0.16879925	0.38866	-14.777	0.95313	D	.	.	0.575	0.67823	P	.;.;.;.	.;.;.;.	1.403695	0.18178	13.59	0.97995727704635083	0.37438	0.52597	0.29170	D	AEFDBI	0.323728	0.42583	N	-0.687819351312407	0.16367	0.8332879	-0.683209889150857	0.17381	0.9239104	0.229289736254335	0.18446	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.32	3.07	0.34476	1.214000	0.32023	0.428000	0.18294	0.526000	0.24426	0.834000	0.30193	0.001000	0.17328	0.032000	0.13371	0.0:0.1116:0.0:0.8884	8.576	0.32761	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	.	.	.	.	.	.	.	.	0.05	1391.43	33	chr21	44401722	.	C	A	1391.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.933;DP=435;ExcessHet=0;FS=1.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-3.231;SOR=0.906	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1403,0,1317	9	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3493.31	299	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	3493.31	.	AC=8;AF=0.444;AN=18;DP=3412;ExcessHet=1.5636;FS=2.538;InbreedingCoeff=-0.0667;MLEAC=9;MLEAF=0.5;MQ=59.94;QD=1.42;SOR=0.538	GT:AD:DP:GQ:PL	0/1:170,172:342:99:6519,0,6494	2	1	6	1
chr21	45184566	45184566	T	A	exonic	ADARB1	.	nonsynonymous SNV	ADARB1:NM_001346687:exon7:c.T1636A:p.S546T,ADARB1:NM_015833:exon8:c.T1489A:p.S497T,ADARB1:NM_015834:exon8:c.T1489A:p.S497T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00671238867537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.79e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.29158	T	0.383	0.27679	T	0.033	0.20350	B	0.018	0.18489	B	0.464824	0.12348	N	0.743369	1	0.08975	N	1.015	0.25427	L	1.53	0.30401	T	-0.41	0.14000	N	0.07	0.05162	-1.0064	0.28034	T	0.040	0.17106	T	9	0.08757588	0.14997	T	0.006712	0.17727	T	0.008	0.00669	0.337	0.32654	0.363734036182	0.35979	0.19526595627041057	0.19443	.	.	0.596244215965	0.52374	T	0.302824	0.67520	T	-0.291261	0.09510	T	-0.656152	0.08528	T	0.0363761889056156	0.03046	T	0.435556	0.11926	T	0.110695936	0.26163	0.08189169	0.18646	0.110695936	0.26162	0.08189169	0.18646	-3.91	0.22798	T	.	.	0.065	0.03443	B	.;.;.	.;.;.	0.778336	0.11484	8.086	0.76613829322332938	0.11539	0.01533	0.05044	N	AEFBI	0.026209	0.01928	N	-1.15865057344505	0.05639	0.2575919	-1.24877097255003	0.05149	0.2446654	0.120075729170071	0.16859	0.732398	0.92422	0	0.601575	0.49859	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	0.698	0.698	0.17247	0.215000	0.17352	0.174000	0.15553	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	934	0.15400	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase;.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.38	2	chr21	45184566	.	T	A	34.38	.	AC=2;AF=0.111;AN=18;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.19;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	1
chr21	45504511	45504520	CGGCCCCCCA	0	exonic	COL18A1	.	.	.	Knobloch syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	17425.2	58	chr21	45504511	.	CGGCCCCCCA	*	17425.2	.	AC=1;AF=0.05;AN=20;DP=499;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.05;MQ=60;QD=34.93;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,19:39:99:1|0:45504502_CGGCCCCCCCGGCCCCCCA_C:1550,840,894:45504502	9	0	1	0
chr21	46366789	46366789	G	C	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon15:c.G2461C:p.G821R,PCNT:NM_006031:exon15:c.G2815C:p.G939R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0251191999895	.	.	8.364e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs770095294	1.369e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.02760	T	0.83	0.03717	T	0.001	0.07471	B	0.001	0.04355	B	0.362059	0.04310	N	1.571810	1	0.08975	N	0.405	0.12330	N	5.04	0.01277	T	2.08	0.00371	N	0.096	0.07673	-0.8885	0.49063	T	0.004	0.01365	T	10	0.022667646	0.00572	T	0.025119	0.48100	D	0.011	0.01250	0.152	0.05544	0.273938319068	0.27005	0.028705404604973332	0.02820	0.483515035776	0.47301	0.249754846096	0.03742	T	0.013941	0.11965	T	-0.470858	0.00839	T	-0.817277	0.01508	T	0.0215200189124206	0.00856	T	0.476552	0.14308	T	0.022712538	0.00953	0.04663433	0.06541	0.022712538	0.00953	0.04663433	0.06541	-5.564	0.42462	T	.	.	0.119	0.24329	B	.	.	-0.645125	0.01454	0.088	0.37216274567033575	0.02439	0.00650	0.02830	N	AEFDBI	0.015771	0.00317	N	-1.34482070030283	0.03179	0.1415732	-1.36749045767019	0.03604	0.1684548	0.946670015615377	0.27717	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.36	-1.69	0.07747	-0.156000	0.10086	-2.092000	0.04225	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6279:0.1177:0.2544	8.110	0.30067	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1512.43	105	chr21	46366789	.	G	C	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.666;DP=992;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.517;SOR=0.7	GT:AD:DP:GQ:PL	0/1:63,61:124:99:1524,0,1549	9	0	1	0
chr21	46511510	46511510	C	T	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146115:exon7:c.C869T:p.P290L,DIP2A:NM_001353944:exon7:c.C749T:p.P250L,DIP2A:NM_001146116:exon8:c.C986T:p.P329L,DIP2A:NM_001353942:exon8:c.C1001T:p.P334L,DIP2A:NM_001353943:exon8:c.C998T:p.P333L,DIP2A:NM_015151:exon8:c.C998T:p.P333L,DIP2A:NM_206889:exon8:c.C998T:p.P333L,DIP2A:NM_206890:exon8:c.C998T:p.P333L,DIP2A:NM_206891:exon8:c.C998T:p.P333L	.	420	1090	12	0	0	12	0.00547445	.	.	.	3215065	DIP2A-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0313655495448	0.0008	0.000599042	0.0008	0.0002	0.0011	0	0.0005	0.0009	0.0025	0.0014	0.0006986	108	154602	rs201955611	0.0005	0.0005	0.0005	0.0006	0.0056	0.0005	0.0005	0.0040	0.0035	0.0003	0.0008	0.0018	2.523e-05	0.0007	0.0056	0.0004	0.0007	0.0013	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0005	0.0004	2.405e-05	0	0.0006	0.0029	0	0.0003	0	0.0006	0.0005	0.0010	0.072	0.35537	T	0.047	0.53072	D	0.027	0.21686	B	0.031	0.25278	B	0.000016	0.62929	N	0.069434	0.999997	0.58761	D	2.295	0.65404	M	3.01	0.09075	T	-4.54	0.86073	D	0.414	0.52208	-1.0761	0.08124	T	0.028	0.12014	T	10	0.023014784	0.00590	T	0.031366	0.53467	D	0.150	0.39571	.	.	0.117191471859	0.11215	0.4926527262117567	0.49186	0.910803748371	0.71052	0.458713203669	0.33134	T	0.231246	0.59752	T	-0.490637	0.00644	T	-0.523094	0.19982	T	0.0913932192506496	0.11382	T	0.792821	0.43457	T	0.06356217	0.13397	0.069522865	0.14658	0.06356217	0.13397	0.069522865	0.14657	-9.961	0.74769	D	.	.	0.081	0.10594	B	.;.;.;.;.	.;.;.;.;.	2.125960	0.27065	17.33	0.76005210028885517	0.11296	0.97185	0.73190	D	AEFDBI	0.431272	0.49363	N	-0.615868547784577	0.18467	0.9590107	-0.568762003828735	0.20309	1.093646	0.999997742995741	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	3.61	0.40494	4.997000	0.63662	1.357000	0.25852	-0.800000	0.03169	1.000000	0.71638	0.089000	0.22506	0.005000	0.06747	0.0:0.8525:0.0:0.1475	11.458	0.49439	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	0.004028	0.000000	0.000000	0.017544	0.000000	0.000000	0.006098	0.000000	0.05	1607.43	39	chr21	46511510	.	C	T	1607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=449;ExcessHet=0;FS=0.65;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.391;SOR=0.621	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1619,0,1300	9	0	1	0
chr21	46554290	46554290	C	G	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146116:exon26:c.C3140G:p.P1047R,DIP2A:NM_001353942:exon26:c.C3155G:p.P1052R,DIP2A:NM_001353943:exon26:c.C3152G:p.P1051R,DIP2A:NM_015151:exon26:c.C3152G:p.P1051R	.	.	.	.	.	.	.	.	0.9585	0.716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0462632352962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.835	0.82492	M	3.0	0.09167	T	-7.89	0.96166	D	0.899	0.89912	-1.0571	0.12491	T	0.104	0.38144	T	10	0.87549686	0.86838	D	0.046263	0.62377	D	0.490	0.77720	.	.	0.388112687808	0.38423	0.7537106396637245	0.75318	1.17263309596	0.79805	0.714290738106	0.69215	T	0.254746	0.62544	T	0.184187	0.72428	D	0.026795	0.72070	D	0.997364103794098	0.91383	D	0.994121	0.98052	D	0.72192657	0.79268	0.6456876	0.79285	0.72192657	0.79270	0.6456876	0.79286	-16.993	0.98905	D	.	.	0.963	0.90645	P	.;.	.;.	5.514882	0.91719	32	0.99852026726937171	0.93102	0.99373	0.95182	D	AEFDBI	0.883191	0.81190	D	0.859282996750251	0.89628	10.05119	0.817512757809453	0.90984	10.66205	0.999999999999979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.813000	0.84661	7.490000	0.59357	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	18.859	0.92234	923	0.18507	.;AMP-dependent synthetase/ligase	.	.	.	.	.	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	934.43	34	chr21	46554290	.	C	G	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.767;DP=419;ExcessHet=0;FS=5.292;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.323;SOR=0.259	GT:AD:DP:GQ:PL	0/1:29,39:68:99:946,0,852	9	0	1	0
