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	NSWES637	WT	HH	HZ	NC
chr1	966542	966542	G	C	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon1:c.G11C:p.S4T,PLEKHN1:NM_001367552:exon1:c.G11C:p.S4T,PLEKHN1:NM_032129:exon1:c.G11C:p.S4T	.	405	1107	7	0	3	10	0.00315173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0207760037869	.	0.00119808	0.0046	0.0003	0.0017	0	0.0059	0.0072	0.0064	0.0006	0.0040944	633	154602	rs62639980	0.0045	0.0045	0.0045	0.0045	0.0050	0.0044	0.0044	0.0049	0.0049	0.0005	0.0028	0.0092	2.527e-05	0.0055	0.0019	0.0050	0.0039	0.0006	0.0035	0.0035	0.0036	0.0033	0.0052	0.0032	0.0031	0.0045	0.0043	0.0008	0	0.0052	0.0066	0	0.0040	0	0.0050	0.0028	0.0008	0.17	0.23095	T	0.437	0.14241	T	0.974	0.62325	D	0.57	0.55529	P	0.018368	0.27499	N	0.255426	0.502046	0.31717	N	1.1	0.28011	L	0.92	0.44461	T	-0.94	0.27259	N	0.434	0.47301	-0.9769	0.35705	T	0.107	0.39051	T	10	0.0051721632	0.00112	T	0.020776	0.43441	T	0.040	0.10527	.	.	0.428976297845	0.42518	0.23599794954805256	0.23514	0.0307955421542	0.03189	0.618316173553	0.55491	T	0.010803	0.09719	T	-0.5573	0.00263	T	-0.570965	0.15361	T	0.0172385794546011	0.00466	T	0.762524	0.39120	T	0.11458244	0.27048	0.11857165	0.28621	0.11458244	0.27048	0.11857165	0.28621	-6.126	0.47322	T	.	.	0.138	0.42097	B	.;.;.	.;.;.	2.438306	0.31376	18.72	0.98250082840786079	0.39567	0.56072	0.30024	D	AEFDGBHCI	0.182062	0.30938	N	0.199806860656983	0.51190	3.302285	0.22039587023122	0.50980	3.284623	0.999999999842443	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.11	4.14	0.47821	0.169000	0.16457	.	.	0.676000	0.76740	0.004000	0.16614	1.000000	0.68203	0.857000	0.40602	0.0:0.1436:0.6889:0.1675	9.341	0.37238	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	.	.	.	.	.	.	.	.	0.08333	640.83	41	chr1	966542	.	G	C	640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.312;DP=237;ExcessHet=0;FS=2.534;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.944;SOR=0.334	GT:AD:DP:GQ:PL	0/1:24,27:51:99:651,0,662	5	0	1	0
chr1	973549	973549	C	T	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon12:c.C1238T:p.S413L,PLEKHN1:NM_001367552:exon13:c.C1379T:p.S460L,PLEKHN1:NM_032129:exon13:c.C1343T:p.S448L	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0117377315164	0.0040	0.00119808	0.0043	0.0004	0.0010	0.0001	0.0054	0.0069	0.0045	0.0005	0.0041267	638	154602	rs142080242	0.0043	0.0043	0.0043	0.0043	0.0048	0.0042	0.0042	0.0047	0.0047	0.0005	0.0025	0.0093	5.038e-05	0.0054	0.0007	0.0048	0.0036	0.0006	0.0033	0.0033	0.0032	0.0033	0.0047	0.0030	0.0030	0.0043	0.0041	0.0008	0.0044	0.0045	0.0066	0.0002	0.0039	0	0.0047	0.0028	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.435090	0.04727	N	1.357640	1	0.08975	N	-0.405	0.02972	N	1.27	0.36691	T	0.18	0.05035	N	0.077	0.05162	-1.0218	0.23129	T	0.022	0.09375	T	10	0.005976379	0.00134	T	0.011738	0.29664	T	0.006	0.00375	.	.	0.17948927462	0.17512	0.09610798066425576	0.09542	0.00976555014927	0.00889	0.296640098095	0.09902	T	0.002954	0.02350	T	-0.665975	0.00058	T	-0.727207	0.04455	T	4.62566349597182e-05	0.00000	T	0.711829	0.32321	T	0.03144104	0.02984	0.031907957	0.01847	0.03144104	0.02983	0.031907957	0.01847	-3.785	0.20581	T	.	.	0.068	0.17615	B	.;.;.;.	.;.;.;.	-0.379599	0.02290	0.240	0.67377652319566739	0.08337	0.00191	0.01107	N	AEFBI	0.034405	0.04254	N	-1.35736161754065	0.03049	0.1356096	-1.32576792496844	0.04100	0.1926868	0.00493350192845008	0.10768	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.699875	0.68795	0	.	.	4.72	-0.92	0.09942	-1.367000	0.02689	.	.	-0.271000	0.06739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4522:0.0:0.5478	8.274	0.31020	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1585.83	38	chr1	973549	.	C	T	1585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=319;ExcessHet=0;FS=1.333;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.783;SOR=0.636	GT:AD:DP:GQ:PL	0/1:80,61:141:99:1596,0,1978	5	0	1	0
chr1	1180802	1180802	C	T	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_153254:exon4:c.C478T:p.R160W,TTLL10:NM_001130045:exon8:c.C697T:p.R233W,TTLL10:NM_001371649:exon8:c.C697T:p.R233W	.	346	1175	1	0	0	1	0.000425351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	.	0.0048	0.00359425	0.0018	0.0198	0.0009	0.0002	0	5.303e-05	0.0021	0	0.0011643	180	154602	rs58991788	0.0005	0.0005	0.0006	0.0004	0.0176	0.0005	0.0005	0.0164	0.0159	0.0176	0.0010	0	7.748e-05	0	0.0007	3.429e-05	0.0009	3.565e-05	0.0044	0.0045	0.0044	0.0044	0.0152	0.0041	0.0040	0.0142	0.0138	0.0152	0	0.0018	0	0	0	0	7.354e-05	0.0043	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.449686	0.04807	U	100.696000	0.957576	0.38031	D	2.81	0.81869	M	0.77	0.49642	T	-6.7	0.93974	D	0.502	0.60495	-0.6917	0.60829	T	0.182	0.52904	T	10	0.009550244	0.00215	T	.	.	.	0.217	0.51112	.	.	0.596207158177	0.59299	0.723371012627956	0.72281	0.222601749021	0.24794	0.471951246262	0.34948	T	0.100411	0.40618	T	-0.415396	0.01831	T	-0.356491	0.38458	T	0.0785001387673214	0.09795	T	0.685431	0.29402	T	0.18318756	0.39574	0.20711806	0.44957	0.18318756	0.39574	0.20711806	0.44956	-7.02	0.56160	T	.	.	0.494	0.64306	A	.;.;.	.;.;.	2.881118	0.38127	20.7	0.99688896651801551	0.79775	0.88019	0.47768	D	AEFDBI	0.622973	0.60709	D	-0.134075583550035	0.35915	2.069061	-0.320382928145505	0.27441	1.522688	0.995050228482667	0.33929	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.82	-0.196	0.12582	-0.056000	0.11744	-0.205000	0.10907	-1.006000	0.01785	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.2062:0.7938:0.0:0.0	13.134	0.58817	789	0.46346	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003033	0.000000	0.008174	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	1122.83	33	chr1	1180802	.	C	T	1122.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.56;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.712;SOR=0.622	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1133,0,865	5	0	1	0
chr1	1197693	1197693	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon16:c.G1868A:p.R623Q,TTLL10:NM_001371649:exon16:c.G1868A:p.R623Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.00119808	0.0002	0.0115	0	0	0	0	0	0	8.41e-05	13	154602	rs540494380	0.0001	0.0002	0.0002	0.0001	0.0049	0.0001	0.0001	0.0042	0.0039	0.0049	0.0004	0	0	0	0.0002	1.685e-05	0.0004	2.6e-05	0.0013	0.0013	0.0013	0.0013	0.0042	0.0011	0.0011	0.0036	0.0035	0.0042	0	0.0008	0	0	0	0	8.839e-05	0.0024	0	0.621	0.05293	T	0.672	0.06265	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.41	0.05574	T	-0.06	0.07882	N	0.104	0.08786	-0.9263	0.44673	T	0.008	0.02638	T	9	0.003916651	0.00075	T	.	.	.	0.006	0.00375	0.279	0.23323	0.0482279557977	0.04254	0.16068323940891086	0.15989	0.0293251823611	0.03019	0.652493238449	0.60339	T	0.001834	0.01251	T	-0.698371	0.00037	T	-0.774985	0.02608	T	0.00213678864471114	0.00022	T	0.520648	0.16939	T	0.021815624	0.00805	0.033883795	0.02359	0.021815624	0.00805	0.033883795	0.02358	-3.605	0.17929	T	.	.	0.071	0.04764	B	.;.	.;.	-0.143235	0.03393	0.611	0.70180460301065828	0.09212	0.00254	0.01397	N	AEFBI	0.021062	0.00898	N	-1.92391088616146	0.00306	0.01316326	-2.00637065459842	0.00297	0.0131155	0.844110369831772	0.24921	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.37	-4.75	0.03003	-0.507000	0.06434	-1.825000	0.04657	-1.531000	0.00992	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3483:0.2844:0.3674:0.0	4.969	0.13456	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002506	0.000000	0.000000	0.009346	0.000000	0.000000	0.000000	0.000000	0.08333	614.83	23	chr1	1197693	.	G	A	614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.026;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,17:43:99:0|1:1197693_G_A:625,0,986:1197693	5	0	1	0
chr1	1419464	1419464	C	T	exonic	ANKRD65	.	nonsynonymous SNV	ANKRD65:NM_001375659:exon2:c.G295A:p.E99K,ANKRD65:NM_001243535:exon3:c.G295A:p.E99K,ANKRD65:NM_001145210:exon4:c.G836A:p.R279Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00698882	0.0036	0.0354	0	0.0050	0	0.0005	0.0062	0	0.0010155	157	154602	rs140747215	0.0013	0.0012	0.0014	0.0012	0.0296	0.0012	0.0012	0.0281	0.0274	0.0296	0.0034	0.0014	0.0003	0	0.0035	0.0004	0.0027	0.0002	0.0087	0.0087	0.0088	0.0085	0.0288	0.0083	0.0081	0.0275	0.0269	0.0288	0	0.0048	0.0006	0.0010	0	0.0068	0.0004	0.0052	0.0004	0.591	0.05790	T	0.593	0.08134	T	0.029	0.19866	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	-0.14	0.65006	T	-0.38	0.13418	N	0.068	0.04547	-1.0495	0.14537	T	0.070	0.28478	T	9	0.01231432	0.00265	T	.	.	.	0.048	0.13305	.	.	0.0297737177859	0.01360	0.05546644931200325	0.05487	.	.	0.624931454659	0.56426	T	0.001333	0.00808	T	-0.564453	0.00239	T	-0.558507	0.16517	T	0.00898527676177946	0.00112	T	0.888211	0.61727	D	0.020212583	0.00573	0.0328747	0.02092	0.020212583	0.00573	0.0328747	0.02091	-4.62	0.32422	T	.	.	0.119	0.24464	B	.;.	.;.	2.537691	0.32823	19.16	0.84682556343925064	0.15435	0.05742	0.11669	N	AEFBCI	0.075427	0.15147	N	-1.1807445513304	0.05291	0.2408683	-1.18225379507058	0.06206	0.2979998	0.997610418108631	0.35820	0.653281	0.48532	0	0.659037	0.61890	0	0.584781	0.30282	0	0.604944	0.38103	0	.	.	4.74	1.63	0.22882	0.492000	0.22144	0.932000	0.22787	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6843:0.2073:0.1084	9.294	0.36965	889	0.27310	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	0.012563	0.041667	0.000000	0.009259	0.000000	0.000000	0.000000	0.000000	0.08333	855.83	40	chr1	1419464	.	C	T	855.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=230;ExcessHet=0;FS=5.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-1.298;SOR=1.507	GT:AD:DP:GQ:PL	0/1:24,30:54:99:866,0,563	5	0	1	0
chr1	1676480	1676480	G	A	exonic	SLC35E2B	.	nonsynonymous SNV	SLC35E2B:NM_001110781:exon2:c.C220T:p.R74W,SLC35E2B:NM_001290264:exon3:c.C220T:p.R74W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	0.32635292897	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs756125270	0.0003	0.0002	0.0003	0.0003	0.0021	0.0003	0.0002	0.0013	0.0012	0.0005	0.0017	0.0002	0	0	0.0021	0.0002	0.0008	0	0.0004	0.0008	0.0002	0.0007	0.0023	0.0003	0.0003	0.0014	0.0011	0.0004	0	0.0023	0	0	0	0.0143	0.0001	0.0014	0	.	.	.	0.003	0.76473	D	0.999	0.77913	D	0.724	0.55036	P	0.000146	0.49130	D	0.137159	0.994045	0.23598	N	2.28	0.64929	M	.	.	.	.	.	.	0.457	0.50508	0.289	0.87378	D	0.796	0.93093	D	10	0.06439754	0.08534	T	0.326353	0.91624	D	.	.	0.613	0.74652	0.043077524339	0.03247	0.5514944285286478	0.55075	.	.	0.580174326897	0.50111	T	0.23438	0.60140	T	0.133886	0.67737	D	-0.0454578	0.67332	D	0.101737764583198	0.12548	T	0.950805	0.82551	D	0.16428939	0.36626	0.2081214	0.45100	0.16428939	0.36626	0.2081214	0.45099	-7.282	0.56067	T	.	.	0.185	0.40098	B	.;.;.	.;.;.	3.722679	0.53211	23.3	0.99848895571267926	0.92838	0.76479	0.37512	D	AEFDGI	0.380045	0.46283	N	0.0201440672315093	0.42772	2.583453	-0.129247866924117	0.34216	1.965766	0.523781285082019	0.21118	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.75	1.6	0.22686	2.293000	0.43219	1.054000	0.23662	0.671000	0.69459	1.000000	0.71638	0.293000	0.24176	0.588000	0.31090	0.0:0.0:0.5434:0.4566	11.677	0.50700	707	0.57054	Sugar phosphate transporter domain;Sugar phosphate transporter domain;Sugar phosphate transporter 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	.	.	.	.	.	.	.	.	0.08333	113.95	3	chr1	1676480	.	G	A	113.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.494;DP=51;ExcessHet=0;FS=2.817;MLEAC=1;MLEAF=0.083;MQ=27;MQRankSum=0;QD=9.5;ReadPosRankSum=1.03;SOR=0.136	GT:AD:DP:GQ:PL	0/1:7,5:12:99:124,0,142	5	0	1	0
chr1	2303352	2303352	C	T	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon3:c.C1163T:p.A388V	Shprintzen-Goldberg syndrome, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	209463	not_specified|not_provided|Shprintzen-Goldberg_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.241	0.194164771034	0.0041	0.00179712	0.0038	0.0011	0.0033	0.0001	0.0005	0.0061	0.0078	0.0002	0.0040232	622	154602	rs75280988	0.0058	0.0058	0.0061	0.0056	0.0067	0.0057	0.0057	0.0066	0.0065	0.0013	0.0045	0.0145	2.519e-05	0.0009	0.0021	0.0067	0.0066	0.0003	0.0040	0.0040	0.0043	0.0037	0.0074	0.0037	0.0036	0.0063	0.0059	0.0011	0	0.0074	0.0144	0	0.0004	0.0136	0.0057	0.0038	0.0002	0.301	0.14449	T	0.295	0.20680	T	0.384	0.34453	B	0.023	0.19966	B	0.602552	0.10944	N	0.812403	1	0.08975	N	1.175	0.29870	L	-3.81	0.95728	D	-0.99	0.26200	N	0.35	0.39153	-0.3036	0.74885	T	0.592	0.85430	D	10	0.008442789	0.00191	T	0.194165	0.86346	D	0.241	0.54641	.	.	0.572214113933	0.56889	0.3158012457443028	0.31493	0.202318093079	0.22652	0.4415769279	0.30793	T	0.279139	0.65181	T	-0.320214	0.06880	T	-0.228597	0.51907	T	0.00751728201366057	0.00087	T	0.806319	0.45525	T	0.020881847	0.00664	0.03194004	0.01855	0.020881847	0.00664	0.03194004	0.01855	-4.422	0.29853	T	.	.	0.08	0.07793	B	.	.	2.647634	0.34467	19.63	0.97362183186109652	0.33578	0.71584	0.35077	D	AEFBCI	0.404193	0.47758	N	-0.753518133954632	0.14538	0.7250071	-0.758716762254785	0.15509	0.8159668	0.999860507074493	0.44398	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	3.15	0.35301	5.378000	0.65942	4.718000	0.44490	-0.192000	0.09343	0.407000	0.26226	0.483000	0.25112	0.020000	0.11549	0.1699:0.8301:0.0:0.0	12.370	0.54579	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	0	0	1	0	0.005035	0.005051	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1151.83	45	chr1	2303352	.	C	T	1151.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=274;ExcessHet=0;FS=4.113;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.171;SOR=1.237	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1162,0,1012	5	0	1	0
chr1	2591992	2591992	G	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.C2103A:p.D701E	.	410	1077	34	1	0	36	0.0164384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.00479233	0.0039	0.0003	0.0020	0	0.0009	0.0007	0.0068	0.0234	0.0032923	509	154602	rs139941953	0.0020	0.0020	0.0012	0.0027	0.0241	0.0019	0.0019	0.0233	0.0229	0.0002	0.0017	0.0004	5.038e-05	0.0016	0.0087	0.0004	0.0023	0.0241	0.0013	0.0013	0.0008	0.0017	0.0245	0.0011	0.0011	0.0209	0.0195	4.815e-05	0	0.0020	0.0003	0.0002	0.0010	0.0034	0.0004	0.0024	0.0245	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.047	0.24832	B	0.000104	0.50451	D	0.169147	0.978157	0.25267	N	-0.8	0.01622	N	-2.27	0.87433	D	1.2	0.01551	N	0.116	0.13626	-0.7463	0.58128	T	0.119	0.41799	T	10	0.0022487938	0.00033	T	.	.	.	0.202	0.48754	0.318	0.29581	0.15556083564	0.15200	0.336983864726798	0.33611	0.197538282878	0.22128	0.356063842773	0.18811	T	0.251541	0.62180	T	-0.500915	0.00565	T	-0.474053	0.25082	T	0.00519120197706073	0.00056	T	0.641436	0.25361	T	0.02935999	0.02419	0.039899465	0.04190	0.02935999	0.02418	0.039899465	0.04190	-0.089	0.00382	T	.	.	0.265	0.49950	B	.;.	.;.	0.215240	0.05983	2.423	0.81869607158816715	0.13902	0.08265	0.14217	N	AEFDBI	0.128674	0.24654	N	-1.30047499016735	0.03671	0.1643771	-1.22291144834836	0.05543	0.264422	0.997556911042802	0.35751	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-3.73	0.04112	-0.229000	0.09106	-1.143000	0.06203	0.676000	0.76740	0.100000	0.22794	0.000000	0.08366	0.948000	0.49324	0.2739:0.3106:0.2003:0.2152	0.592	0.00682	835	0.38313	Peptidase M13, 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	0.006559	0.005051	0.000000	0.008824	0.000000	0.017241	0.006135	0.018939	0.1667	1519.06	36	chr1	2591992	.	G	T	1519.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.851;DP=265;ExcessHet=0.4139;FS=3.312;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.17;SOR=1.052	GT:AD:DP:GQ:PL	0/1:33,37:70:99:953,0,913	4	0	2	0
chr1	8330467	8330467	G	A	exonic	SLC45A1	.	nonsynonymous SNV	SLC45A1:NM_001379617:exon3:c.G368A:p.S123N,SLC45A1:NM_001379618:exon3:c.G368A:p.S123N,SLC45A1:NM_001379615:exon4:c.G881A:p.S294N,SLC45A1:NM_001379616:exon4:c.G881A:p.S294N,SLC45A1:NM_001080397:exon5:c.G974A:p.S325N,SLC45A1:NM_001379614:exon5:c.G974A:p.S325N	.	.	.	.	.	.	.	.	.	.	.	2332792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00624451351179	.	.	8.654e-06	0	0	0	0	0	0.0012	0	6.5e-06	1	154602	rs201811255	8.903e-06	8.893e-06	1.09e-05	6.883e-06	0.0002	4.97e-06	3.83e-06	7.42e-06	3.32e-06	0	4.476e-05	0	0	0	0.0002	8.994e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.06262	T	0.506	0.10967	T	.	.	.	.	.	.	0.187113	0.03223	N	1.542880	1	0.08975	N	.	.	.	2.33	0.16492	T	-0.41	0.14000	N	0.074	0.04790	-0.9926	0.31933	T	0.016	0.06616	T	10	0.042592615	0.03024	T	0.006245	0.16376	T	0.037	0.09474	0.245	0.17984	0.248417906384	0.24464	0.27006198039649176	0.26919	0.383896752763	0.39705	0.357035934925	0.18953	T	.	.	.	-0.460258	0.00980	T	-0.81604	0.01534	T	0.0233041014794551	0.01059	T	0.174183	0.01674	T	0.03415621	0.03779	0.041461892	0.04718	0.03415621	0.03779	0.041461892	0.04718	-5.338	0.40318	T	.	.	0.079	0.10014	B	.;.	.;.	-0.083167	0.03741	0.775	0.56797115806742204	0.05630	0.02748	0.07430	N	AEFDBHI	0.031112	0.03259	N	-1.31993813555025	0.03447	0.1540086	-1.24939345364492	0.05140	0.2442067	0.482999431706237	0.20801	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.34	2.25	0.27340	1.284000	0.32855	-0.032000	0.12782	-0.173000	0.11020	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.5362:0.3413:0.1225:0.0	6.770	0.22773	904	0.23766	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2039.83	64	chr1	8330467	.	G	A	2039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.187;DP=374;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=-0.382;SOR=0.631	GT:AD:DP:GQ:PL	0/1:49,66:115:99:2050,0,1456	5	0	1	0
chr1	15316468	15316468	G	A	splicing	FHAD1	NM_052929:exon9:c.1260+1G>A	.	.	.	429	1075	16	2	0	20	0.00921659	1.0000	0.79	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00139776	0.0037	0	0.0024	0	0.0032	0.0051	0	0.0038	0.0010608	164	154602	rs201462752	0.0036	0.0034	0.0035	0.0036	0.0260	0.0035	0.0034	0.0226	0.0213	0.0010	0.0018	0.0080	2.798e-05	0.0041	0.0260	0.0034	0.0047	0.0043	0.0028	0.0028	0.0028	0.0028	0.0041	0.0026	0.0025	0.0031	0.0030	0.0009	0	0.0034	0.0055	0	0.0038	0.0136	0.0035	0.0066	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.470746	0.00841	T	-0.448017	0.27916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.890183	0.80279	27.3	0.98762480573291489	0.45831	0.85382	0.44509	D	AEFBI	.	.	.	0.155085710763718	0.49053	3.110054	0.168766950585334	0.48145	3.034431	0.382346784428827	0.19972	0.07523	0.01759	0	0.109994	0.03358	0	0.060301	0.00762	0	0.075334	0.01956	0	0.95944	0.65039	4.93	4.93	0.64394	4.260000	0.58633	11.517000	0.93029	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	14.085	0.64480	964	0.07719	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	565.83	36	chr1	15316468	.	G	A	565.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.808;DP=222;ExcessHet=0;FS=2.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.256;SOR=0.358	GT:AD:DP:GQ:PL	0/1:23,24:47:99:576,0,575	5	0	1	0
chr1	15352925	15352925	A	T	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon19:c.A2437T:p.M813L	.	408	1111	3	0	0	3	0.00134831	.	.	.	3250325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.0035537908923	.	0.000399361	0.0006	0	0	0	0	0	0	0.0016	9.7e-05	15	154602	rs555623090	9.075e-05	8.687e-05	4.653e-05	0.0001	0.0013	7.751e-05	7.28e-05	0.0011	0.0010	0	2.801e-05	0	0	0	0.0005	1.205e-05	0.0001	0.0013	7.893e-05	7.877e-05	1.287e-05	0.0001	0.0019	4.501e-05	3.516e-05	0.0010	0.0007	0	0	0	0	0	0	0	4.413e-05	0	0.0019	1.0	0.00964	T	0.775	0.18178	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	1.08	0.39401	T	-0.2	0.10136	N	0.114	0.11340	-1.0229	0.22769	T	0.020	0.08546	T	9	0.0034737885	0.00062	T	0.003554	0.08092	T	0.025	0.05312	0.336	0.32491	0.0138822411134	0.00435	0.08189544683605388	0.08124	.	.	0.325125873089	0.14198	T	0.001878	0.03828	T	-0.473733	0.00806	T	-0.498813	0.22470	T	0.0603315338869289	0.07221	T	0.307569	0.05925	T	0.091515996	0.21446	0.13159445	0.31596	0.091515996	0.21446	0.13159445	0.31595	0.806	0.00159	T	.	.	0.091	0.15296	B	.;.;.;.	.;.;.;.	-1.430040	0.00339	0.006	0.35791736302263549	0.02266	0.00393	0.01973	N	AEFGBCI	0.045068	0.07329	N	-1.87668408767539	0.00383	0.01647472	-1.84825540164408	0.00617	0.02740374	0.99999999666296	0.74766	0.160855	0.03482	2	0.491513	0.07743	0	0.408882	0.06424	0	0.656636	0.63459	0	.	.	5.1	-7.02	0.01433	-2.272000	0.01247	-3.688000	0.02605	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.675000	0.33396	0.1415:0.3251:0.3941:0.1393	3.355	0.06748	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	487.83	33	chr1	15352925	.	A	T	487.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.85;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.047;SOR=0.715	GT:AD:DP:GQ:PL	0/1:25,19:44:99:498,0,710	5	0	1	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	31748.6	546	chr1	16564144	.	C	T	31748.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.623;DP=3888;ExcessHet=11.5949;FS=1.946;MLEAC=6;MLEAF=0.5;MQ=54.06;MQRankSum=-16.19;QD=8.4;ReadPosRankSum=0.566;SOR=0.858	GT:AD:DP:GQ:PL	0/1:625,215:840:99:4563,0,19810	0	0	6	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	33316.6	523	chr1	16564149	.	C	T	33316.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.191;DP=3774;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=53.96;MQRankSum=6.79;QD=9;ReadPosRankSum=0.001;SOR=0.685	GT:AD:DP:GQ:PL	0/1:682,151:833:99:2609,0,22185	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	5012.6	87	chr1	16759590	.	G	GC	5012.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=4.48;DP=512;ExcessHet=3.1439;FS=24.644;MLEAC=8;MLEAF=0.667;MQ=44.92;MQRankSum=-1.979;QD=10.92;ReadPosRankSum=-3.688;SOR=1.288	GT:AD:DP:GQ:PL	0/1:71,24:95:99:567,0,2247	0	2	4	0
chr1	16944129	16944129	A	G	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon14:c.A1838G:p.Q613R	.	374	1142	6	0	0	6	0.00262009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.013891286465	.	.	0.0011	0	0	0	0	0.0022	0	0.0006	0.0002652	41	154602	rs760655232	0.0004	0.0004	0.0003	0.0004	0.0076	0.0003	0.0003	0.0056	0.0049	0.0002	0.0003	0.0022	0	0	0.0076	0.0003	0.0007	0.0006	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0003	0.0026	0	0	0.0034	0.0004	0.0024	0.0010	0.045	0.40832	D	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	0.990783	0.41235	D	.	.	.	2.83	0.10771	T	-1.77	0.41809	N	0.205	0.22742	-1.1072	0.03321	T	0.057	0.23942	T	9	0.014759302	0.00310	T	0.013891	0.33629	T	0.056	0.15993	.	.	0.284539287134	0.28064	0.11087431664339958	0.11016	0.26085393997	0.28643	0.366038680077	0.20262	T	.	.	.	-0.398401	0.02372	T	-0.44246	0.28533	T	0.0737175212987907	0.09164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.03479	B	.	.	2.967388	0.39537	21.0	0.99372340517603464	0.61498	0.95982	0.67001	D	AEFDBI	0.458031	0.50923	N	0.321967037229203	0.57278	3.894511	0.34025598994847	0.57922	3.960046	0.917140679428216	0.26533	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.491896	0.07777	0	.	.	4.48	4.48	0.53973	2.931000	0.48625	5.119000	0.47573	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8405:0.0:0.0:0.1595	9.423	0.37724	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	0.007937	0.000000	0.009615	0.020690	0.000000	0.000000	0.009740	0.000000	0.08333	209.83	52	chr1	16944129	.	A	G	209.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=272;ExcessHet=0;FS=2.493;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=0.625;SOR=1.068	GT:AD:DP:GQ:PL	0/1:71,13:84:99:220,0,2039	5	0	1	0
chr1	17270928	17270928	C	T	exonic	PADI3	.	nonsynonymous SNV	PADI3:NM_016233:exon8:c.C881T:p.A294V	Uncombable hair syndrome, Autosomal recessive	411	1102	9	0	0	9	0.00406688	.	.	YES	361772	PADI3-related_disorder|not_provided|Uncombable_hair_syndrome_1	.|MedGen:C3661900|MONDO:MONDO:0020736,MedGen:C4551573,OMIM:191480,Orphanet:1410	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.448	.	0.0074	0.00279553	0.0067	0.0009	0.0020	0	0.0056	0.0097	0.0055	0.0052	0.006714	1038	154602	rs144080386	0.0077	0.0077	0.0077	0.0077	0.0084	0.0076	0.0075	0.0082	0.0082	0.0011	0.0031	0.0162	2.519e-05	0.0073	0.0028	0.0084	0.0069	0.0059	0.0062	0.0062	0.0062	0.0062	0.0093	0.0059	0.0058	0.0087	0.0085	0.0016	0	0.0055	0.0181	0.0002	0.0068	0.0034	0.0093	0.0024	0.0046	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	0.053221	0.99997	0.53665	D	3.14	0.88230	M	1.44	0.32722	T	-3.64	0.69835	D	0.985	0.99410	-0.5675	0.66114	T	0.195	0.54927	T	10	0.02340281	0.00611	T	.	.	.	0.448	0.74935	.	.	0.514980250562	0.51141	0.7737417385154324	0.77324	0.51335870114	0.49332	0.731342971325	0.71702	T	0.222814	0.58677	T	-0.365675	0.03819	T	-0.287656	0.46015	T	0.0248844591339173	0.01257	T	.	.	.	0.7620526	0.81574	0.66998434	0.80638	0.7620526	0.81576	0.66998434	0.80639	-7.261	0.55918	T	.	.	0.469	0.63129	A	.	.	4.461336	0.69433	25.4	0.99917547079578173	0.98518	0.98826	0.87362	D	AEFDI	0.786183	0.71634	D	0.903074328166432	0.91909	11.12968	0.851287722356534	0.93089	11.81852	0.999999999992077	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	7.376000	0.78918	4.062000	0.41595	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.978000	0.57271	0.0:1.0:0.0:0.0	18.078	0.89362	689	0.59000	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.08333	1013.83	37	chr1	17270928	.	C	T	1013.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.1;DP=241;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.371;SOR=0.512	GT:AD:DP:GQ:PL	0/1:26,36:62:99:1024,0,764	5	0	1	0
chr1	19078050	19078050	C	T	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon104:c.G15250A:p.V5084M	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00449645799926	.	0.000798722	0.0001	0	0	0.0008	0	7.604e-05	0	6.199e-05	0.00011	17	154602	rs2274010	6.43e-05	6.43e-05	5.99e-05	6.876e-05	0.0014	5.361e-05	4.976e-05	0.0011	0.0010	0	0	0	0.0014	0	0.0003	1.889e-05	0.0001	0.0001	7.224e-05	7.218e-05	6.425e-05	8.06e-05	0.0021	3.969e-05	3.126e-05	0.0012	0.0009	0	0	0	0	0.0021	0	0	0	0	0	0.038	0.42783	D	0.01	0.65728	D	0.624	0.40023	P	0.629	0.51727	P	0.002880	0.35804	N	0.240271	0.984208	0.40114	D	1.445	0.36358	L	1.54	0.30133	T	-1.67	0.45949	N	0.188	0.21969	-0.9870	0.33347	T	0.111	0.39841	T	10	0.017101645	0.00363	T	0.004496	0.11031	T	0.100	0.28662	.	.	0.0675242888579	0.06100	0.2864402572726692	0.28557	0.261685418496	0.28716	0.638859510422	0.58402	T	0.171343	0.51942	T	-0.429492	0.01493	T	-0.435263	0.29338	T	0.0830561027329034	0.10373	T	0.864214	0.56114	D	0.09904224	0.23370	0.08759371	0.20369	0.088266514	0.20583	0.09088626	0.21339	-4.426	0.29907	T	.	.	0.128	0.27613	B	.;.;.	.;.;.	2.359136	0.30252	18.38	0.98975764057164917	0.49620	0.85525	0.44666	D	AEFBI	0.275648	0.39056	N	0.0847406717777139	0.45751	2.826483	0.184991340370432	0.49024	3.110722	0.999997418763758	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.92	5.0	0.66209	1.533000	0.35645	0.332000	0.17294	0.599000	0.40250	0.834000	0.30193	0.012000	0.20211	0.999000	0.91618	0.1517:0.7735:0.0:0.0748	8.783	0.33962	914	0.21048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	927.83	34	chr1	19078050	.	C	T	927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.401;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=2.94;SOR=0.739	GT:AD:DP:GQ:PL	0/1:31,36:67:99:938,0,738	5	0	1	0