chr22	17819107	17819107	G	C	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.C3554G:p.P1185R	.	.	.	.	.	.	.	.	.	.	.	2397289	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0252900793812	8.3e-05	0.000399361	3.979e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs369298683	1.557e-05	1.573e-05	1.161e-05	1.972e-05	0.0007	1.001e-05	8.49e-06	0.0004	0.0004	0.0007	0	0	0	0	0	0	1.807e-05	0	0.0001	0.0001	0.0002	0.0001	0.0005	9.143e-05	7.699e-05	0.0003	0.0002	0.0005	0	0.0001	0	0	0	0	0	0	0	0.064	0.36509	T	0.38	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.06	0.61798	T	-1.04	0.27259	N	0.167	0.17691	-0.9982	0.30423	T	0.146	0.46967	T	9	0.03174585	0.01313	T	0.02529	0.48264	D	0.090	0.26093	.	.	0.123314135267	0.11883	0.14650178680549264	0.14572	0.153836466492	0.17363	0.257728993893	0.04624	T	0.011096	0.09944	T	-0.329221	0.06171	T	-0.396422	0.33802	T	0.0366320974257186	0.03091	T	0.518348	0.16810	T	0.048973158	0.08623	0.13618414	0.32586	0.048973158	0.08622	0.13618414	0.32585	-5.486	0.41737	T	.	.	0.082	0.08802	B	.	.	2.668008	0.34779	19.72	0.71727807737978411	0.09728	0.37366	0.25745	N	AEFDBI	0.099990	0.20116	N	-0.65785732163797	0.17231	0.8849592	-0.617664758035936	0.19039	1.019783	0.315443224719336	0.19330	0.706548	0.73137	0	0.724815	0.89359	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	3.275000	0.51342	7.267000	0.57978	0.596000	0.33519	0.117000	0.23121	0.999000	0.35428	0.009000	0.08673	0.1007:0.0:0.8993:0.0	9.120	0.35945	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1262.43	35	chr22	17819107	.	G	C	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=454;ExcessHet=0;FS=3.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.572;SOR=1.11	GT:AD:DP:GQ:PL	0/1:53,55:108:99:1274,0,1198	9	0	1	0
chr22	18083708	18083708	G	A	exonic	PEX26	.	nonsynonymous SNV	PEX26:NM_001127649:exon3:c.G643A:p.E215K,PEX26:NM_001199319:exon4:c.G643A:p.E215K,PEX26:NM_017929:exon4:c.G643A:p.E215K	Peroxisome biogenesis disorder 7A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 7B, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	194477	Peroxisome_biogenesis_disorder_7A_(Zellweger)|Peroxisome_biogenesis_disorder_7B|not_specified|PEX26-related_disorder	MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912|MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.365	0.123340403968	0.0005	.	0.0009	0.0002	0.0003	0	0	0.0015	0.0011	0.0005	0.0008732	135	154602	rs138232280	0.0007	0.0007	0.0006	0.0007	0.0012	0.0006	0.0006	0.0006	0.0004	0.0001	0.0005	0.0238	0	0	0.0012	0.0002	0.0017	0.0005	0.0006	0.0006	0.0006	0.0006	0.0002	0.0005	0.0005	0.0001	8.877e-05	4.81e-05	0	0.0001	0.0205	0	0	0	0.0002	0.0019	0.0002	0.025	0.47320	D	0.065	0.44702	T	0.056	0.22806	B	0.077	0.28532	B	0.501528	0.11943	U	0.728570	0.999937	0.19486	N	2.48	0.72069	M	-3.86	0.95891	D	-1.89	0.44094	N	0.212	0.23632	0.253	0.86794	D	0.796	0.93079	D	10	0.004815489	0.00102	T	0.12334	0.80449	D	0.365	0.68495	.	.	0.903713951654	0.90275	0.2661718834971586	0.26530	0.235404877095	0.26070	0.301500797272	0.10624	T	0.425144	0.77535	T	-0.169927	0.25245	T	-0.125488	0.61349	T	0.0207640288071702	0.00776	T	0.756024	0.37907	T	0.10178639	0.24046	0.10650318	0.25622	0.100597024	0.23754	0.11740387	0.28341	-4.459	0.30348	T	0.32182961278269184	0.41997	0.078	0.08754	B	.;.;.;.	.;.;.;.	2.228751	0.28446	17.80	0.99340286383022636	0.60131	0.87351	0.46864	D	AEFBI	0.164825	0.29126	N	-0.292560633461185	0.29434	1.632258	-0.26013970414808	0.29423	1.648356	0.999905256849197	0.45458	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.76	2.62	0.30337	1.596000	0.36329	4.926000	0.46086	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.457000	0.28051	0.0875:0.1746:0.7379:0.0	8.120	0.30128	835	0.38313	.;.;.;.	.	.	.	.	.	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	0.001515	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2219.43	33	chr22	18083708	.	G	A	2219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.69;DP=533;ExcessHet=0;FS=5.133;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-1.254;SOR=0.586	GT:AD:DP:GQ:PL	0/1:96,92:188:99:2231,0,2462	9	0	1	0
chr22	18608671	18608671	G	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.C2764A:p.Q922K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00365694657123	.	0.000199681	9.308e-06	0	0	0	0	0	0	6.864e-05	3.84e-05	1	26028	rs529630375	6.853e-07	1.368e-06	1.364e-06	0	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	6.562e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.429	0.13752	T	.	.	.	.	.	.	0.080881	0.20898	N	0.468333	1	0.08975	N	2.6	0.76081	M	.	.	.	.	.	.	0.22	0.24634	-1.0316	0.19937	T	0.029	0.12365	T	10	0.08099523	0.13209	T	0.003657	0.08433	T	.	.	.	.	0.0846915920261	0.08053	0.3579798448792119	0.35711	.	.	0.31769490242	0.13071	T	0.024838	0.18689	T	-0.305081	0.08189	T	-0.573061	0.15170	T	0.138753823035031	0.16167	T	0.40256	0.10281	T	0.0810756	0.18609	0.111420766	0.26876	0.0810756	0.18609	0.111420766	0.26875	-4.139	0.25863	T	.	.	0.081	0.08081	B	.	.	1.791327	0.22773	15.75	0.93761993757176787	0.23709	0.01782	0.05581	N	AEFDBI	0.043064	0.06762	N	-0.469575339527884	0.23082	1.237009	-0.549363481283875	0.20823	1.123657	1.81443320349107E-4	0.05844	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.08	4.08	0.46880	1.293000	0.32959	3.905000	0.40374	0.306000	0.19039	0.016000	0.19238	0.995000	0.32472	0.326000	0.25110	0.1143:0.0:0.8857:0.0	8.178	0.30454	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	.	.	.	.	.	.	.	.	0.05	1200.43	33	chr22	18608671	.	G	T	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.37;DP=741;ExcessHet=0;FS=2.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.8;MQRankSum=-4.965;QD=4.8;ReadPosRankSum=-0.627;SOR=0.897	GT:AD:DP:GQ:PL	0/1:183,67:250:99:1212,0,4800	9	0	1	0
chr22	19187701	19187701	C	G	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_007098:exon29:c.G4462C:p.D1488H	.	414	1099	5	1	3	10	0.0031746	.	.	.	2355074	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.00836569693606	.	.	0.0003	0.0001	0	0	0	0.0003	0.0023	0.0008	0.0002264	35	154602	rs55790642	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	2.987e-05	0.0004	0	0	3.756e-05	0.0019	0.0001	0.0005	0.0009	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0011	0.0009	2.405e-05	0	0.0016	0	0	0	0.0034	0.0001	0.0005	0.0004	0.005	0.63226	D	0.011	0.64786	D	0.01	0.15535	B	0.123	0.32463	B	0.000081	0.51296	D	0.128172	0.999936	0.81001	D	2.925	0.84406	M	1.96	0.22270	T	-5.15	0.83357	D	0.712	0.75374	-1.0461	0.15505	T	0.071	0.28969	T	10	0.2636627	0.43846	T	0.008366	0.22156	T	0.203	0.48915	0.636	0.77251	0.331876078066	0.32801	0.6385750003449644	0.63791	.	.	0.54824411869	0.45610	T	0.273284	0.64572	T	-0.263308	0.12516	T	-0.255206	0.49300	T	0.266176612776529	0.23583	T	0.973953	0.90669	D	0.3304299	0.55506	0.3358819	0.59396	0.3304299	0.55506	0.3358819	0.59396	-10.839	0.78767	D	0.3875285088100992	0.48114	0.126	0.26700	B	.;.	.;.	2.344107	0.30048	18.31	0.97817227886842006	0.36168	0.89150	0.49444	D	AEFBI	0.400571	0.47540	N	-0.330410291918967	0.27998	1.540702	-0.304700158715722	0.27947	1.554455	0.99997802662466	0.50053	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	3.97	2.95	0.33285	2.877000	0.48205	-0.077000	0.12225	-0.176000	0.10722	1.000000	0.71638	0.001000	0.17328	0.753000	0.35893	0.0:0.8265:0.0:0.1735	10.016	0.41186	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.000000	0.002924	0.000000	0.017241	0.003049	0.007576	0.05	609.43	38	chr22	19187701	.	C	G	609.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=383;ExcessHet=0;FS=5.176;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-1.633;SOR=1.367	GT:AD:DP:GQ:PL	0/1:42,24:66:99:621,0,1054	9	0	1	0