chr1	21238138	21238138	C	T	exonic	ECE1	.	nonsynonymous SNV	ECE1:NM_001113347:exon9:c.G1349A:p.S450N,ECE1:NM_001113349:exon10:c.G1376A:p.S459N,ECE1:NM_001113348:exon11:c.G1337A:p.S446N,ECE1:NM_001397:exon11:c.G1385A:p.S462N	.	0	1509	13	0	0	13	0.00428901	.	.	.	249709	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	0.0136730346543	0.0029	0.00219649	0.0030	0.0014	0.0012	0	0.0008	0.0042	0.0022	0.0027	0.0031565	488	154602	rs141146885	0.0047	0.0048	0.0049	0.0046	0.0057	0.0046	0.0046	0.0056	0.0055	0.0008	0.0021	0.0022	0	0.0007	0.0024	0.0057	0.0037	0.0019	0.0033	0.0033	0.0039	0.0028	0.0052	0.0031	0.0030	0.0048	0.0046	0.0011	0.0439	0.0023	0.0020	0	0.0008	0	0.0052	0.0047	0.0019	0.383	0.14793	T	0.415	0.15305	T	0.0	0.02946	B	0.0	0.04355	B	0.037610	0.24381	N	0.508327	0.988695	0.24382	N	-0.055	0.04927	N	-0.79	0.73739	T	-0.65	0.20145	N	0.085	0.10626	-1.0541	0.13278	T	0.100	0.37265	T	10	0.0057007372	0.00127	T	0.013673	0.33248	T	0.082	0.23913	.	.	0.256237801699	0.25221	0.37178015656178914	0.37092	0.539398488263	0.51172	0.328603953123	0.14722	T	0.186706	0.54008	T	-0.588258	0.00172	T	-0.611229	0.11885	T	0.00204115745109703	0.00021	T	0.728927	0.36808	T	0.057204656	0.11356	0.05784996	0.10590	0.07784044	0.17692	0.06402025	0.12767	-3.884	0.32121	T	0.10285320044975772	0.07865	0.055	0.00647	B	.;.;.;.;.;.	.;.;.;.;.;.	1.411872	0.18276	13.65	0.85322012358596189	0.15821	0.23980	0.22249	N	AEFDGBHCI	0.095255	0.19248	N	-0.765677098490011	0.14212	0.7060748	-0.600060566350599	0.19491	1.045999	0.999424051776111	0.39630	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.711	0.71501	0	.	.	5.55	0.51	0.16183	1.049000	0.30001	0.450000	0.18513	-0.181000	0.10308	0.998000	0.41325	0.998000	0.33993	0.905000	0.44082	0.1351:0.2448:0.14:0.4801	1.278	0.01912	315	0.87208	.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	682.83	47	chr1	21238138	.	C	T	682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.075;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-1.14;SOR=0.715	GT:AD:DP:GQ:PL	0/1:43,31:74:99:693,0,1109	5	0	1	0
chr1	25321930	25321930	G	A	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon9:c.G697A:p.A233T,RHD:NM_016124:exon9:c.G1195A:p.A399T	.	567	944	6	5	0	16	0.00840336	.	.	.	2812483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00167194843163	0.0055	0.00139776	0.0042	0.0005	0.0035	0	0	0.0069	0	0.0013	0.0035834	554	154602	rs150059028	0.0056	0.0059	0.0057	0.0054	0.0160	0.0054	0.0054	0.0133	0.0122	0.0009	0.0045	0.0008	0	0.0003	0.0160	0.0068	0.0042	0.0009	0.0042	0.0043	0.0045	0.0040	0.0079	0.0040	0.0038	0.0073	0.0071	0.0007	0.0120	0.0043	0.0010	0	0.0001	0.0363	0.0079	0.0038	0.0011	0.381	0.11156	T	0.606	0.07791	T	0.195	0.29512	B	0.065	0.27321	B	.	.	.	.	1	0.08975	N	1.74	0.45129	L	2.24	0.17923	T	-0.49	0.15578	N	0.137	0.13484	-0.9627	0.38664	T	0.018	0.07565	T	9	0.009203434	0.00208	T	0.001672	0.02753	T	0.012	0.01476	.	.	0.0401082797425	0.02173	.	.	0.13233277982	0.14917	0.298501372337	0.10178	T	0.001847	0.01261	T	-0.682146	0.00047	T	-0.747786	0.03573	T	0.00249023138695016	0.00026	T	0.710029	0.32075	T	0.026662363	0.01752	0.056285452	0.10028	0.024732655	0.01335	0.06271814	0.12315	-4.096	0.25231	T	0.2217239663728352	0.29907	0.083	0.09433	B	.	.	-0.394838	0.02232	0.226	0.55583074485088868	0.05372	0.00769	0.03173	N	AEFGBI	0.062290	0.11963	N	-1.24185593871827	0.04408	0.198871	-1.37664646512064	0.03502	0.1635011	5.54625796185507E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.52	-2.49	0.06034	-0.634000	0.05575	-0.250000	0.10515	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.5587:0.0:0.4413:0.0	6.514	0.21436	894	0.26265	.	.	.	.	.	.	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	0.008269	0.000000	0.008671	0.017007	0.000000	0.000000	0.017986	0.000000	0.08333	1517.83	33	chr1	25321930	.	G	A	1517.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.63;MQRankSum=-0.667;QD=14.05;ReadPosRankSum=0.012;SOR=0.736	GT:AD:DP:GQ:PL	0/1:51,57:108:99:1528,0,1192	5	0	1	0
chr1	26181925	26181925	G	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon4:c.G461A:p.S154N,CNKSR1:NM_006314:exon4:c.G461A:p.S154N	.	0	1508	14	0	0	14	0.00462046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0096474954443	0.0004	0.00199681	0.0008	0.0009	0.0006	0	0	0.0012	0.0011	0.0004	0.0009314	144	154602	rs145868405	0.0010	0.0010	0.0010	0.0011	0.0082	0.0010	0.0010	0.0063	0.0056	0.0011	0.0011	0.0049	0	1.873e-05	0.0082	0.0010	0.0017	0.0007	0.0009	0.0009	0.0008	0.0010	0.0010	0.0008	0.0007	0.0008	0.0008	0.0005	0	0.0010	0.0046	0	0	0.0102	0.0010	0.0019	0.0010	0.109	0.30515	T	0.035	0.52727	D	0.491	0.36960	P	0.187	0.36167	B	0.020042	0.27124	N	0.422527	1	0.81001	D	1.61	0.41143	L	2.51	0.14284	T	-1.05	0.27463	N	0.264	0.29889	-1.0261	0.21723	T	0.018	0.07470	T	10	0.009554386	0.00215	T	0.009647	0.25222	T	0.064	0.18567	.	.	0.159798565429	0.15598	0.4270266549113444	0.42619	0.390937620753	0.40295	0.304717838764	0.11109	T	0.00692	0.06344	T	-0.652758	0.00070	T	-0.717682	0.04909	T	0.0119952073796429	0.00189	T	0.689231	0.29860	T	0.107102126	0.25325	0.13138534	0.31550	0.107102126	0.25324	0.13138534	0.31549	-5.029	0.40131	T	.	.	0.137	0.32756	B	.;.	.;.	3.433168	0.47720	22.5	0.97751633966628204	0.35745	0.78238	0.38570	D	ALL	0.292160	0.40311	N	-0.0787818306973974	0.38323	2.242856	0.0297114310540479	0.41101	2.463719	0.999998831082744	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.1	3.1	0.34780	1.864000	0.39107	6.329000	0.55457	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.5177:0.4823:0.0	12.985	0.57988	413	0.81939	CRIC domain|CRIC domain;CRIC domain|CRIC 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	0.011247	0.010526	0.002717	0.038690	0.050000	0.025862	0.000000	0.007692	0.08333	1044.83	35	chr1	26181925	.	G	A	1044.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.504;DP=285;ExcessHet=0;FS=3.264;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.301;SOR=1.132	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1055,0,986	5	0	1	0
chr1	26255641	26255641	A	G	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001281517:exon3:c.A526G:p.K176E,CEP85:NM_001319944:exon4:c.A679G:p.K227E,CEP85:NM_022778:exon4:c.A679G:p.K227E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00587897905227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.272	0.22223	T	0.065	0.23521	B	0.031	0.21939	B	0.002628	0.36208	N	0.306226	0.954357	0.26372	N	2.015	0.55033	M	2.78	0.11298	T	-0.06	0.07882	N	0.25	0.28264	-1.0500	0.14397	T	0.021	0.08824	T	10	0.07192758	0.10669	T	0.005879	0.15310	T	0.059	0.16972	0.162	0.06618	0.197625483188	0.19356	0.1476307912949325	0.14685	0.201442843589	0.22544	0.490192234516	0.37464	T	0.008428	0.07741	T	-0.181798	0.23469	T	-0.498917	0.22459	T	0.117949062559046	0.14228	T	0.839616	0.51418	T	0.06747799	0.14615	0.0763468	0.16900	0.06747799	0.14615	0.0763468	0.16900	-2.223	0.04153	T	.	.	0.124	0.27403	B	.;.;.	.;.;.	2.694508	0.35184	19.83	0.99524707052603056	0.69469	0.55968	0.29997	D	AEFBI	0.163073	0.28931	N	-0.335839497962186	0.27796	1.527924	-0.205146815438709	0.31350	1.773415	0.0691361261090217	0.15481	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	4.77	0.60425	1.370000	0.33843	7.934000	0.75174	0.756000	0.94297	0.991000	0.37257	1.000000	0.68203	0.938000	0.47775	0.6298:0.2399:0.0:0.1303	6.751	0.22674	454	0.79125	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2722.83	41	chr1	26255641	.	A	G	2722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.944;DP=376;ExcessHet=0;FS=1.803;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.51;SOR=0.564	GT:AD:DP:GQ:PL	0/1:85,102:187:99:2733,0,2297	5	0	1	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2256.72	35	chr1	26282374	.	ACC	*	2256.72	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.115;DP=161;ExcessHet=0.7136;FS=14.85;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=22.57;ReadPosRankSum=0.462;SOR=0.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:24:99:0|1:26282278_C_T:940,508,470:26282278	3	0	1	2
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	409.4	35	chr1	26282386	.	GCCGGGA	*	409.4	.	AC=4;AF=0.4;AN=10;DP=180;ExcessHet=0.7136;FS=7.449;MLEAC=4;MLEAF=0.4;MQ=60;QD=3.56;SOR=0.261	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:26:99:0|1:26282278_C_T:1021,441,412:26282278	1	0	4	1
chr1	26941557	26941557	G	A	exonic	NUDC	.	nonsynonymous SNV	NUDC:NM_006600:exon3:c.G260A:p.R87Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.0834775923441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757488340	9.596e-06	9.577e-06	1.227e-05	6.891e-06	4.528e-05	5.57e-06	4.36e-06	7.51e-06	2.81e-06	2.988e-05	4.528e-05	0	0	0	0	6.301e-06	6.643e-05	0	6.573e-06	6.567e-06	1.285e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.079	0.35349	T	0.049	0.50514	D	0.65	0.40644	P	0.097	0.30390	B	0.000080	0.52346	D	0.167825	0.999914	0.51042	D	2.42	0.70002	M	-1.62	0.82347	D	-1.18	0.36385	N	0.588	0.60833	0.188	0.85702	D	0.662	0.88261	D	10	0.39850998	0.55400	T	0.083478	0.74124	D	0.379	0.69696	0.26	0.20315	0.692095630652	0.68945	0.3074319133202617	0.30656	0.366967266	0.38266	0.517530202866	0.41278	T	0.028174	0.27821	T	0.00292747	0.52059	T	-0.0544993	0.66714	D	0.477122485637665	0.31792	T	0.918408	0.70674	D	0.09304545	0.21845	0.112403184	0.27122	0.09304545	0.21844	0.112403184	0.27121	-3.301	0.13750	T	.	.	0.134	0.29116	B	.;.;.	.;.;.	3.919599	0.57214	23.8	0.99919106117806922	0.98654	0.99734	0.99061	D	AEFDGBI	0.896985	0.83867	D	0.504203789233768	0.67337	5.068311	0.522030374946808	0.69474	5.36568	0.999999763599671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.626000	0.97807	3.995000	0.41022	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.389000	0.26536	0.0:0.0:1.0:0.0	17.626	0.87995	584	0.69381	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1738.06	34	chr1	26941557	.	G	A	1738.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.82;DP=275;ExcessHet=0.4139;FS=1.398;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.38;SOR=0.882	GT:AD:DP:GQ:PL	0/1:43,32:75:99:875,0,1156	4	0	2	0
chr1	27370634	27370634	T	C	exonic	FCN3	.	nonsynonymous SNV	FCN3:NM_173452:exon6:c.A587G:p.Y196C,FCN3:NM_003665:exon7:c.A620G:p.Y207C	Immunodeficiency due to ficolin 3 deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1015715	Immunodeficiency_due_to_ficolin3_deficiency|not_provided	MONDO:MONDO:0013467,MedGen:C3151226,OMIM:613860,Orphanet:331190|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.548	0.0204591217595	.	.	4.944e-05	0	0	0	0	7.496e-05	0	6.058e-05	5.17e-05	8	154602	rs781053078	7.524e-05	7.524e-05	7.895e-05	7.15e-05	0.0035	6.382e-05	5.938e-05	0.0023	0.0019	5.974e-05	2.236e-05	0	0	0	0.0035	7.104e-05	0.0001	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.825288	0.06908	N	1.111850	0.999999	0.08975	N	4.705	0.99486	H	-2.11	0.86216	D	-8.7	0.97637	D	0.598	0.61680	-0.2308	0.76866	T	0.806	0.93436	D	10	0.9660878	0.96095	D	0.020459	0.43059	T	0.548	0.81252	0.882	0.96934	0.927474996152	0.92673	0.8041784513441672	0.80371	0.627397697224	0.56835	0.330797612667	0.15054	T	0.371492	0.73585	T	0.257856	0.79330	D	0.324298	0.89271	D	0.56227373531794	0.34941	D	0.882812	0.60417	D	0.931944	0.94431	0.80255514	0.88430	0.931944	0.94432	0.80255514	0.88431	-9.487	0.70778	D	.	.	0.778	0.77664	P	.;.	.;.	3.268455	0.44732	22.0	0.9887144457337067	0.47649	0.23413	0.22068	N	AEFBI	0.299637	0.40863	N	0.156861162329416	0.49137	3.117521	-0.087430489363039	0.35909	2.08315	0.999847396739546	0.43971	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.32	1.94	0.25058	0.722000	0.25595	-0.274000	0.10324	0.665000	0.62972	0.011000	0.18532	0.002000	0.18203	0.645000	0.32557	0.0:0.1015:0.1826:0.7159	5.158	0.14374	607	0.67291	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.017544	0.050000	0.000000	0.003049	0.000000	0.1667	2757.06	34	chr1	27370634	.	T	C	2757.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.88;DP=346;ExcessHet=0.4139;FS=0.531;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=2.44;SOR=0.625	GT:AD:DP:GQ:PL	0/1:44,60:104:99:1626,0,1047	4	0	2	0
chr1	37815374	37815374	G	A	exonic	MTF1	.	nonsynonymous SNV	MTF1:NM_005955:exon11:c.C2024T:p.A675V	.	8	1513	1	0	0	1	0.00033036	.	.	.	4029860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0038347081727	0.0002	.	3.3e-05	0	8.651e-05	0	0	4.501e-05	0	0	2.59e-05	4	154602	rs138397545	1.779e-05	1.779e-05	1.361e-05	2.2e-05	4.472e-05	1.237e-05	1.051e-05	1.093e-05	8.81e-06	2.987e-05	4.472e-05	0	0	0	0	1.709e-05	4.967e-05	1.159e-05	2.629e-05	2.627e-05	5.138e-05	0	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0010	0	0.095	0.31235	T	0.332	0.18449	T	0.043	0.21573	B	0.012	0.16012	B	0.026435	0.25921	N	0.390592	0.993291	0.23738	N	0.345	0.11182	N	2.89	0.10196	T	-0.46	0.14978	N	0.032	0.00825	-0.9642	0.38370	T	0.012	0.04463	T	10	0.07101649	0.10412	T	0.003835	0.08961	T	0.059	0.16972	.	.	0.2419029386	0.23804	0.16383556690790674	0.16303	0.196549076281	0.22016	0.285941392183	0.08335	T	.	.	.	-0.413282	0.01891	T	-0.748562	0.03542	T	0.0524615049362183	0.05927	T	0.549445	0.18903	T	0.03104945	0.02876	0.053479936	0.09014	0.03104945	0.02875	0.053479936	0.09014	-4.061	0.24713	T	.	.	0.122	0.25364	B	.	.	1.723869	0.21947	15.42	0.90316029716270207	0.19583	0.94268	0.60628	D	AEFBI	0.195031	0.32208	N	-0.767950206355918	0.14150	0.7025744	-0.594634303422157	0.19632	1.054202	0.970185564459118	0.29188	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.75	4.84	0.62125	4.162000	0.57962	5.014000	0.46692	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.1418:0.0:0.8582:0.0	11.081	0.47281	850	0.35610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2043.83	33	chr1	37815374	.	G	A	2043.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.313;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=0.284;SOR=0.641	GT:AD:DP:GQ:PL	0/1:52,67:119:99:2054,0,1385	5	0	1	0
chr1	39372528	39372528	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon46:c.A6959G:p.N2320S	.	435	1070	17	0	0	17	0.00788132	.	.	.	1666742	Lissencephaly_9_with_complex_brainstem_malformation|not_provided	MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.0140217105871	0.0010	0.00159744	0.0025	9.707e-05	0.0017	0	0.0008	0.0018	0.0033	0.0095	0.0022768	352	154602	rs148069432	0.0018	0.0018	0.0014	0.0022	0.0112	0.0017	0.0017	0.0106	0.0103	0.0001	0.0008	0.0001	2.52e-05	0.0010	0.0073	0.0012	0.0023	0.0112	0.0012	0.0012	0.0011	0.0012	0.0106	0.0010	0.0010	0.0083	0.0074	0.0003	0	0.0006	0	0	0.0004	0.0034	0.0014	0.0024	0.0106	0.047	0.40319	D	0.198	0.27767	T	0.756	0.43409	P	0.587	0.50368	P	0.000475	0.44119	D	0.097855	0.991281	0.47641	D	.	.	.	1.25	0.36512	T	-3.48	0.68298	D	0.272	0.30800	-1.0143	0.25561	T	0.087	0.33857	T	10	0.0056358874	0.00125	T	0.014022	0.33851	T	0.078	0.22779	.	.	0.350697349064	0.34675	0.2509075869118216	0.25004	.	.	0.372067987919	0.21128	T	0.158204	0.83479	T	-0.585328	0.00179	T	-0.604164	0.12463	T	0.0798498266153988	0.09968	T	0.89891	0.65471	D	0.048631538	0.08506	0.08550179	0.19747	0.047225796	0.08038	0.08960598	0.20963	-8.263	0.67394	D	.	.	0.088	0.11701	B	.;.;.;.;.	.;.;.;.;.	1.564903	0.20044	14.56	0.99354921868190538	0.60738	0.80897	0.40420	D	AEFDBI	0.154011	0.27896	N	0.0397473736906661	0.43673	2.655599	0.197441580791304	0.49707	3.170703	0.997098033228771	0.35269	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	2.012000	0.40551	2.292000	0.31965	0.756000	0.94297	0.915000	0.31815	0.886000	0.27767	0.995000	0.73285	0.7098:0.1813:0.1088:0.0	5.090	0.14037	593	0.68665	.;.;.;.;.	.	.	.	.	.	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	0.015152	0.004076	0.005848	0.000000	0.008621	0.012195	0.018939	0.08333	980.83	39	chr1	39372528	.	A	G	980.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.285;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.497;SOR=0.569	GT:AD:DP:GQ:PL	0/1:20,39:59:99:991,0,485	5	0	1	0
chr1	44220120	44220120	G	T	exonic	DMAP1	.	nonsynonymous SNV	DMAP1:NM_019100:exon9:c.G1155T:p.E385D,DMAP1:NM_001034023:exon10:c.G1155T:p.E385D,DMAP1:NM_001034024:exon10:c.G1155T:p.E385D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.00894283000242	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951792544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.18757	T	0.107	0.37730	T	0.501	0.37169	P	0.333	0.42166	B	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	1.78	0.46185	L	.	.	.	-1.39	0.34397	N	0.837	0.83678	-0.8283	0.53410	T	0.196	0.55100	T	9	0.5898437	0.66318	D	0.008943	0.23559	T	0.516	0.79340	0.615	0.74884	0.365892764245	0.36201	0.78673364916191	0.78625	0.542418983261	0.51350	0.833360314369	0.87078	D	0.264694	0.63649	T	0.118814	0.66252	D	-0.0671077	0.65831	T	0.718208134174347	0.41609	D	0.926107	0.72788	D	0.12469518	0.29251	0.15334283	0.36039	0.12469518	0.29251	0.15334283	0.36038	-4.938	0.36159	T	.	.	0.236	0.46949	B	.;.;.	.;.;.	2.495504	0.32200	18.97	0.99396842821314257	0.62610	0.88529	0.48499	D	AEFBCI	0.497770	0.53215	N	-0.0179043173281135	0.41046	2.44817	0.0396768892274005	0.41576	2.500103	0.997910022406299	0.36186	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.09	3.19	0.35720	1.185000	0.31675	4.417000	0.43302	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.3018:0.0:0.6982:0.0	9.302	0.37013	252	0.90114	DNA methyltransferase 1-associated 1|DNA methyltransferase 1-associated 1;DNA methyltransferase 1-associated 1|DNA methyltransferase 1-associated 1;DNA methyltransferase 1-associated 1|DNA methyltransferase 1-associated 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1463.83	34	chr1	44220120	.	G	T	1463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.625;DP=305;ExcessHet=0;FS=3.272;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.343;SOR=1.011	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1474,0,1855	5	0	1	0
chr1	52385936	52385936	G	A	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon9:c.C1397T:p.T466M,ORC1:NM_001190819:exon9:c.C1382T:p.T461M,ORC1:NM_004153:exon9:c.C1397T:p.T466M	Meier-Gorlin syndrome 1, Autosomal recessive	0	1492	30	0	0	30	0.00995355	.	.	.	135302	Meier-Gorlin_syndrome_1|not_specified|not_provided	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	0.0017	0.0371406	0.0238	0.0019	0.0956	0.1418	0.0003	0.0012	0.0173	0.0260	0.02097	3242	154602	rs3087481	0.0073	0.0073	0.0072	0.0075	0.0993	0.0072	0.0072	0.0967	0.0957	0.0012	0.0740	0.0031	0.0993	0.0003	0.0038	0.0006	0.0127	0.0224	0.0091	0.0091	0.0083	0.0100	0.1206	0.0087	0.0086	0.1128	0.1096	0.0020	0	0.0292	0.0035	0.1206	0.0003	0.0034	0.0009	0.0151	0.0261	0.016	0.51853	D	0.012	0.63918	D	0.945	0.53279	P	0.329	0.42046	B	0.063591	0.22014	N	0.533832	0.996943	0.43522	D	2.31	0.66127	M	0.7	0.51474	T	-2.45	0.53577	N	0.081	0.05670	-1.1688	0.00563	T	0.003	0.00929	T	10	0.0017303824	0.00022	T	.	.	.	0.154	0.40340	.	.	.	.	0.5080347100576171	0.50725	0.205181197166	0.22937	0.25866985321	0.04734	T	0.043092	0.26392	T	-0.570715	0.00219	T	-0.474437	0.25040	T	0.0213695901790923	0.00840	T	0.470553	0.13922	T	0.028158154	0.02112	0.070298396	0.14919	0.032757137	0.03362	0.07377268	0.16066	-7.673	0.58820	D	0.307441505087567	0.40517	0.074	0.05017	B	.;.	.;.	2.066432	0.26275	17.06	0.96521431116930512	0.30115	0.94283	0.60675	D	AEFBCI	0.223947	0.34824	N	-0.165939805209196	0.34558	1.974032	-0.279770497599646	0.28764	1.606388	0.0530868340151676	0.14927	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.3	2.43	0.28797	2.877000	0.48205	0.405000	0.18046	-0.677000	0.04263	0.891000	0.31220	0.014000	0.20376	0.165000	0.20815	0.2075:0.0:0.7925:0.0	10.680	0.45002	328	0.86572	.;.	.	.	.	.	rs3087481	Likely benign	0	0	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	0.000000	0.006793	0.005882	0.000000	0.017241	0.015244	0.003788	0.08333	1109.83	35	chr1	52385936	.	G	A	1109.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.17;DP=274;ExcessHet=0;FS=3.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.112;SOR=1.082	GT:AD:DP:GQ:PL	0/1:60,42:102:99:1120,0,1451	5	0	1	0
chr1	52978254	52978254	A	T	exonic	SCP2	.	nonsynonymous SNV	SCP2:NM_001007098:exon8:c.A580T:p.S194C,SCP2:NM_001193599:exon8:c.A640T:p.S214C,SCP2:NM_001193600:exon8:c.A580T:p.S194C,SCP2:NM_001193617:exon8:c.A469T:p.S157C,SCP2:NM_001330587:exon9:c.A712T:p.S238C,SCP2:NM_002979:exon9:c.A712T:p.S238C	Leukoencephalopathy with dystonia and motor neuropathy, Autosomal recessive	15	1506	0	1	0	2	0.00066357	.	.	.	1505414	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.761	0.204615757379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170093685	9.578e-06	1.026e-05	5.446e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.813	0.45457	P	0.491	0.47360	P	0.000000	0.84330	D	0.038581	0.999999	0.58761	D	4.3	0.98261	H	-3.77	0.95595	D	-4.46	0.78636	D	0.669	0.67908	1.081	0.98913	D	0.925	0.97520	D	10	0.8488485	0.84057	D	0.204616	0.86940	D	0.761	0.91879	0.554	0.67133	0.98820149904	0.98807	0.8281905910068039	0.82777	1.13182881376	0.78647	0.457741856575	0.33001	T	0.976174	0.99770	D	0.369621	0.88012	D	0.293158	0.87859	D	0.998247981071472	0.93616	D	0.917608	0.70392	D	0.64814335	0.75264	0.454752	0.68297	0.64814335	0.75266	0.454752	0.68298	-11.834	0.87809	D	.	.	0.209	0.54718	B	.;.;.;.;.;.	.;.;.;.;.;.	4.017011	0.59304	24.1	0.98797815127998534	0.46397	0.98875	0.88021	D	AEFDBIJ	0.929706	0.91587	D	0.611536087908159	0.73903	6.042757	0.558027930121956	0.71958	5.734743	0.999985343630993	0.51787	0.693126	0.56070	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.17	5.17	0.70848	8.165000	0.89615	7.831000	0.70117	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	1.0:0.0:0.0:0.0	14.848	0.69911	144	0.94257	Thiolase, N-terminal;.;.;.;.;Thiolase, N-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	.	.	.	.	.	.	.	.	0.08333	599.83	36	chr1	52978254	.	A	T	599.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.512;DP=225;ExcessHet=0;FS=6.548;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.999;SOR=0.192	GT:AD:DP:GQ:PL	0/1:23,22:45:99:610,0,632	5	0	1	0
chr1	65616108	65616108	C	T	exonic	LEPR	.	nonsynonymous SNV	LEPR:NM_001198687:exon14:c.C2096T:p.T699M,LEPR:NM_001198688:exon14:c.C2096T:p.T699M,LEPR:NM_001198689:exon14:c.C2096T:p.T699M,LEPR:NM_001003679:exon15:c.C2096T:p.T699M,LEPR:NM_001003680:exon15:c.C2096T:p.T699M,LEPR:NM_002303:exon15:c.C2096T:p.T699M	Obesity, morbid, due to leptin receptor deficiency	1	1520	1	0	0	1	0.000328839	.	.	.	380185	Monogenic_diabetes|not_provided|not_specified|Obesity_due_to_leptin_receptor_gene_deficiency	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013992,MedGen:C3554225,OMIM:614963,Orphanet:179494	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.270	.	0.0128	0.00978435	0.0032	0.0353	0.0012	0	0	7.494e-05	0	0.0001	0.0030077	465	154602	rs34499590	0.0009	0.0009	0.0011	0.0008	0.0333	0.0009	0.0009	0.0317	0.0310	0.0333	0.0014	0	2.519e-05	0	0.0014	3.867e-05	0.0019	4.637e-05	0.0096	0.0096	0.0098	0.0094	0.0338	0.0092	0.0090	0.0323	0.0317	0.0338	0	0.0029	0	0	0	0	4.41e-05	0.0057	0	0.003	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000036	0.55875	D	0.149278	0.999932	0.81001	D	2.93	0.84523	M	0.58	0.54149	T	-3.06	0.65972	D	0.855	0.90025	-0.4113	0.71669	T	0.309	0.67913	T	10	0.0063533783	0.00143	T	.	.	.	0.270	0.58507	.	.	0.66202510706	0.65918	0.6090357320611688	0.60835	0.538619484499	0.51112	0.523927569389	0.42179	T	0.749181	0.93113	D	-0.34528	0.05031	T	-0.242288	0.50574	T	0.0270472370336921	0.01550	T	0.937806	0.76632	D	0.3075607	0.53574	0.3189415	0.57858	0.30354962	0.53221	0.287328	0.54744	-7.99	0.61485	D	0.8223902715363676	0.89511	0.130	0.30686	B	.;.;.;.;.;.	.;.;.;.;.;.	4.529489	0.71095	25.6	0.99808426088071867	0.89264	0.83209	0.42345	D	ALL	0.802603	0.72798	D	0.513716925950172	0.67901	5.143863	0.385263781785833	0.60654	4.255576	0.999999999873774	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.704051	0.69138	0	.	.	5.26	5.26	0.73479	5.521000	0.66800	7.697000	0.66086	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.119000	0.19126	0.0:1.0:0.0:0.0	18.853	0.92209	872	0.31118	.;.;Fibronectin type III;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1689.83	34	chr1	65616108	.	C	T	1689.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=2.27;SOR=0.708	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1700,0,1258	5	0	1	0
chr1	74590065	74590065	G	A	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon12:c.C1742T:p.S581L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0031	0.00638978	0.0016	0.0158	0.0007	0	0	2.152e-05	0.0015	7.379e-05	0.001229	190	154602	rs115339919	0.0004	0.0004	0.0004	0.0003	0.0129	0.0003	0.0003	0.0119	0.0115	0.0129	0.0008	0	0	0	0.0007	1.538e-05	0.0009	3.525e-05	0.0037	0.0038	0.0040	0.0035	0.0130	0.0035	0.0034	0.0121	0.0117	0.0130	0	0.0015	0	0	0	0	2.94e-05	0.0024	0	0.002	0.72154	D	0.065	0.44702	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.75	0.80375	M	2.43	0.20808	T	-3.63	0.70793	D	0.157	0.16308	-1.1011	0.03961	T	0.053	0.22307	T	9	0.0076974034	0.00175	T	.	.	.	0.038	0.09825	.	.	0.230578612272	0.22657	0.0629350459138683	0.06232	0.102474208625	0.11596	.	.	.	0.081349	0.36575	T	-0.531235	0.00378	T	-0.524182	0.19872	T	0.0725769017618088	0.09008	T	0.775222	0.40690	T	0.10954011	0.25898	0.20154718	0.44140	0.10954011	0.25897	0.20154718	0.44139	-7.388	0.56820	T	.	.	0.104	0.18663	B	.;.	.;.	2.962187	0.39448	21.0	0.99491904595162206	0.67516	0.12116	0.17069	N	AEFI	0.126726	0.24379	N	-0.102349312522256	0.37290	2.167407	-0.306980234908526	0.27873	1.549777	2.31096319222778E-5	0.03498	0.594549	0.33734	0	0.486142	0.07564	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.12	2.21	0.27042	1.093000	0.30550	5.815000	0.50038	0.665000	0.62972	0.166000	0.23880	1.000000	0.68203	0.003000	0.05239	0.2835:0.0:0.7165:0.0	7.38	0.26023	712	0.56465	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	410.83	25	chr1	74590065	.	G	A	410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.047;DP=158;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-1.826;SOR=0.693	GT:AD:DP:GQ:PL	0/1:15,15:30:99:421,0,429	5	0	1	0
chr1	75137116	75137116	C	T	exonic	LHX8	.	nonsynonymous SNV	LHX8:NM_001256114:exon3:c.C92T:p.A31V,LHX8:NM_001001933:exon4:c.C122T:p.A41V	.	407	1112	2	1	0	4	0.00179533	.	.	.	707511	not_provided|LHX8-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0099	0.00778754	0.0027	0.0326	0.0015	0	0	8.141e-05	0.0037	6.651e-05	0.0024838	384	154602	rs141641179	0.0009	0.0009	0.0011	0.0007	0.0321	0.0009	0.0009	0.0305	0.0299	0.0321	0.0018	0	0	0	0.0016	2.89e-05	0.0021	8.139e-05	0.0094	0.0094	0.0097	0.0090	0.0323	0.0090	0.0088	0.0308	0.0302	0.0323	0	0.0034	0	0	0	0	0.0001	0.0114	0	0.062	0.38185	T	0.324	0.18903	T	0.008	0.14655	B	0.002	0.06944	B	0.023213	0.26485	N	0.385467	0.996455	0.43214	D	0.345	0.11182	N	-2.12	0.86283	D	-0.6	0.18877	N	0.137	0.14338	-0.5433	0.67039	T	0.300	0.67166	T	10	0.0037474036	0.00070	T	.	.	.	0.200	0.48430	.	.	0.412688821616	0.40882	0.34990298168510253	0.34904	0.472962302528	0.46531	0.581998169422	0.50367	T	0.075012	0.35076	T	-0.412836	0.01903	T	-0.341412	0.40184	T	0.0182681683297782	0.00546	T	0.70393	0.31399	T	0.1888775	0.40406	0.22278383	0.47134	0.1888775	0.40405	0.22278383	0.47133	-4.507	0.32879	T	.	.	0.074	0.05188	B	.;.	.;.	2.896003	0.38372	20.7	0.99739241785273314	0.83337	0.83438	0.42555	D	AEFDBHCI	0.349293	0.44313	N	-0.232984612980834	0.31788	1.785977	-0.047994614641555	0.37578	2.202077	0.999999543180782	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	5.32	4.39	0.52211	1.312000	0.33179	4.819000	0.45103	0.524000	0.24156	0.135000	0.23427	1.000000	0.68203	0.997000	0.79791	0.0:0.9206:0.0:0.0794	13.171	0.59021	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.003817	0.08333	743.83	34	chr1	75137116	.	C	T	743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.719;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=0.623;SOR=0.648	GT:AD:DP:GQ:PL	0/1:14,29:43:99:754,0,341	5	0	1	0
chr1	84408479	84408479	A	T	exonic	DNASE2B	.	stopgain	DNASE2B:NM_021233:exon3:c.A346T:p.K116X	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0009	0.0001	0	0	0.0043	0.0011	0.0025	0	0.0007374	114	154602	rs200167839	0.0007	0.0007	0.0006	0.0007	0.0005	0.0006	0.0006	0.0005	0.0005	5.993e-05	4.498e-05	0	0	0.0063	0	0.0005	0.0005	6.986e-05	0.0011	0.0011	0.0010	0.0012	0.0015	0.0009	0.0009	0.0012	0.0011	2.406e-05	0	0	0	0	0.0059	0	0.0015	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.065751	0.02192	N	1.816730	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0323639	0.56037	T	0.272239	0.86698	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.100594	0.94561	34	0.99124151878230504	0.53063	0.06930	0.12956	N	AEFBI	0.078892	0.15925	N	0.0779747374515968	0.45437	2.800211	-0.224260320763264	0.30669	1.728801	6.71144635384783E-4	0.07599	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.48	-0.528	0.11310	0.007000	0.13074	3.144000	0.36496	0.688000	0.82842	0.000000	0.06391	0.017000	0.20586	0.884000	0.42379	0.3484:0.2256:0.307:0.119	1.651	0.02604	513	0.74941	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	772.83	37	chr1	84408479	.	A	T	772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=246;ExcessHet=0;FS=4.457;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.753;SOR=1.058	GT:AD:DP:GQ:PL	0/1:44,32:76:99:783,0,1075	5	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	.	.	.	.	.	.	.	.	0.4	338.61	61	chr1	85158757	.	C	G	338.61	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.43;DP=368;ExcessHet=3.1439;FS=172.787;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=0.604;SOR=8.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,17:61:99:.:.:132,0,482:.	1	0	4	1
chr1	85464786	85464786	G	A	exonic	DDAH1	.	nonsynonymous SNV	DDAH1:NM_012137:exon1:c.C260T:p.T87M	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.0880683401548	0.0004	0.000199681	0.0013	0.0003	0.0003	0	0.0027	0.0019	0.0030	0.0002	0.0009702	150	154602	rs139393958	0.0013	0.0013	0.0014	0.0013	0.0015	0.0013	0.0013	0.0015	0.0014	0.0002	0.0003	0.0006	0	0.0017	0.0012	0.0015	0.0012	0.0004	0.0010	0.0010	0.0009	0.0010	0.0015	0.0008	0.0008	0.0012	0.0012	0.0002	0	0.0004	0	0	0.0025	0	0.0015	0	0.0010	0.004	0.65419	D	0.018	0.59732	D	0.997	0.70673	D	0.887	0.62952	P	0.000209	0.47681	D	0.136023	1	0.81001	D	2.775	0.80997	M	.	.	.	-2.81	0.59389	D	0.766	0.76388	-0.2048	0.77546	T	0.433	0.77426	T	9	0.1203928	0.22802	T	0.088068	0.75061	D	0.595	0.83911	.	.	0.658958933578	0.65610	0.7144218370268028	0.71385	1.06807590383	0.76700	0.809051036835	0.83346	D	0.805079	0.95069	D	-0.187839	0.22575	T	-0.0498573	0.67032	D	0.125128418207169	0.14925	T	0.938806	0.76978	D	0.76213145	0.81579	0.6184795	0.77783	0.76213145	0.81581	0.6184795	0.77784	-7.459	0.57322	T	.	.	0.196	0.41723	B	.	.	5.476906	0.91337	32	0.99896642850937734	0.96971	0.96327	0.68596	D	ALL	0.918891	0.88861	D	0.786228993530717	0.85237	8.516407	0.740241625442404	0.85425	8.57709	1.0	0.98316	0.72623	0.87236	0	0.609123	0.50646	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.91	4.91	0.63897	8.500000	0.90331	11.469000	0.92852	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.064	0.89312	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1301.83	36	chr1	85464786	.	G	A	1301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=256;ExcessHet=0;FS=0.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=1.41;SOR=0.84	GT:AD:DP:GQ:PL	0/1:33,48:81:99:1312,0,704	5	0	1	0
chr1	86438966	86438966	G	T	exonic	CLCA2	.	nonsynonymous SNV	CLCA2:NM_006536:exon7:c.G1063T:p.D355Y	.	423	1086	12	0	1	13	0.00549451	.	.	.	2808988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.140	0.0365563410494	0.0041	0.00219649	0.0039	0.0007	0.0011	0	0.0015	0.0052	0.0077	0.0053	0.003758	581	154602	rs55906076	0.0040	0.0040	0.0038	0.0042	0.0067	0.0039	0.0039	0.0063	0.0061	0.0004	0.0017	0.0077	0	0.0016	0.0019	0.0042	0.0039	0.0067	0.0028	0.0028	0.0030	0.0026	0.0048	0.0026	0.0025	0.0037	0.0036	0.0010	0	0.0027	0.0081	0.0006	0.0009	0	0.0041	0.0024	0.0048	0.002	0.72154	D	0.007	0.69154	D	0.707	0.42016	P	0.297	0.40924	B	0.241412	0.15703	N	0.659654	1	0.08975	N	2.38	0.68558	M	-0.39	0.69158	T	-4.51	0.78222	D	0.422	0.46180	-0.9648	0.38250	T	0.098	0.36728	T	10	0.018166423	0.00393	T	0.036556	0.57066	D	0.140	0.37593	.	.	0.369682402691	0.36581	0.46699625617902873	0.46618	0.21499238779	0.24033	0.291769534349	0.09180	T	0.321656	0.69273	T	-0.370775	0.03555	T	-0.302757	0.44433	T	0.0506806068041719	0.05619	T	0.687031	0.29593	T	0.10298611	0.24339	0.15780772	0.36881	0.10298611	0.24339	0.15780772	0.36880	-9.152	0.68670	D	.	.	0.189	0.40698	B	.	.	1.084817	0.14682	11.23	0.97248128504294673	0.33029	0.04210	0.09722	N	AEFBI	0.078339	0.15804	N	-0.81498642951122	0.12927	0.6333836	-0.989298611799586	0.10024	0.5023379	0.0124267958443077	0.12326	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.92	-2.97	0.05195	0.101000	0.15088	-0.126000	0.11669	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.3835:0.1146:0.3902:0.1117	3.290	0.06538	732	0.54084	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.026515	0.08333	1773.83	33	chr1	86438966	.	G	T	1773.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=315;ExcessHet=0;FS=2.196;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.9;SOR=0.505	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1784,0,1555	5	0	1	0
chr1	92704581	92704581	G	A	exonic	EVI5	.	nonsynonymous SNV	EVI5:NM_001308248:exon3:c.C445T:p.R149C,EVI5:NM_001350197:exon3:c.C313T:p.R105C,EVI5:NM_001350198:exon3:c.C313T:p.R105C,EVI5:NM_001377210:exon3:c.C436T:p.R146C,EVI5:NM_001377211:exon3:c.C313T:p.R105C,EVI5:NM_001377212:exon3:c.C313T:p.R105C,EVI5:NM_001377213:exon3:c.C313T:p.R105C,EVI5:NM_005665:exon3:c.C445T:p.R149C	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0267982799449	.	.	2.535e-05	0	0	0.0001	0	0	0	0.0001	2.59e-05	4	154602	rs200740554	1.753e-05	2.257e-05	2.233e-05	1.268e-05	3.151e-05	1.203e-05	1.017e-05	1.314e-05	1.122e-05	3.151e-05	0	0	0	1.902e-05	0	2.007e-05	0	1.251e-05	1.316e-05	1.314e-05	1.286e-05	1.348e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.169	0.22920	T	0.171	0.30436	T	0.999	0.77913	D	0.836	0.59919	P	0.000004	0.62929	D	0.143577	1	0.81001	D	1.845	0.48678	L	3.64	0.04309	T	-3.44	0.67477	D	0.56	0.58883	-1.0127	0.26070	T	0.019	0.07893	T	10	0.503372	0.61677	D	0.026798	0.49675	D	0.142	0.37995	.	.	0.529161192476	0.52563	0.6576374033194198	0.65700	0.326190094163	0.34767	0.706628262997	0.68104	T	0.022993	0.17626	T	0.0286046	0.55536	T	-0.196688	0.54959	T	0.938514828681946	0.60919	D	0.99565	0.98465	D	0.24532685	0.47490	0.20893987	0.45217	0.24532685	0.47490	0.20893987	0.45216	-6.203	0.47947	T	.	.	0.097	0.20235	B	.;.	.;.	5.562350	0.92146	32	0.9989948977176093	0.97199	0.94327	0.60813	D	AEFBI	0.666810	0.63515	D	0.612566046725236	0.73969	6.053634	0.641340164876147	0.77965	6.782486	0.99953873028647	0.40238	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.550000	0.60443	7.599000	0.61500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0738:0.0:0.9262:0.0	12.938	0.57724	281	0.88893	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.08333	835.83	36	chr1	92704581	.	G	A	835.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.621;DP=246;ExcessHet=0;FS=0.919;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.686;SOR=0.549	GT:AD:DP:GQ:PL	0/1:36,35:71:99:846,0,822	5	0	1	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1444	76	2	0	80	0.0269542	.	.	YES	22927	Macular_dystrophy|Severe_early-childhood-onset_retinal_dystrophy|Inborn_genetic_diseases|Retinitis_pigmentosa_19|Age_related_macular_degeneration_2|Cone-rod_dystrophy_3|Retinal_dystrophy|See_cases|Retinitis_pigmentosa|not_specified|Cone_dystrophy|ABCA4-related_retinopathy|Syndromic_retinitis_pigmentosa|not_provided|ABCA4-related_disorder|Stargardt_disease|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO	Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C5680332,Orphanet:98661|MedGen:C3661900|MedGen:CN239167|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.005051	0.020380	0.023392	0.000000	0.043103	0.015244	0.030303	0.08333	1231.83	33	chr1	94008251	.	C	T	1231.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.81;DP=260;ExcessHet=0;FS=1.734;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.279;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1242,0,1118	5	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1091.96	47	chr1	99884396	.	T	C	1091.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.345;DP=458;ExcessHet=3.1439;FS=166.15;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.53;ReadPosRankSum=0.591;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,26:92:99:.:.:306,0,1552:.	2	0	4	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	482.03	48	chr1	99884400	.	T	C	482.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.255;DP=427;ExcessHet=1.383;FS=229.354;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.338;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,17:87:83:.:.:83,0,2347:.	3	0	3	0
chr1	109197578	109197578	-	A	exonic	ELAPOR1	.	frameshift insertion	ELAPOR1:NM_001284353:exon9:c.1213dupA:p.I405Nfs*22,ELAPOR1:NM_001267048:exon14:c.1966dupA:p.I656Nfs*22,ELAPOR1:NM_001284352:exon15:c.1921dupA:p.I641Nfs*22,ELAPOR1:NM_020775:exon16:c.2227dupA:p.I743Nfs*22	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3000.03	34	chr1	109197578	.	C	CA	3000.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.492;DP=402;ExcessHet=0.4139;FS=1.62;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.46;SOR=0.685	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1285,0,2076	4	0	2	0
chr1	109296879	109296879	C	T	exonic	MYBPHL	.	nonsynonymous SNV	MYBPHL:NM_001010985:exon5:c.G634A:p.G212S,MYBPHL:NM_001265613:exon5:c.G565A:p.G189S	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.190070852751	0.0002	0.000199681	0.0004	0	0.0003	0	0	0.0005	0	0.0008	0.0001921	5	26028	rs140827712	0.0003	0.0003	0.0003	0.0003	0.0038	0.0003	0.0002	0.0026	0.0022	2.987e-05	0.0002	0	2.519e-05	0	0.0038	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	0	0	0.0002	0	0	0	0	0.0004	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999819	0.49394	D	3.72	0.94773	H	0.08	0.61559	T	-5.85	0.88495	D	0.581	0.60241	-0.1360	0.79261	T	0.370	0.72963	T	9	0.3620591	0.52810	T	0.190071	0.86102	D	0.528	0.80067	.	.	0.896085941692	0.89505	0.47216995120068683	0.47135	0.623771184551	0.56604	0.58106136322	0.50235	T	0.148583	0.48720	T	-0.164479	0.26074	T	-0.0945439	0.63816	T	0.390572978037952	0.28586	T	0.991072	0.97257	D	0.7022109	0.78177	0.76681715	0.86228	0.7022109	0.78179	0.76681715	0.86229	-9.856	0.73045	D	.	.	0.534	0.66081	A	.	.	4.297093	0.65585	24.8	0.99849773673670417	0.92925	0.98765	0.86563	D	AEFDBI	0.823163	0.74333	D	0.682712693359012	0.78499	6.884157	0.567840226701742	0.72646	5.843025	0.999999999206493	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.91	4.0	0.45673	5.802000	0.68783	4.051000	0.41508	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.981000	0.58702	0.168:0.832:0.0:0.0	12.496	0.55269	644	0.63734	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.1667	4845.06	42	chr1	109296879	.	C	T	4845.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.83;DP=536;ExcessHet=0.4139;FS=1.239;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.08;SOR=0.771	GT:AD:DP:GQ:PL	0/1:103,69:172:99:1970,0,2636	4	0	2	0
chr1	109758052	109758052	G	T	exonic	EPS8L3	.	nonsynonymous SNV	EPS8L3:NM_001319952:exon8:c.C625A:p.L209M,EPS8L3:NM_024526:exon9:c.C724A:p.L242M,EPS8L3:NM_133181:exon9:c.C724A:p.L242M,EPS8L3:NM_139053:exon9:c.C727A:p.L243M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0732947253702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000181	0.48115	D	0.096993	0.999774	0.48980	D	2.52	0.73523	M	0.99	0.81318	T	-1.93	0.44852	N	0.648	0.65930	0.157	0.85178	D	0.571	0.84499	D	10	0.50233066	0.61620	D	0.073295	0.71752	D	0.449	0.75004	0.377	0.39156	0.654265926928	0.65138	0.45954651212334396	0.45872	0.464151656915	0.45893	0.500180602074	0.38853	T	0.138371	0.47182	T	0.131113	0.67469	D	-0.0494422	0.67060	D	0.983422756195068	0.75096	D	0.679332	0.28809	T	0.4613492	0.64755	0.4627329	0.68807	0.4613492	0.64755	0.4627329	0.68808	-6.831	0.53712	T	0.8458529850787996	0.91327	0.288	0.52010	B	.;.;.	.;.;.	4.003166	0.59000	24.0	0.9945025874216793	0.65223	0.90144	0.51092	D	AEFBI	0.327908	0.42873	N	0.295084464084936	0.55900	3.75404	0.189722915797704	0.49282	3.133355	0.957796685293268	0.28325	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	3.37	0.37692	2.505000	0.45084	5.615000	0.49067	-0.105000	0.15698	0.996000	0.39380	1.000000	0.68203	0.918000	0.45347	0.1659:0.0:0.8341:0.0	9.683	0.39243	564	0.70960	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	93.83	36	chr1	109758052	.	G	T	93.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.56;DP=214;ExcessHet=0;FS=43.483;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=0.246;SOR=5.783	GT:AD:DP:GQ:PL	0/1:38,17:55:99:104,0,878	5	0	1	0
chr1	111319364	111319364	T	C	exonic	CHIA	.	nonsynonymous SNV	CHIA:NM_001258002:exon7:c.T590C:p.M197T,CHIA:NM_021797:exon8:c.T749C:p.M250T,CHIA:NM_001040623:exon9:c.T590C:p.M197T,CHIA:NM_001258003:exon9:c.T749C:p.M250T,CHIA:NM_001258001:exon10:c.T749C:p.M250T,CHIA:NM_001258005:exon10:c.T590C:p.M197T,CHIA:NM_001258004:exon11:c.T590C:p.M197T,CHIA:NM_201653:exon11:c.T1073C:p.M358T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0134561446403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867998770	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0003	1.99e-06	1.28e-06	6.094e-05	2.522e-05	2.987e-05	0	0	0	0	0.0003	3.597e-06	0	0	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.946	0.53363	P	0.91	0.64641	D	0.000019	0.62929	N	0.064020	0.997536	0.43968	D	3.35	0.91085	M	2.98	0.09356	T	-4.82	0.82700	D	0.698	0.70790	-0.8604	0.51234	T	0.090	0.34491	T	10	0.9344397	0.92777	D	0.013456	0.32880	T	0.307	0.62838	0.855	0.95491	0.351614576976	0.34778	0.8600486123024969	0.85968	0.219014460907	0.24440	0.497991591692	0.38548	T	0.301749	0.67418	T	0.175149	0.71595	D	0.0138125	0.71229	D	0.99208128452301	0.82482	D	0.824517	0.48860	T	0.9339531	0.94634	0.88346624	0.93805	0.9339531	0.94635	0.88346624	0.93806	-9.723	0.72237	D	.	.	0.485	0.70787	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.345171	0.46112	22.2	0.99240396778574913	0.56533	0.90221	0.51227	D	AEFDBHCI	0.632233	0.61292	D	0.770955100038875	0.84262	8.238801	0.670685777687199	0.80159	7.237324	0.992614966423781	0.32904	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.278000	0.58741	2.877000	0.35304	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.0:0.0:1.0	12.874	0.57372	828	0.39726	Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1287.06	36	chr1	111319364	.	T	C	1287.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.672;DP=299;ExcessHet=0.4139;FS=13.075;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.14;SOR=0.219	GT:AD:DP:GQ:PL	0/1:42,29:71:99:695,0,1257	4	0	2	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	.	.	.	.	.	.	.	.	0.4	589.38	89	chr1	114732648	.	C	G	589.38	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.279;DP=588;ExcessHet=3.1439;FS=460.937;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=2.38;SOR=10.1	GT:AD:DP:GQ:PL	0/1:72,38:136:99:233,0,864	1	0	4	1
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	.	.	.	.	.	.	.	.	0.1667	39.3	88	chr1	145872713	.	C	G	39.3	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-4.177;DP=467;ExcessHet=0;FS=72.524;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=-0.453;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,21:129:46:0|1:145872713_C_G:46,0,3903:145872713	2	0	1	3
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	.	.	.	.	.	.	.	.	0.125	37.68	82	chr1	145872714	.	C	G	37.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-5.031;DP=472;ExcessHet=0;FS=72.524;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.29;ReadPosRankSum=-0.472;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,21:129:46:0|1:145872713_C_G:46,0,3903:145872713	3	0	1	2
chr1	146972879	146972879	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon17:c.A1720G:p.K574E	.	427	1073	20	2	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.00499201	0.0046	0.0009	0.0019	0.0019	0.0004	0.0040	0.0095	0.0126	0.0032535	503	154602	rs587713092	0.0030	0.0028	0.0027	0.0034	0.0107	0.0029	0.0029	0.0081	0.0078	0.0006	0.0010	0.0118	0.0005	0.0003	0.0107	0.0026	0.0041	0.0085	0.0022	0.0022	0.0022	0.0022	0.0090	0.0020	0.0019	0.0069	0.0061	0.0004	0.0077	0.0032	0.0098	0.0006	0.0003	0.0068	0.0025	0.0038	0.0090	.	.	.	0.803	0.04029	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.104	0.12770	-0.9100	0.46854	T	0.003	0.01059	T	6	0.0058377385	0.00130	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.011847358659128697	0.01144	.	.	.	.	.	.	.	.	-0.131731	0.31217	T	-0.426999	0.30276	T	0.00499942962845069	0.00054	T	0.662034	0.28021	T	0.08749157	0.20374	0.09260015	0.21830	0.08749157	0.20374	0.09260015	0.21830	-5.829	0.44826	T	.	.	0.202	0.57987	B	.;.;.;.;.	.;.;.;.;.	0.990383	0.13680	10.22	0.94131061147928841	0.24314	0.00402	0.02007	N	AEFI	0.042461	0.06590	N	-0.760218732338179	0.14357	0.7145113	-1.00286275451666	0.09722	0.4853356	1.1612182184111E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.962	-0.645	0.10899	0.698000	0.25249	-0.773000	0.07487	-0.741000	0.03665	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5814:0.4186:0.0:0.0	3.593	0.07543	742	0.52873	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	4088.06	34	chr1	146972879	.	A	G	4088.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.23;DP=458;ExcessHet=0.4139;FS=1.871;MLEAC=2;MLEAF=0.167;MQ=52.69;MQRankSum=1.02;QD=13.1;ReadPosRankSum=1.05;SOR=0.823	GT:AD:DP:GQ:PL	0/1:82,83:165:99:2059,0,2182	4	0	2	0
chr1	148566185	148566185	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon24:c.G3166C:p.A1056P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.015627169279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.22998	.	.	.	.	.	.	.	0.14950895	0.28293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.894111	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.941	0.86011	P	.;.	.;.	0.984565	0.13624	10.15	.	.	.	.	.	.	0.052268	0.09315	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.680000	0.02040	-15.955000	0.00333	-1.793000	0.00635	0.979000	0.35152	0.000000	0.08366	0.002000	0.04165	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	329.19	12	chr1	148566185	.	C	G	329.19	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.999;DP=62;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=39.14;MQRankSum=0.826;QD=13.72;ReadPosRankSum=1.29;SOR=0.43	GT:AD:DP:GQ:PL	0/1:4,8:12:99:296,0,132	4	0	2	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	.	.	.	.	.	.	.	.	0.5	8202.55	266	chr1	149075685	.	C	A	8202.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.61;DP=2144;ExcessHet=11.5949;FS=8.173;MLEAC=6;MLEAF=0.5;MQ=46.31;MQRankSum=-4.83;QD=3.87;ReadPosRankSum=-0.703;SOR=1.392	GT:AD:DP:GQ:PL	0/1:300,57:357:99:764,0,8478	0	0	6	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	281.06	37	chr1	149476000	.	C	A	281.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.47;DP=513;ExcessHet=0.4139;FS=46.526;MLEAC=2;MLEAF=0.167;MQ=31.82;MQRankSum=-2.617;QD=0.91;ReadPosRankSum=-2.349;SOR=5.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,12:161:35:0|1:149475995_C_T:35,0,6178:149475995	4	0	2	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	.	.	.	.	.	.	.	.	0.1667	292.06	37	chr1	149476006	.	G	A	292.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.56;DP=538;ExcessHet=0.4139;FS=30.891;MLEAC=2;MLEAF=0.167;MQ=32.15;MQRankSum=-2.299;QD=0.92;ReadPosRankSum=-2.808;SOR=3.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,13:162:57:0|1:149475995_C_T:57,0,6135:149475995	4	0	2	0
chr1	149930961	149930961	G	A	exonic	MTMR11	.	nonsynonymous SNV	MTMR11:NM_181873:exon13:c.C1079T:p.P360L,MTMR11:NM_001145862:exon14:c.C1295T:p.P432L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.181441812018	0.0002	.	9.394e-05	0	0	0	0	0.0002	0	7.751e-05	8.41e-05	13	154602	rs145144126	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	6.241e-05	2.522e-05	3.984e-05	0	0	0	0.0003	0.0002	4.809e-05	0.0001	0.0001	7.713e-05	0.0001	0.0002	6.518e-05	5.328e-05	0.0001	8.878e-05	4.832e-05	0	6.557e-05	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.725	0.94815	H	-4.59	0.97830	D	-7.98	0.96395	D	0.965	0.97535	-0.3786	0.72695	T	0.285	0.65715	T	10	0.95867443	0.95252	D	0.181442	0.85556	D	0.969	0.99622	.	.	0.846503013873	0.84503	0.8339606682179646	0.83355	0.724763160997	0.62413	0.697721481323	0.66815	T	0.83867	0.96217	D	0.376072	0.88455	D	0.598617	0.96981	D	0.989259600639343	0.79502	D	0.941806	0.79148	D	0.8556804	0.87758	0.778134	0.86915	0.8556804	0.87760	0.778134	0.86916	-10.878	0.78984	D	.	.	0.67	0.71734	P	.;.	.;.	5.561439	0.92141	32	0.99892067530536399	0.96589	0.97802	0.77240	D	AEFBI	0.948096	0.95935	D	0.696612190467799	0.79409	7.071807	0.701032097777204	0.82458	7.771721	0.999999999997024	0.74766	0.653281	0.48532	0	0.588066	0.40923	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.16	5.16	0.70563	8.626000	0.90739	11.859000	0.98275	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	17.381	0.87294	212	0.91760	.;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	.	.	.	.	.	.	.	.	0.1667	2216.06	33	chr1	149930961	.	G	A	2216.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.65;DP=311;ExcessHet=0.4139;FS=1.213;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-1.047;SOR=0.588	GT:AD:DP:GQ:PL	0/1:48,35:83:99:1004,0,1293	4	0	2	0
chr1	150497648	150497648	C	A	exonic	TARS2	.	nonsynonymous SNV	TARS2:NM_001271896:exon6:c.C749A:p.P250H,TARS2:NM_001271895:exon8:c.C893A:p.P298H,TARS2:NM_025150:exon10:c.C1139A:p.P380H	.	431	1088	3	0	0	3	0.00137678	.	.	.	1363700	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0845994468298	.	0.000199681	0.0001	0	8.657e-05	0	0	7.502e-05	0	0.0007	0.0001294	20	154602	rs587721894	8.619e-05	8.619e-05	7.759e-05	9.488e-05	0.0006	7.353e-05	6.903e-05	0.0004	0.0004	2.987e-05	6.708e-05	3.826e-05	0	0	0.0005	5.575e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	8.662e-05	7.254e-05	0.0002	0.0001	2.407e-05	0	0.0004	0	0	0	0	0.0001	0	0.0006	0.126	0.78490	T	0.181	0.52060	T	0.808	0.45299	P	0.8	0.58175	P	0.003238	0.35241	N	0.283792	1	0.81001	D	1.23	0.30720	L	-0.24	0.66834	T	-2.29	0.55983	N	0.377	0.42345	-0.5007	0.68625	T	0.206	0.56444	T	10	0.1548107	0.29193	T	0.084599	0.74360	D	0.201	0.48592	.	.	0.853399124583	0.85198	0.5936698327835616	0.59296	1.21200435668	0.80862	0.281450033188	0.07695	T	0.021994	0.27163	T	-0.254745	0.13523	T	-0.281734	0.46626	T	0.111797794699669	0.13608	T	0.830817	0.49719	T	0.20195986	0.42224	0.22463775	0.47382	0.20195986	0.42224	0.22463775	0.47381	-6.751	0.55078	T	0.09829558216546493	0.07013	0.121	0.24967	B	.;.;.;.	.;.;.;.	3.301499	0.45322	22.1	0.9930505711510057	0.58795	0.73158	0.35789	D	AEFDBI	0.296632	0.40643	N	0.0504239592432192	0.44163	2.695325	0.0138400890027105	0.40356	2.407172	0.00654499659430083	0.11246	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	4.62	0.56946	1.047000	0.29976	3.270000	0.37153	0.596000	0.33519	0.183000	0.24101	0.173000	0.23359	0.947000	0.49155	0.0:0.8555:0.1445:0.0	14.685	0.68655	154	0.93967	Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;.;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2285.06	35	chr1	150497648	.	C	A	2285.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.48;DP=366;ExcessHet=0.4139;FS=0.499;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.15;SOR=0.665	GT:AD:DP:GQ:PL	0/1:59,45:104:99:978,0,1517	4	0	2	0
chr1	151814975	151814975	C	T	exonic	RORC	.	nonsynonymous SNV	RORC:NM_001001523:exon4:c.G686A:p.S229N,RORC:NM_005060:exon5:c.G749A:p.S250N	Immunodeficiency 42, Autosomal recessive	416	1101	5	0	0	5	0.00226552	.	.	.	447201	Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency|not_provided	MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.178	0.035382658425	0.0034	0.00239617	0.0035	0.0008	0.0042	0	0.0009	0.0052	0.0011	0.0010	0.0035769	553	154602	rs41263732	0.0045	0.0045	0.0046	0.0044	0.0062	0.0044	0.0044	0.0053	0.0052	0.0011	0.0050	0.0010	0	0.0009	0.0062	0.0054	0.0035	0.0007	0.0036	0.0036	0.0037	0.0035	0.0077	0.0034	0.0033	0.0066	0.0062	0.0008	0	0.0077	0.0009	0	0.0005	0	0.0056	0.0043	0.0010	0.319	0.13610	T	0.562	0.09052	T	0.0	0.02946	B	0.002	0.06944	B	0.491828	0.12048	U	0.708276	0.985251	0.27394	N	0.4	0.12274	N	-3.44	0.94469	D	-0.55	0.16799	N	0.107	0.12770	-0.6230	0.63864	T	0.463	0.79229	T	10	0.006422162	0.00145	T	0.035383	0.56311	D	0.178	0.44724	.	.	0.0675242888579	0.06100	0.2991254456685456	0.29825	0.502364597642	0.48596	0.319736391306	0.13381	T	0.046419	0.27419	T	-0.406512	0.02097	T	-0.352698	0.38896	T	0.00503885002551602	0.00054	T	0.593441	0.21910	T	0.050329994	0.09075	0.043403666	0.05390	0.043574948	0.06814	0.05565613	0.09803	-5.559	0.42847	T	.	.	0.086	0.10497	B	.;.	.;.	1.781456	0.22647	15.71	0.91852323807667569	0.21165	0.47943	0.28096	N	AEFGBI	0.331338	0.43109	N	-0.612297205863135	0.18573	0.9653918	-0.569535625930826	0.20289	1.092451	0.999905428536492	0.45458	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.35	-0.194	0.12590	0.329000	0.19442	0.591000	0.19822	0.599000	0.40250	0.960000	0.33603	0.178000	0.23398	0.923000	0.45890	0.1583:0.5105:0.1396:0.1916	2.431	0.04199	580	0.69689	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.000000	0.009511	0.011696	0.000000	0.025862	0.006098	0.007576	0.1667	2227.06	36	chr1	151814975	.	C	T	2227.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.633;DP=331;ExcessHet=0.4139;FS=4.448;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=2.8;SOR=0.428	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1133,0,1154	4	0	2	0
chr1	152080329	152080329	G	A	exonic	LOC100131107	.	nonsynonymous SNV	LOC100131107:NM_001310142:exon1:c.C479T:p.T160M	.	413	1106	2	1	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987115451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.203e-05	9.195e-05	0.0001	6.729e-05	0.0003	5.53e-05	4.367e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	2.941e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3015.06	39	chr1	152080329	.	G	A	3015.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.31;DP=371;ExcessHet=0.4139;FS=3.083;MLEAC=2;MLEAF=0.167;MQ=55.5;MQRankSum=1.75;QD=14.29;ReadPosRankSum=-0.748;SOR=0.905	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1491,0,1288	4	0	2	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	285.01	227	chr1	152214827	.	A	*	285.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=6;DP=2005;ExcessHet=11.5949;FS=42.868;MLEAC=5;MLEAF=0.417;MQ=27.08;MQRankSum=1.49;QD=0.14;ReadPosRankSum=-4.79;SOR=9.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,59:455:99:0|1:152214821_T_A:1146,0,16311:152214821	1	0	5	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	237.97	217	chr1	152214830	.	C	*	237.97	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.353;DP=1996;ExcessHet=11.5949;FS=43.009;MLEAC=5;MLEAF=0.417;MQ=26.78;MQRankSum=1.21;QD=0.12;ReadPosRankSum=-4.939;SOR=9.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,59:455:99:0|1:152214821_T_A:1146,0,16311:152214821	1	0	5	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	1658.67	378	chr1	152219783	.	T	C	1658.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=7.5;DP=2775;ExcessHet=1.383;FS=32.44;MLEAC=3;MLEAF=0.3;MQ=51.93;MQRankSum=-9.252;QD=1.26;ReadPosRankSum=-6.399;SOR=3.92	GT:AD:DP:GQ:PL	0/1:416,61:477:99:764,0,12171	2	0	3	1