chr22	19851751	19851751	A	G	exonic	RTL10	.	nonsynonymous SNV	RTL10:NM_024627:exon3:c.T511C:p.F171L	.	407	1105	10	0	0	10	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00897574364418	0.0005	0.000998403	0.0008	9.643e-05	0.0017	0	0	0.0011	0.0022	0.0003	0.000815	126	154602	rs146494789	0.0005	0.0005	0.0006	0.0005	0.0038	0.0005	0.0005	0.0026	0.0022	0.0004	0.0017	0.0007	0	0.0006	0.0038	0.0005	0.0011	0.0003	0.0007	0.0007	0.0006	0.0008	0.0026	0.0005	0.0005	0.0020	0.0017	7.217e-05	0	0.0026	0.0017	0	0.0004	0.0034	0.0006	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.356	0.33761	B	0.127	0.32738	B	0.067624	0.21727	N	0.193173	0.994486	0.23508	N	0.695	0.17993	N	1.61	0.28391	T	-4.73	0.80085	D	0.471	0.50688	-1.0364	0.18419	T	0.057	0.23942	T	10	0.012423575	0.00267	T	0.008976	0.23655	T	0.168	0.42943	0.662	0.79996	0.0297737177859	0.01360	0.8014412379080333	0.80098	0.67947272554	0.59938	.	.	.	0.028873	0.20816	T	-0.340529	0.05351	T	-0.280937	0.46709	T	0.115045605656371	0.13938	T	0.423358	0.11306	T	0.5533073	0.70139	0.47706148	0.69702	0.5533073	0.70140	0.47706148	0.69703	-6.086	0.46993	T	.	.	0.946	0.86474	P	.;.;.	.;.;.	2.418089	0.31091	18.64	0.95260150240671637	0.26529	0.19128	0.20539	N	AEFBHCI	0.067359	0.13238	N	-0.727718963089323	0.15246	0.7666364	-0.794973346936875	0.14618	0.7647365	0.999986480081085	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	3.68	2.64	0.30504	1.361000	0.33740	5.127000	0.47629	-0.059000	0.16651	0.005000	0.17040	0.999000	0.35428	0.435000	0.27561	0.8795:0.0:0.1205:0.0	5.792	0.17629	890	0.26919	Domain of unknown function DUF4939;Domain of unknown function DUF4939;Domain of unknown function DUF4939	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2021.43	33	chr22	19851751	.	A	G	2021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.216;DP=474;ExcessHet=0;FS=2.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.112;SOR=0.492	GT:AD:DP:GQ:PL	0/1:79,80:159:99:2033,0,1966	9	0	1	0
chr22	20090052	20090052	G	A	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon5:c.G1100A:p.S367N,DGCR8:NM_022720:exon5:c.G1100A:p.S367N	.	417	1101	4	0	0	4	0.00181324	.	.	.	2237156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00301021311388	7.7e-05	0.000599042	0.0003	0	0.0002	0	0	0.0003	0	0.0013	0.000304	47	154602	rs145885136	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	0.0002	0.0002	0	0	0.0001	0.0028	0.0002	0.0004	0.0010	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	2.406e-05	0	0.0001	0	0	9.416e-05	0	0.0005	0.0005	0.0014	0.993	0.02057	T	0.81	0.03968	T	0.0	0.02946	B	0.0	0.04355	B	0.050787	0.23039	N	0.523136	1	0.08975	N	0.435	0.12660	N	1.58	0.29085	T	0.36	0.03700	N	0.172	0.20129	-1.0021	0.29313	T	0.021	0.08917	T	10	0.006638795	0.00150	T	0.00301	0.06457	T	0.058	0.16647	.	.	0.168254554758	0.16434	0.10410192845986155	0.10340	0.444651635802	0.44368	0.386800229549	0.23217	T	0.027038	0.19884	T	-0.670359	0.00055	T	-0.792048	0.02109	T	0.00930253370207399	0.00118	T	0.644436	0.25592	T	0.020965641	0.00675	0.03642604	0.03086	0.020965641	0.00675	0.03642604	0.03086	-3.834	0.26534	T	.	.	0.057	0.00573	B	.;.;.	.;.;.	0.108114	0.05080	1.619	0.80561314442821363	0.13261	0.39315	0.26185	N	AEFDBCI	0.065971	0.12897	N	-1.03483059164331	0.07888	0.3679912	-0.938095346857306	0.11200	0.5691298	0.999995720959474	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	-2.55	0.05922	0.481000	0.21969	-0.060000	0.12436	0.618000	0.50648	0.984000	0.35821	0.000000	0.08366	0.962000	0.52141	0.3055:0.1064:0.4797:0.1084	3.445	0.07046	536	0.73233	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.006793	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	2278.43	33	chr22	20090052	.	G	A	2278.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.629;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.839;SOR=0.691	GT:AD:DP:GQ:PL	0/1:87,97:184:99:2290,0,2036	9	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	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:8,3:11:52:52,0,165	2	0	8	0
chr22	23059518	23059518	C	T	exonic	RSPH14	.	nonsynonymous SNV	RSPH14:NM_014433:exon7:c.G991A:p.E331K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0064	0.00499201	0.0017	0.0174	0.0010	0	0	0.0001	0.0011	0	0.0016171	250	154602	rs35881601	0.0006	0.0006	0.0007	0.0005	0.0182	0.0005	0.0005	0.0170	0.0165	0.0182	0.0011	0	0	0	0.0009	9.083e-05	0.0012	2.319e-05	0.0046	0.0046	0.0048	0.0044	0.0160	0.0043	0.0042	0.0150	0.0146	0.0160	0	0.0010	0	0	0	0.0136	0.0001	0.0019	0	0.441	0.09236	T	0.136	0.34009	T	0.297	0.32486	B	0.015	0.17295	B	0.141128	0.18287	U	0.426141	1	0.08975	N	.	.	.	1.31	0.35405	T	-1.32	0.32991	N	0.286	0.32370	-0.9984	0.30367	T	0.019	0.08173	T	10	0.0056070983	0.00124	T	.	.	.	0.036	0.09122	.	.	0.0806252709748	0.07271	0.33719632424649787	0.33632	0.0378799756702	0.04022	0.336980044842	0.15985	T	0.034682	0.23417	T	-0.704151	0.00034	T	-0.769961	0.02769	T	0.00496675466765927	0.00053	T	0.477752	0.14377	T	0.025501456	0.01495	0.036009185	0.02962	0.025501456	0.01495	0.036009185	0.02962	-5.082	0.37717	T	.	.	0.091	0.13174	B	.	.	0.788636	0.11589	8.181	0.95249440915040795	0.26504	0.10820	0.16215	N	AEFDBI	0.078276	0.15789	N	-1.23005951294644	0.04569	0.206493	-1.33170685925118	0.04026	0.1890519	0.999084327888007	0.38397	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.08	-4.37	0.03381	-0.001000	0.12880	-0.227000	0.10711	-0.182000	0.10109	0.046000	0.21249	0.000000	0.08366	0.001000	0.02609	0.121:0.3076:0.2761:0.2953	1.474	0.02276	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	0.007049	0.015152	0.014946	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1387.43	35	chr22	23059518	.	C	T	1387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.068;DP=426;ExcessHet=0;FS=4.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.311;SOR=0.519	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1399,0,1152	9	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3559.91	73	chr22	23311788	.	T	TCCGG	3559.91	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.584;DP=874;ExcessHet=7.0302;FS=18.299;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.4;MQRankSum=-7.428;QD=5.06;ReadPosRankSum=0.133;SOR=1.82	GT:AD:DP:GQ:PL	0/1:84,30:114:99:986,0,3379	3	0	7	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	.	.	.	.	.	.	.	.	0.15	586.45	59	chr22	23311830	.	G	A	586.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.54;DP=598;ExcessHet=0.7463;FS=41.55;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=57.49;MQRankSum=-8.96;QD=2;ReadPosRankSum=-2.878;SOR=3.036	GT:AD:DP:GQ:PL	0/1:89,15:104:99:197,0,2192	7	0	3	0
chr22	25039259	25039259	A	G	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon3:c.A2129G:p.N710S	.	419	1102	1	0	0	1	0.000453515	.	.	.	2355232	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0136069529937	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs530114371	0.0005	0.0005	0.0002	0.0007	0.0080	0.0004	0.0004	0.0075	0.0073	3.165e-05	0	0	0	0	0.0004	3.707e-06	0.0006	0.0080	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0.0002	0	0	0	0	0.0081	0.389	0.10874	T	0.152	0.32249	T	0.002	0.09854	B	0.004	0.10090	B	0.289500	0.03885	N	1.510590	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.11	0.08653	N	0.028	0.00666	-1.0314	0.20002	T	0.041	0.17742	T	9	0.0059318244	0.00133	T	0.013607	0.33144	T	0.027	0.05988	0.141	0.04462	0.0482279557977	0.04254	0.021907980680781005	0.02142	.	.	0.214803129435	0.01031	T	0.003238	0.02647	T	-0.362516	0.03990	T	-0.758506	0.03167	T	0.0552996024489403	0.06408	T	0.428957	0.11607	T	0.021419799	0.00743	0.020019269	0.00115	0.021419799	0.00743	0.020019269	0.00115	-3.092	0.11205	T	.	.	0.110	0.21125	B	.;.	.;.	-0.392873	0.02240	0.228	0.57883426245279512	0.05868	0.03318	0.08386	N	AEFDGBCI	0.027735	0.02320	N	-1.49487200703248	0.01886	0.08274148	-1.50829625266019	0.02280	0.1046071	0.0156996546555569	0.12744	0.67177	0.52595	0	0.563428	0.19063	0	0.49644	0.08281	0	0.711	0.71501	0	.	.	4.23	-1.88	0.07294	-0.189000	0.09625	0.650000	0.20403	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3885:0.1657:0.4458:0.0	5.386	0.15521	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	.	.	.	.	.	.	.	.	0.05	1824.43	67	chr22	25039259	.	A	G	1824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.053;DP=590;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=3.06;SOR=0.704	GT:AD:DP:GQ:PL	0/1:136,85:221:99:1836,0,3372	9	0	1	0