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	553.96	86	chr1	153760378	.	C	G	553.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.351;DP=611;ExcessHet=3.1439;FS=310.595;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.594;SOR=10.364	GT:AD:DP:GQ:PL	0/1:83,31:128:97:97,0,1146	2	0	4	0
chr1	154337411	154337411	G	A	exonic	ATP8B2	.	nonsynonymous SNV	ATP8B2:NM_001367934:exon11:c.G958A:p.E320K,ATP8B2:NM_001005855:exon12:c.G901A:p.E301K,ATP8B2:NM_001370596:exon12:c.G901A:p.E301K,ATP8B2:NM_001370597:exon12:c.G901A:p.E301K,ATP8B2:NM_001372009:exon12:c.G901A:p.E301K	.	410	1078	33	1	0	35	0.0159744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.0169390783709	0.0031	0.00179712	0.0037	0.0007	0.0026	0.0002	0.0014	0.0049	0.0099	0.0042	0.0034152	528	154602	rs41304564	0.0027	0.0027	0.0026	0.0028	0.0113	0.0026	0.0026	0.0091	0.0083	0.0002	0.0019	0.0104	0.0002	0.0016	0.0113	0.0025	0.0035	0.0047	0.0024	0.0024	0.0025	0.0023	0.0046	0.0022	0.0021	0.0031	0.0030	0.0003	0.0033	0.0016	0.0112	0.0002	0.0020	0.0102	0.0035	0.0033	0.0046	0.64	0.05002	T	0.877	0.03250	T	0.04	0.21357	B	0.013	0.16460	B	0.000000	0.84330	D	0.000000	0.999707	0.48408	D	.	.	.	-2.37	0.88220	D	-0.58	0.19720	N	0.306	0.34552	-0.7169	0.59615	T	0.223	0.58742	T	10	0.0077991486	0.00177	T	0.016939	0.38428	T	0.355	0.67600	.	.	0.781140881159	0.77911	0.635693494009724	0.63503	0.628108854042	0.56883	0.59986948967	0.52886	T	.	.	.	-0.141578	0.29639	T	0.0237126	0.71870	D	0.0124413987690525	0.00204	T	0.853215	0.53849	D	.	.	.	.	.	.	.	.	-7.122	0.59161	T	.	.	0.113	0.22428	B	.;.	.;.	3.212134	0.43726	21.8	0.98843403016275333	0.47169	0.94733	0.62143	D	AEFBI	0.486704	0.52576	N	-0.302990982930507	0.29035	1.606549	-0.0620030983154683	0.36975	2.158833	0.999999712195385	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	1.795000	0.38418	4.976000	0.46431	0.596000	0.33519	0.979000	0.35152	1.000000	0.68203	0.749000	0.35751	0.0855:0.0:0.9145:0.0	10.905	0.46283	359	0.84979	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.009146	0.007576	0.08333	1365.83	33	chr1	154337411	.	G	A	1365.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.898;DP=263;ExcessHet=0;FS=5.588;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-1.418;SOR=0.309	GT:AD:DP:GQ:PL	0/1:38,52:90:99:1376,0,957	5	0	1	0
chr1	154558298	154558298	C	A	exonic	UBE2Q1	.	nonsynonymous SNV	UBE2Q1:NM_017582:exon1:c.G256T:p.A86S	.	325	1180	16	1	0	18	0.00756939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0022	0.00119808	0.0039	0.0004	0.0036	0	0.0020	0.0053	0.0140	0.0027	0.0022898	354	154602	rs202059318	0.0022	0.0022	0.0021	0.0023	0.0088	0.0021	0.0021	0.0067	0.0059	0.0003	0.0015	0.0057	0	0.0017	0.0088	0.0022	0.0026	0.0032	0.0019	0.0019	0.0020	0.0017	0.0037	0.0017	0.0016	0.0027	0.0025	0.0002	0.0033	0.0008	0.0046	0	0.0016	0.0034	0.0030	0.0024	0.0037	0.253	0.16958	T	0.363	0.16815	T	0.001	0.07471	B	0.001	0.04355	B	0.065141	0.21903	N	0.234110	0.955766	0.26322	N	0	0.06538	N	1.08	0.39401	T	0.19	0.04947	N	0.105	0.08925	-0.9951	0.31272	T	0.013	0.05321	T	10	0.005991876	0.00134	T	.	.	.	0.016	0.02506	.	.	0.182106788282	0.17826	0.21996386590725103	0.21912	1.05001893674	0.76114	0.756650805473	0.75431	T	0.018887	0.15149	T	-0.590259	0.00167	T	-0.622433	0.10995	T	0.0133708668250187	0.00241	T	0.444256	0.12390	T	0.08793063	0.20495	0.051356357	0.08247	0.08793063	0.20495	0.051356357	0.08246	-4.8	0.34591	T	.	.	0.079	0.07412	B	.	.	2.896957	0.38380	20.7	0.93188905231359431	0.22853	0.78922	0.39015	D	AEFDGBHCI	0.189454	0.31670	N	-0.670891570278855	0.16854	0.8623621	-0.536259242295464	0.21172	1.144064	0.999999756380639	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.4	-1.21	0.09033	-0.095000	0.11043	5.397000	0.48500	0.549000	0.26987	0.978000	0.35038	1.000000	0.68203	0.994000	0.71098	0.1578:0.4014:0.1543:0.2865	1.030	0.01439	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004578	0.000000	0.002732	0.002941	0.000000	0.008621	0.009146	0.000000	0.08333	293.83	33	chr1	154558298	.	C	A	293.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=209;ExcessHet=0;FS=1.228;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6;ReadPosRankSum=-1.174;SOR=0.96	GT:AD:DP:GQ:PL	0/1:35,14:49:99:304,0,775	5	0	1	0
chr1	156876514	156876514	C	T	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon13:c.C1729T:p.R577C,NTRK1:NM_001007792:exon14:c.C1639T:p.R547C,NTRK1:NM_002529:exon14:c.C1747T:p.R583C	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	626958	Inborn_genetic_diseases|not_provided|Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.694	0.151439010075	7.7e-05	.	4.317e-05	0	0	0	0	6.267e-05	0	6.242e-05	3.88e-05	6	154602	rs371344688	5.064e-05	5.062e-05	5.856e-05	4.264e-05	6.385e-05	4.127e-05	3.78e-05	5.161e-05	4.738e-05	2.987e-05	0	0	0	0	0	6.385e-05	1.656e-05	1.159e-05	4.599e-05	4.597e-05	6.423e-05	2.69e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.005	0.79402	D	0.958	0.68779	D	0.594	0.55870	P	0.034413	0.24774	N	0.353696	0.998161	0.44581	D	1.68	0.43186	L	-2.52	0.89363	D	-2.9	0.60827	D	0.518	0.55193	0.458	0.89949	D	0.668	0.88475	D	10	0.57029265	0.65281	D	0.151439	0.83299	D	0.694	0.88913	.	.	0.950158393516	0.94963	0.8195671141417424	0.81913	1.00756453028	0.74644	0.570352554321	0.48727	T	0.799605	0.94875	D	0.0127637	0.53401	T	-0.0889913	0.64237	T	0.724805891513824	0.41943	D	0.981702	0.93821	D	0.41087982	0.61478	0.40489647	0.64904	0.41087982	0.61479	0.40489647	0.64904	-7.426	0.59623	T	0.1018632862545588	0.07678	0.092	0.24633	B	.;.;.;.	.;.;.;.	4.333144	0.66407	25.0	0.99929109727838283	0.99279	0.85084	0.44188	D	AEFDBHCI	0.771306	0.70598	D	0.373914790114792	0.60012	4.185763	0.405917271442689	0.61932	4.400583	0.999999991912499	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	5.27	4.34	0.51267	-0.157000	0.10072	1.190000	0.24759	0.599000	0.40250	0.042000	0.21073	0.995000	0.32472	0.996000	0.76049	0.0:0.5511:0.4489:0.0	13.193	0.59145	556	0.71678	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	742.83	34	chr1	156876514	.	C	T	742.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=243;ExcessHet=0;FS=0.952;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.52;SOR=0.547	GT:AD:DP:GQ:PL	0/1:34,29:63:99:753,0,840	5	0	1	0
chr1	158547436	158547436	C	T	exonic	OR6Y1	.	nonsynonymous SNV	OR6Y1:NM_001005189:exon1:c.G670A:p.A224T	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0015387751791	0.0010	0.000199681	0.0009	0.0002	0.0003	0	0	0.0014	0.0022	0.0003	0.0008279	128	154602	rs146992928	0.0009	0.0009	0.0008	0.0009	0.0040	0.0008	0.0008	0.0027	0.0023	0.0003	0.0005	0.0040	0	3.744e-05	0.0040	0.0009	0.0012	0.0004	0.0009	0.0009	0.0009	0.0008	0.0012	0.0008	0.0007	0.0010	0.0009	0.0001	0.0252	0.0003	0.0046	0	0.0003	0	0.0012	0.0010	0.0004	0.201	0.20306	T	0.306	0.19972	T	0.056	0.22806	B	0.015	0.17295	B	0.642590	0.10585	N	0.784661	1	0.08975	N	0.16	0.08945	N	8.68	0.00126	T	-0.93	0.24898	N	0.052	0.02366	-1.1191	0.02389	T	0.000	0.00039	T	10	0.0053144097	0.00116	T	0.001539	0.02420	T	0.024	0.04979	.	.	0.154104182512	0.14974	0.08486840661116518	0.08420	0.0189071063277	0.01841	0.204613506794	0.00603	T	0.004171	0.03581	T	-0.692985	0.00040	T	-0.818642	0.01480	T	0.000954631542796552	0.00009	T	0.20398	0.02363	T	0.05890278	0.11908	0.048973188	0.07386	0.05890278	0.11907	0.048973188	0.07385	-4.283	0.27938	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	0.515303	0.08842	5.620	0.90374773179871482	0.19637	0.02112	0.06250	N	AEFI	0.026323	0.01955	N	-0.97067422974725	0.09233	0.4361947	-0.987821153001803	0.10058	0.5042222	1.34243232848879E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	1.16	0.19936	-0.304000	0.08238	-4.572000	0.02089	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5337:0.0:0.4663	7.730	0.27949	598	0.68232	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	0.002520	0.000000	0.001359	0.005882	0.000000	0.008621	0.003049	0.000000	0.1667	4048.06	120	chr1	158547436	.	C	T	4048.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.346;DP=561;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.828;SOR=0.686	GT:AD:DP:GQ:PL	0/1:70,87:157:99:2473,0,1845	4	0	2	0
chr1	159307919	159307919	C	T	exonic	FCER1A	.	nonsynonymous SNV	FCER1A:NM_002001:exon6:c.C761T:p.P254L	.	422	1095	5	0	0	5	0.0022779	.	.	.	706769	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.023	0.00756481039209	0.0015	.	0.0013	0.0002	0.0008	0	0	0.0021	0.0022	0	0.0010867	168	154602	rs143419433	0.0010	0.0010	0.0010	0.0010	0.0032	0.0010	0.0010	0.0021	0.0017	0.0003	0.0009	0.0264	0	0	0.0032	0.0005	0.0029	9.592e-05	0.0014	0.0014	0.0013	0.0015	0.0021	0.0012	0.0012	0.0015	0.0013	0.0002	0	0.0021	0.0323	0	0	0.0068	0.0008	0.0009	0	0.211	0.19569	T	0.0	0.92824	D	0.005	0.12996	B	0.006	0.12133	B	0.036253	0.01815	N	2.264110	1	0.08975	N	2.095	0.58118	M	4.62	0.02616	T	-1.76	0.41618	N	0.148	0.26837	-0.9041	0.47550	T	0.002	0.00676	T	10	0.005096704	0.00110	T	0.007565	0.20060	T	0.023	0.04649	.	.	0.187945064343	0.18414	0.33577782507057036	0.33490	0.0244559344279	0.02484	0.261030852795	0.05014	T	0.236659	0.60418	T	-0.612007	0.00123	T	-0.720705	0.04762	T	0.0151340211177305	0.00329	T	0.587441	0.21491	T	0.035280533	0.04123	0.037323512	0.03361	0.035280533	0.04122	0.037323512	0.03361	-3.556	0.17225	T	.	.	0.100	0.20819	B	.;.	.;.	1.310547	0.17138	12.98	0.89229461913344243	0.18619	0.05196	0.11019	N	AEFDHCIJ	0.087816	0.17805	N	-1.06090899850671	0.07375	0.3424118	-1.09207243728421	0.07855	0.3838161	1.78911533040488E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.08	-0.148	0.12767	-0.368000	0.07597	0.280000	0.16756	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.0:0.5387:0.1676:0.2937	4.238	0.10086	788	0.46569	.;.	.	.	.	.	.	Likely benign	0	0	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	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.1667	1116.06	21	chr1	159307919	.	C	T	1116.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.234;DP=177;ExcessHet=0.4139;FS=1.075;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.793;SOR=0.495	GT:AD:DP:GQ:PL	0/1:19,26:45:99:762,0,543	4	0	2	0
chr1	159313677	159313677	A	G	exonic	OR10J3	.	nonsynonymous SNV	OR10J3:NM_001004467:exon1:c.T983C:p.M328T	.	428	1093	1	0	0	1	0.000457247	.	.	.	3574136	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0040084188137	7.7e-05	.	5.249e-05	0	0	0	0	9.41e-05	0	0	3.88e-05	6	154602	rs143276088	8.703e-05	8.687e-05	9.546e-05	7.852e-05	0.0003	7.434e-05	6.982e-05	8.396e-05	7.812e-05	0	4.525e-05	0	0	0	0.0003	9.901e-05	0.0002	2.324e-05	4.599e-05	4.596e-05	6.421e-05	2.69e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.061	0.45530	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	6.77	0.00491	T	0.03	0.06612	N	0.167	0.17691	-0.9529	0.40468	T	0.000	0.00114	T	9	0.06644368	0.09113	T	0.004008	0.09525	T	0.041	0.10877	.	.	0.0666544352282	0.05500	.	.	0.00661704411499	0.00580	0.36120402813	0.19561	T	8.6E-4	0.00434	T	-0.379614	0.03133	T	-0.584748	0.14124	T	0.122302799492203	0.14653	T	0.184082	0.01896	T	0.5980961	0.72589	0.43925935	0.67284	0.5980961	0.72590	0.43925935	0.67284	-2.271	0.04399	T	.	.	0.116	0.23430	B	.	.	0.579002	0.09474	6.253	0.51363746247472575	0.04549	0.16702	0.19510	N	AEFI	0.035402	0.04548	N	-0.902572681048058	0.10782	0.5169384	-0.892739539607366	0.12265	0.629923	9.2126306216659E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.11	2.94	0.33188	0.703000	0.25321	-0.199000	0.10963	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.7809:0.2191:0.0:0.0	7.534	0.26866	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.006098	0.000000	0.1667	2232.06	36	chr1	159313677	.	A	G	2232.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.405;DP=341;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.573;SOR=0.709	GT:AD:DP:GQ:PL	0/1:45,55:100:99:1334,0,1282	4	0	2	0
chr1	159535485	159535485	G	C	exonic	OR10J5	.	nonsynonymous SNV	OR10J5:NM_001004469:exon1:c.C523G:p.H175D	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.000927517071217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.980157	0.25132	N	3.07	0.87108	M	8.62	0.00160	T	-8.47	0.97249	D	0.401	0.44187	-0.9482	0.41279	T	0.001	0.00255	T	9	0.48838633	0.60845	T	9.28E-4	0.00911	T	0.098	0.28162	0.411	0.44723	0.684580721633	0.68189	0.22180994193222983	0.22095	0.316640433507	0.33919	0.232837587595	0.02185	T	0.148524	0.48711	T	-0.0884683	0.38329	T	-0.364855	0.37489	T	0.969645202159882	0.68663	D	0.880912	0.59977	D	0.79058975	0.83310	0.65581053	0.79847	0.79058975	0.83311	0.65581053	0.79848	-9.818	0.72815	D	.	.	0.273	0.50645	B	.	.	3.206839	0.43630	21.8	0.9789343211297129	0.36690	0.60581	0.31236	D	AEFBI	0.162032	0.28817	N	0.0628955632937799	0.44737	2.742394	-0.206883303540009	0.31288	1.769295	3.40919712197393E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.91	2.01	0.25568	0.474000	0.21858	0.799000	0.21641	0.618000	0.50648	0.000000	0.06391	0.002000	0.18203	0.408000	0.26961	0.2208:0.0:0.5788:0.2003	3.440	0.07029	866	0.32446	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4787.06	35	chr1	159535485	.	G	C	4787.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.682;DP=546;ExcessHet=0.4139;FS=4.434;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.615;SOR=0.513	GT:AD:DP:GQ:PL	0/1:101,92:193:99:2418,0,2882	4	0	2	0
chr1	159809008	159809008	C	T	exonic	FCRL6	.	stopgain	FCRL6:NM_001004310:exon4:c.C367T:p.R123X,FCRL6:NM_001284217:exon5:c.C388T:p.R130X	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00199681	0.0022	0.0004	0.0013	0.0010	0.0003	0.0023	0.0022	0.0054	0.0021669	335	154602	rs145922130	0.0017	0.0017	0.0015	0.0018	0.0109	0.0016	0.0016	0.0088	0.0080	0.0005	0.0016	0.0006	0.0004	0.0003	0.0109	0.0016	0.0018	0.0047	0.0016	0.0016	0.0018	0.0015	0.0048	0.0015	0.0014	0.0033	0.0028	0.0005	0	0.0014	0.0009	0.0008	0.0004	0.0136	0.0025	0.0009	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.005441	0.01079	N	3.036110	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.233	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1661	0.25826	T	-0.0104141	0.69657	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant	.;.;.;High	5.646380	0.92777	33	0.94286463566834489	0.24586	0.00465	0.02234	N	AEFDBI	0.039168	0.05650	N	-0.363794316794164	0.26767	1.463456	-0.776061364364325	0.15083	0.7914741	0.019726814935807	0.13189	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.54	-4.25	0.03508	-2.320000	0.01200	-12.792000	0.00500	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3509:0.2211:0.0:0.428	3.578	0.07491	912	0.21483	.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.013587	0.000000	0.000000	0.000000	0.009146	0.000000	0.1667	3593.06	45	chr1	159809008	.	C	T	3593.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.57;DP=429;ExcessHet=0.4139;FS=0.443;MLEAC=2;MLEAF=0.167;MQ=59.98;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.73;SOR=0.651	GT:AD:DP:GQ:PL	0/1:65,85:150:99:2117,0,1394	4	0	2	0
chr1	160750307	160750307	C	T	exonic	SLAMF7	.	nonsynonymous SNV	SLAMF7:NM_001282590:exon3:c.C332T:p.A111V,SLAMF7:NM_001282594:exon3:c.C371T:p.A124V,SLAMF7:NM_001282595:exon3:c.C251T:p.A84V,SLAMF7:NM_001282596:exon3:c.C332T:p.A111V,SLAMF7:NM_001282592:exon4:c.C653T:p.A218V,SLAMF7:NM_021181:exon4:c.C653T:p.A218V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00830718538986	7.7e-05	.	2.478e-05	0	0	0	0	4.506e-05	0	0	1.94e-05	3	154602	rs143477393	1.505e-05	1.573e-05	1.498e-05	1.513e-05	2.32e-05	9.85e-06	8.42e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	4.969e-05	2.32e-05	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.229	0.35537	T	0.038	0.61642	D	0.952	0.54136	P	0.644	0.52249	P	0.439698	0.04753	N	1.357460	1	0.08975	N	2.085	0.57729	M	0.72	0.50976	T	-1.29	0.34397	N	0.235	0.26475	-1.0496	0.14509	T	0.072	0.29163	T	10	0.112574816	0.21120	T	0.008307	0.22004	T	0.063	0.18251	.	.	0.454518106513	0.45074	0.2247229013101845	0.22387	0.241443768577	0.26671	0.244025886059	0.03165	T	0.204103	0.56278	T	-0.366789	0.03760	T	-0.656986	0.08472	T	0.218775659799576	0.21402	T	0.471653	0.39623	T	0.035910055	0.04316	0.05803807	0.10657	0.035910055	0.04316	0.05803807	0.10656	-5.362	0.44083	T	.	.	0.108	0.26886	B	.;.;.;.	.;.;.;.	1.517562	0.19489	14.29	0.9742030735470123	0.33870	0.08111	0.14079	N	AEFGBCI	0.077961	0.15718	N	-0.563958264991717	0.20048	1.053982	-0.679861937781891	0.17465	0.9287712	0.999998411084667	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.94	1.51	0.22094	0.678000	0.24956	0.320000	0.17174	0.333000	0.19617	0.042000	0.21073	0.000000	0.08366	0.212000	0.22240	0.0:0.6698:0.0:0.3302	7.495	0.26652	799	0.44747	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1439.06	35	chr1	160750307	.	C	T	1439.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.19;DP=258;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.98;SOR=0.716	GT:AD:DP:GQ:PL	0/1:37,29:66:99:756,0,1030	4	0	2	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	.	.	.	.	.	.	.	.	0.3	202.47	153	chr1	161048864	.	C	G	202.47	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.831;DP=954;ExcessHet=1.383;FS=196.336;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.727;SOR=9.624	GT:AD:DP:GQ:PL	0/1:136,41:189:99:178,0,3001	2	0	3	1
chr1	161053284	161053284	T	C	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon2:c.A107G:p.Q36R,ARHGAP30:NM_001287600:exon5:c.A194G:p.Q65R,ARHGAP30:NM_001025598:exon6:c.A638G:p.Q213R,ARHGAP30:NM_181720:exon6:c.A638G:p.Q213R	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00836040635555	0.0036	0.00139776	0.0053	0.0014	0.0013	0	0.0077	0.0081	0.0045	0.0014	0.004987	771	154602	rs139071778	0.0053	0.0053	0.0054	0.0052	0.0062	0.0052	0.0052	0.0061	0.0060	0.0009	0.0012	7.652e-05	0	0.0070	0.0009	0.0062	0.0044	0.0015	0.0034	0.0034	0.0034	0.0035	0.0052	0.0032	0.0031	0.0047	0.0046	0.0010	0	0.0029	0	0	0.0073	0	0.0052	0.0024	0.0006	0.026	0.65419	D	0.098	0.76473	T	0.011	0.15914	B	0.026	0.20792	B	0.000384	0.44960	N	0.149609	0.939524	0.37264	D	1.445	0.36358	L	2.8	0.35775	T	-2.86	0.60188	D	0.297	0.41952	-1.0954	0.04695	T	0.038	0.16505	T	10	0.010070443	0.00225	T	0.00836	0.22130	T	0.045	0.12272	.	.	0.353352923073	0.34951	0.8469040497389935	0.84651	0.67402453772	0.59623	0.494740366936	0.38097	T	0.21516	0.57695	T	-0.484418	0.00697	T	-0.465023	0.26055	T	0.0339646911433421	0.02631	T	0.690331	0.29972	T	0.29369697	0.52334	0.29911172	0.55944	0.29369697	0.52334	0.29911172	0.55943	-8.984	0.67594	D	.	.	0.080	0.23360	B	.;.;.	.;.;.	2.936607	0.39031	20.9	0.99346743022903772	0.60412	0.89424	0.49880	D	AEFDGBCI	0.555297	0.56579	D	-0.151350550850968	0.35176	2.017255	-0.00616668818482429	0.39435	2.338207	0.999936780902352	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	5.27	4.09	0.47038	3.586000	0.53696	2.334000	0.32213	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1031:0.0:0.8969	8.415	0.31827	551	0.72115	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	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.1667	2032.06	48	chr1	161053284	.	T	C	2032.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.331;DP=371;ExcessHet=0.4139;FS=6.797;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.86;SOR=0.4	GT:AD:DP:GQ:PL	0/1:48,40:88:99:941,0,1283	4	0	2	0
chr1	172585896	172585896	G	A	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282750:exon16:c.G1495A:p.A499T,SUCO:NM_016227:exon16:c.G2059A:p.A687T,SUCO:NM_014283:exon17:c.G1606A:p.A536T	.	435	1077	10	0	0	10	0.00462107	.	.	.	2099718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	0.00193043638133	7.7e-05	0.00179712	0.0012	0	8.643e-05	0	0	0.0001	0	0.0086	0.0010479	162	154602	rs142806667	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0005	0.0073	0.0071	0	0	0	2.532e-05	0	0.0019	3.242e-05	0.0006	0.0078	0.0004	0.0004	0.0002	0.0005	0.0108	0.0003	0.0003	0.0084	0.0076	0	0	0	0	0	0	0	8.824e-05	0.0005	0.0108	0.432	0.49613	T	0.346	0.46406	T	0.079	0.24468	B	0.032	0.22131	B	0.139637	0.18337	N	0.590879	0.980869	0.25081	N	0.665	0.16292	N	.	.	.	0.38	0.10480	N	0.176	0.18920	-1.0713	0.09129	T	0.039	0.16763	T	9	0.0049277544	0.00106	T	0.00193	0.03430	T	0.062	0.17934	.	.	0.244539031024	0.24083	0.08024004455425406	0.07959	0.187617087801	0.21079	0.357427626848	0.19011	T	0.00407	0.40479	T	-0.420183	0.01706	T	-0.372195	0.36632	T	0.0472166095703402	0.05003	T	0.80432	0.46746	T	0.088561244	0.20663	0.07265791	0.15702	0.088561244	0.20662	0.07265791	0.15701	-3.277	0.13442	T	.	.	0.068	0.02797	B	.;.;.;.	.;.;.;.	2.145352	0.27324	17.42	0.99205784317690127	0.55442	0.71238	0.34928	D	AEFBCI	0.131168	0.25000	N	-0.10528492925385	0.37163	2.158112	0.0206025082375364	0.40672	2.431114	0.99998788381876	0.51787	0.75658	0.98901	0	0.743671	0.97443	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.2	4.27	0.50009	1.755000	0.38008	2.459000	0.32846	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1465:0.7016:0.1519	10.379	0.43282	473	0.77910	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001554	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	730.83	33	chr1	172585896	.	G	A	730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.472;DP=244;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.813;SOR=0.663	GT:AD:DP:GQ:PL	0/1:38,33:71:99:741,0,893	5	0	1	0
chr1	176791432	176791432	C	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon19:c.C4970G:p.P1657R	.	430	990	99	3	0	105	0.0503597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0066	0.0101837	0.0138	0.0020	0.0273	0.0001	0.0074	0.0099	0.0122	0.0369	0.0123866	1915	154602	rs34602579	0.0082	0.0082	0.0069	0.0095	0.0386	0.0081	0.0080	0.0375	0.0371	0.0016	0.0228	0.0496	5.041e-05	0.0081	0.0328	0.0044	0.0115	0.0386	0.0079	0.0079	0.0072	0.0085	0.0349	0.0075	0.0073	0.0306	0.0289	0.0024	0.0099	0.0101	0.0498	0.0002	0.0099	0.0171	0.0068	0.0085	0.0349	0.022	0.48642	D	0.112	0.37037	T	0.715	0.42183	P	0.288	0.40614	B	0.000083	0.51296	D	0.130773	0.950107	0.26515	N	2.095	0.58118	M	4.49	0.02049	T	-2.06	0.47175	N	0.413	0.45331	-0.8622	0.51104	T	0.007	0.02399	T	10	0.003267467	0.00056	T	.	.	.	0.093	0.26882	.	.	.	.	0.7269670015442563	0.72640	0.198595925975	0.22241	0.285176694393	0.08225	T	0.24153	0.61007	T	-0.579169	0.00195	T	-0.57685	0.14826	T	0.0218216985432377	0.00889	T	0.50225	0.15758	T	0.059995424	0.12260	0.08987151	0.21042	0.059995424	0.12260	0.08987151	0.21042	-6.562	0.50762	T	.	.	0.077	0.06295	B	.	.	2.220156	0.28336	17.76	0.99272752400622866	0.57627	0.34067	0.24979	N	AEFI	0.189116	0.31638	N	-0.040508235531873	0.40027	2.370191	-0.0519351709435044	0.37406	2.189769	0.012405970498762	0.12323	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	4.48	0.53973	2.696000	0.46719	2.603000	0.33533	0.597000	0.34315	0.022000	0.19841	0.025000	0.21018	0.769000	0.36481	0.3268:0.6732:0.0:0.0	11.376	0.48969	701	0.57775	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.000000	0.016304	0.008772	0.000000	0.017241	0.042683	0.045455	0.08333	1106.83	33	chr1	176791432	.	C	G	1106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.04;DP=251;ExcessHet=0;FS=1.819;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.235;SOR=0.83	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1117,0,807	5	0	1	0
chr1	178853664	178853664	C	A	exonic	ANGPTL1	.	nonsynonymous SNV	ANGPTL1:NM_001376763:exon3:c.G947T:p.G316V,ANGPTL1:NM_004673:exon4:c.G947T:p.G316V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924	0.315673615602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.81	0.95479	H	-2.08	0.86010	D	-8.48	0.97265	D	0.965	0.98268	0.941	0.96258	D	0.874	0.95800	D	10	0.9889517	0.99337	D	0.315674	0.91321	D	0.924	0.98117	0.955	0.99502	0.952958176609	0.95245	0.9136645513164241	0.91341	0.506480053807	0.48849	0.696285843849	0.66607	T	0.491437	0.81580	T	0.45027	0.92493	D	0.409005	0.92400	D	0.999449789524078	0.97429	D	0.992126	0.97507	D	0.91829246	0.93083	0.92068976	0.96447	0.91829246	0.93084	0.92068976	0.96447	-10.57	0.77248	D	.	.	0.842	0.80861	P	.;.	.;.	4.981142	0.82510	27.8	0.99810280041082733	0.89442	0.98882	0.88116	D	AEFBI	0.918359	0.88731	D	1.08310960041763	0.97809	16.808	1.02129871775947	0.98999	20.21106	0.999999999992399	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.07	6.07	0.98675	7.905000	0.86479	5.994000	0.52377	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.239	0.98368	440	0.80101	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1304.83	34	chr1	178853664	.	C	A	1304.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.116;DP=266;ExcessHet=0;FS=0.771;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.498;SOR=0.804	GT:AD:DP:GQ:PL	0/1:40,55:95:99:1315,0,917	5	0	1	0
chr1	182551123	182551123	G	A	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon18:c.G2957A:p.R986H,RGSL1:NM_001366934:exon19:c.G3062A:p.R1021H	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0117285555729	0.0009	0.000399361	0.0014	0	0	0	0	0.0032	0	0.0004	0.0003169	49	154602	rs182399502	0.0006	0.0006	0.0005	0.0006	0.0165	0.0006	0.0005	0.0138	0.0128	0.0002	0.0011	0.0122	0	0	0.0165	0.0002	0.0014	0.0004	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0006	0.0005	4.811e-05	0	0.0010	0.0138	0	0	0.0272	0.0005	0.0019	0.0002	0.106	0.29688	T	0.008	0.67890	D	0.27	0.31762	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.85	0.24472	T	-1.19	0.30346	N	0.075	0.04913	.	.	.	.	.	.	.	0.0045185685	0.00093	T	0.011729	0.29644	T	.	.	.	.	0.0884992946249	0.08302	0.15745488202864302	0.15666	.	.	0.197746396065	0.00394	T	0.005563	0.05012	T	-0.55625	0.00267	T	-0.633785	0.10130	T	.	.	.	0.50295	0.15803	T	0.02917472	0.02370	0.038722366	0.03805	0.02917472	0.02370	0.038722366	0.03804	-1.357	0.01496	T	.	.	0.081	0.08129	B	.	.	0.014488	0.04385	1.132	0.90745433001771636	0.19995	0.01856	0.05735	N	AEFBHCI	0.014699	0.00246	N	.	.	.	.	.	.	3.1799352647016E-4	0.06498	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.68	-2.24	0.06518	-1.438000	0.02523	-1.338000	0.05679	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.5079:0.1629:0.3292:0.0	4.975	0.13484	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014223	0.005319	0.017857	0.029915	0.083333	0.000000	0.005208	0.000000	0.08333	974.83	34	chr1	182551123	.	G	A	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=244;ExcessHet=0;FS=3.363;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-1.521;SOR=1.132	GT:AD:DP:GQ:PL	0/1:30,35:65:99:985,0,704	5	0	1	0