chr22	29359902	29359902	C	G	exonic	AP1B1	.	nonsynonymous SNV	AP1B1:NM_001378564:exon3:c.G30C:p.K10N,AP1B1:NM_001378565:exon3:c.G30C:p.K10N,AP1B1:NM_001127:exon4:c.G201C:p.K67N,AP1B1:NM_001166019:exon4:c.G201C:p.K67N,AP1B1:NM_001378562:exon4:c.G201C:p.K67N,AP1B1:NM_001378563:exon4:c.G201C:p.K67N,AP1B1:NM_001378566:exon4:c.G201C:p.K67N,AP1B1:NM_145730:exon4:c.G201C:p.K67N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0646385240552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.36	0.34452	T	-4.73	0.81514	D	0.896	0.89800	-0.1729	0.78357	T	0.342	0.70794	T	10	0.9235403	0.91705	D	0.064639	0.69339	D	0.456	0.75483	0.85	0.95202	0.75375576864	0.75152	0.900457964013698	0.90017	1.72199341639	0.90600	0.91699886322	0.98086	D	.	.	.	0.107895	0.65133	D	-0.0827932	0.64699	T	0.998911261558533	0.95567	D	0.873813	0.58316	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	0.99585	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.819043	0.55127	23.6	0.99779609979252026	0.86693	0.91995	0.54713	D	AEFGBHCIJ	0.613462	0.60115	D	0.621287581978768	0.74523	6.147158	0.44672416156738	0.64506	4.707457	0.989341622411072	0.31795	0.722319	0.85440	0	0.702456	0.74545	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.09	1.82	0.24209	1.453000	0.34778	0.013000	0.13471	-0.176000	0.10722	1.000000	0.71638	0.477000	0.25082	0.620000	0.31896	0.0:0.7813:0.0:0.2187	10.780	0.45572	528	0.73785	.;.;.;.;.;.;Clathrin/coatomer adaptor, adaptin-like, 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	.	.	.	.	.	.	.	.	0.05	1845.43	39	chr22	29359902	.	C	G	1845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.266;DP=549;ExcessHet=0;FS=2.503;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=0.119;SOR=0.901	GT:AD:DP:GQ:PL	0/1:112,83:195:99:1857,0,2698	9	0	1	0
chr22	29517289	29517289	C	T	exonic	THOC5	.	nonsynonymous SNV	THOC5:NM_001002879:exon16:c.G1567A:p.V523M,THOC5:NM_003678:exon16:c.G1567A:p.V523M,THOC5:NM_001002877:exon17:c.G1567A:p.V523M,THOC5:NM_001002878:exon17:c.G1567A:p.V523M	.	424	1093	4	1	0	6	0.00273723	.	.	.	717394	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0048	0.00199681	0.0079	0.0003	0.0010	0.0002	0.0497	0.0081	0.0144	0.0036	0.0068757	1063	154602	rs35832657	0.0057	0.0057	0.0055	0.0059	0.0047	0.0056	0.0056	0.0046	0.0046	0.0005	0.0010	0.0005	5.038e-05	0.0468	0.0014	0.0047	0.0042	0.0033	0.0076	0.0076	0.0060	0.0092	0.0078	0.0072	0.0071	0.0073	0.0070	0.0006	0	0.0014	0.0006	0	0.0524	0.0068	0.0078	0.0033	0.0029	0.149	0.24758	T	0.134	0.34241	T	0.511	0.37337	P	0.19	0.36341	B	0.017798	0.27636	N	0.377606	0.981909	0.39830	D	1.5	0.37844	L	1.96	0.22270	T	0.02	0.06739	N	0.095	0.07673	-1.0865	0.06138	T	0.027	0.11485	T	10	0.003942013	0.00076	T	.	.	.	0.019	0.03383	.	.	0.227260227426	0.22338	0.32356302766989165	0.32269	0.38442944275	0.39743	0.4578769207	0.33019	T	0.047751	0.27815	T	-0.53238	0.00372	T	-0.524529	0.19837	T	0.00957599986548387	0.00124	T	0.793521	0.43550	T	0.04675316	0.07878	0.040385965	0.04352	0.04675316	0.07877	0.040385965	0.04352	-5.928	0.45673	T	.	.	0.073	0.04477	B	.;.;.;.	.;.;.;.	2.641559	0.34369	19.61	0.98948394188266864	0.49093	0.54726	0.29686	D	AEFGBCI	0.140236	0.26208	N	-0.0681999825516591	0.38794	2.277601	0.00620692629987976	0.40002	2.380486	0.0463850564062381	0.14688	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	3.22	0.36041	1.137000	0.31091	2.734000	0.34411	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.734000	0.35233	0.0:0.6966:0.0:0.3034	8.073	0.29863	718	0.55760	.;.;.;.	.	.	.	.	rs35832657	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1651.43	33	chr22	29517289	.	C	T	1651.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=489;ExcessHet=0;FS=2.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.265;SOR=0.957	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1663,0,1978	9	0	1	0
chr22	30376488	30376511	CAGCCCTGCACATCCCCACCTCGG	-	exonic	CCDC157	.	nonframeshift deletion	CCDC157:NM_001017437:exon12:c.2002_2025del:p.P690_P697del,CCDC157:NM_001318334:exon12:c.2002_2025del:p.P690_P697del	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00858626	0.0013	0.0029	0.0003	0.0071	0.0003	0.0002	0	0.0027	0.0016905	44	26028	rs566846265	0.0015	0.0015	0.0013	0.0018	0.0180	0.0015	0.0015	0.0169	0.0165	0.0049	0.0008	0.0008	0.0180	0.0007	0.0009	0.0003	0.0025	0.0085	0.0040	0.0043	0.0038	0.0041	0.0154	0.0037	0.0036	0.0127	0.0117	0.0095	0	0.0015	0.0012	0.0154	0.0008	0	0.0009	0.0038	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	535.39	43	chr22	30376487	.	CCAGCCCTGCACATCCCCACCTCGG	C	535.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.089;DP=469;ExcessHet=0;FS=1.186;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.017;SOR=0.902	GT:AD:DP:GQ:PL	0/1:27,17:44:99:547,0,980	9	0	1	0
chr22	38628888	38628890	AGA	-	exonic	FAM227A	.	nonframeshift deletion	FAM227A:NM_001384271:exon6:c.94_96del:p.S32del,FAM227A:NM_001013647:exon7:c.565_567del:p.S189del,FAM227A:NM_001291030:exon7:c.286_288del:p.S96del,FAM227A:NM_001384270:exon7:c.286_288del:p.S96del	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00359425	0.0034	0.0103	0.0049	0	0	0.0018	0	0.0043	0.0003842	10	26028	rs201151092	0.0010	0.0010	0.0010	0.0011	0.0078	0.0010	0.0010	0.0070	0.0067	0.0078	0.0011	0.0044	0.0021	4.06e-05	0.0069	0.0005	0.0022	0.0027	0.0031	0.0032	0.0032	0.0031	0.0086	0.0029	0.0028	0.0079	0.0076	0.0086	0	0.0017	0.0046	0.0015	0	0.0102	0.0006	0.0028	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001244	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	249.39	35	chr22	38628887	.	GAGA	G	249.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=258;ExcessHet=0;FS=4.752;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.908;SOR=1.479	GT:AD:DP:GQ:PL	0/1:11,7:18:99:261,0,441	9	0	1	0
chr22	39513595	39513595	G	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.G664A:p.D222N,MIEF1:NM_019008:exon6:c.G664A:p.D222N	.	416	1098	8	0	0	8	0.00362976	.	.	.	2822212	Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.176	0.00398576918541	0.0022	0.000798722	0.0027	0.0006	0.0010	0	0.0003	0.0030	0.0033	0.0061	0.0027425	424	154602	rs138446352	0.0029	0.0029	0.0028	0.0031	0.0068	0.0029	0.0028	0.0059	0.0057	0.0004	0.0013	0.0047	0	0.0003	0.0068	0.0030	0.0023	0.0063	0.0022	0.0022	0.0022	0.0022	0.0039	0.0020	0.0019	0.0030	0.0029	0.0006	0.0055	0.0019	0.0037	0	0.0002	0.0068	0.0034	0.0033	0.0039	0.004	0.68238	D	0.007	0.69154	D	0.684	0.41517	P	0.5	0.47649	P	0.000001	0.84330	D	0.126579	0.998673	0.45259	D	2.375	0.68372	M	3.1	0.08283	T	-2.44	0.53420	N	0.649	0.66016	-1.2257	0.00038	T	0.043	0.18285	T	10	0.010844678	0.00240	T	0.003986	0.09431	T	0.176	0.44373	.	.	0.610735333248	0.60760	0.6501875904085627	0.64954	0.519585128678	0.49787	0.832304000854	0.86915	D	0.052605	0.29209	T	-0.491669	0.00636	T	-0.476552	0.24814	T	0.0348281721890081	0.02780	T	0.958404	0.84340	D	0.6891166	0.77464	0.6608541	0.80128	0.6891166	0.77465	0.6608541	0.80129	-4.804	0.34638	T	.	.	0.203	0.42735	B	.;.;.	.;.;.	4.335055	0.66457	25.0	0.99904953837129651	0.97576	0.98909	0.88484	D	AEFDBI	0.942117	0.94628	D	0.575323907249772	0.71638	5.681228	0.670959388944183	0.80180	7.241852	0.999999999993547	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	8.000000	0.88004	11.853000	0.98135	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.1333:0.8667:0.0	16.051	0.80567	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 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	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.012195	0.011364	0.05	1730.43	34	chr22	39513595	.	G	A	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.47;DP=455;ExcessHet=0;FS=1.387;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=2.04;SOR=0.554	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1742,0,1401	9	0	1	0