chr1	185181964	185181964	C	T	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon7:c.C1045T:p.L349F,SWT1:NM_017673:exon7:c.C1045T:p.L349F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0128921527203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.000000	0.899744	0.36143	D	2.28	0.64929	M	1.28	0.35960	T	-2.19	0.49352	N	0.497	0.53620	-0.8454	0.52284	T	0.141	0.46183	T	10	0.36653662	0.53146	T	0.012892	0.31852	T	0.139	0.37390	0.3	0.26683	0.579890812634	0.57659	0.4388643738463488	0.43803	0.64846266349	0.58195	0.668325304985	0.62599	T	0.139142	0.47301	T	-0.0472299	0.44868	T	-0.305619	0.44127	T	0.954114615917206	0.64187	D	0.914109	0.69400	D	0.28956687	0.51952	0.24229378	0.49646	0.28956687	0.51952	0.24229378	0.49645	-10.017	0.74014	D	.	.	0.703	0.73078	P	.;.	.;.	4.859298	0.79503	27.1	0.99906513698964627	0.97726	0.68216	0.33718	D	AEFI	0.117897	0.23076	N	0.552752994831467	0.70252	5.474019	0.585626947852786	0.73907	6.048133	0.0846083622799005	0.15960	0.651	0.46895	0	0.588015	0.36545	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	2.082000	0.41230	7.699000	0.66186	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9131:0.0:0.0869	11.765	0.51193	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	75.0	63	chr1	185181964	.	C	T	75.0	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.075;DP=374;ExcessHet=0;FS=100.848;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.65;SOR=7.222	GT:AD:DP:GQ:PL	0/1:43,26:79:84:84,0,584	4	0	1	1
chr1	200666230	200666230	G	A	exonic	DDX59	.	nonsynonymous SNV	DDX59:NM_001320182:exon1:c.C511T:p.H171Y,DDX59:NM_001031725:exon2:c.C511T:p.H171Y,DDX59:NM_001320181:exon2:c.C511T:p.H171Y,DDX59:NM_001349799:exon2:c.C511T:p.H171Y,DDX59:NM_001349800:exon2:c.C511T:p.H171Y,DDX59:NM_001349801:exon2:c.C511T:p.H171Y,DDX59:NM_001349802:exon2:c.C511T:p.H171Y,DDX59:NM_001349803:exon2:c.C511T:p.H171Y,DDX59:NM_001349804:exon2:c.C511T:p.H171Y	Orofaciodigital syndrome V, Autosomal recessive	433	1081	8	0	0	8	0.00368664	.	.	.	1385157	not_provided|Orofaciodigital_syndrome_V	MedGen:C3661900|MONDO:MONDO:0008267,MedGen:C1868118,OMIM:174300,Orphanet:2919	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0127233606135	0.0015	0.000998403	0.0009	0.0004	0.0003	0	0	0.0015	0.0011	6.056e-05	0.0010155	157	154602	rs149530427	0.0017	0.0017	0.0018	0.0017	0.0022	0.0017	0.0017	0.0021	0.0021	0.0003	0.0003	0.0004	0	5.616e-05	0.0012	0.0022	0.0014	1.159e-05	0.0010	0.0010	0.0013	0.0007	0.0018	0.0009	0.0008	0.0015	0.0015	0.0005	0	0.0005	0	0	0	0.0034	0.0018	0.0014	0	0.045	0.49117	D	0.036	0.54541	D	0.966	0.56202	D	0.642	0.52168	P	0.000000	0.84330	D	0.045990	0.997937	0.44335	D	3.63	0.94006	H	1.43	0.32958	T	-2.67	0.57110	D	0.495	0.52829	-0.7261	0.59159	T	0.179	0.52520	T	10	0.017672539	0.00379	T	0.012723	0.31538	T	0.165	0.42395	.	.	0.674889208036	0.67213	0.5418686269201746	0.54111	0.71948820848	0.62137	0.441221684217	0.30744	T	0.168226	0.51516	T	-0.356574	0.04327	T	-0.291138	0.45655	T	0.150108650326729	0.17113	T	0.89681	0.63970	D	0.36595932	0.58285	0.39060333	0.63851	0.36595932	0.58286	0.39060333	0.63851	-12.62	0.87739	D	0.39799706392547096	0.49023	0.258	0.49275	B	.;.	.;.	4.579592	0.72335	25.8	0.99727461510852899	0.82477	0.94303	0.60737	D	AEFDBIJ	0.616449	0.60301	D	0.707084274307901	0.80096	7.219414	0.682222085319825	0.81031	7.432364	0.999999984786295	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.654926	0.60358	0	.	.	5.33	5.33	0.75683	4.852000	0.62602	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.8549:0.145	14.768	0.69278	684	0.59539	.;.	.	.	.	.	.	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	1300.83	44	chr1	200666230	.	G	A	1300.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.496;DP=295;ExcessHet=0;FS=5.833;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-2.76;SOR=0.646	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1311,0,1795	5	0	1	0
chr1	201386508	201386508	T	C	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.A853G:p.T285A	.	416	1091	15	0	0	15	0.00682749	.	.	.	4020796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00215725915153	.	0.000998403	0.0034	0.0003	0.0019	0	0.0002	0.0055	0.0050	0.0004	0.0030595	473	154602	rs199579589	0.0031	0.0031	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0005	0.0029	0.0018	2.529e-05	0.0002	0.0068	0.0036	0.0029	0.0007	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0041	0.0040	0.0005	0	0.0041	0.0017	0	0.0003	0.0068	0.0046	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	0.023539	0.01594	N	2.147060	1	0.08975	N	-0.49	0.02651	N	2.87	0.10386	T	0.31	0.04022	N	0.047	0.01911	-0.9386	0.42837	T	0.007	0.02558	T	10	0.0033936203	0.00059	T	0.002157	0.04043	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06471795420376389	0.06410	0.101017976049	0.11413	0.271386504173	0.06323	T	0.030787	0.21738	T	-0.766274	0.00014	T	-0.872109	0.00723	T	0.000960221312585339	0.00009	T	0.336666	0.07200	T	0.014417047	0.00092	0.017198384	0.00027	0.014417047	0.00092	0.017198384	0.00027	-2.898	0.09123	T	.	.	0.059	0.00754	B	.;.	.;.	-0.565584	0.01668	0.119	0.17251376477950772	0.00495	0.00580	0.02616	N	AEFBCI	0.030474	0.03075	N	-1.58242822399693	0.01355	0.05902909	-1.49155796214791	0.02413	0.1109366	0.999631973349128	0.41205	0.732398	0.92422	0	0.626922	0.53725	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.47	-1.09	0.09397	-0.913000	0.04150	-1.896000	0.04535	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2428:0.3668:0.0:0.3904	3.288	0.06532	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	1	0	0.009567	0.010101	0.006793	0.020468	0.000000	0.000000	0.018293	0.000000	0.08333	1061.83	61	chr1	201386508	.	T	C	1061.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.584;DP=277;ExcessHet=0;FS=0.888;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.251;SOR=0.862	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1072,0,821	5	0	1	0
chr1	201387170	201387170	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.G191A:p.S64N	.	416	1094	12	0	0	12	0.00545455	.	.	.	696381	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.126	0.010655477065	0.0011	0.00199681	0.0019	0	0.0013	0	0.0002	0.0024	0.0013	0.0042	0.0018111	280	154602	rs143280381	0.0013	0.0013	0.0012	0.0014	0.0095	0.0012	0.0012	0.0074	0.0066	0.0002	0.0016	0.0135	0	0.0002	0.0095	0.0009	0.0022	0.0030	0.0012	0.0012	0.0012	0.0013	0.0033	0.0011	0.0010	0.0021	0.0017	0.0002	0	0.0005	0.0153	0	0.0002	0	0.0015	0.0009	0.0033	0.0	0.91255	D	0.031	0.70582	D	0.999	0.77913	D	0.982	0.84481	D	0.001107	0.40219	N	0.235599	0.908114	0.36340	D	2.54	0.74080	M	2.33	0.16794	T	-2.2	0.50337	N	0.325	0.36569	-0.8954	0.48446	T	0.106	0.38587	T	10	0.006062001	0.00136	T	0.010655	0.27430	T	0.126	0.34673	.	.	0.104622674875	0.10061	0.039214810868750394	0.03867	0.497447347806	0.48245	0.466643422842	0.34221	T	0.208963	0.56904	T	-0.527928	0.00395	T	-0.531389	0.19147	T	0.135137468576431	0.15849	T	0.740126	0.37414	T	0.27455127	0.50520	0.28137487	0.54119	0.27455127	0.50520	0.28137487	0.54118	-6.291	0.48650	T	.	.	0.273	0.63329	B	.;.;.;.;.	.;.;.;.;.	2.640700	0.34361	19.61	0.99229407829368932	0.56183	0.34538	0.25091	N	AEFDBI	0.158150	0.28376	N	0.171522803344348	0.49836	3.179601	0.00945469408973119	0.40153	2.391793	0.999999912274535	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.91	4.91	0.63897	3.074000	0.49763	2.128000	0.30762	0.545000	0.25583	0.417000	0.26305	0.944000	0.28851	0.031000	0.13245	0.0:1.0:0.0:0.0	13.593	0.61435	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.010101	0.006812	0.005848	0.000000	0.008621	0.015244	0.000000	0.08333	1354.83	35	chr1	201387170	.	C	T	1354.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.551;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.92;ReadPosRankSum=1.1;SOR=0.608	GT:AD:DP:GQ:PL	0/1:25,43:68:99:1365,0,609	5	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	804.23	124	chr1	204444146	.	C	T	804.23	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.728;DP=580;ExcessHet=3.1439;FS=238.355;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=0.03;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,38:136:99:.:.:317,0,2435:.	3	0	3	0
chr1	205083905	205083905	T	C	exonic	TMEM81	.	nonsynonymous SNV	TMEM81:NM_203376:exon1:c.A416G:p.Q139R	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00539521926482	.	.	7.423e-05	0	0	0	0	0.0001	0	0.0001	5.82e-05	9	154602	rs779975278	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	1.079e-05	1.656e-05	4.637e-05	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.321485	0.14263	N	0.652848	1	0.08975	N	-1.31	0.00704	N	1.0	0.41392	T	1.59	0.00660	N	0.026	0.00527	-0.9814	0.34678	T	0.027	0.11397	T	10	0.018339664	0.00398	T	0.005395	0.13832	T	0.025	0.05312	.	.	0.0920862733494	0.08535	0.39444788521391083	0.39359	0.073276802317	0.08217	0.226664185524	0.01730	T	8.36E-4	0.00412	T	-0.510015	0.00502	T	-0.784474	0.02321	T	0.0232352760271827	0.01051	T	0.184182	0.01901	T	0.03307637	0.03456	0.03764666	0.03462	0.03307637	0.03455	0.03764666	0.03462	-3.054	0.10775	T	.	.	0.053	0.00280	B	.	.	-0.570358	0.01654	0.117	0.39182233125699495	0.02688	0.01215	0.04316	N	AEFBCI	0.022989	0.01221	N	-1.56111895605708	0.01471	0.06419813	-1.43006566540754	0.02955	0.1369708	0.00253450207181775	0.09511	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	0.765	0.17616	-0.342000	0.07848	-0.872000	0.07099	-0.909000	0.02273	0.001000	0.13787	0.000000	0.08366	0.080000	0.17246	0.118:0.551:0.0:0.331	5.812	0.17734	365	0.84644	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	.	.	.	.	.	.	.	.	0.08333	1366.83	33	chr1	205083905	.	T	C	1366.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.74;DP=446;ExcessHet=0;FS=0.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.856;SOR=0.78	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1377,0,1863	5	0	1	0
chr1	206392831	206392831	C	T	exonic	SRGAP2	.	nonsynonymous SNV	SRGAP2:NM_001170637:exon6:c.C629T:p.T210M,SRGAP2:NM_001300952:exon6:c.C629T:p.T210M,SRGAP2:NM_001377444:exon6:c.C629T:p.T210M,SRGAP2:NM_001377445:exon6:c.C629T:p.T210M,SRGAP2:NM_001377446:exon6:c.C629T:p.T210M,SRGAP2:NM_001377447:exon6:c.C629T:p.T210M,SRGAP2:NM_015326:exon6:c.C629T:p.T210M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	.	.	.	0.0005	0.0005	0.0003	0.0013	0.0002	0.0004	0	0.0009	0.0001921	5	26028	rs371626449	8.232e-05	8.588e-05	9.515e-05	7.137e-05	0.0003	6.34e-05	5.68e-05	8.329e-05	7.3e-05	0	2.854e-05	0	0	2.027e-05	0.0003	0.0001	0.0002	4.752e-05	4.943e-05	5.954e-05	6.845e-05	2.916e-05	9.26e-05	2.251e-05	1.618e-05	4.019e-05	2.678e-05	0	0	7.108e-05	0	0	0	0	9.26e-05	0	0	.	.	.	0.122	0.35710	T	0.003	0.11197	B	0.004	0.10090	B	0.018567	0.27453	N	0.403597	.	.	.	.	.	.	1.96	0.22270	T	.	.	.	0.281	0.34874	-0.9224	0.45224	T	0.094	0.35658	T	8	0.03816256	0.02217	T	.	.	.	.	.	.	.	0.352262096564	0.34836	0.26672969301912935	0.26585	.	.	0.476037234068	0.35512	T	0.007652	0.30964	T	0.107812	0.65123	D	-0.0829114	0.64691	T	0.111351639032364	0.13563	T	0.978002	0.92190	D	0.09106372	0.21327	0.14197339	0.33792	0.09106372	0.21327	0.14197339	0.33791	-4.67	0.33039	T	.	.	0.075	0.07937	B	.;.;.;.	.;.;.;.	3.883397	0.56458	23.7	0.9795686270754167	0.37143	0.20785	0.21168	N	AEFGBI	0.197335	0.32426	N	-0.167478828071905	0.34494	1.969521	-0.0951169626374262	0.35591	2.060974	0.999999980098811	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	3.111000	0.50053	7.663000	0.64347	0.594000	0.32500	0.067000	0.21986	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.085	0.93183	.	.	F-BAR domain;F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	442.83	30	chr1	206392831	.	C	T	442.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=158;ExcessHet=0;FS=9.232;MLEAC=1;MLEAF=0.083;MQ=31;MQRankSum=-0.811;QD=14.76;ReadPosRankSum=1.01;SOR=0.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,17:30:99:0|1:206392831_C_T:453,0,337:206392831	5	0	1	0
chr1	206732596	206732596	G	T	exonic	MAPKAPK2	.	nonsynonymous SNV	MAPKAPK2:NM_032960:exon10:c.G1081T:p.A361S	.	408	1088	23	3	0	29	0.0131519	.	.	.	2816010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.235	0.0107832580715	0.0009	0.000798722	0.0021	0	0.0022	0	0	0.0027	0.0077	0.0025	0.0019534	302	154602	rs55894011	0.0014	0.0014	0.0013	0.0016	0.0252	0.0014	0.0014	0.0219	0.0206	0.0006	0.0031	0.0092	0	1.872e-05	0.0252	0.0010	0.0030	0.0028	0.0016	0.0016	0.0016	0.0017	0.0039	0.0015	0.0014	0.0031	0.0028	0.0002	0.0055	0.0039	0.0081	0	0	0.0238	0.0018	0.0038	0.0025	0.073	0.34800	T	0.03	0.54159	D	0.102	0.25827	B	0.183	0.35961	B	.	.	.	.	1	0.81001	D	2.535	0.73915	M	0.83	0.47815	T	-2.69	0.57435	D	0.664	0.67304	-0.9016	0.47824	T	0.169	0.50890	T	9	0.011110544	0.00244	T	0.010783	0.27705	T	0.235	0.53788	.	.	0.691149095016	0.68849	0.4102939804632537	0.40945	1.30424677293	0.83088	0.840001881123	0.88095	D	0.240113	0.60838	T	-0.315836	0.07244	T	-0.231069	0.51669	T	0.0808803812905361	0.10100	T	0.955704	0.83186	D	0.37245694	0.58766	0.2993112	0.55965	0.37245694	0.58766	0.2993112	0.55964	-7.688	0.58924	D	.	.	0.452	0.62326	A	.	.	4.793734	0.77818	26.8	0.99511064463149201	0.68618	0.99585	0.97709	D	AEFDBI	0.934855	0.92885	D	0.311857058301308	0.56756	3.840936	0.456127409313182	0.65112	4.782671	0.999999999999759	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	10.003000	0.99689	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.857	0.88678	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	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	0.027694	0.005051	0.046196	0.035088	0.050000	0.034483	0.006098	0.015152	0.08333	1534.83	46	chr1	206732596	.	G	T	1534.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.004;DP=297;ExcessHet=0;FS=3.538;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-1.068;SOR=1.033	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1545,0,1412	5	0	1	0
chr1	206959690	206959690	C	T	exonic	FCAMR	.	nonsynonymous SNV	FCAMR:NM_032029:exon6:c.G760A:p.E254K,FCAMR:NM_001122979:exon7:c.G760A:p.E254K,FCAMR:NM_001170631:exon7:c.G1562A:p.R521K	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00872402999529	0.0003	0.000599042	0.0007	0.0002	0.0018	0	0	0.0008	0.0022	0.0001	0.0005821	90	154602	rs201047919	0.0005	0.0005	0.0005	0.0005	0.0043	0.0005	0.0005	0.0030	0.0026	0.0003	0.0018	0.0005	0	3.745e-05	0.0043	0.0005	0.0009	8.116e-05	0.0005	0.0005	0.0006	0.0005	0.0015	0.0004	0.0004	0.0010	0.0009	7.221e-05	0	0.0015	0.0003	0	0	0.0034	0.0006	0.0043	0.0002	0.024	0.47745	D	0.41	0.14544	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-0.95	0.25332	N	0.283	0.32037	-0.9573	0.39681	T	0.015	0.05994	T	8	0.0065068603	0.00147	T	0.008724	0.23025	T	0.021	0.04004	.	.	0.223847106136	0.22009	0.1643202246948084	0.16352	0.315285447066	0.33810	0.300758123398	0.10514	T	0.023093	0.17691	T	-0.592949	0.00161	T	-0.654586	0.08636	T	0.0115433922356172	0.00174	T	0.273273	0.04638	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27968	B	.	.	0.815910	0.11871	8.436	0.93153083599657505	0.22802	0.07158	0.13183	N	AEFBI	0.068740	0.13573	N	-0.747240598634769	0.14708	0.7349722	-0.808734365506464	0.14284	0.7455601	0.943583330058021	0.27576	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.73	1.8	0.24069	0.186000	0.16787	0.039000	0.13841	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1866:0.6171:0.0:0.1963	4.045	0.09251	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.010101	0.010870	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	677.83	37	chr1	206959690	.	C	T	677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.453;DP=260;ExcessHet=0;FS=0.865;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.233;SOR=0.578	GT:AD:DP:GQ:PL	0/1:57,29:86:99:688,0,1522	5	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	173.87	91	chr1	212100360	.	A	G	173.87	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.325;DP=527;ExcessHet=3.1439;FS=175.263;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,15:110:96:0|1:212100360_A_G:96,0,3555:212100360	2	0	4	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	363.17	83	chr1	212100361	.	C	G	363.17	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-3.042;DP=504;ExcessHet=3.1439;FS=183.176;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=1.97;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,15:110:96:0|1:212100360_A_G:96,0,3555:212100360	0	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	355.89	85	chr1	212100362	.	C	G	355.89	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.123;DP=516;ExcessHet=3.1439;FS=183.176;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=2.19;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,15:110:96:0|1:212100360_A_G:96,0,3555:212100360	2	0	4	0
chr1	213129835	213129835	G	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001136138:exon5:c.G745A:p.A249T,RPS6KC1:NM_001287221:exon5:c.G238A:p.A80T,RPS6KC1:NM_001349646:exon6:c.G781A:p.A261T,RPS6KC1:NM_012424:exon6:c.G781A:p.A261T,RPS6KC1:NM_001287218:exon7:c.G238A:p.A80T,RPS6KC1:NM_001287219:exon7:c.G238A:p.A80T,RPS6KC1:NM_001349648:exon7:c.G238A:p.A80T,RPS6KC1:NM_001349649:exon7:c.G238A:p.A80T,RPS6KC1:NM_001349653:exon7:c.G238A:p.A80T,RPS6KC1:NM_001349650:exon8:c.G238A:p.A80T,RPS6KC1:NM_001349652:exon8:c.G238A:p.A80T,RPS6KC1:NM_001349654:exon8:c.G238A:p.A80T,RPS6KC1:NM_001349651:exon9:c.G238A:p.A80T	.	430	1077	15	0	0	15	0.00691563	.	.	.	1066738	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0222216880896	0.0015	0.00119808	0.0012	0.0002	0.0007	0	0.0002	0.0014	0.0033	0.0021	0.001119	173	154602	rs147945661	0.0015	0.0015	0.0014	0.0016	0.0164	0.0015	0.0014	0.0137	0.0127	0.0012	0.0013	0.0008	0	0.0002	0.0164	0.0015	0.0020	0.0023	0.0011	0.0011	0.0011	0.0012	0.0025	0.0010	0.0010	0.0014	0.0013	0.0003	0	0.0018	0.0009	0	0.0006	0	0.0016	0.0005	0.0025	0.109	0.29288	T	0.105	0.38016	T	0.58	0.38813	P	0.098	0.34210	B	0.000004	0.62929	D	0.061479	0.985479	0.81001	D	2.195	0.61839	M	-0.61	0.71779	T	-2.1	0.51157	N	0.248	0.36464	-0.7871	0.55898	T	0.189	0.54064	T	10	0.012542695	0.00269	T	0.022222	0.45086	T	0.102	0.29158	.	.	0.748983866323	0.74672	0.12353733367379002	0.12279	0.149293114294	0.16836	0.398760795593	0.24896	T	0.081853	0.36694	T	-0.367592	0.03718	T	-0.306345	0.44051	T	0.0202358216047287	0.00723	T	0.877312	0.59062	D	0.13537733	0.31420	0.2021305	0.44226	0.13148084	0.30645	0.23356181	0.48547	-7.872	0.60194	D	.	.	0.093	0.22717	B	.;.;.;.;.	.;.;.;.;.	3.192312	0.43374	21.7	0.99751178859942069	0.84305	0.89310	0.49697	D	AEFBI	0.223166	0.34756	N	0.113338170110566	0.47084	2.939161	0.266390792853388	0.53586	3.526939	0.998890240643501	0.37915	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	2.626000	0.46126	9.945000	0.82685	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0832:0.0:0.7599:0.1568	8.278	0.31043	814	0.42100	MIT|MIT;MIT|MIT;MIT|MIT;MIT|MIT;.	.	.	.	.	.	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	0.018127	0.010101	0.019022	0.043860	0.000000	0.025862	0.009146	0.007576	0.08333	993.83	33	chr1	213129835	.	G	A	993.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.23;DP=244;ExcessHet=0;FS=2.006;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.053;SOR=0.992	GT:AD:DP:GQ:PL	0/1:31,39:70:99:1004,0,845	5	0	1	0
chr1	222538766	222538766	G	T	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon5:c.C1459A:p.L487M	.	422	1089	11	0	0	11	0.00502513	.	.	.	718673	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.230	.	0.0044	0.00239617	0.0040	0.0010	0.0014	0	0.0109	0.0053	0.0110	0.0012	0.0041203	637	154602	rs116359984	0.0053	0.0053	0.0053	0.0053	0.0060	0.0052	0.0051	0.0059	0.0058	0.0010	0.0021	0.0004	0	0.0102	0.0036	0.0060	0.0038	0.0014	0.0046	0.0046	0.0044	0.0048	0.0060	0.0043	0.0042	0.0055	0.0053	0.0010	0.0022	0.0059	0.0012	0	0.0123	0.0034	0.0060	0.0085	0.0010	0.044	0.41096	D	0.086	0.40909	T	1.0	0.90584	D	0.998	0.88582	D	0.000570	0.43250	D	0.153343	0.992857	0.41762	D	2.335	0.66956	M	2.56	0.13673	T	-1.55	0.37566	N	0.433	0.47208	-1.1730	0.00484	T	0.048	0.20434	T	10	0.014419138	0.00303	T	.	.	.	0.230	0.53062	.	.	0.197625483188	0.19356	0.4017266481056992	0.40088	0.68760950996	0.60391	0.620371103287	0.55782	T	0.00331	0.02718	T	-0.452145	0.01097	T	-0.419223	0.31164	T	0.02550971537922	0.01340	T	0.921108	0.71398	D	0.39438424	0.60342	0.2511849	0.50724	0.39438424	0.60342	0.2511849	0.50723	-9.805	0.72736	D	.	.	0.152	0.33619	B	.	.	4.089281	0.60890	24.3	0.99645716448364385	0.76943	0.98642	0.85044	D	AEFBI	0.826831	0.74624	D	0.569552629591111	0.71279	5.627006	0.543441570618771	0.70943	5.580067	0.120778704780486	0.16876	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	4.43	0.52967	6.394000	0.73153	4.951000	0.46281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.1591:0.0:0.8409:0.0	9.525	0.38325	904	0.23766	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	Likely benign	0	0	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	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.003788	0.1667	1678.06	35	chr1	222538766	.	G	T	1678.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.72;DP=274;ExcessHet=0.4139;FS=1.408;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.905;SOR=0.547	GT:AD:DP:GQ:PL	0/1:35,35:70:99:917,0,940	4	0	2	0
chr1	228372616	228372616	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon94:c.G21838A:p.V7280M,OBSCN:NM_001271223:exon105:c.G24709A:p.V8237M	.	.	.	.	.	.	.	.	.	.	.	2816190	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.223	0.150374910596	0.0011	.	0.0024	0.0003	0	0	0	0.0049	0	0	0.0008085	125	154602	rs201098610	0.0010	0.0010	0.0010	0.0010	0.0006	0.0010	0.0010	0.0006	0.0006	0.0002	0.0001	0.0259	0	0	0.0005	0.0006	0.0018	2.451e-05	0.0008	0.0008	0.0008	0.0007	0.0004	0.0007	0.0006	0.0003	0.0002	0.0001	0	6.541e-05	0.0242	0	0	0.0032	0.0004	0.0010	0	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	0.944895	0.27492	N	2.005	0.54552	M	-0.8	0.73845	T	-1.68	0.40082	N	0.259	0.29313	-0.0605	0.80982	T	0.447	0.78294	T	9	0.0067518055	0.00153	T	0.150375	0.83206	D	0.245	0.55201	.	.	0.717077514744	0.71459	0.13334576674131576	0.13258	0.430256033579	0.43280	0.726939201355	0.71059	T	0.040821	0.25655	T	-0.314523	0.07355	T	-0.2651	0.48313	T	0.0485368919579446	0.05239	T	0.888311	0.61778	D	0.21319266	0.43691	0.3029213	0.56323	0.20494328	0.42621	0.29029453	0.55051	-5.77	0.44312	T	.	.	0.527	0.65771	A	.;.;.;.	.;.;.;.	2.492388	0.32161	18.96	0.96378647059859324	0.29610	0.95749	0.65991	D	AEFDBCI	0.727936	0.67612	D	0.466239914903242	0.65131	4.783976	0.44231509970818	0.64224	4.672842	0.999999999989652	0.74766	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.553173	0.17726	1	.	.	5.31	5.31	0.75063	2.813000	0.47701	6.600000	0.56053	0.618000	0.50648	0.947000	0.32937	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.153	0.86662	428	0.80967	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	4400.06	47	chr1	228372616	.	G	A	4400.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.739;DP=533;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.481;SOR=0.674	GT:AD:DP:GQ:PL	0/1:99,98:197:99:2579,0,2676	4	0	2	0
chr1	229487612	229487612	G	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon10:c.C1196T:p.S399F	.	454	1066	2	0	0	2	0.000937207	0.9767	0.78	.	1566502	NUP133-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.140	.	0.0032	0.00359425	0.0032	0.0007	0.0036	0	0.0042	0.0041	0.0011	0.0026	0.00326	504	154602	rs148628311	0.0038	0.0039	0.0038	0.0038	0.0042	0.0037	0.0037	0.0040	0.0039	0.0005	0.0042	0.0064	0	0.0036	0.0007	0.0041	0.0035	0.0028	0.0032	0.0032	0.0032	0.0031	0.0043	0.0029	0.0028	0.0039	0.0038	0.0008	0.0461	0.0027	0.0058	0	0.0025	0	0.0043	0.0038	0.0029	0.006	0.61437	D	0.011	0.64786	D	0.939	0.52645	P	0.694	0.53938	P	0.001103	0.40219	N	0.322537	0.999976	0.53665	D	2.545	0.74286	M	1.79	0.25509	T	-2.99	0.62151	D	0.584	0.60495	-1.0642	0.10736	T	0.077	0.30676	T	10	0.01160112	0.00253	T	.	.	.	0.140	0.37593	.	.	0.492611691308	0.48895	0.4988645506664313	0.49807	0.339956898807	0.35944	0.485323280096	0.36791	T	0.611824	0.87709	D	-0.404522	0.02162	T	-0.35234	0.38936	T	0.0178107234183086	0.00510	T	0.910909	0.68443	D	0.45119572	0.64116	0.28766996	0.54779	0.45119572	0.64117	0.28766996	0.54779	-7.327	0.56387	T	.	.	0.221	0.45174	B	.	.	5.002757	0.83020	27.9	0.99824543278967448	0.90677	0.97985	0.78645	D	AEFBI	0.482232	0.52319	N	0.540656970622372	0.69516	5.367897	0.533782089713276	0.70276	5.481666	0.083497817527412	0.15930	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.07	4.09	0.47038	3.249000	0.51138	7.196000	0.57786	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1547:0.8453:0.0	13.649	0.61770	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.015306	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1252.06	33	chr1	229487612	.	G	A	1252.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.36;DP=208;ExcessHet=0.4139;FS=0.854;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.027;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,21:41:99:0|1:229487591_T_C:818,0,777:229487591	4	0	2	0
chr1	230997240	230997240	A	G	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_022786:exon5:c.A793G:p.I265V,ARV1:NM_001346992:exon6:c.A892G:p.I298V	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00656653543555	7.7e-05	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.94e-05	3	154602	rs368530211	1.915e-05	1.915e-05	2.042e-05	1.788e-05	0.0002	1.328e-05	1.144e-05	1.46e-05	1.227e-05	0	2.236e-05	0	0	0	0.0002	2.158e-05	3.312e-05	0	6.572e-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	0.292	0.14894	T	0.767	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	0.715507	0.06283	N	1.167520	1	0.08975	N	0.805	0.20218	L	2.67	0.12473	T	-0.07	0.08033	N	0.131	0.12627	-0.9627	0.38664	T	0.015	0.06138	T	9	0.05089426	0.04889	T	0.006567	0.17329	T	0.032	0.07718	.	.	0.167679373172	0.16340	0.14958560340803356	0.14880	0.136564958709	0.15401	0.318382501602	0.13175	T	0.08414	0.39900	T	-0.33159	0.05992	T	-0.650436	0.08924	T	0.0222954741157106	0.00942	T	0.608739	0.23025	T	0.013184699	0.00052	0.025145413	0.00549	0.013184699	0.00052	0.025145413	0.00549	-3.751	0.20074	T	.	.	0.064	0.02012	B	.;.	.;.	0.520217	0.08890	5.670	0.47840382115003743	0.03944	0.04544	0.10180	N	AEFBI	0.080805	0.16343	N	-1.2428298816188	0.04394	0.1982463	-1.32778453913946	0.04074	0.1914437	0.627942697173268	0.21943	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	-6.75	0.01575	-0.311000	0.08164	1.413000	0.26297	0.754000	0.88378	0.117000	0.23121	0.659000	0.26006	0.599000	0.31363	0.1819:0.1229:0.3336:0.3616	1.545	0.02409	791	0.46100	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1255.83	33	chr1	230997240	.	A	G	1255.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.196;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=2.17;SOR=0.665	GT:AD:DP:GQ:PL	0/1:78,57:135:99:1266,0,1984	5	0	1	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	404.03	47	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	404.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.21;DP=481;ExcessHet=0.4139;FS=7.79;MLEAC=2;MLEAF=0.167;MQ=59.54;MQRankSum=0.568;QD=4.59;ReadPosRankSum=0.618;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,17:76:99:0|1:240207634_G_C:275,0,2443:240207634	4	0	2	0