chr22	40681609	40681609	G	A	exonic	MCHR1	.	nonsynonymous SNV	MCHR1:NM_005297:exon2:c.G743A:p.R248Q	.	409	1111	2	0	0	2	0.000899281	.	.	.	3200706	MCHR1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.214	0.00613381426101	0.0028	0.00139776	0.0038	0.0016	0.0042	0.0001	0.0045	0.0054	0.0033	0.0002	0.0038357	593	154602	rs45439291	0.0036	0.0036	0.0037	0.0035	0.0041	0.0035	0.0035	0.0040	0.0039	0.0007	0.0032	0.0013	0.0002	0.0050	0.0029	0.0041	0.0040	0.0002	0.0032	0.0032	0.0035	0.0028	0.0047	0.0030	0.0029	0.0043	0.0041	0.0011	0.0011	0.0043	0.0009	0	0.0035	0	0.0047	0.0066	0	0.101	0.30375	T	0.334	0.18340	T	0.916	0.50672	P	0.472	0.46817	P	0.000007	0.62929	D	0.105851	0.999581	0.47691	D	1.465	0.36909	L	0.95	0.43279	T	-1.31	0.32791	N	0.25	0.71854	-1.0161	0.24980	T	0.086	0.33494	T	10	0.0070323944	0.00160	T	0.006134	0.16052	T	0.214	0.50650	.	.	0.718718502515	0.71624	0.7911548810894585	0.79067	0.223380580121	0.24866	0.60483288765	0.53586	T	0.130781	0.45988	T	-0.145341	0.29042	T	0.0195427	0.71600	D	0.0113317289092057	0.00168	T	0.873313	0.58144	D	0.19810665	0.41700	0.13951473	0.33285	0.19810665	0.41700	0.13951473	0.33285	-4.208	0.26867	T	.	.	0.122	0.35705	B	.;.	.;.	4.576941	0.72268	25.8	0.9987684645875583	0.95410	0.95028	0.63176	D	AEFDBI	0.631920	0.61272	D	0.338690941548145	0.58145	3.985161	0.363045021883884	0.59297	4.106359	0.999999991555061	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.24	4.2	0.48814	3.939000	0.56302	8.682000	0.78047	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8369:0.1631	12.976	0.57942	225	0.91282	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2499.43	34	chr22	40681609	.	G	A	2499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.65;SOR=0.665	GT:AD:DP:GQ:PL	0/1:89,96:185:99:2511,0,2123	9	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.15	1737.45	37	chr22	42128812	.	A	G	1737.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.4;DP=1007;ExcessHet=0.7463;FS=13.924;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=51.79;MQRankSum=-8.092;QD=2.38;ReadPosRankSum=-4.665;SOR=2.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,39:324:99:0|1:42128812_A_G:780,0,11812:42128812	7	0	3	0
chr22	43339179	43339179	T	C	exonic	SCUBE1	.	nonsynonymous SNV	SCUBE1:NM_173050:exon2:c.A145G:p.I49V	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0429586923884	0.0044	0.00259585	0.0036	0.0012	0.0070	0	0.0002	0.0050	0.0022	0.0008	0.0040232	622	154602	rs41307223	0.0058	0.0058	0.0059	0.0056	0.0067	0.0057	0.0056	0.0066	0.0065	0.0013	0.0066	0.0047	2.519e-05	0.0008	0.0024	0.0067	0.0057	0.0014	0.0036	0.0036	0.0038	0.0034	0.0059	0.0034	0.0033	0.0051	0.0049	0.0010	0	0.0059	0.0066	0	0.0005	0	0.0055	0.0066	0.0002	0.128	0.32453	T	0.212	0.26549	T	0.576	0.38723	P	0.491	0.47360	P	0.000468	0.44119	D	0.153757	0.713825	0.38165	D	0.31	0.10265	N	-2.62	0.90017	D	-0.46	0.18042	N	0.424	0.50146	-0.1767	0.78263	T	0.528	0.82443	D	10	0.023702234	0.00628	T	0.042959	0.60734	D	0.310	0.63162	.	.	0.668504534348	0.66570	0.31666423516101494	0.31579	0.564018394391	0.52809	0.601668417454	0.53140	T	0.250563	0.62068	T	-0.341728	0.05269	T	-0.25425	0.49397	T	0.0319113684244572	0.02292	T	0.842116	0.51891	T	0.07546713	0.17005	0.08004372	0.18072	0.07546713	0.17005	0.08004372	0.18072	-5.165	0.38584	T	.	.	0.109	0.20934	B	.;.;.	.;.;.	3.918274	0.57191	23.8	0.99589753804653647	0.73513	0.85321	0.44443	D	AEFDGBI	0.383883	0.46522	N	-0.0903113963266658	0.37817	2.20565	-0.0282576151071083	0.38443	2.265059	0.0755478525238884	0.15700	0.516011	0.20929	0	0.563428	0.19063	0	0.584781	0.30282	0	0.586402	0.36253	0	.	.	4.44	3.38	0.37806	1.780000	0.38264	4.118000	0.41957	0.663000	0.56723	0.989000	0.36753	1.000000	0.68203	0.998000	0.85391	0.151:0.0:0.0:0.849	10.071	0.41505	742	0.52873	EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF 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	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2458.43	34	chr22	43339179	.	T	C	2458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.461;DP=510;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.237;SOR=0.785	GT:AD:DP:GQ:PL	0/1:93,104:197:99:2470,0,2252	9	0	1	0
chr22	44920438	44920438	A	G	exonic	PHF21B	.	nonsynonymous SNV	PHF21B:NM_001242450:exon3:c.T137C:p.L46S,PHF21B:NM_138415:exon3:c.T173C:p.L58S,PHF21B:NM_001135862:exon4:c.T173C:p.L58S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0585019420961	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423782570	4.107e-06	4.104e-06	5.448e-06	2.753e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.45318	T	1.0	0.90584	D	0.996	0.92359	D	0.000056	0.53742	D	0.000000	0.999974	0.81001	D	1.895	0.50365	L	1.95	0.22474	T	-1.83	0.55025	N	0.845	0.84090	-1.0347	0.18951	T	0.106	0.38661	T	10	0.45451695	0.58906	T	0.058502	0.67341	D	0.324	0.64624	0.121	0.02793	0.179529687257	0.17594	0.5906322730857828	0.58993	1.13069525492	0.78602	0.762233614922	0.76263	T	0.010033	0.09096	T	0.125902	0.66960	D	-0.056927	0.66546	D	0.892239689826965	0.54330	D	0.90251	0.65969	D	0.3933129	0.60266	0.47742426	0.69725	0.3933129	0.60266	0.47742426	0.69725	-5.806	0.44626	T	.	.	0.751	0.88666	P	.;.;.;.	.;.;.;.	4.850225	0.79271	27.1	0.99879700701294316	0.95572	0.98091	0.79521	D	AEFDBI	0.925428	0.90497	D	0.618198973773252	0.74327	6.113671	0.589966781820191	0.74218	6.099976	0.999996154564353	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	8.110000	0.89414	10.866000	0.83993	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.779	0.62559	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	.	.	.	.	.	.	.	.	0.05	419.43	35	chr22	44920438	.	A	G	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.91;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.761;SOR=0.846	GT:AD:DP:GQ:PL	0/1:29,22:51:99:431,0,699	9	0	1	0
chr22	49884936	49884936	C	T	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.C1274T:p.A425V	.	426	1039	54	3	0	60	0.0280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0036	0.00399361	0.0050	0.0012	0.0048	0	0.0014	0.0052	0.0112	0.0108	0.0047606	736	154602	rs146411541	0.0044	0.0044	0.0040	0.0047	0.0234	0.0043	0.0042	0.0202	0.0190	0.0013	0.0044	0.0203	5.043e-05	0.0007	0.0234	0.0037	0.0067	0.0105	0.0037	0.0037	0.0036	0.0038	0.0104	0.0034	0.0033	0.0081	0.0073	0.0010	0	0.0053	0.0196	0	0.0014	0.0102	0.0043	0.0071	0.0104	0.639	0.05017	T	0.486	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.625807	0.10734	N	0.810413	1	0.08975	N	-1.39	0.00611	N	0.97	0.42502	T	-0.11	0.08653	N	0.043	0.01577	-0.9929	0.31853	T	0.018	0.07329	T	10	0.002109021	0.00030	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.14576151107688307	0.14499	0.416527251118	0.42292	0.305198401213	0.11181	T	0.022249	0.17186	T	-0.703328	0.00035	T	-0.775382	0.02595	T	0.000719385774239782	0.00007	T	0.331767	0.06954	T	0.012989459	0.00046	0.023819037	0.00395	0.012989459	0.00046	0.023819037	0.00395	-3.132	0.11668	T	.	.	0.064	0.01577	B	.	.	-0.973239	0.00810	0.027	0.27354374797518821	0.01354	0.00434	0.02127	N	AEFBI	0.015799	0.00319	N	-1.86894502346642	0.00397	0.01708544	-1.83612183965624	0.00650	0.02891738	0.935458911534085	0.27214	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.6	-3.87	0.03939	-0.396000	0.07338	-1.679000	0.04930	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.0:0.38:0.1225:0.4976	6.952	0.23732	974	0.05496	.	.	.	.	.	.	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	0.017623	0.020202	0.021739	0.014620	0.000000	0.025862	0.009146	0.007576	0.05	1415.43	47	chr22	49884936	.	C	T	1415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.395;DP=746;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.51;ReadPosRankSum=-0.142;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,37:69:99:0|1:49884920_A_G:1427,0,1188:49884920	9	0	1	0
chr22	50250480	50250480	T	C	exonic	HDAC10	.	nonsynonymous SNV	HDAC10:NM_001159286:exon3:c.A238G:p.K80E,HDAC10:NM_032019:exon3:c.A238G:p.K80E	.	.	.	.	.	.	.	.	.	.	.	2338957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.0145243464094	0.0005	0.000199681	0.0001	0	0.0003	0	0	0.0002	0	0	0.0001358	21	154602	rs148308549	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	5.974e-05	0.0003	3.827e-05	5.038e-05	0	0.0010	0.0002	0.0004	0	0.0001	0.0001	0.0001	0.0001	0.0003	9.156e-05	7.71e-05	0.0002	0.0001	2.411e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.568482	0.05466	N	1.240830	1	0.08975	N	-0.05	0.04954	N	-0.51	0.70597	T	-0.05	0.07736	N	0.208	0.23125	-0.9421	0.42282	T	0.118	0.41538	T	10	0.029790789	0.01105	T	0.014524	0.34691	T	0.087	0.25287	.	.	0.644343247723	0.64140	0.3086635120164532	0.30779	0.0697882760953	0.07817	0.286497175694	0.08415	T	0.022443	0.17299	T	-0.43044	0.01473	T	-0.559882	0.16388	T	0.0128985856314781	0.00222	T	0.492351	0.15167	T	0.08123539	0.18654	0.058270615	0.10737	0.08123539	0.18654	0.058270615	0.10737	-2.816	0.08332	T	.	.	0.066	0.03588	B	.;.;.	.;.;.	0.695321	0.10640	7.340	0.5105994877713077	0.04494	0.13332	0.17796	N	AEFDGBHCI	0.171346	0.29831	N	-1.89436164921566	0.00353	0.01514469	-1.86660270326305	0.00568	0.02523626	0.999999850486748	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	4.95	-2.93	0.05261	-0.076000	0.11374	-0.100000	0.11953	-0.913000	0.02247	0.000000	0.06391	0.000000	0.08366	0.413000	0.27073	0.0:0.4732:0.1769:0.3499	9.132	0.36014	641	0.64016	Histone deacetylase domain;Histone deacetylase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1603.43	35	chr22	50250480	.	T	C	1603.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.327;DP=497;ExcessHet=0;FS=4.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.828;SOR=1.035	GT:AD:DP:GQ:PL	0/1:87,76:163:99:1615,0,2199	9	0	1	0
chrX	8170097	8170097	-	GCTCTCCTGACTCAGTGGTTCCTCCACCTG	exonic	VCX2	.	nonframeshift insertion	VCX2:NM_016378:exon3:c.354_355insCAGGTGGAGGAACCACTGAGTCAGGAGAGC:p.S118_E119insQVEEPLSQES	.	431	1063	15	11	2	39	0.0171059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0037	0.0011	0.0002	0.0036	0.0030	0	0.0008	0.0025161	389	154602	rs770371411	0.0055	0.0055	0.0054	0.0055	0.0073	0.0053	0.0053	0.0065	0.0062	0.0073	0.0042	0.0029	0.0027	0.0236	0.0073	0.0048	0.0074	0.0032	0.0029	0.0054	0.0035	0.0005	0.0033	0.0026	0.0025	0.0028	0.0027	0.0026	0	0.0015	0.0025	0.0004	0.0067	0	0.0033	0.0008	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3251.08	182	chrX	8170097	.	C	CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	3251.08	.	AC=2;AF=0.1;AN=20;DP=1229;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=57.81;QD=28.97;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,75:75:99:3274,217,0	9	1	0	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	920.64	163	chrX	10469688	.	G	A	920.64	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.436;DP=881;ExcessHet=10.3881;FS=119.423;InbreedingCoeff=-0.6423;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.916;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,14:97:35:0|1:10469688_G_A:35,0,3250:10469688	2	0	8	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1125.6	164	chrX	10469690	.	T	C	1125.6	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.496;DP=905;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.638;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.08;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,14:97:35:0|1:10469688_G_A:35,0,3250:10469688	2	0	8	0
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	.	.	.	.	.	.	.	.	0.25	855.13	159	chrX	10469693	.	T	C	855.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.741;DP=818;ExcessHet=2.8389;FS=132.372;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=0.056;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,14:97:35:0|1:10469688_G_A:35,0,3250:10469688	5	0	5	0
chrX	43949845	43949845	G	T	exonic	NDP	.	nonsynonymous SNV	NDP:NM_000266:exon3:c.C356A:p.T119N	Exudative vitreoretinopathy 2, X-linked;Norrie disease, X-linked recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.848934047868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.821e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.023	0.57104	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-2.86	0.91421	D	-0.48	0.15379	N	0.763	0.76111	0.669	0.92791	D	0.756	0.91699	D	10	0.7414721	0.74987	D	0.848934	0.98835	D	0.432	0.73807	0.303	0.27164	0.874857478104	0.87363	0.9214386032337198	0.92119	1.51525843767	0.87307	0.725381135941	0.70832	T	0.829721	0.95921	D	0.159	0.70108	D	-0.00938454	0.69725	D	0.928087174892426	0.59132	D	0.90121	0.65680	D	0.92449695	0.93689	0.7455573	0.84960	0.92449695	0.93690	0.7455573	0.84961	-5.736	0.44013	T	0.5982011192753721	0.66514	0.982	0.91490	P	.;.;.	.;.;.	5.763249	0.93440	33	0.99460827355771064	0.65788	0.97286	0.73800	D	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.96	5.96	0.96695	9.564000	0.97283	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.357	0.94409	854	0.34840	Glycoprotein hormone subunit beta|Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal;Glycoprotein hormone subunit beta|Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal;Glycoprotein hormone subunit beta|Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	244.43	33	chrX	43949845	.	G	T	244.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.315;DP=416;ExcessHet=0;FS=54.306;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=1.6;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,19:104:99:0|1:43949844_G_T:256,0,3140:43949844	9	0	1	0
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K	.	429	1051	29	13	0	55	0.0254984	.	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	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	1	0	0.015214	0.000000	0.014842	0.031621	0.000000	0.011765	0.017699	0.005263	0.3	7136.92	35	chrX	44232585	.	C	T	7136.92	.	AC=6;AF=0.3;AN=20;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=29.01;SOR=0.76	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2105,219,0	7	3	0	0
chrX	50351646	50351646	G	A	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033670:exon8:c.G819A:p.M273I,CCNB3:NM_033031:exon13:c.G4131A:p.M1377I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.00238411	0.0009	0	0	0	0	0	0	0.0080	0.0009185	142	154602	rs782511818	0.0004	0.0005	0.0003	0.0008	0.0081	0.0004	0.0004	0.0075	0.0072	0	2.841e-05	0	3.311e-05	0	0	9.501e-06	0.0010	0.0081	0.0002	0.0002	0.0001	0.0002	0.0068	0.0001	8.57e-05	0.0044	0.0036	0	0	0	0	0	0	0	0	0	0.0068	0.06	0.37326	T	0.497	0.14200	T	0.011	0.15914	B	0.024	0.20255	B	0.833268	0.09089	N	0.925137	1	0.08975	N	0.425	0.12573	N	2.26	0.28604	T	-1.37	0.40850	N	0.042	0.07262	-0.9946	0.31405	T	0.048	0.20632	T	9	0.003655225	0.00067	T	.	.	.	0.071	0.20720	0.556	0.67409	0.128874641272	0.12493	0.26894415798703614	0.26807	0.172477267296	0.19426	0.250379860401	0.03808	T	0.034572	0.23374	T	-0.837586	0.00003	T	-0.97022	0.00205	T	0.0212427887055575	0.00826	T	0.474753	0.14697	T	0.14114736	0.32535	0.16856702	0.38827	0.14114736	0.32534	0.16856702	0.38826	-2.359	0.05815	T	.	.	0.226	0.47697	B	.;.;.;.	.;.;.;.	-0.198960	0.03094	0.489	0.56639679177426872	0.05596	0.05133	0.10941	N	AEFBI	.	.	.	.	.	.	.	.	.	6.03337684721714E-4	0.07437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	-2.08	0.06852	1.008000	0.29475	0.037000	0.13814	-0.135000	0.12811	0.012000	0.18695	0.000000	0.08366	0.015000	0.10482	0.496:0.0:0.504:0.0	11.039	0.47033	410	0.82135	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2908.12	38	chrX	50351646	.	G	A	2908.12	.	AC=2;AF=0.1;AN=20;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.51;SOR=1	GT:AD:DP:GQ:PL	1/1:0,102:102:99:2931,305,0	9	1	0	0
chrX	52648266	52648266	G	A	exonic	SSX7	.	nonsynonymous SNV	SSX7:NM_173358:exon6:c.C461T:p.T154I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000817274776393	.	.	2.36e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs782020031	7.304e-06	7.284e-06	9.532e-06	2.771e-06	0.0001	3.14e-06	2.27e-06	6.139e-05	4.292e-05	0	0	0	0	0	0	0	2.176e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.11085	T	0.11	0.37310	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.14	0.07920	T	-1.71	0.40660	N	0.025	0.00485	-0.9556	0.39988	T	0.010	0.03811	T	8	0.031101704	0.01242	T	8.17E-4	0.00670	T	0.007	0.00512	0.147	0.05039	0.0297737177859	0.01360	0.014652215416546387	0.01422	0.0118324598183	0.01115	.	.	.	0.005813	0.05258	T	-0.759279	0.00015	T	-1.03628	0.00082	T	0.0150498860078606	0.00325	T	0.450755	0.12737	T	0.049002983	0.08633	0.10290494	0.24676	0.049002983	0.08633	0.10290494	0.24675	-4.29	0.28037	T	.	.	0.104	0.18910	B	.	.	-1.607515	0.00236	0.004	0.3534925184982502	0.02213	0.00073	0.00509	N	AEFDBIJ	.	.	.	.	.	.	.	.	.	0.0533420267329011	0.14936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	-1.12	0.09306	-2.287000	0.01232	-9.962000	0.00755	-1.686000	0.00778	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	484	0.77165	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1743.12	39	chrX	52648266	.	G	A	1743.12	.	AC=2;AF=0.1;AN=20;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.13;SOR=1.101	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1766,168,0	9	1	0	0