chr1	246764265	246764265	C	T	exonic	SCCPDH	.	nonsynonymous SNV	SCCPDH:NM_016002:exon10:c.C1010T:p.T337M	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0479469666113	.	0.000998403	0.0009	0.0002	0	0	0	2.999e-05	0	0.0063	0.0007438	115	154602	rs555590305	0.0004	0.0004	0.0002	0.0006	0.0059	0.0003	0.0003	0.0055	0.0053	5.979e-05	0	0	0	0	0.0017	9.899e-06	0.0003	0.0059	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	9.696e-05	0.0034	0.0029	0	0	0	0	0	0	0	1.47e-05	0	0.0050	0.022	0.48642	D	0.017	0.60337	D	0.942	0.52977	P	0.714	0.54635	P	0.000003	0.62929	D	0.139972	0.997624	0.44045	D	2.545	0.74286	M	1.02	0.40749	T	-2.45	0.53577	N	0.496	0.52918	-0.6943	0.60707	T	0.220	0.58306	T	10	0.016170532	0.00340	T	0.047947	0.63152	D	0.220	0.51569	0.449	0.50957	0.709706758388	0.70717	0.6541728864691406	0.65353	0.565556334051	0.52891	0.489663898945	0.37391	T	0.390574	0.75072	T	-0.373786	0.03407	T	-0.306804	0.44002	T	0.127215882653181	0.15122	T	0.767423	0.39577	T	0.04823212	0.08373	0.06935805	0.14604	0.04823212	0.08373	0.06935805	0.14604	-7.142	0.55064	T	.	.	0.148	0.32756	B	.	.	3.855400	0.55878	23.7	0.99847760079353287	0.92750	0.93774	0.59152	D	AEFBI	0.619199	0.60472	D	0.516749143506719	0.68079	5.168207	0.472382858675466	0.66167	4.916874	0.933162161965618	0.27117	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	2.577000	0.45707	2.749000	0.34521	0.599000	0.40250	0.985000	0.35982	0.994000	0.32194	0.008000	0.08271	0.0:0.929:0.0:0.071	14.366	0.66366	776	0.48302	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.1667	1778.06	33	chr1	246764265	.	C	T	1778.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.49;DP=262;ExcessHet=0.4139;FS=1.477;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.63;SOR=0.841	GT:AD:DP:GQ:PL	0/1:27,24:51:99:562,0,630	4	0	2	0
chr1	248626521	248626521	A	C	exonic	OR2T11	.	nonsynonymous SNV	OR2T11:NM_001001964:exon1:c.T608G:p.M203R	.	450	1054	16	2	0	20	0.0093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0065	0.00439297	0.0068	0.0011	0.0011	0	0.0019	0.0081	0.0057	0.0143	0.006727	1040	154602	rs75010552	0.0080	0.0080	0.0078	0.0082	0.0130	0.0079	0.0078	0.0124	0.0121	0.0011	0.0014	0.0112	0	0.0031	0.0062	0.0086	0.0069	0.0130	0.0053	0.0054	0.0054	0.0051	0.0110	0.0050	0.0048	0.0086	0.0078	0.0015	0	0.0014	0.0076	0	0.0021	0.0034	0.0086	0.0064	0.0110	.	.	.	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.001684	0.38271	N	0.117293	1	0.08975	N	1.675	0.43121	L	.	.	.	.	.	.	.	.	-0.9871	0.33323	T	0.001	0.00348	T	10	0.007418275	0.00169	T	.	.	.	.	.	.	.	.	.	0.6370600075305525	0.63640	.	.	0.215478181839	0.01065	T	0.014411	0.12276	T	-0.429423	0.01494	T	-0.384485	0.35196	T	0.0921185967970797	0.11467	T	0.710429	0.32156	T	0.7011599	0.78120	0.6567196	0.79899	0.7011599	0.78121	0.6567196	0.79899	-13.632	0.91800	D	.	.	0.188	0.40506	B	.;.	.;.	3.807132	0.54888	23.5	0.97186750377559405	0.32749	0.13359	0.17811	N	AEFGBI	0.076973	0.15498	N	0.0749656430763498	0.45297	2.788596	-0.0880940765303263	0.35882	2.081206	4.07668547973455E-4	0.06860	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.38	3.26	0.36471	1.439000	0.34623	-0.116000	0.11774	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.828:0.0:0.0:0.172	8.59	0.32843	988	0.01987	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	0.008163	0.005102	0.006812	0.002976	0.000000	0.017544	0.006250	0.011628	0.1667	11200.1	180	chr1	248626521	.	A	C	11200.1	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.5;DP=1708;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.911;SOR=0.693	GT:AD:DP:GQ:PL	0/1:166,196:362:99:5686,0,4686	4	0	2	0
chr2	3681708	3681708	G	T	exonic	ALLC	.	nonsynonymous SNV	ALLC:NM_018436:exon6:c.G373T:p.A125S	.	10	1511	1	0	0	1	0.000330797	.	.	.	4158816	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00255851694961	.	.	2.336e-05	0	0	0	0	4.186e-05	0	0	1.29e-05	2	154602	rs749009526	4.397e-05	4.447e-05	4.507e-05	4.285e-05	0.0028	3.524e-05	3.207e-05	0.0017	0.0014	6.003e-05	4.536e-05	0	0	0	0.0028	3.157e-05	0.0001	1.18e-05	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0001	8.14e-06	5.14e-06	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0.0034	0	0.0005	0	0.702	0.04148	T	0.707	0.05582	T	.	.	.	.	.	.	0.009530	0.30318	N	0.387373	1	0.08975	N	.	.	.	.	.	.	0.25	0.04456	N	0.088	0.06587	-1.0295	0.20616	T	0.056	0.23602	T	9	0.042873412	0.03079	T	0.002559	0.05150	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.27936613195300564	0.27849	0.0552922057858	0.06117	0.322305321693	0.13770	T	.	.	.	-0.415241	0.01836	T	-0.655169	0.08596	T	0.0173166445760277	0.00471	T	0.542746	0.18485	T	0.035968322	0.04335	0.037192017	0.03321	0.035968322	0.04334	0.037192017	0.03321	-3.354	0.14444	T	.	.	0.079	0.07318	B	.	.	0.315782	0.06908	3.445	0.51494055798849014	0.04573	0.04399	0.09983	N	AEFBI	0.053770	0.09717	N	-1.02645829773793	0.08057	0.3764727	-1.04724392606691	0.08764	0.4325232	5.95006950870974E-4	0.07414	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	4.98	0.827	0.17972	0.182000	0.16710	1.166000	0.24589	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0942:0.0:0.4057:0.5	5.757	0.17443	952	0.10565	Allantoicase 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	0.002518	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.08333	568.83	37	chr2	3681708	.	G	T	568.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.147;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.144;SOR=0.603	GT:AD:DP:GQ:PL	0/1:31,22:53:99:579,0,819	5	0	1	0
chr2	9543235	9543235	T	C	exonic	ADAM17	.	nonsynonymous SNV	ADAM17:NM_003183:exon2:c.A148G:p.I50V	.	6	1514	2	0	0	2	0.000660066	.	.	.	451499	ADAM17-related_disorder|Inflammatory_skin_and_bowel_disease,_neonatal,_1|not_provided	.|MONDO:MONDO:0013693,MedGen:C3280501,OMIM:614328,Orphanet:294023|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.111	0.00418086133511	0.0030	0.00179712	0.0037	0.0011	0.0036	0.0001	0.0039	0.0054	0.0011	0.0006	0.0036739	568	154602	rs61754178	0.0046	0.0046	0.0047	0.0045	0.0053	0.0045	0.0045	0.0052	0.0052	0.0006	0.0048	0.0011	0	0.0039	0.0007	0.0053	0.0036	0.0009	0.0042	0.0042	0.0042	0.0042	0.0075	0.0039	0.0038	0.0064	0.0060	0.0010	0.0143	0.0075	0.0017	0	0.0036	0	0.0059	0.0080	0.0006	0.304	0.14303	T	0.117	0.40586	T	0.619	0.39896	P	0.354	0.42942	B	0.000000	0.84330	D	0.053469	0.773564	0.34180	D	2.095	0.58118	M	3.4	0.05642	T	-0.57	0.18877	N	0.489	0.52297	-1.0309	0.20163	T	0.044	0.18906	T	10	0.0067513883	0.00153	T	0.004181	0.10058	T	0.111	0.31313	.	.	0.447219684837	0.44343	0.38898428237473115	0.38813	0.592222424292	0.54623	0.577706754208	0.49763	T	0.051	0.28641	T	-0.476015	0.00781	T	-0.45462	0.27187	T	0.0344053946125191	0.02706	T	0.935206	0.76101	D	0.13874726	0.32077	0.12235683	0.29515	0.17529742	0.38380	0.113125175	0.27300	-2.934	0.09487	T	.	.	0.094	0.41992	B	.;.;.	.;.;.	2.537304	0.32816	19.16	0.99855815889858179	0.93458	0.93222	0.57644	D	AEFBI	0.353586	0.44596	N	0.319011858257661	0.57125	3.878717	0.372166023018629	0.59855	4.166949	0.999999290401688	0.74766	0.736574	0.97449	0	0.658105	0.61773	0	0.709663	0.75317	0	0.677812	0.66336	0	.	.	5.29	5.29	0.74430	5.438000	0.66300	4.167000	0.42248	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.552	0.75899	607	0.67291	Peptidase M12B, propeptide;Peptidase M12B, propeptide;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.015152	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	492.83	38	chr2	9543235	.	T	C	492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.778;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.51;SOR=0.616	GT:AD:DP:GQ:PL	0/1:22,21:43:99:503,0,592	5	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	140.5	30	chr2	23864893	.	T	C	140.5	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.338;DP=175;ExcessHet=1.7609;FS=115.489;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=0.798;SOR=7.378	GT:AD:DP:GQ:PL	0/1:20,12:32:31:31,0,153	2	0	3	1
chr2	24793336	24793336	C	G	exonic	PTRHD1	.	nonsynonymous SNV	PTRHD1:NM_001013663:exon1:c.G42C:p.K14N	.	432	1088	2	0	0	2	0.000918274	.	.	.	3190020	PTRHD1-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00758062619207	.	.	3.332e-05	0	0	0	0	3.043e-05	0	0.0001	3.23e-05	5	154602	rs748060375	1.505e-05	1.505e-05	9.531e-06	2.063e-05	0.0003	9.86e-06	8.42e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	9.892e-06	6.623e-05	5.797e-05	6.568e-06	6.566e-06	1.284e-05	0	6.539e-05	0	0	.	.	0	0	6.539e-05	0	0	0	0	0	0	0	0.058	0.37750	T	0.03	0.54159	D	0.001	0.07471	B	0.002	0.06944	B	0.409945	0.13010	N	0.750110	1	0.81001	D	1.77	0.45869	L	2.49	0.14531	T	-0.37	0.13226	N	0.238	0.26837	-1.0581	0.12235	T	0.030	0.12717	T	10	0.0674265	0.09393	T	0.007581	0.20113	T	0.051	0.14325	0.348	0.34436	0.261217442401	0.25729	0.5974306196692842	0.59674	0.230462537152	0.25593	0.536817193031	0.43997	T	0.021433	0.16689	T	-0.454871	0.01057	T	-0.709639	0.05314	T	0.169879868626595	0.18572	T	0.441756	0.12241	T	0.118291266	0.27873	0.10739711	0.25854	0.118291266	0.27873	0.10739711	0.25853	-4.655	0.32855	T	.	.	0.173	0.37932	B	.	.	2.504285	0.32334	19.01	0.9834259558500813	0.40457	0.61718	0.31567	D	ALL	0.217161	0.34232	N	-0.302246405414139	0.29062	1.608399	-0.200242742471776	0.31528	1.78514	0.999999999999935	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	5.32	2.15	0.26590	0.311000	0.19129	1.139000	0.24389	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.898000	0.43474	0.1823:0.5179:0.1763:0.1235	2.432	0.04200	373	0.84140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1136.83	33	chr2	24793336	.	C	G	1136.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.808;DP=278;ExcessHet=0;FS=3.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.802;SOR=1.06	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1147,0,1575	5	0	1	0
chr2	24817672	24817672	G	T	exonic	CENPO	.	nonsynonymous SNV	CENPO:NM_001199803:exon6:c.G751T:p.V251L,CENPO:NM_001322101:exon7:c.G769T:p.V257L,CENPO:NM_024322:exon7:c.G769T:p.V257L	.	.	.	.	.	.	.	.	.	.	.	2272112	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.00405062445264	0.0003	.	9.063e-05	0	0	0	0	0.0002	0	0	0.0001229	19	154602	rs139463930	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0001	2.236e-05	0	0	0	0	0.0004	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0002	8.667e-05	7.258e-05	0.0001	8.876e-05	0.0002	0	0	0	0	0	0	0.0002	0	0	0.135	0.26192	T	0.254	0.23707	T	0.002	0.14655	B	0.001	0.08700	B	0.018009	0.01478	N	2.679320	1	0.08975	N	0.345	0.11182	N	0.97	0.42502	T	-0.4	0.13805	N	0.075	0.10626	-1.0553	0.12961	T	0.058	0.24167	T	10	0.031077474	0.01239	T	0.004051	0.09650	T	0.004	0.00165	0.292	0.25400	0.455816718377	0.45207	0.2069239218925654	0.20608	0.130950047819	0.14771	0.208900973201	0.00765	T	0.009446	0.08603	T	-0.501703	0.00559	T	-0.689138	0.06439	T	0.0189119629039701	0.00601	T	0.585341	0.21331	T	0.0997902	0.23555	0.042895116	0.05214	0.0997902	0.23555	0.042895116	0.05213	-3.582	0.17596	T	.	.	0.091	0.12985	B	.;.;.	.;.;.	-0.374778	0.02308	0.244	0.55024577374090311	0.05257	0.11863	0.16910	N	AEFGBCI	0.089806	0.18203	N	-1.59813503459398	0.01274	0.0554346	-1.63723021096063	0.01443	0.06527628	0.999820387835954	0.43622	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.27	-4.92	0.02848	-0.630000	0.05599	-0.107000	0.11873	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.2755:0.2835:0.4409:0.0	6.632	0.22053	356	0.85138	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	672.83	34	chr2	24817672	.	G	T	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.467;DP=232;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.783;SOR=0.551	GT:AD:DP:GQ:PL	0/1:30,27:57:99:683,0,829	5	0	1	0
chr2	27212400	27212400	C	T	exonic	ATRAID	.	nonsynonymous SNV	ATRAID:NM_001170795:exon1:c.C32T:p.T11I	.	413	1067	42	0	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00296217740148	0.0003	0.000798722	0.0034	0.0005	0.0026	0.0014	0	0.0033	0.0059	0.0044	0.0010284	159	154602	rs201498828	0.0012	0.0012	0.0010	0.0013	0.0286	0.0011	0.0011	0.0250	0.0237	0.0004	0.0015	0.0018	2.789e-05	0.0002	0.0286	0.0008	0.0020	0.0046	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0008	0.0026	0.0021	0.0003	0	0.0012	0.0009	0	0	0.0306	0.0011	0.0024	0.0039	0.296	0.14694	T	0.29	0.22359	T	0.0	0.02946	B	0.0	0.01387	B	0.257061	0.03684	N	1.463700	1	0.20048	N	0	0.06538	N	0.91	0.44856	T	-1.02	0.26843	N	0.014	0.02179	-1.0632	0.10974	T	0.038	0.16246	T	10	0.0035203993	0.00063	T	0.002962	0.06309	T	0.006	0.00375	.	.	0.0716867268079	0.06686	0.2802022403104454	0.27933	0.0688238525608	0.07705	0.495511114597	0.38203	T	0.001769	0.01195	T	-0.681762	0.00047	T	-0.752088	0.03405	T	0.0480647877707699	0.05155	T	0.29917	0.05580	T	0.02529811	0.01453	0.037971	0.03565	0.02529811	0.01453	0.037971	0.03565	-4.968	0.36568	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	-0.876831	0.00965	0.038	0.78579484111606301	0.12362	0.00580	0.02616	N	ALL	0.280443	0.39426	N	-1.96612234714031	0.00250	0.01071068	-2.04380727462077	0.00247	0.01088824	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.45	-8.91	0.00669	-2.451000	0.01083	-0.738000	0.07632	-1.278000	0.01271	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.149:0.392:0.1422:0.3168	2.698	0.04823	252	0.90114	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014675	0.010989	0.011142	0.029762	0.000000	0.046296	0.009677	0.007812	0.08333	553.83	39	chr2	27212400	.	C	T	553.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=199;ExcessHet=0;FS=4.506;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=1.7;SOR=1.102	GT:AD:DP:GQ:PL	0/1:21,21:42:99:564,0,503	5	0	1	0
chr2	27470935	27470935	G	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon16:c.C1685G:p.T562S	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	436	1022	63	1	0	65	0.0308203	.	.	.	451000	not_specified|not_provided|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0052	0.00279553	0.0072	0.0017	0.0043	0.0001	0.0036	0.0096	0.0139	0.0081	0.0065782	1017	154602	rs61743977	0.0062	0.0062	0.0060	0.0064	0.0378	0.0061	0.0060	0.0336	0.0321	0.0010	0.0046	0.0219	2.533e-05	0.0032	0.0378	0.0060	0.0079	0.0082	0.0049	0.0049	0.0049	0.0049	0.0070	0.0046	0.0045	0.0065	0.0063	0.0010	0	0.0038	0.0196	0	0.0035	0.0612	0.0070	0.0066	0.0064	0.388	0.10909	T	0.14	0.33554	T	0.002	0.09854	B	0.003	0.08700	B	0.000005	0.62929	N	0.108408	0.819621	0.34757	D	0.55	0.14455	N	3.5	0.05014	T	0.26	0.04380	N	0.093	0.07262	-0.8830	0.49521	T	0.007	0.02478	T	10	0.0037594736	0.00070	T	.	.	.	0.159	0.41286	0.406	0.43902	0.112648838833	0.10856	0.1681209475804747	0.16732	0.158194110733	0.17867	0.332134783268	0.15256	T	0.105979	0.41692	T	-0.648558	0.00074	T	-0.699117	0.05874	T	0.0478384942027357	0.05115	T	0.679032	0.28770	T	0.07482146	0.16818	0.11939129	0.28818	0.07310221	0.16309	0.13313392	0.31930	-0.821	0.00821	T	0.05207728016525325	0.00985	0.073	0.04764	B	.	.	2.911773	0.38627	20.8	0.91152418099870303	0.20406	0.99456	0.96256	D	AEFBI	0.880369	0.80696	D	-0.189368090475749	0.33575	1.906461	0.0649026428597816	0.42799	2.595053	0.99999999862882	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.142000	0.93794	9.823000	0.81815	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	17.646	0.88052	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026714	0.025253	0.024457	0.040936	0.000000	0.034483	0.030675	0.015152	0.08333	1606.83	34	chr2	27470935	.	G	C	1606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.242;DP=301;ExcessHet=0;FS=7.38;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.298;SOR=0.287	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1617,0,2028	5	0	1	0
chr2	31398641	31398641	A	G	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon5:c.T365C:p.M122T	Xanthinuria, type I, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.660	0.0506933330513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.21	0.89262	M	0.62	0.53302	T	-5.46	0.85541	D	0.962	0.97207	-0.1374	0.79228	T	0.379	0.73602	T	10	0.93081456	0.92421	D	0.050693	0.64350	D	0.660	0.87283	0.744	0.87570	0.855870461239	0.85448	0.9350174078269547	0.93481	0.288029902863	0.31207	0.8215482831	0.85265	D	0.521098	0.83254	D	0.328519	0.85063	D	0.234119	0.84867	D	0.998457670211792	0.94196	D	0.961604	0.85550	D	0.9147958	0.92747	0.9313203	0.97185	0.9147958	0.92748	0.9313203	0.97186	-10.42	0.76386	D	.	.	0.951	0.87039	P	.	.	4.612040	0.73149	25.9	0.99322860155422898	0.59469	0.97947	0.78343	D	AEFBI	0.927047	0.90910	D	0.891778552506652	0.91351	10.83976	0.824750289173257	0.91460	10.89744	0.999999999996843	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	9.267000	0.94815	11.035000	0.85107	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.789	0.78103	914	0.21048	[2Fe-2S]-binding|Xanthine dehydrogenase, small 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	.	.	.	.	.	.	.	.	0.08333	1408.83	37	chr2	31398641	.	A	G	1408.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.848;DP=282;ExcessHet=0;FS=4.996;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-2.717;SOR=0.361	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1419,0,1167	5	0	1	0
chr2	32501840	32501840	G	C	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon47:c.G9156C:p.M3052I,BIRC6:NM_016252:exon47:c.G9159C:p.M3053I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0210305003438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.032	0.53426	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.77	0.73523	T	-0.4	0.13805	N	0.898	0.89800	-0.3379	0.73904	T	0.438	0.77708	T	10	0.7588762	0.76191	D	0.021031	0.43733	T	0.398	0.71242	0.329	0.31357	0.918159571555	0.91733	0.7158487916178908	0.71527	0.339876716782	0.35937	0.842360556126	0.88455	D	.	.	.	0.32816	0.85040	D	0.233603	0.84844	D	0.631927150398555	0.37698	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	0.80489	P	.	.	3.468048	0.48368	22.6	0.98229331509069617	0.39378	0.99469	0.96414	D	AEFBI	0.874638	0.79762	D	0.632884932769878	0.75266	6.275577	0.698792109254462	0.82284	7.729767	0.999999999910216	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	10.003000	0.99689	11.849000	0.98023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.527	0.95205	314	0.87270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	516.83	25	chr2	32501840	.	G	C	516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.57;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.499;SOR=0.795	GT:AD:DP:GQ:PL	0/1:21,17:38:99:527,0,523	5	0	1	0
chr2	33280135	33280135	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon15:c.G2111A:p.R704Q,LTBP1:NM_001166264:exon15:c.G2111A:p.R704Q,LTBP1:NM_001166265:exon15:c.G1952A:p.R651Q,LTBP1:NM_001166266:exon15:c.G1952A:p.R651Q,LTBP1:NM_206943:exon19:c.G3089A:p.R1030Q	.	428	1036	52	6	0	64	0.0299625	.	.	.	719864	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0032	0.00638978	0.0065	0.0005	0.0025	0	0.0018	0.0049	0.0110	0.0247	0.0059637	922	154602	rs61754247	0.0045	0.0045	0.0037	0.0053	0.0251	0.0044	0.0044	0.0242	0.0239	0.0004	0.0026	0.0098	0	0.0024	0.0163	0.0032	0.0048	0.0251	0.0036	0.0036	0.0031	0.0041	0.0228	0.0033	0.0032	0.0194	0.0181	0.0005	0.0055	0.0043	0.0069	0.0004	0.0021	0.0102	0.0041	0.0061	0.0228	0.154	0.31088	T	0.086	0.40909	T	0.059	0.23051	B	0.019	0.18783	B	.	.	.	.	0.823765	0.34814	D	0.12	0.08593	N	-2.22	0.87038	D	-1.72	0.44852	N	0.216	0.30461	-0.4979	0.68725	T	0.311	0.68157	T	9	0.00931707	0.00210	T	.	.	.	0.266	0.57999	.	.	0.147330786459	0.14319	0.3750624688550842	0.37420	0.156418775729	0.17651	0.336470723152	0.15909	T	0.439289	0.78463	T	-0.350134	0.04718	T	-0.256795	0.49144	T	0.0132996338947798	0.00238	T	0.776522	0.40874	T	0.05123657	0.09380	0.08955381	0.20949	0.05123657	0.09380	0.08955381	0.20948	-4.954	0.36336	T	.	.	0.079	0.07460	B	.;.;.;.;.	.;.;.;.;.	3.118524	0.42097	21.5	0.99195457660073694	0.55112	0.83638	0.42742	D	AEFBI	0.184274	0.31160	N	-0.402969708021339	0.25365	1.376381	-0.197852517081355	0.31615	1.790878	0.975626632394486	0.29650	0.706548	0.73137	0	0.610034	0.51514	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.53	3.73	0.41982	2.280000	0.43103	3.427000	0.38290	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.2116:0.0:0.7884:0.0	9.817	0.40028	849	0.35778	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|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	0.012097	0.015306	0.008152	0.005848	0.000000	0.008621	0.024390	0.015152	0.08333	521.83	33	chr2	33280135	.	G	A	521.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=232;ExcessHet=0;FS=1.065;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.18;SOR=0.527	GT:AD:DP:GQ:PL	0/1:37,22:59:99:532,0,918	5	0	1	0
chr2	42301364	42301364	A	G	exonic	EML4	.	nonsynonymous SNV	EML4:NM_001145076:exon13:c.A1439G:p.H480R,EML4:NM_019063:exon14:c.A1613G:p.H538R	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0109883385702	.	.	0.0002	0	0.0003	0	0	7.838e-05	0	0.0006	0.0001164	18	154602	rs766300160	7.121e-05	7.182e-05	5.45e-05	8.808e-05	0.0006	5.985e-05	5.593e-05	0.0004	0.0004	0	0.0004	0	0	0	0.0003	2.699e-05	9.947e-05	0.0006	9.847e-05	9.842e-05	8.993e-05	0.0001	0.0008	6.001e-05	4.876e-05	0.0003	0.0002	2.405e-05	0	0.0003	0	0	0	0	7.351e-05	0.0005	0.0008	0.404	0.10802	T	0.393	0.15355	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.755	0.19153	N	0.63	0.53088	T	-1.58	0.38151	N	0.632	0.67822	-0.9189	0.45702	T	0.166	0.50469	T	10	0.14746723	0.27942	T	0.010988	0.28145	T	0.197	0.47942	0.497	0.58678	0.453401982733	0.44964	0.5882228102698757	0.58752	0.0631181921462	0.07026	0.788238108158	0.80175	T	0.020932	0.16390	T	-0.0976418	0.36816	T	-0.0138692	0.69431	D	0.0833015133120997	0.10404	T	0.839916	0.51465	T	0.23504056	0.46333	0.20943293	0.45288	0.23504056	0.46333	0.20943293	0.45287	-11.522	0.82445	D	.	.	0.068	0.11510	B	.;.;.	.;.;.	4.502939	0.70449	25.5	0.99445981987443299	0.65021	0.99563	0.97479	D	AEFGBI	0.824549	0.74442	D	0.26917785083807	0.54594	3.624575	0.394255642347139	0.61211	4.317951	0.999999967168559	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	7.019000	0.76152	11.150000	0.87324	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.748	0.77729	904	0.23766	WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	861.83	39	chr2	42301364	.	A	G	861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.947;DP=221;ExcessHet=0;FS=2.327;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=1.54;SOR=0.427	GT:AD:DP:GQ:PL	0/1:24,35:59:99:872,0,600	5	0	1	0
chr2	43644707	43644707	G	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon2:c.G34T:p.D12Y	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0436933000781	.	.	1.048e-05	0	0	0	0	1.996e-05	0	0	6.5e-06	1	154602	rs558946969	7.559e-06	7.525e-06	4.102e-06	1.105e-05	0.0005	4.06e-06	2.97e-06	0.0001	7.578e-05	0	0	0	0	0	0.0005	6.32e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.995	0.67487	D	0.831	0.59664	P	0.000033	0.55875	D	0.114440	0.946789	0.37541	D	2.415	0.69758	M	0.62	0.53302	T	-4.15	0.75297	D	0.778	0.77507	-0.5458	0.66945	T	0.243	0.61107	T	10	0.68986154	0.71788	D	0.043693	0.61115	D	0.236	0.53931	0.426	0.47185	0.359151904892	0.35523	0.3374147879372238	0.33654	0.144387688307	0.16313	0.594457507133	0.52123	T	0.179401	0.53038	T	0.138683	0.68200	D	-0.038568	0.67799	D	0.990137815475464	0.80349	D	0.879712	0.59601	D	0.6302561	0.74312	0.51575536	0.72020	0.6302561	0.74313	0.51575536	0.72021	-9.48	0.70735	D	.	.	0.224	0.45593	B	.	.	4.514617	0.70726	25.6	0.99330031891553094	0.59738	0.91909	0.54526	D	AEFI	0.593353	0.58871	D	0.551117432408735	0.70152	5.459478	0.525881375904064	0.69737	5.403318	0.728489389218857	0.23015	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.4	4.52	0.54797	4.242000	0.58509	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0802:0.0:0.9198:0.0	12.919	0.57616	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	.	.	.	.	.	.	.	.	0.1667	472.06	33	chr2	43644707	.	G	T	472.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.143;DP=152;ExcessHet=0.4139;FS=2.463;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-0.06;SOR=0.374	GT:AD:DP:GQ:PL	0/1:7,11:18:99:233,0,208	4	0	2	0
chr2	44320382	44320382	G	C	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1801C:p.E601Q	Cystinuria, Autosomal recessive, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0168761262378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.11262	T	0.516	0.17910	T	0.02	0.18235	B	0.005	0.11217	B	0.123165	0.18928	N	0.589505	1	0.81001	D	2.03	0.55503	M	-4.16	0.96826	D	-0.68	0.21644	N	0.065	0.03956	0.279	0.87225	D	0.789	0.92829	D	10	0.14294839	0.27146	T	0.016876	0.38341	T	0.317	0.63904	0.441	0.49648	0.840170263872	0.83864	0.49457928016213903	0.49378	0.00643098359637	0.00562	0.314579546452	0.12600	T	0.221453	0.58503	T	0.0677091	0.60570	T	-0.140517	0.60073	T	0.133556469586229	0.15706	T	0.564644	0.21854	T	0.1559119	0.35212	0.04737812	0.06812	0.1559119	0.35212	0.04737812	0.06811	-4.34	0.34997	T	0.16450507169122866	0.20334	0.098	0.17742	B	.;.;.	.;.;.	1.607065	0.20540	14.80	0.98440658981604001	0.41508	0.71240	0.34928	D	AEFBHCI	0.259600	0.37791	N	-0.124676017451481	0.36319	2.097798	0.0488131438889831	0.42014	2.533949	0.235671440171592	0.18515	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.11	0.69188	0.844000	0.27307	4.453000	0.43430	0.596000	0.33519	0.129000	0.23328	1.000000	0.68203	0.998000	0.85391	0.0722:0.1577:0.7701:0.0	11.464	0.49471	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	.	.	.	.	.	.	.	.	0.08333	933.83	33	chr2	44320382	.	G	C	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.589;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.206;SOR=0.618	GT:AD:DP:GQ:PL	0/1:62,41:103:99:944,0,1878	5	0	1	0
chr2	44338419	44338419	G	C	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042386:exon7:c.C1087G:p.L363V,PREPL:NM_001171613:exon7:c.C820G:p.L274V,PREPL:NM_001171617:exon7:c.C820G:p.L274V,PREPL:NM_001374277:exon7:c.C820G:p.L274V,PREPL:NM_006036:exon7:c.C1087G:p.L363V,PREPL:NM_001171603:exon8:c.C1087G:p.L363V,PREPL:NM_001171606:exon8:c.C1087G:p.L363V,PREPL:NM_001374275:exon8:c.C1087G:p.L363V,PREPL:NM_001374276:exon8:c.C1087G:p.L363V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0187258541385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.24372	T	0.866	0.06427	T	0.716	0.42206	P	0.288	0.40614	B	0.000103	0.50451	D	0.137025	0.985971	0.81001	D	0.75	0.19020	N	1.0	0.41392	T	-0.41	0.16187	N	0.383	0.42541	-0.9720	0.36776	T	0.110	0.39723	T	10	0.2905504	0.46635	T	0.018726	0.40888	T	0.105	0.29889	0.552	0.66856	0.399159426805	0.39527	0.5945990608760422	0.59389	0.0126997293129	0.01221	0.664878547192	0.62107	T	0.024924	0.18739	T	-0.0949127	0.37265	T	-0.374112	0.36408	T	0.6251180768013	0.37416	D	0.855714	0.54589	D	0.10428515	0.24653	0.11058277	0.26664	0.10428515	0.24653	0.11058277	0.26664	-2.68	0.17713	T	0.19564141764541546	0.25816	0.196	0.54190	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.687392	0.35076	19.80	0.93943178941358574	0.23999	0.91054	0.52770	D	AEFBI	0.293903	0.40441	N	0.0682955789052144	0.44988	2.763003	0.175926879175334	0.48533	3.067832	0.993032636375026	0.33060	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	3.275000	0.51342	5.248000	0.48084	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.078	0.93151	840	0.37365	.;.;.;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1620.06	33	chr2	44338419	.	G	C	1620.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.219;DP=221;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.561;SOR=0.629	GT:AD:DP:GQ:PL	0/1:23,24:47:99:638,0,688	4	0	2	0
chr2	44942319	44942319	C	T	exonic	SIX3	.	nonsynonymous SNV	SIX3:NM_005413:exon1:c.C215T:p.A72V	Holoprosencephaly 2, Autosomal dominant, Isolated cases;Schizencephaly	3	1506	11	2	0	15	0.0049554	.	.	.	2974809	Inborn_genetic_diseases|Holoprosencephaly_2	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007999,MedGen:C1834877,OMIM:157170,Orphanet:2162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.903417206577	.	.	9.679e-05	0	0	0	0	7.97e-05	0	0.0003	5.17e-05	8	154602	rs781731500	6.688e-05	6.704e-05	4.709e-05	8.689e-05	0.0004	5.596e-05	5.201e-05	0.0001	0.0001	0	0	0	7.664e-05	0	0.0004	5.242e-05	0.0002	0.0002	1.986e-05	1.972e-05	1.293e-05	2.712e-05	4.436e-05	5.28e-06	2.46e-06	1.178e-05	6.27e-06	0	0	0	0	0	0	0	4.436e-05	0	0	0.137	0.25979	T	0.144	0.33109	T	0.442	0.35927	B	0.051	0.25434	B	0.023576	0.26418	U	0.276023	0.985303	0.24723	N	0.805	0.20218	L	-3.02	0.92258	D	-0.31	0.12099	N	0.328	0.36884	-0.4221	0.71323	T	0.537	0.82873	D	10	0.20037779	0.36083	T	0.903417	0.99275	D	0.202	0.48754	0.095	0.01241	0.861652415154	0.86031	0.6933912227227136	0.69279	1.11979540044	0.78263	0.892723858356	0.95595	D	0.206214	0.56549	T	-0.182625	0.23345	T	-0.192688	0.55338	T	0.0315128301708468	0.02228	T	0.532447	0.17709	T	0.10677463	0.25247	0.13802749	0.32975	0.10677463	0.25247	0.13802749	0.32974	-4.057	0.24654	T	0.0883490182510563	0.05285	0.092	0.13690	B	.	.	4.946549	0.81679	27.6	0.9851990051313293	0.42447	0.60140	0.31111	D	AEFDBCIJ	0.075902	0.15255	N	-0.331111124992804	0.27972	1.539053	-0.286900461463469	0.28529	1.59143	0.999530390351953	0.40238	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.72	1.8	0.24069	0.864000	0.27581	5.624000	0.49094	0.503000	0.22915	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.7777:0.2223:0.0	9.289	0.36934	748	0.52143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002548	0.000000	0.005450	0.000000	0.000000	0.008621	0.000000	0.003817	0.08333	1165.83	45	chr2	44942319	.	C	T	1165.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.72;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.651;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1176,0,1378	5	0	1	0
chr2	68386616	68386616	T	C	exonic	PLEK	.	nonsynonymous SNV	PLEK:NM_002664:exon5:c.T587C:p.M196T	.	428	1091	3	0	0	3	0.001373	.	.	.	3997148	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.00296999753974	7.7e-05	0.000199681	0.0001	9.61e-05	0.0003	0	0	0.0001	0	0.0002	0.00011	17	154602	rs143153981	4.584e-05	4.652e-05	4.901e-05	4.263e-05	0.0009	3.662e-05	3.348e-05	0.0003	0.0002	0	0.0002	0	0	0	0.0009	2.788e-05	0.0001	0.0002	5.908e-05	5.905e-05	2.57e-05	9.395e-05	0.0002	3.075e-05	2.208e-05	2.846e-05	1.858e-05	2.405e-05	0	0	0	0	0	0.0034	7.35e-05	0.0005	0.0002	0.29	0.14996	T	0.303	0.20164	T	0.0	0.02946	B	0.001	0.04355	B	0.056872	0.22525	N	0.479454	0.992595	0.23857	N	-1.01	0.01154	N	2.02	0.21119	T	-0.49	0.15578	N	0.029	0.00666	-1.0001	0.29888	T	0.016	0.06569	T	10	0.039812833	0.02500	T	0.00297	0.06339	T	0.075	0.21907	.	.	0.589843679045	0.58660	0.2508097299409253	0.24994	0.0588096499153	0.06527	0.363173186779	0.19847	T	0.066236	0.32893	T	-0.507309	0.00520	T	-0.706811	0.05461	T	0.0270311461883977	0.01549	T	0.764224	0.39120	T	0.06680564	0.14408	0.08013641	0.18103	0.06680564	0.14407	0.08013641	0.18103	-1.605	0.01993	T	.	.	0.069	0.03128	B	.	.	2.560094	0.33151	19.26	0.88985742080117947	0.18416	0.68428	0.33798	D	AEFDGBHCI	0.245504	0.36642	N	-0.466777199219861	0.23175	1.242676	-0.195721689532715	0.31693	1.796037	0.999999999781173	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.38	5.38	0.77279	3.135000	0.50241	7.797000	0.69042	0.661000	0.55757	0.809000	0.29839	1.000000	0.68203	0.937000	0.47636	0.0:0.084:0.0:0.916	10.153	0.41978	563	0.71062	DEP domain|DEP domain|DEP domain|Pleckstrin 1, DEP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.008772	0.000000	0.008621	0.000000	0.000000	0.08333	876.83	34	chr2	68386616	.	T	C	876.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.436;DP=272;ExcessHet=0;FS=5.779;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.707;SOR=0.286	GT:AD:DP:GQ:PL	0/1:43,41:84:99:887,0,1184	5	0	1	0
chr2	70900637	70900637	G	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon1:c.G16A:p.A6T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.936596288065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.47e-06	1.71e-05	5.131e-06	3.747e-06	0.0003	1.31e-06	9.5e-07	3.5e-07	1.3e-07	0	0	0	0	0	0.0003	2.127e-06	2.209e-05	3.123e-05	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.096	0.31088	T	0.293	0.20811	T	0.003	0.11197	B	0.002	0.06944	B	0.000186	0.48115	N	0.138148	0.775222	0.29393	N	0.55	0.14455	N	-2.51	0.89293	D	-0.09	0.08340	N	0.188	0.20528	-0.7764	0.56504	T	0.353	0.71665	T	10	0.19354981	0.35129	T	0.936596	0.99546	D	0.163	0.42028	0.282	0.23801	0.809877041126	0.80809	0.0923105903689296	0.09163	0.0402233226673	0.04305	0.872938036919	0.92986	D	0.079453	0.36132	T	-0.108211	0.35064	T	-0.393214	0.34175	T	0.724695086479187	0.41937	D	0.529347	0.17530	T	0.10999901	0.26004	0.16898416	0.38899	0.10999901	0.26003	0.16898416	0.38899	-5.257	0.39516	T	.	.	0.124	0.26200	B	.	.	2.530784	0.32720	19.13	0.99471084607114635	0.66365	0.65670	0.32815	D	ALL	0.047659	0.08047	N	-0.621890079400354	0.18288	0.948235	-0.491284557300689	0.22392	1.216032	0.999999997533736	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.72	0.497	0.16109	0.524000	0.22648	1.797000	0.28849	0.502000	0.22824	0.677000	0.28411	1.000000	0.68203	0.997000	0.79791	0.2267:0.2029:0.5704:0.0	3.922	0.08748	733	0.53988	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.29	13	chr2	70900637	.	G	A	30.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:25:40,0,25	5	0	1	0
chr2	70933131	70933131	C	T	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon3:c.C800T:p.S267L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.804986293268	7.7e-05	.	6.357e-05	0	0	0.0001	0.0006	0	0	0.0002	4.53e-05	7	154602	rs141208791	3.723e-05	3.762e-05	4.386e-05	3.052e-05	0.0002	2.916e-05	2.613e-05	0.0001	8.037e-05	6.029e-05	2.311e-05	3.957e-05	2.527e-05	0.0003	0	1.626e-05	3.338e-05	0.0002	9.847e-05	9.841e-05	2.569e-05	0.0002	0.0006	6.001e-05	4.875e-05	0.0002	8.992e-05	0	0	0	0	0	0.0009	0	2.94e-05	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-2.78	0.90962	D	-2.57	0.55501	D	0.438	0.47672	0.683	0.92964	D	0.759	0.91795	D	10	0.49784836	0.61372	T	0.804986	0.98476	D	0.612	0.84826	.	.	0.995957864842	0.99591	0.4776292850191829	0.47682	0.258122249749	0.28371	0.617861390114	0.55427	T	0.258974	0.63019	T	0.144798	0.68778	D	0.156119	0.80567	D	0.628081262111664	0.37539	D	0.889211	0.62120	D	0.5715698	0.71146	0.5717478	0.75199	0.5715698	0.71147	0.5717478	0.75200	-3.316	0.13945	T	.	.	0.126	0.26794	B	.	.	3.907735	0.56965	23.8	0.99884475871140666	0.95970	0.97676	0.76338	D	AEFDBI	0.702397	0.65878	D	0.414915590146932	0.62242	4.436939	0.377446157438749	0.60178	4.202486	0.999999999992846	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.06	5.06	0.67838	2.134000	0.41725	5.941000	0.51480	0.549000	0.26987	0.741000	0.29037	1.000000	0.68203	0.663000	0.33052	0.0:1.0:0.0:0.0	15.928	0.79422	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1157.83	34	chr2	70933131	.	C	T	1157.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.724;DP=273;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.071;SOR=0.577	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1168,0,1054	5	0	1	0
chr2	71133301	71133301	G	A	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon2:c.G493A:p.V165I	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00352055539245	0.0022	0.000998403	0.0017	0.0003	0.0017	0.0001	0.0009	0.0025	0.0011	0.0004	0.0018305	283	154602	rs150757204	0.0020	0.0020	0.0019	0.0020	0.0107	0.0019	0.0019	0.0086	0.0078	0.0004	0.0022	0.0012	0.0001	0.0005	0.0107	0.0022	0.0018	0.0005	0.0015	0.0015	0.0016	0.0015	0.0024	0.0014	0.0013	0.0021	0.0020	0.0006	0	0.0018	0.0014	0	0.0003	0	0.0024	0.0028	0.0008	0.235	0.18000	T	0.189	0.28575	T	0.424	0.35452	B	0.09	0.29851	B	0.622136	0.05762	N	1.217970	1	0.08975	N	2.125	0.59049	M	2.93	0.09822	T	-0.25	0.11008	N	0.043	0.01825	-1.0419	0.16741	T	0.028	0.11882	T	10	0.0066148043	0.00150	T	0.003521	0.08000	T	0.155	0.40530	.	.	0.418401263072	0.41457	0.02593647647647041	0.02544	0.0987835696612	0.11157	0.266994297504	0.05752	T	0.00739	0.06799	T	-0.682338	0.00046	T	-0.757834	0.03191	T	0.0200862010769222	0.00709	T	0.573743	0.20563	T	0.035979446	0.04338	0.041145176	0.04610	0.035979446	0.04337	0.041145176	0.04610	-3.796	0.20745	T	.	.	0.079	0.12132	B	.;.	.;.	1.684923	0.21469	15.21	0.98257954481801291	0.39639	0.31448	0.24340	N	AEFGBI	0.100723	0.20246	N	-0.256300679930867	0.30852	1.724281	-0.266832775938537	0.29198	1.633938	0.999999786627001	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.05	4.16	0.48138	0.926000	0.28405	.	.	0.676000	0.76740	0.000000	0.06391	0.156000	0.23222	0.915000	0.45038	0.093:0.0:0.907:0.0	10.848	0.45958	870	0.31527	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.012195	0.011364	0.1667	1800.06	55	chr2	71133301	.	G	A	1800.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.61;DP=290;ExcessHet=0.4139;FS=3.312;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=1.07;SOR=1.039	GT:AD:DP:GQ:PL	0/1:33,26:59:99:743,0,842	4	0	2	0
chr2	73424791	73424791	A	T	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon5:c.A1126T:p.T376S,ALMS1:NM_015120:exon5:c.A1126T:p.T376S	Alstrom syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	451629	not_specified|not_provided|Alstrom_syndrome|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.015	0.00274625887	8.3e-05	.	0.0001	0	0	0	0	3.008e-05	0	0.0008	9.06e-05	14	154602	rs376750978	7.531e-05	7.524e-05	3.678e-05	0.0001	0.0010	6.387e-05	5.944e-05	0.0008	0.0007	0	0	0	0	0	0.0003	2.16e-05	1.657e-05	0.0010	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	9.413e-05	0	1.47e-05	0	0.0002	.	.	.	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.054229	0.22742	N	0.317898	0.99995	0.19072	N	-0.205	0.04094	N	.	.	.	.	.	.	0.039	0.01274	-0.9402	0.42584	T	0.013	0.04985	T	10	0.027503788	0.00895	T	0.002746	0.05665	T	.	.	0.125	0.03095	0.209622950755	0.20551	0.016354824804486426	0.01591	.	.	0.309904307127	0.11892	T	0.005978	0.11649	T	-0.538808	0.00341	T	-0.635891	0.09971	T	0.0271649528585842	0.01567	T	0.356464	0.08103	T	0.024471622	0.01281	0.023144731	0.00330	0.029052114	0.02339	0.0268248	0.00793	-2.782	0.08018	T	.	.	0.127	0.27100	B	.;.;.	.;.;.	-0.351454	0.02399	0.267	0.7596318051776797	0.11279	0.60884	0.31324	D	AEFBI	0.088459	0.17932	N	-1.00628001168059	0.08472	0.3973963	-0.872075787717964	0.12758	0.6581049	0.00222626395422805	0.09245	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.02	1.66	0.23081	1.342000	0.33524	2.714000	0.34259	-0.683000	0.04200	0.949000	0.33028	0.958000	0.29226	0.010000	0.09038	0.778:0.0:0.222:0.0	5.608	0.16669	553	0.71930	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	1496.83	34	chr2	73424791	.	A	T	1496.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.998;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.284;SOR=0.649	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1507,0,1170	5	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	1178.03	33	chr2	94876587	.	C	A	1178.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.141;DP=783;ExcessHet=1.383;FS=13.178;MLEAC=3;MLEAF=0.25;MQ=58.15;MQRankSum=-15.1;QD=1.77;ReadPosRankSum=-2.696;SOR=2.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,32:261:99:0|1:94876587_C_A:654,0,9466:94876587	3	0	3	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	196.02	224	chr2	94876599	.	C	T	196.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.786;DP=1036;ExcessHet=1.383;FS=11.144;MLEAC=3;MLEAF=0.25;MQ=57.94;MQRankSum=-14;QD=0.26;ReadPosRankSum=-1.332;SOR=1.929	GT:AD:DP:GQ:PL	0/1:256,27:283:59:59,0,10622	3	0	3	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5181.55	272	chr2	94876618	.	C	G	5181.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.193;DP=1614;ExcessHet=11.5949;FS=2.864;MLEAC=6;MLEAF=0.5;MQ=57.84;MQRankSum=-15.73;QD=3.22;ReadPosRankSum=-1.665;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,65:321:99:0|1:94876587_C_A:1959,0,10554:94876587	0	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	7558.55	298	chr2	94876632	.	C	T	7558.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.508;DP=1828;ExcessHet=11.5949;FS=0.73;MLEAC=6;MLEAF=0.5;MQ=57.29;MQRankSum=-16.62;QD=4.26;ReadPosRankSum=-0.764;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,89:360:99:0|1:94876587_C_A:2789,0,11091:94876587	0	0	6	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	9541.55	352	chr2	94876671	.	A	G	9541.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.803;DP=2062;ExcessHet=11.5949;FS=2.415;MLEAC=6;MLEAF=0.5;MQ=57.09;MQRankSum=-16.99;QD=4.66;ReadPosRankSum=3.98;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,109:421:99:0|1:94876671_A_G:3638,0,12655:94876671	0	0	6	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	10610.5	352	chr2	94876674	.	G	A	10610.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-5.835;DP=2088;ExcessHet=11.5949;FS=2.361;MLEAC=6;MLEAF=0.5;MQ=57.13;MQRankSum=-18.24;QD=5.17;ReadPosRankSum=4.44;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,109:421:99:0|1:94876671_A_G:3638,0,12669:94876671	0	0	6	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.3333	4172.96	338	chr2	94876731	.	C	T	4172.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.14;DP=1716;ExcessHet=3.1439;FS=6.452;MLEAC=4;MLEAF=0.333;MQ=57.61;MQRankSum=-18.2;QD=3.01;ReadPosRankSum=0.057;SOR=1.338	GT:AD:DP:GQ:PL	0/1:304,80:384:99:1902,0,8196	2	0	4	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1251.18	339	chr2	94876737	.	C	A	1251.18	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.465;DP=1192;ExcessHet=0.4139;FS=7.898;MLEAC=2;MLEAF=0.167;MQ=57.27;MQRankSum=-14.24;QD=1.74;ReadPosRankSum=-1.795;SOR=1.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,51:385:99:0|1:94876737_C_A:1136,0,13814:94876737	4	0	2	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1911.06	335	chr2	94876740	.	A	C	1911.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.83;DP=1191;ExcessHet=0.4139;FS=7.898;MLEAC=2;MLEAF=0.167;MQ=57.29;MQRankSum=-14.55;QD=2.68;ReadPosRankSum=-2.111;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,51:385:99:0|1:94876737_C_A:1136,0,13798:94876737	4	0	2	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	5188.55	176	chr2	95855390	.	T	C	5188.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.46;DP=1041;ExcessHet=11.5949;FS=19.931;MLEAC=6;MLEAF=0.5;MQ=55.8;MQRankSum=-9.318;QD=5.13;ReadPosRankSum=-4.855;SOR=1.975	GT:AD:DP:GQ:PL	0/1:138,50:188:99:1135,0,4078	0	0	6	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	11748.5	251	chr2	95855549	.	T	C	11748.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.045;DP=1322;ExcessHet=11.5949;FS=17.003;MLEAC=6;MLEAF=0.5;MQ=44.42;MQRankSum=-8.676;QD=9.11;ReadPosRankSum=-0.118;SOR=1.519	GT:AD:DP:GQ:PL	0/1:167,112:279:99:2570,0,4672	0	0	6	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	8268.55	217	chr2	95855576	.	A	G	8268.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.158;DP=1152;ExcessHet=11.5949;FS=28.673;MLEAC=6;MLEAF=0.5;MQ=46.51;MQRankSum=-8.188;QD=7.42;ReadPosRankSum=-2.232;SOR=2.278	GT:AD:DP:GQ:PL	0/1:172,65:237:99:1853,0,5037	0	0	6	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1047.61	209	chr2	95855586	.	T	C	1047.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.15;DP=1111;ExcessHet=6.1542;FS=21.641;MLEAC=5;MLEAF=0.417;MQ=47.41;MQRankSum=-5.213;QD=1.15;ReadPosRankSum=-1.6;SOR=2.589	GT:AD:DP:GQ:PL	0/1:196,35:231:99:481,0,7961	1	0	5	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	6207.55	208	chr2	95855588	.	T	C	6207.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.403;DP=1106;ExcessHet=11.5949;FS=38.206;MLEAC=6;MLEAF=0.5;MQ=47.77;MQRankSum=-7.427;QD=5.73;ReadPosRankSum=-2.553;SOR=2.683	GT:AD:DP:GQ:PL	0/1:178,52:230:99:1397,0,5196	0	0	6	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	8297.51	109	chr2	95859969	.	A	AT	8297.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.864;DP=746;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.24;ReadPosRankSum=0.225;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,26:129:99:0|1:95859969_A_AT:774,0,4218:95859969	0	0	6	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	8294.55	109	chr2	95859970	.	G	T	8294.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.035;DP=742;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.22;ReadPosRankSum=0.118;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,26:129:99:0|1:95859969_A_AT:774,0,4218:95859969	0	0	6	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	8252.55	108	chr2	95859975	.	C	T	8252.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.016;DP=744;ExcessHet=11.5949;FS=2.673;MLEAC=6;MLEAF=0.5;MQ=58.65;MQRankSum=-7.931;QD=11.18;ReadPosRankSum=-0.019;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,25:129:99:0|1:95859969_A_AT:737,0,4245:95859969	0	0	6	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	7445.55	104	chr2	95859988	.	T	C	7445.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.378;DP=747;ExcessHet=11.5949;FS=1.934;MLEAC=6;MLEAF=0.5;MQ=58.63;MQRankSum=-8.029;QD=10.06;ReadPosRankSum=0.4;SOR=0.896	GT:AD:DP:GQ:PL	0/1:111,24:135:99:675,0,3088	0	0	6	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	5634.55	98	chr2	95860002	.	T	A	5634.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.934;DP=709;ExcessHet=11.5949;FS=2.843;MLEAC=6;MLEAF=0.5;MQ=58.62;MQRankSum=-7.188;QD=8.07;ReadPosRankSum=-0.426;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,23:121:99:0|1:95860002_T_A:671,0,3933:95860002	0	0	6	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	6525.55	97	chr2	95860007	.	A	T	6525.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.02;DP=689;ExcessHet=11.5949;FS=2.838;MLEAC=6;MLEAF=0.5;MQ=58.55;MQRankSum=-7.349;QD=9.51;ReadPosRankSum=-0.529;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,21:117:99:0|1:95860002_T_A:593,0,3866:95860002	0	0	6	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	5563.55	84	chr2	95860020	.	G	A	5563.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.329;DP=643;ExcessHet=11.5949;FS=2.962;MLEAC=6;MLEAF=0.5;MQ=58.6;MQRankSum=-7.104;QD=8.82;ReadPosRankSum=-0.538;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,17:105:99:0|1:95860020_G_A:449,0,3603:95860020	0	0	6	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	5356.55	83	chr2	95860023	.	A	C	5356.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.07;DP=627;ExcessHet=11.5949;FS=3.964;MLEAC=6;MLEAF=0.5;MQ=58.57;MQRankSum=-7.249;QD=8.57;ReadPosRankSum=-0.327;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,17:105:99:0|1:95860020_G_A:449,0,3603:95860020	0	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3318.55	67	chr2	95860046	.	C	A	3318.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.515;DP=493;ExcessHet=11.5949;FS=6.844;MLEAC=6;MLEAF=0.5;MQ=58.18;MQRankSum=-7.747;QD=6.87;ReadPosRankSum=-1.292;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,13:88:99:.:.:286,0,2226:.	0	0	6	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	3049.51	101	chr2	95927222	.	G	GAT	3049.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.34;DP=575;ExcessHet=11.5949;FS=33.996;MLEAC=6;MLEAF=0.5;MQ=54.76;MQRankSum=-7.373;QD=5.36;ReadPosRankSum=-3.339;SOR=3.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,17:105:99:0|1:95927222_G_GAT:449,0,3642:95927222	0	0	6	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	4621.51	108	chr2	95927226	.	GTT	G	4621.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.93;DP=631;ExcessHet=11.5949;FS=10.097;MLEAC=6;MLEAF=0.5;MQ=54.39;MQRankSum=-8.138;QD=7.34;ReadPosRankSum=-3.294;SOR=1.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,20:111:99:0|1:95927222_G_GAT:566,0,3759:95927222	0	0	6	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	6313.55	116	chr2	95927234	.	T	C	6313.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.561;DP=697;ExcessHet=11.5949;FS=6.255;MLEAC=6;MLEAF=0.5;MQ=54.19;MQRankSum=-8.821;QD=9.07;ReadPosRankSum=-4.26;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,29:126:99:0|1:95927222_G_GAT:926,0,3986:95927222	0	0	6	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	12404.5	149	chr2	95927252	.	A	G	12404.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.577;DP=930;ExcessHet=11.5949;FS=0.557;MLEAC=6;MLEAF=0.5;MQ=53.25;MQRankSum=-10.9;QD=13.35;ReadPosRankSum=-3.866;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,59:167:99:0|1:95927222_G_GAT:2152,0,4357:95927222	0	0	6	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	16199.5	176	chr2	95927268	.	C	A	16199.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.67;DP=1066;ExcessHet=11.5949;FS=1.787;MLEAC=6;MLEAF=0.5;MQ=52.63;MQRankSum=-11.62;QD=15.21;ReadPosRankSum=-3.648;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,70:187:99:0|1:95927222_G_GAT:2567,0,4682:95927222	0	0	6	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	16366.5	184	chr2	95927277	.	C	T	16366.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.677;DP=1111;ExcessHet=11.5949;FS=2.488;MLEAC=6;MLEAF=0.5;MQ=52.6;MQRankSum=-11.77;QD=14.95;ReadPosRankSum=-1.646;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,75:200:99:0|1:95927222_G_GAT:2651,0,4848:95927222	0	0	6	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	8094.55	110	chr2	95929092	.	T	C	8094.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.2;DP=771;ExcessHet=11.5949;FS=4.912;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=-7.583;QD=10.62;ReadPosRankSum=-2.964;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,50:163:99:0|1:95929092_T_C:1712,0,4549:95929092	0	0	6	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	10660.5	124	chr2	95929110	.	A	G	10660.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=8.51;DP=896;ExcessHet=11.5949;FS=8.404;MLEAC=6;MLEAF=0.5;MQ=45.67;MQRankSum=-7.949;QD=11.9;ReadPosRankSum=-2.216;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,66:200:99:0|1:95929092_T_C:2368,0,5417:95929092	0	0	6	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	14540.5	150	chr2	95929126	.	C	A	14540.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.89;DP=1057;ExcessHet=11.5949;FS=15.195;MLEAC=6;MLEAF=0.5;MQ=44.37;MQRankSum=-8.825;QD=13.76;ReadPosRankSum=-2.151;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,85:229:99:0|1:95929092_T_C:3136,0,5791:95929092	0	0	6	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	15558.5	155	chr2	95929130	.	G	C	15558.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=4.1;DP=1091;ExcessHet=11.5949;FS=15.27;MLEAC=6;MLEAF=0.5;MQ=44;MQRankSum=-8.641;QD=14.26;ReadPosRankSum=-1.702;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,93:236:99:0|1:95929092_T_C:3475,0,5725:95929092	0	0	6	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	15783.5	159	chr2	95929135	.	C	T	15783.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.75;DP=1140;ExcessHet=11.5949;FS=16.95;MLEAC=6;MLEAF=0.5;MQ=43.55;MQRankSum=-8.589;QD=14.26;ReadPosRankSum=-1.773;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,92:235:99:0|1:95929092_T_C:3433,0,5728:95929092	0	0	6	0
chr2	96842402	96842402	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon2:c.G137A:p.R46Q	.	375	1121	24	2	0	28	0.0123348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0136136329658	0.0044	0.00319489	0.0043	0.0018	0.0029	0.0016	0.0005	0.0052	0.0033	0.0064	0.0010673	165	154602	rs143372458	0.0053	0.0053	0.0052	0.0055	0.0336	0.0052	0.0052	0.0298	0.0283	0.0034	0.0040	0.0056	0.0012	0.0009	0.0336	0.0055	0.0061	0.0065	0.0047	0.0047	0.0049	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0015	0.0351	0.0035	0.0058	0.0014	0.0005	0.0442	0.0071	0.0062	0.0052	0.298	0.14894	T	0.508	0.10893	T	0.003	0.11197	B	0.001	0.04355	B	0.866014	0.08859	N	0.907894	0.999879	0.19925	N	1.525	0.38595	L	-0.29	0.67712	T	0.28	0.05503	N	0.113	0.21449	-1.0743	0.08493	T	0.079	0.31466	T	10	0.004486352	0.00092	T	0.013614	0.33144	T	0.033	0.08068	.	.	0.384252928164	0.38032	0.11811522296144829	0.11738	0.174969425487	0.19695	0.191902413964	0.00260	T	0.011947	0.10582	T	-0.598926	0.00148	T	-0.630342	0.10389	T	0.00180462947194861	0.00018	T	0.49795	0.15494	T	0.025929948	0.01587	0.0338767	0.02356	0.025929948	0.01586	0.0338767	0.02356	-2.884	0.12776	T	.	.	0.093	0.15115	B	.;.;.	.;.;.	-0.280197	0.02706	0.354	0.82545391951555647	0.14248	0.03294	0.08346	N	AEFBCI	0.036542	0.04886	N	-1.64690095529547	0.01048	0.04547421	-1.63492810835428	0.01456	0.0658473	0.999567174860757	0.40425	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.07	-6.83	0.01532	-1.346000	0.02741	-3.498000	0.02741	-1.699000	0.00759	0.090000	0.22578	0.000000	0.08366	0.103000	0.18424	0.2379:0.1705:0.0:0.5916	6.77	0.22775	120	0.95183	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023666	0.015152	0.027174	0.043860	0.000000	0.034483	0.009146	0.015152	0.08333	1086.83	35	chr2	96842402	.	C	T	1086.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.27;DP=246;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=0.864;SOR=0.864	GT:AD:DP:GQ:PL	0/1:26,39:65:99:1097,0,640	5	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	766.45	93	chr2	97185336	.	GC	G	766.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.258;DP=590;ExcessHet=6.1542;FS=0.964;MLEAC=5;MLEAF=0.417;MQ=47.56;MQRankSum=-4.107;QD=1.48;ReadPosRankSum=0.998;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,8:114:17:0|1:97185336_GC_G:17,0,4419:97185336	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	730.37	96	chr2	97185340	.	C	G	730.37	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.81;DP=599;ExcessHet=6.1542;FS=0.957;MLEAC=5;MLEAF=0.417;MQ=47.3;MQRankSum=-4.03;QD=1.38;ReadPosRankSum=1.34;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,8:116:11:0|1:97185336_GC_G:11,0,4503:97185336	1	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	727.31	96	chr2	97185341	.	A	AG	727.31	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.116;DP=602;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=47.2;MQRankSum=-3.997;QD=1.37;ReadPosRankSum=1.51;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,8:116:11:0|1:97185336_GC_G:11,0,4503:97185336	1	0	5	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	696.25	102	chr2	97185345	.	GTAAT	G	696.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.582;DP=635;ExcessHet=3.1439;FS=0.93;MLEAC=4;MLEAF=0.333;MQ=46.41;MQRankSum=-3.55;QD=1.71;ReadPosRankSum=2.06;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,8:116:11:0|1:97185336_GC_G:11,0,4483:97185336	2	0	4	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	9810.55	118	chr2	97513220	.	G	A	9810.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.994;DP=745;ExcessHet=11.5949;FS=2.663;MLEAC=6;MLEAF=0.5;MQ=35.14;MQRankSum=-2.353;QD=13.17;ReadPosRankSum=-0.246;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,60:117:99:0|1:97513219_T_C:2348,0,2213:97513219	0	0	6	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	10342.5	125	chr2	97513227	.	T	C	10342.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.043;DP=792;ExcessHet=11.5949;FS=2.655;MLEAC=6;MLEAF=0.5;MQ=35.39;MQRankSum=-2.431;QD=13.28;ReadPosRankSum=0.888;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,63:122:99:0|1:97513219_T_C:2468,0,2288:97513219	0	0	6	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	12318.5	148	chr2	97513244	.	G	T	12318.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.163;DP=888;ExcessHet=11.5949;FS=3.359;MLEAC=6;MLEAF=0.5;MQ=35.84;MQRankSum=-2.194;QD=13.95;ReadPosRankSum=0.469;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,73:139:99:0|1:97513244_G_T:2865,0,2531:97513244	0	0	6	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	12785.5	154	chr2	97513253	.	A	G	12785.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=917;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.04;MQRankSum=-2.041;QD=14.11;ReadPosRankSum=0.963;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,73:139:99:0|1:97513244_G_T:2865,0,2552:97513244	0	0	6	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	12794.5	151	chr2	97513254	.	C	T	12794.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.061;DP=916;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.03;MQRankSum=-2.041;QD=14.17;ReadPosRankSum=0.806;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,73:139:99:0|1:97513244_G_T:2865,0,2552:97513244	0	0	6	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	14088.5	157	chr2	97513268	.	C	T	14088.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.1;DP=942;ExcessHet=11.5949;FS=3.264;MLEAC=6;MLEAF=0.5;MQ=36.45;MQRankSum=-2.206;QD=15.02;ReadPosRankSum=1.17;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,78:139:99:0|1:97513268_C_T:3092,0,2306:97513268	0	0	6	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	14249.5	157	chr2	97513270	.	A	C	14249.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.475;DP=947;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.52;MQRankSum=-2.055;QD=15.05;ReadPosRankSum=1.31;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,79:140:99:0|1:97513268_C_T:3118,0,2303:97513268	0	0	6	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	14309.5	157	chr2	97513271	.	T	C	14309.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.436;DP=952;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.56;MQRankSum=-2.055;QD=15.03;ReadPosRankSum=1.29;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,80:141:99:0|1:97513268_C_T:3140,0,2300:97513268	0	0	6	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	14586.5	162	chr2	97513281	.	C	T	14586.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.802;DP=963;ExcessHet=11.5949;FS=3.276;MLEAC=6;MLEAF=0.5;MQ=36.9;MQRankSum=-2.365;QD=15.27;ReadPosRankSum=-0.166;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,83:142:99:0|1:97513268_C_T:3211,0,2207:97513268	0	0	6	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	4293.55	98	chr2	97513354	.	T	C	4293.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=555;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=39.07;MQRankSum=-2.623;QD=7.95;ReadPosRankSum=0.805;SOR=0.714	GT:AD:DP:GQ:PL	0/1:43,36:79:99:881,0,1029	0	0	6	0