chrX	55091459	55091459	T	C	splicing	PAGE2	NM_207339:exon4:c.319+2T>C	.	.	.	.	.	.	.	.	.	.	0.9220	0.494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186599605	2.739e-06	2.733e-06	4.086e-06	0	3.567e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.567e-06	0	0	9.497e-06	8.788e-06	1.301e-05	0	1.943e-05	0	0	.	.	0	0	0	0	0	0	0	1.943e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999827	0.20203	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.465382	0.00909	T	-0.906266	0.00460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.147820	0.27353	17.43	0.51903810393775407	0.04648	0.07289	0.13311	N	AEFGI	.	.	.	.	.	.	.	.	.	1.11925870257151E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	0.104644	0.22880	1.13	1.13	0.19758	1.214000	0.32023	2.449000	0.32805	0.500000	0.22704	0.923000	0.32050	0.093000	0.22564	0.062000	0.16114	0.0:0.0:0.0:1.0	4.169	0.09783	284	0.88763	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1615.12	33	chrX	55091459	.	T	C	1615.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.99;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=43.46;MQRankSum=2.26;QD=27.37;ReadPosRankSum=1.45;SOR=1.238	GT:AD:DP:GQ:PL	1/1:2,57:59:99:1638,128,0	9	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	1/1:43,577:620:99:15875,614,0	0	2	8	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	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	1/1:44,587:631:99:16681,606,0	0	1	9	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	.	.	.	.	.	.	.	.	0.3	8214.98	454	chrX	55146226	.	A	G	8214.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.09;DP=4470;ExcessHet=4.5998;FS=0.676;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=0.786;SOR=0.622	GT:AD:DP:GQ:PL	0/1:499,121:620:99:1851,0,13205	4	0	6	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	6121.17	451	chrX	55146242	.	C	T	6121.17	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.896;DP=4085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.81;ReadPosRankSum=0.288;SOR=0.605	GT:AD:DP:GQ:PL	0/1:484,82:566:99:855,0,13632	5	0	5	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	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	1/1:40,483:523:99:13713,340,0	0	1	9	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	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	1/1:35,395:430:99:13080,197,0	0	1	9	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	.	.	.	.	.	.	.	.	0.35	10330.0	270	chrX	55146283	.	C	T	10330.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.191;DP=2533;ExcessHet=7.0302;FS=1.237;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-0.86;SOR=0.773	GT:AD:DP:GQ:PL	0/1:231,155:386:99:3958,0,6640	3	0	7	0
chrX	57286949	57286949	C	T	exonic	FAAH2	.	nonsynonymous SNV	FAAH2:NM_001353840:exon1:c.C124T:p.R42W,FAAH2:NM_001353841:exon1:c.C124T:p.R42W,FAAH2:NM_174912:exon1:c.C124T:p.R42W	.	428	1080	9	5	0	19	0.0087196	.	.	.	706283	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.103	.	0.0078	0.00211921	0.0089	0.0016	0.0022	0	0.0098	0.0142	0.0061	0.0030	0.0073996	1144	154602	rs146874627	0.0088	0.0089	0.0089	0.0087	0.0100	0.0087	0.0086	0.0098	0.0098	0.0012	0.0031	0.0164	0	0.0061	0.0081	0.0100	0.0085	0.0021	0.0064	0.0065	0.0068	0.0054	0.0100	0.0060	0.0058	0.0093	0.0090	0.0013	0.0029	0.0044	0.0174	0	0.0041	0.0094	0.0100	0.0074	0.0020	0.021	0.49117	D	0.02	0.58613	D	0.929	0.51690	P	0.113	0.31689	B	0.404686	0.13077	U	0.702213	1	0.08975	N	0	0.06538	N	-0.07	0.63738	T	-1.15	0.29525	N	0.086	0.06322	-1.0016	0.29459	T	0.049	0.21026	T	10	0.004681617	0.00098	T	.	.	.	0.103	0.29403	.	.	0.377799810692	0.37387	0.42640651768739274	0.42557	0.00108011335869	0.00091	0.271109580994	0.06286	T	0.036219	0.24020	T	-0.585711	0.00178	T	-0.604715	0.12417	T	0.0351959300131901	0.02841	T	0.510949	0.16331	T	0.08045157	0.18436	0.08182378	0.18625	0.08045157	0.18436	0.08182378	0.18625	-7.775	0.59526	D	.	.	0.111	0.21390	B	.	.	1.255009	0.16525	12.59	0.98180243606286532	0.38941	0.00498	0.02351	N	ALL	.	.	.	.	.	.	.	.	.	0.999999998981444	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.584	0.11115	-0.808000	0.04622	-0.213000	0.10835	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.2945:0.4171:0.2885:0.0	3.303	0.06579	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.006203	0.006803	0.003711	0.003953	0.142857	0.011765	0.008889	0.000000	0.1	1462.12	39	chrX	57286949	.	C	T	1462.12	.	AC=2;AF=0.1;AN=20;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.11;SOR=0.823	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1485,141,0	9	1	0	0
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	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,28:177:99:0|1:74591902_T_A:727,0,6163:74591902	2	0	8	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.3	3679.98	394	chrX	74591957	.	C	T	3679.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.459;DP=1750;ExcessHet=4.5998;FS=3.02;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=58.76;MQRankSum=-13.15;QD=2.3;ReadPosRankSum=-2.776;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,25:199:99:0|1:74591902_T_A:526,0,7211:74591902	4	0	6	0
chrX	101656880	101656897	CTGCAGCCCCAGTAGGTG	-	exonic	ARMCX2	.	nonframeshift deletion	ARMCX2:NM_014782:exon5:c.692_709del:p.A231_A236del,ARMCX2:NM_001282231:exon6:c.692_709del:p.A231_A236del,ARMCX2:NM_177949:exon6:c.692_709del:p.A231_A236del	.	440	1079	2	1	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010596	0.0002	0.0015	0.0002	0.0006	0	0	0	0	0.0001537	4	26028	rs781992902	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0023	0.0022	0.0014	0.0003	0	0.0028	2.469e-05	0.0002	9.738e-05	0.0004	3.694e-05	0.0004	0.0005	0.0004	0.0005	0.0012	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0006	0	0.0012	0	0	7.574e-05	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2178.08	81	chrX	101656879	.	TCTGCAGCCCCAGTAGGTG	T	2178.08	.	AC=2;AF=0.1;AN=20;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.77;SOR=1.27	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50:50:99:1|1:101656879_TCTGCAGCCCCAGTAGGTG_T:2201,153,0:101656879	9	1	0	0
chrX	120159182	120159182	G	A	exonic	RHOXF2;RHOXF2B	.	nonsynonymous SNV	RHOXF2B:NM_001099685:exon2:c.G247A:p.A83T,RHOXF2:NM_032498:exon2:c.G247A:p.A83T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0058	0.00423841	0.0020	0.0173	0.0010	0	0	6.357e-05	0.0033	0.0017	0.0015071	233	154602	rs145501005	0.0006	0.0006	0.0007	0.0004	0.0155	0.0005	0.0005	0.0143	0.0138	0.0155	0.0015	0	0	0	0.0010	5.114e-05	0.0014	0.0014	0.0043	0.0049	0.0051	0.0025	0.0146	0.0040	0.0039	0.0135	0.0130	0.0146	0	0.0021	0	0	0	0.0046	0.0002	0.0060	0.0008	0.697	0.04213	T	0.434	0.13557	T	0.972	0.57405	D	0.585	0.50320	P	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-2.94	0.91851	D	0.57	0.02638	N	0.032	0.00825	-0.4687	0.69770	T	0.312	0.68220	T	9	0.0043082833	0.00087	T	.	.	.	0.271	0.58633	.	.	0.182106788282	0.17826	0.062111799702617265	0.06151	1.84720833392	0.92245	0.294213175774	0.09540	T	0.009456	0.08612	T	-0.626585	0.00100	T	-0.659196	0.08321	T	0.0182163499870305	0.00542	T	0.265573	0.04334	T	0.02980009	0.02535	0.068799615	0.14414	0.02980009	0.02534	0.068799615	0.14414	-5.026	0.37121	T	.	.	0.070	0.03336	B	.	.	-1.595531	0.00242	0.004	0.92195039762088904	0.21564	0.03231	0.08245	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.018996162786571	0.13118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.02	0.068	0.13682	-2.653000	0.00928	-7.006000	0.01253	-2.361000	0.00305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1927:0.2873:0.52:0.0	2.994	0.05626	900	0.24599	.	.	.	.	.	.	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	0.003915	0.000000	0.005607	0.014706	0.000000	0.000000	0.000000	0.000000	0.2	3944.53	36	chrX	120159182	.	G	A	3944.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.157;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=40.15;MQRankSum=1.24;QD=29.66;ReadPosRankSum=1.49;SOR=0.561	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1895,189,0	8	2	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:39,14:56:12:12,0,658	2	0	8	0
chrX	151664231	151664248	CCCAATGGACCAGCAGGA	-	exonic	PASD1	.	nonframeshift deletion	PASD1:NM_173493:exon11:c.954_971del:p.M320_P325del	.	431	1075	14	2	0	18	0.00830258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.0018543	0.0034	0.0012	0.0027	0	0	0.0052	0.0032	0.0011	0.0004995	13	26028	rs759972296	0.0050	0.0050	0.0050	0.0049	0.0169	0.0049	0.0048	0.0137	0.0126	0.0008	0.0028	0.0010	0	0.0003	0.0169	0.0059	0.0043	0.0014	0.0033	0.0033	0.0034	0.0029	0.0056	0.0030	0.0029	0.0050	0.0048	0.0006	0	0.0023	0.0019	0	0.0002	0.0433	0.0056	0.0073	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2590.08	33	chrX	151664230	.	GCCCAATGGACCAGCAGGA	G	2590.08	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.05;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,58:58:99:2613,176,0	9	1	0	0
chrX	153398330	153398347	CTCCTGCCTCACCTACAC	-	exonic	PNMA6E	.	nonframeshift deletion	PNMA6E:NM_001367770:exon2:c.503_520del:p.G168_G173del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0019	0.0016	1.045e-05	0.0049	0.0010	0.0010	0.0038	0.0035	0.0002	0.0049	0.0012	0	0.0005	0.0016	0.0009	0.0010	0.0024	0.0010	0.0016	0.0014	0	0.0026	0.0009	0.0008	0.0017	0.0015	0.0002	0	0.0026	0.0012	0	0.0007	0	0.0013	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	343.7	40	chrX	153398329	.	GCTCCTGCCTCACCTACAC	G	343.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=339;ExcessHet=0;FS=6.819;InbreedingCoeff=0.6078;MLEAC=1;MLEAF=0.05;MQ=59.56;MQRankSum=-2.069;QD=5.21;ReadPosRankSum=2.72;SOR=0.24	GT:AD:DP:GQ:PL	0/1:26,12:38:99:355,0,1032	9	0	1	0
chrX	153454430	153454430	T	G	exonic	HAUS7	.	nonsynonymous SNV	HAUS7:NM_001385482:exon9:c.A1009C:p.I337L,HAUS7:NM_017518:exon9:c.A1039C:p.I347L,HAUS7:NM_001385481:exon10:c.A1186C:p.I396L,HAUS7:NM_001385483:exon11:c.A1186C:p.I396L	.	440	1081	1	0	0	1	0.000462321	.	.	.	3440098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00377253459785	.	0.000529801	0.0003	0	0	0	0	2.208e-05	0	0.0028	0.000304	47	154602	rs782355109	0.0002	0.0002	0.0001	0.0003	0.0031	0.0001	0.0001	0.0027	0.0026	0	0	0	0	0	0	6.003e-06	0.0002	0.0031	2.798e-05	3.525e-05	1.297e-05	6.638e-05	0.0012	7.43e-06	4.06e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	0.488	0.11621	T	0.001	0.07471	B	0.001	0.04355	B	0.250626	0.03644	N	1.512690	1	0.08975	N	1.555	0.39373	L	.	.	.	.	.	.	0.064	0.03613	-0.9985	0.30339	T	0.047	0.20077	T	10	0.0067394674	0.00153	T	0.003773	0.08775	T	0.011	0.01250	0.235	0.16457	0.54574068947	0.54228	0.09474064088135943	0.09406	0.18377037293	0.20665	0.352742552757	0.18325	T	0.033454	0.22918	T	-0.618581	0.00112	T	-0.666873	0.07810	T	0.0156692515515907	0.00361	T	0.486851	0.14885	T	0.07363954	0.16471	0.059761744	0.11269	0.07363954	0.16470	0.059761744	0.11269	-1.954	0.03012	T	.	.	0.098	0.16231	B	.	.	-0.137169	0.03426	0.625	0.89521708936478395	0.18868	0.01652	0.05304	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999840260000731	0.43971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	-2.69	0.05668	-0.410000	0.07214	.	.	0.651000	0.53179	0.000000	0.06391	0.000000	0.08366	0.233000	0.22815	0.0:0.2026:0.4905:0.3069	5.391	0.15546	203	0.92088	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1138.12	38	chrX	153454430	.	T	G	1138.12	.	AC=2;AF=0.1;AN=20;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.1;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1161,126,0	9	1	0	0
chrX	153771591	153771591	G	A	exonic	PLXNB3	.	nonsynonymous SNV	PLXNB3:NM_005393:exon14:c.G2453A:p.R818H,PLXNB3:NM_001163257:exon15:c.G2522A:p.R841H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0458884280316	.	.	1.329e-05	0	0	0	0	2.395e-05	0	0	1.94e-05	3	154602	rs781971591	3.658e-06	4.553e-06	4.093e-06	2.775e-06	4.758e-06	8.6e-07	5.8e-07	1.11e-06	7.5e-07	0	0	0	0	0	0	4.758e-06	0	0	1.766e-05	1.739e-05	1.284e-05	2.825e-05	9.252e-05	2.93e-06	1.1e-06	.	.	0	0	9.252e-05	0	0	0	0	1.875e-05	0	0	0.006	0.61437	D	0.022	0.58613	D	0.943	0.53072	P	0.512	0.47969	P	0.001207	0.39820	N	0.206585	1	0.81001	D	2.08	0.57402	M	5.2	0.01185	T	-1.08	0.28084	N	0.277	0.31365	-0.7665	0.57049	T	0.264	0.63566	T	10	0.1541211	0.29078	T	0.045888	0.62195	D	0.087	0.25287	0.48	0.55983	0.144782658237	0.14088	0.4517087416295866	0.45088	.	.	0.596589684486	0.52423	T	0.02539	0.18993	T	-0.262834	0.12572	T	-0.61532	0.11556	T	0.569686831463863	0.35223	D	0.830517	0.49623	T	0.117462814	0.27690	0.09479928	0.22456	0.117462814	0.27690	0.09479928	0.22455	-6.463	0.51901	T	.	.	0.089	0.13876	B	.;.	.;.	3.480665	0.48608	22.6	0.99944423116592718	0.99868	0.34317	0.25039	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.989331732556295	0.31792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	3.17	0.35510	0.796000	0.26646	.	.	0.672000	0.70159	0.006000	0.17386	1.000000	0.68203	0.810000	0.38174	0.105:0.0:0.573:0.322	5.160	0.14386	55	0.97548	.;PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1884.12	45	chrX	153771591	.	G	A	1884.12	.	AC=2;AF=0.1;AN=20;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.44;SOR=1.402	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1907,191,0	9	1	0	0
chrX	154928650	154928650	T	G	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.A5140C:p.T1714P	Hemophilia A, X-linked recessive	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.638951313294	.	.	4.66e-05	0	0	0	0	8.492e-05	0	0	.	.	.	rs782088688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.033	0.53072	D	0.42	0.35330	B	0.309	0.41361	B	0.022606	0.26600	N	0.438807	1	0.08975	N	2.595	0.75868	M	-5.29	0.98959	D	-2.65	0.56787	D	0.402	0.44283	0.820	0.94651	D	0.927	0.97591	D	10	0.53945625	0.63636	D	0.638951	0.96918	D	0.461	0.75822	0.502	0.59460	0.854897914107	0.85350	0.8754036737759816	0.87507	0.0648840509856	0.07242	0.45993065834	0.33301	T	0.803789	0.95025	D	0.0617012	0.59827	T	-0.149147	0.59319	T	0.593873679637909	0.36159	D	0.614838	0.23473	T	0.62355924	0.73954	0.50074077	0.71137	0.62355924	0.73955	0.50074077	0.71137	-9.226	0.69140	D	0.4567278971524397	0.53960	0.167	0.36830	B	.	.	3.616941	0.51161	23.1	0.98910297975181272	0.48363	0.39238	0.26168	N	AEFBI	.	.	.	.	.	.	.	.	.	8.9553578480018E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	2.51	0.29435	1.302000	0.33063	4.993000	0.46541	-0.194000	0.09177	0.888000	0.31154	1.000000	0.68203	0.991000	0.66497	0.0:0.1066:0.1956:0.6978	4.474	0.11145	91	0.96221	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	151.05	33	chrX	154928650	.	T	G	151.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.479;DP=470;ExcessHet=0;FS=76.863;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=59.85;MQRankSum=-1.937;QD=1.56;ReadPosRankSum=0.734;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,20:97:99:0|1:154928650_T_G:162,0,2438:154928650	8	0	1	1
chrX	154928659	154928659	G	T	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.C5131A:p.Q1711K	Hemophilia A, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.580312381874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.184e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.89	0.48942	P	0.402	0.44547	B	0.087023	0.20555	N	0.525914	0.526319	0.31527	N	2.11	0.58565	M	-5.19	0.98838	D	-2.11	0.48020	N	0.254	0.28732	0.894	0.95585	D	0.891	0.96375	D	10	0.4315882	0.57526	T	0.580312	0.96237	D	0.417	0.72705	0.325	0.30711	0.909904499923	0.90900	0.599139701443422	0.59844	0.0576120744431	0.06381	0.435637295246	0.29980	T	0.466501	0.80122	T	0.0217563	0.54619	T	-0.206525	0.54027	T	0.476094104983387	0.31754	T	0.750425	0.37198	T	0.4894178	0.66468	0.28348273	0.54341	0.4894178	0.66469	0.28348273	0.54340	-4.423	0.29867	T	0.3898220600648977	0.48314	0.111	0.21466	B	.	.	2.782803	0.36562	20.3	0.99445289241789481	0.64971	0.62169	0.31701	D	AEFBI	.	.	.	.	.	.	.	.	.	1.41832043686386E-4	0.05573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.05	0.34272	1.386000	0.34025	5.577000	0.48958	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.587:0.413	8.686	0.33402	91	0.96221	.	.	.	.	.	.	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	0.000688	0.000000	0.000000	0.000000	0.071429	0.000000	0.000000	0.000000	0.1667	123.91	33	chrX	154928659	.	G	T	123.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.172;DP=961;ExcessHet=0;FS=73.374;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.333;MQ=59.86;MQRankSum=-2.121;QD=1.23;ReadPosRankSum=2.33;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:154928650_T_G:129,0,2730:154928650	2	0	1	7