chr2	106433255	106433255	T	C	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon16:c.A2236G:p.M746V	.	141	1380	1	0	0	1	0.000362188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00350603925636	.	.	2.55e-05	0	0	0	0.0002	1.542e-05	0.0011	0	3.84e-05	1	26028	rs766227403	2.192e-05	2.326e-05	1.636e-05	2.754e-05	0.0005	1.587e-05	1.358e-05	8.516e-05	3.547e-05	2.994e-05	0	0	0	0	0.0005	1.709e-05	4.983e-05	8.124e-05	1.978e-05	2.627e-05	0	4.052e-05	2.943e-05	5.26e-06	2.46e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.943e-05	0	0	0.162	0.23541	T	0.198	0.38450	T	0.458	0.36312	P	0.292	0.40739	B	.	.	.	.	0.990152	0.24207	N	2.22	0.62911	M	2.06	0.20523	T	-2.03	0.46673	N	0.276	0.36043	-1.0469	0.15274	T	0.059	0.24908	T	9	0.1893405	0.34530	T	0.003506	0.07939	T	0.045	0.12272	0.3	0.26683	0.0401082797425	0.02173	0.10693905075102678	0.10623	.	.	0.572060823441	0.48970	T	0.009466	0.08620	T	-0.167196	0.25659	T	-0.477942	0.24667	T	0.0918449951734098	0.11435	T	0.819518	0.47762	T	0.13019264	0.30385	0.23052332	0.48157	0.13019264	0.30384	0.23052332	0.48156	-7.687	0.58917	D	.	.	0.190	0.43828	B	.;.	.;.	2.415928	0.31060	18.63	0.87641636841824277	0.17375	0.79225	0.39218	D	AEFI	0.370077	0.45658	N	-0.213081733386461	0.32596	1.840008	-0.260284264624391	0.29418	1.648041	1.75990261813186E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.34	2.34	0.28071	2.525000	0.45258	5.090000	0.47345	0.304000	0.19002	0.996000	0.39380	1.000000	0.68203	0.172000	0.21044	0.0:0.0:0.0:1.0	8.234	0.30774	907	0.22727	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1120.06	48	chr2	106433255	.	T	C	1120.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.57;DP=499;ExcessHet=0.4139;FS=3.815;MLEAC=2;MLEAF=0.167;MQ=41.09;MQRankSum=-0.942;QD=4.32;ReadPosRankSum=0.556;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,30:137:99:0|1:106433255_T_C:641,0,3946:106433255	4	0	2	0
chr2	106490937	106490937	T	C	exonic	CD8B2	.	nonsynonymous SNV	CD8B2:NM_001349727:exon2:c.T107C:p.M36T,CD8B2:NM_001368307:exon2:c.T107C:p.M36T	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0001164	18	154602	rs533493720	0.0015	0.0015	0.0014	0.0015	0.0043	0.0014	0.0014	0.0030	0.0026	0.0011	0.0013	0.0002	2.519e-05	1.873e-05	0.0043	0.0015	0.0013	0.0025	0.0010	0.0010	0.0011	0.0010	0.0017	0.0009	0.0009	0.0012	0.0011	0.0008	0	0.0008	0.0003	0	0	0.0034	0.0014	0.0028	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011199117	0.00246	T	.	.	.	.	.	.	.	.	.	0.099388158447209	0.09869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460054	0.13307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.;.	.;.	-3.164717	0.00007	0.001	0.60973766807697649	0.06594	0.00135	0.00831	N	AEFGI	.	.	.	.	.	.	.	.	.	3.1793448261721E-5	0.03775	0.080785	0.02172	0	0.085267	0.02369	0	0.121075	0.03231	0	0.050693	0.00103	0	0.0579845	0.13864	3.44	-3.97	0.03821	-7.065000	0.00057	-14.449000	0.00403	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1754:0.5598:0.0:0.2648	4.137	0.09642	843	0.36859	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2166.06	35	chr2	106490937	.	T	C	2166.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.01;DP=320;ExcessHet=0.4139;FS=2.191;MLEAC=2;MLEAF=0.167;MQ=56.93;MQRankSum=-0.09;QD=12.67;ReadPosRankSum=0.48;SOR=0.945	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1415,0,1015	4	0	2	0
chr2	108247205	108247205	T	C	exonic	SULT1C3	.	nonsynonymous SNV	SULT1C3:NM_001008743:exon2:c.T11C:p.I4T,SULT1C3:NM_001320878:exon2:c.T11C:p.I4T	.	439	1060	21	2	0	25	0.011655	.	.	.	2215923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00154417805914	0.0019	0.000599042	0.0014	0.0002	0.0008	0	0	0.0018	0	0.0022	0.001423	220	154602	rs145344319	0.0018	0.0018	0.0017	0.0018	0.0041	0.0017	0.0017	0.0027	0.0023	0.0003	0.0014	0.0022	5.329e-05	7.859e-05	0.0041	0.0019	0.0025	0.0021	0.0012	0.0012	0.0012	0.0012	0.0029	0.0011	0.0010	0.0018	0.0015	0.0005	0	0.0008	0.0009	0	0	0.0034	0.0019	0.0024	0.0029	0.251	0.17069	T	0.34	0.18018	T	0.0	0.02946	B	0.0	0.01387	B	0.001889	0.00837	N	13.828700	1	0.08975	N	0	0.06538	N	4.78	0.01551	T	-0.4	0.13805	N	0.037	0.01135	-0.9156	0.46142	T	0.003	0.01059	T	10	0.0070406795	0.00160	T	0.001544	0.02420	T	0.023	0.04649	.	.	0.146414634003	0.14194	0.2950949393018245	0.29422	0.0705022220903	0.07900	0.46228787303	0.33624	T	0.001542	0.00986	T	-0.694049	0.00040	T	-0.774657	0.02618	T	0.00395966875437523	0.00042	T	0.328667	0.06851	T	0.030933708	0.02843	0.038975026	0.03885	0.030933708	0.02842	0.038975026	0.03885	-2.529	0.05983	T	.	.	0.061	0.01059	B	.	.	-0.881287	0.00957	0.037	0.49644701866555579	0.04246	0.00727	0.03054	N	AEFBI	0.041655	0.06360	N	-1.97817681628281	0.00236	0.01009899	-2.05030213229017	0.00239	0.01052244	1.60551189643201E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-5.38	0.02465	-0.421000	0.07118	-0.041000	0.12668	-2.054000	0.00416	0.028000	0.20300	0.002000	0.18203	0.000000	0.00833	0.4973:0.2377:0.0:0.265	3.181	0.06192	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.003788	0.08333	961.83	31	chr2	108247205	.	T	C	961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.551;DP=188;ExcessHet=0;FS=2.98;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=-0.94;SOR=0.299	GT:AD:DP:GQ:PL	0/1:18,35:53:99:972,0,464	5	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	3439.8	135	chr2	108259015	.	G	*	3439.8	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.037;DP=785;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=-0.243;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,151:151:99:.:.:6804,459,0:.	2	3	1	0
chr2	110963643	110963643	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001371254:exon13:c.G1079A:p.R360Q	.	442	1059	21	0	0	21	0.00981767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0508755829006	0.0015	0.000599042	0.0040	0.0002	0.0009	0	0.0062	0.0043	0.0055	0.0085	0.0035252	545	154602	rs139505303	0.0026	0.0026	0.0023	0.0029	0.0084	0.0026	0.0025	0.0079	0.0077	0.0002	0.0010	0.0298	0.0001	0.0074	0.0061	0.0015	0.0042	0.0084	0.0027	0.0027	0.0027	0.0028	0.0082	0.0025	0.0024	0.0061	0.0054	0.0005	0	0.0010	0.0277	0.0002	0.0061	0	0.0025	0.0047	0.0082	0.006	0.61437	D	0.168	0.30631	T	0.956	0.54666	P	0.727	0.55167	P	0.000411	0.44736	N	0.090426	0.999637	0.47961	D	.	.	.	-0.49	0.70365	T	-2.67	0.57110	D	0.393	0.43417	-0.5241	0.67763	T	0.353	0.71658	T	9	0.01575613	0.00331	T	0.050876	0.64425	D	0.424	0.73226	.	.	0.711869458959	0.70935	.	.	.	.	.	.	.	0.319685	0.69095	T	-0.430201	0.01478	T	-0.38504	0.35133	T	0.0545219980913479	0.06277	T	0.733627	0.34942	T	0.14852482	0.33903	0.17239508	0.39491	0.14852482	0.33903	0.17239508	0.39490	-10.485	0.76761	D	.	.	0.152	0.33687	B	.	.	1.055996	0.14373	10.95	0.99910469386507339	0.98022	0.36896	0.25638	N	AEFBI	0.074308	0.14891	N	-0.0684011976285561	0.38785	2.276946	-0.105230951388771	0.35180	2.032186	0.682221993288881	0.22493	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.5	3.71	0.41733	0.981000	0.29124	0.069000	0.14235	-0.716000	0.03877	0.710000	0.28722	0.000000	0.08366	0.599000	0.31363	0.1615:0.0:0.8385:0.0	10.345	0.43086	699	0.57969	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1739.06	37	chr2	110963643	.	G	A	1739.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.15;DP=319;ExcessHet=0.4139;FS=14.395;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.149;SOR=1.403	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1199,0,823	4	0	2	0
chr2	130464114	130464114	A	C	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.T1930G:p.F644V,POTEI:NM_001371926:exon17:c.T1996G:p.F666V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00232069940374	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2599800	4.455e-05	0.0004	1.836e-05	7.291e-05	0.0003	2.682e-05	2.119e-05	4.65e-05	1.922e-05	0	0.0002	0.0002	0	0	0	3.805e-05	0	0.0003	0	0.0017	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	0.22	0.18956	T	0.387	0.15650	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.94	0.75325	T	-0.01	0.07155	N	0.061	0.03283	-0.9596	0.39255	T	0.154	0.48360	T	7	0.048131645	0.04222	T	0.002321	0.04479	T	0.056	0.15993	.	.	0.0986583533028	0.09354	0.003623338190744416	0.00339	.	.	0.664063692093	0.61989	T	0.014274	0.12184	T	-0.2376	0.15655	T	-0.579072	0.14628	T	0.0279980392384522	0.01689	T	0.060394	0.00440	T	0.049516708	0.08803	0.054108556	0.09244	0.049516708	0.08802	0.054108556	0.09243	-4.663	0.32953	T	.	.	0.083	0.09336	B	.	.	0.545493	0.09141	5.924	0.42561007843572135	0.03146	0.01204	0.04289	N	AEFI	.	.	.	-1.15527644688267	0.05694	0.2602254	-1.30336887273633	0.04386	0.2067916	1.22258822440698E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.108000	0.10827	.	.	-0.656000	0.04369	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2281:0.0:0.4576:0.3143	1.921	0.03106	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6667	285.38	.	chr2	130464114	.	A	C	285.38	.	AC=4;AF=0.667;AN=6;DP=23;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=29.82;QD=28.54;SOR=4.804	GT:AD:DP:GQ:PL	1/1:0,6:6:18:179,18,0	1	2	0	3
chr2	159748770	159748770	A	G	exonic	MARCHF7	.	nonsynonymous SNV	MARCHF7:NM_001376251:exon3:c.A1093G:p.S365G,MARCHF7:NM_001376254:exon3:c.A1093G:p.S365G,MARCHF7:NM_001376255:exon3:c.A910G:p.S304G,MARCHF7:NM_001282806:exon4:c.A1312G:p.S438G,MARCHF7:NM_001282807:exon4:c.A1366G:p.S456G,MARCHF7:NM_001376247:exon4:c.A1312G:p.S438G,MARCHF7:NM_001376248:exon4:c.A1312G:p.S438G,MARCHF7:NM_001376249:exon4:c.A1093G:p.S365G,MARCHF7:NM_001376250:exon4:c.A1093G:p.S365G,MARCHF7:NM_001376252:exon4:c.A1093G:p.S365G,MARCHF7:NM_001376253:exon4:c.A1093G:p.S365G,MARCHF7:NM_001376240:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376242:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376243:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376244:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376245:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376246:exon5:c.A1411G:p.S471G,MARCHF7:NM_022826:exon5:c.A1480G:p.S494G,MARCHF7:NM_001376234:exon6:c.A1480G:p.S494G,MARCHF7:NM_001376237:exon6:c.A1480G:p.S494G,MARCHF7:NM_001376238:exon6:c.A1480G:p.S494G,MARCHF7:NM_001376239:exon6:c.A1480G:p.S494G,MARCHF7:NM_001376241:exon6:c.A1480G:p.S494G,MARCHF7:NM_001282805:exon7:c.A1480G:p.S494G,MARCHF7:NM_001376235:exon7:c.A1480G:p.S494G,MARCHF7:NM_001376236:exon7:c.A1480G:p.S494G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00647606055179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.008	0.67890	D	0.231	0.30614	B	0.118	0.32088	B	0.001895	0.37740	N	0.337088	0.993389	0.41923	D	1.59	0.40313	L	2.56	0.13916	T	-1.03	0.30555	N	0.291	0.37301	-1.1352	0.01549	T	0.045	0.19478	T	10	0.2163513	0.38215	T	0.006476	0.17043	T	0.054	0.15330	0.284	0.24121	0.221890330934	0.21812	0.23799956940729441	0.23713	0.0384918071318	0.04097	0.353240847588	0.18398	T	0.025218	0.55714	T	-0.201527	0.20586	T	-0.527256	0.19561	T	0.5117990737276	0.33064	D	0.905309	0.66640	D	0.09771418	0.23037	0.09896257	0.23611	0.09771418	0.23037	0.09896257	0.23610	-3.252	0.13126	T	.	.	0.071	0.04396	B	.;.;.;.	.;.;.;.	3.165896	0.42909	21.6	0.99575012275894126	0.72621	0.98912	0.88526	D	AEFBI	0.669227	0.63673	D	0.133925141022028	0.48050	3.022448	0.279944700117393	0.54371	3.602154	0.99999999561193	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	5.109000	0.64456	8.068000	0.76428	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	1.0:0.0:0.0:0.0	16.120	0.81152	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	.	.	.	.	.	.	.	.	0.08333	805.83	41	chr2	159748770	.	A	G	805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.83;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-0.391;SOR=0.717	GT:AD:DP:GQ:PL	0/1:59,33:92:99:816,0,1653	5	0	1	0
chr2	164937402	164937402	T	C	exonic	SLC38A11	.	nonsynonymous SNV	SLC38A11:NM_001351539:exon4:c.A199G:p.T67A,SLC38A11:NM_173512:exon5:c.A331G:p.T111A,SLC38A11:NM_001199148:exon6:c.A397G:p.T133A,SLC38A11:NM_001351537:exon7:c.A565G:p.T189A,SLC38A11:NM_001351538:exon8:c.A397G:p.T133A	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	7.7e-05	0.0109824	0.0029	0	0.0002	0.0232	0	1.503e-05	0	0.0092	0.0027878	431	154602	rs77858556	0.0024	0.0024	0.0022	0.0026	0.0645	0.0023	0.0023	0.0625	0.0616	2.995e-05	0.0002	0	0.0645	0	0.0010	1.892e-05	0.0020	0.0083	0.0016	0.0016	0.0013	0.0019	0.0369	0.0015	0.0014	0.0326	0.0310	7.223e-05	0	0.0004	0	0.0369	0	0	1.47e-05	0	0.0099	1.0	0.05501	T	0.593	0.08134	T	0.0	0.02946	B	0.002	0.10090	B	0.823651	0.09159	N	0.931910	0.999984	0.18198	N	-0.315	0.03579	N	4.51	0.02015	T	0.03	0.13035	N	0.186	0.20262	-0.9112	0.46707	T	0.001	0.00222	T	10	0.0044716895	0.00092	T	.	.	.	0.044	0.11924	.	.	0.0138822411134	0.00435	0.31614972177139683	0.31527	0.0951305488182	0.10736	0.324859380722	0.14156	T	0.002227	0.01623	T	-0.671223	0.00054	T	-0.650089	0.08948	T	0.00378350674727448	0.00040	T	0.484552	0.16117	T	0.05130575	0.09403	0.04003212	0.04233	0.05130575	0.09403	0.04003212	0.04233	-2.379	0.05006	T	.	.	0.062	0.01252	B	.;.;.;.;.	.;.;.;.;.	0.062988	0.04735	1.363	0.52168828235776088	0.04697	0.05407	0.11276	N	AEFGBCI	0.069747	0.13818	N	-1.10198935482598	0.06608	0.3046604	-0.990372118202781	0.10001	0.5009656	0.995262179049995	0.34034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	-0.571	0.11161	-0.310000	0.08175	-0.223000	0.10745	-1.009000	0.01772	0.097000	0.22731	0.000000	0.08366	0.805000	0.37950	0.1359:0.418:0.0:0.4461	5.679	0.17036	776	0.48302	.;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.08333	1056.83	33	chr2	164937402	.	T	C	1056.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=255;ExcessHet=0;FS=3.218;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.16;SOR=1.167	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1067,0,928	5	0	1	0
chr2	178527550	178527550	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon190:c.T80381C:p.M26794T,TTN:NM_133432:exon191:c.T80756C:p.M26919T,TTN:NM_133437:exon191:c.T80957C:p.M26986T,TTN:NM_133378:exon311:c.T99872C:p.M33291T,TTN:NM_001256850:exon312:c.T102653C:p.M34218T,TTN:NM_001267550:exon362:c.T107576C:p.M35859T	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	1491	30	0	0	30	0.00996016	.	.	YES	56884	Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|TTN-related_disorder|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|.|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.398	.	0.0011	0.00219649	0.0022	0.0002	0.0003	0	0.0002	0.0016	0.0044	0.0093	0.0019987	309	154602	rs72629793	0.0013	0.0013	0.0010	0.0016	0.0099	0.0013	0.0012	0.0094	0.0092	0.0002	0.0002	0.0090	0.0002	5.618e-05	0.0064	0.0006	0.0022	0.0099	0.0010	0.0010	0.0008	0.0011	0.0112	0.0009	0.0008	0.0088	0.0080	7.213e-05	0	0	0.0089	0.0004	0	0	0.0008	0.0014	0.0112	0.009	0.58626	D	.	.	.	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.820675	0.35804	D	0.55	0.14455	N	-0.1	0.64264	T	-2.73	0.58085	D	0.729	0.76946	-0.8893	0.48995	T	0.141	0.46072	T	9	0.00726828	0.00165	T	.	.	.	0.398	0.71242	.	.	0.615614480955	0.61251	.	.	0.0968877573739	0.10942	0.604412436485	0.53527	T	.	.	.	-0.144099	0.29240	T	0.0266331	0.72058	D	0.0309438198874612	0.02137	T	0.664234	0.27311	T	.	.	.	.	.	.	.	.	-4.129	0.25716	T	.	.	0.436	0.61490	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.207637	0.28159	17.71	0.83464716704103281	0.14740	0.94805	0.62390	D	AEFDBCI	0.834171	0.75226	D	-0.273761059275001	0.30164	1.679445	-0.0634768986456481	0.36913	2.154379	0.999999989243797	0.74766	0.554377	0.28877	0	0.516746	0.08562	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.77	4.62	0.56946	5.583000	0.67179	.	.	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9261:0.0:0.0739:0.0	10.371	0.43238	348	0.85549	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.000000	0.000000	0.000000	0.015244	0.007576	0.08333	1736.83	33	chr2	178527550	.	A	G	1736.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.628;DP=319;ExcessHet=0;FS=1.316;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.078;SOR=0.576	GT:AD:DP:GQ:PL	0/1:74,71:145:99:1747,0,2135	5	0	1	0
chr2	178531191	178531191	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G78229A:p.E26077K,TTN:NM_133432:exon187:c.G78604A:p.E26202K,TTN:NM_133437:exon187:c.G78805A:p.E26269K,TTN:NM_133378:exon307:c.G97720A:p.E32574K,TTN:NM_001256850:exon308:c.G100501A:p.E33501K,TTN:NM_001267550:exon358:c.G105424A:p.E35142K	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	1521	1	0	0	1	0.000328623	.	.	YES	655179	not_provided|not_specified|Cardiomyopathy	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.405	0.0213646548041	.	.	4.968e-05	0	0	0	0	7.492e-05	0	6.056e-05	3.88e-05	6	154602	rs765274398	2.189e-05	2.189e-05	2.45e-05	1.925e-05	0.0002	1.584e-05	1.356e-05	1.627e-05	1.382e-05	2.987e-05	0	0	0	0	0.0002	2.338e-05	1.656e-05	3.478e-05	4.6e-05	4.597e-05	7.708e-05	1.345e-05	0.0001	2.11e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	0.015	0.52492	D	.	.	.	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999999	0.81001	D	2.035	0.55589	M	0.81	0.48460	T	-2.93	0.61284	D	0.523	0.78641	-0.4632	0.69961	T	0.293	0.66470	T	9	0.4202005	0.56812	T	0.021365	0.44128	T	0.405	0.71791	0.7	0.83684	0.304435445954	0.30045	.	.	0.489131336793	0.47684	0.605935931206	0.53742	T	.	.	.	-0.154445	0.27618	T	-0.278098	0.46998	T	0.364415984976255	0.27581	T	0.969903	0.89155	D	.	.	.	.	.	.	.	.	-6.544	0.50625	T	.	.	0.3	0.52985	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.672559	0.34844	19.74	0.96266567924817903	0.29234	0.96561	0.69756	D	AEFGBHCI	0.855792	0.77294	D	0.666093363582971	0.77414	6.67007	0.622979332758715	0.76612	6.52327	1.0	0.98316	0.554377	0.28877	0	0.484254	0.07192	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.1	5.1	0.68917	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:1.0:0.0:0.0	18.501	0.90831	364	0.84707	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4778.06	93	chr2	178531191	.	C	T	4778.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.32;DP=567;ExcessHet=0.4139;FS=4.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.91;SOR=0.923	GT:AD:DP:GQ:PL	0/1:101,98:199:99:2585,0,2546	4	0	2	0
chr2	178734746	178734746	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon48:c.G11446C:p.V3816L,TTN:NM_001256850:exon49:c.G14227C:p.V4743L,TTN:NM_001267550:exon51:c.G15178C:p.V5060L	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	1485	34	3	0	40	0.013289	.	.	.	55764	Supraventricular_tachycardia|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tip-toe_gait|TTN-related_myopathy|Cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0100175,MedGen:CN294812|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	.	0.0028	0.00339457	0.0035	0.0003	0.0006	0	0.0014	0.0039	0.0045	0.0086	0.0034864	539	154602	rs72648929	0.0033	0.0033	0.0031	0.0034	0.0099	0.0032	0.0032	0.0079	0.0077	0.0005	0.0007	0.0097	0.0001	0.0013	0.0099	0.0031	0.0032	0.0084	0.0024	0.0023	0.0022	0.0026	0.0089	0.0022	0.0021	0.0068	0.0061	0.0004	0	0.0006	0.0095	0.0004	0.0019	0	0.0034	0.0024	0.0089	0.586	0.05881	T	.	.	.	0.708	0.42036	P	0.387	0.44046	B	.	.	.	.	0.878587	0.81001	D	.	.	.	-0.26	0.67187	T	-1.27	0.31981	N	0.152	0.18920	-0.5974	0.64923	T	0.234	0.60112	T	9	0.0074189305	0.00169	T	.	.	.	0.236	0.53931	.	.	0.366085729538	0.36220	.	.	0.193963078417	0.21732	0.489897310734	0.37424	T	.	.	.	-0.406531	0.02097	T	-0.351743	0.39005	T	0.0429511013410394	0.04229	T	0.818618	0.50455	T	.	.	.	.	.	.	.	.	-4.406	0.29921	T	.	.	0.395	0.59302	A	.;.;.;.	.;.;.;.	2.461362	0.31708	18.82	0.45163212625536364	0.03525	0.98803	0.87055	D	AEFBI	0.817956	0.73932	D	0.12769802415775	0.47759	2.997087	0.163325034344203	0.47853	3.009335	0.999999999999971	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	6.166000	0.71739	.	.	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.332000	0.25247	0.0:1.0:0.0:0.0	19.757	0.96293	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	9943.83	33	chr2	178734746	.	C	G	9943.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.14;DP=914;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.067;SOR=0.72	GT:AD:DP:GQ:PL	0/1:352,375:727:99:9954,0,8678	5	0	1	0
chr2	185802105	185802105	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.G12799A:p.V4267I	.	.	.	.	.	.	.	.	.	.	.	4137678	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0127815237244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.05755	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.95	0.43279	T	-0.58	0.17417	N	0.04	0.01347	-1.0060	0.28156	T	0.038	0.16246	T	7	0.03970188	0.02481	T	0.012782	0.31649	T	0.028	0.06331	.	.	0.0551355673512	0.04727	0.021104303109502336	0.02063	.	.	0.257732331753	0.04624	T	0.002051	0.01461	T	-0.37584	0.03309	T	-0.777645	0.02526	T	0.0219465327461003	0.00902	T	0.351165	0.07832	T	0.026281495	0.01667	0.033339437	0.02213	0.026281495	0.01666	0.033339437	0.02213	-2.998	0.10159	T	.	.	0.084	0.09820	B	.	.	-0.151538	0.03345	0.591	0.63219652101690782	0.07166	0.01341	0.04611	N	AEFI	.	.	.	-1.13230773207518	0.06076	0.2787387	-1.21246573224941	0.05709	0.2727758	1.95757293195217E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	-1.12	0.09306	0.128000	0.15636	0.215000	0.16006	-0.227000	0.07798	0.006000	0.17386	0.000000	0.08366	0.346000	0.25568	0.6057:0.1777:0.2166:0.0	4.994	0.13573	731	0.54177	Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3585.06	77	chr2	185802105	.	G	A	3585.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.588;DP=561;ExcessHet=0.4139;FS=7.737;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.47;SOR=0.673	GT:AD:DP:GQ:PL	0/1:101,72:173:99:1770,0,2660	4	0	2	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	412.91	.	chr2	186504215	.	G	A	412.91	.	AC=3;AF=0.375;AN=8;BaseQRankSum=1.72;DP=269;ExcessHet=4.1913;FS=98.8;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.31;SOR=7.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,25:62:99:.:.:134,0,316:.	1	0	3	2
chr2	195754381	195754381	T	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon63:c.A11720G:p.Y3907C	.	430	1089	3	0	0	3	0.00137552	.	.	.	719495	DNAH7-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0106761640167	0.0060	0.00159744	0.0047	0.0010	0.0027	0.0001	0.0005	0.0074	0.0022	0.0012	0.0048576	751	154602	rs78583300	0.0071	0.0071	0.0071	0.0070	0.0086	0.0070	0.0069	0.0084	0.0084	0.0009	0.0035	0.0056	2.519e-05	0.0008	0.0038	0.0086	0.0054	0.0012	0.0048	0.0048	0.0051	0.0046	0.0080	0.0045	0.0044	0.0074	0.0072	0.0018	0.0011	0.0052	0.0046	0.0002	0.0008	0.0034	0.0080	0.0047	0.0004	0.001	0.78490	D	0.019	0.59159	D	0.996	0.68779	D	0.976	0.73562	D	0.000008	0.62929	D	0.063405	0.999979	0.53665	D	1.16	0.29674	L	3.1	0.08283	T	-6.82	0.92980	D	0.689	0.74826	-1.1653	0.00635	T	0.032	0.13635	T	10	0.01423794	0.00300	T	0.010676	0.27493	T	0.151	0.39764	.	.	0.495706241231	0.49207	0.7360897334927505	0.73553	0.244017115261	0.26914	0.666697025299	0.62366	T	0.046358	0.27401	T	-0.368827	0.03653	T	-0.294609	0.45291	T	0.0522586819699049	0.05892	T	0.963604	0.88895	D	0.56590676	0.70835	0.63134664	0.78493	0.52081996	0.68308	0.6452754	0.79263	-7.398	0.61560	T	.	.	0.177	0.38693	B	.;.	.;.	4.244275	0.64379	24.7	0.99823895470292179	0.90677	0.97528	0.75337	D	AEFGI	0.818813	0.73998	D	0.589436033559648	0.72514	5.817856	0.60441171798465	0.75261	6.279162	0.756387089018984	0.23440	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	3.411000	0.52425	4.132000	0.42036	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1422:0.0:0.0:0.8578	10.719	0.45226	929	0.16858	.;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.1667	1935.06	33	chr2	195754381	.	T	C	1935.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.735;DP=288;ExcessHet=0.4139;FS=0.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.12;SOR=0.603	GT:AD:DP:GQ:PL	0/1:46,35:81:99:909,0,1230	4	0	2	0
chr2	206663253	206663253	-	CC	exonic	DYTN	.	frameshift insertion	DYTN:NM_001093730:exon11:c.1282_1283insGG:p.E428Gfs*61	.	426	1072	21	3	0	27	0.0124367	.	.	.	576096	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	0.0021	0.00339457	0.0042	0.0003	0.0015	0	0.0009	0.0030	0.0045	0.0167	0.0004226	11	26028	rs534558800	0.0035	0.0035	0.0030	0.0040	0.0180	0.0034	0.0034	0.0173	0.0170	0.0002	0.0010	0.0084	2.519e-05	0.0022	0.0049	0.0026	0.0032	0.0180	0.0024	0.0024	0.0023	0.0024	0.0180	0.0022	0.0021	0.0150	0.0139	0.0006	0	0.0006	0.0052	0	0.0014	0	0.0030	0.0028	0.0180	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.015152	0.08333	1720.79	34	chr2	206663253	.	T	TCC	1720.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.258;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=1.11;SOR=0.731	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1731,0,1912	5	0	1	0
chr2	217836106	217836106	G	A	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon17:c.C2738T:p.P913L,TNS1:NM_001308023:exon18:c.C2738T:p.P913L,TNS1:NM_022648:exon18:c.C2738T:p.P913L	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.0832875474186	0.0003	0.00139776	0.0008	0	8.639e-05	0	0	0.0002	0.0022	0.0049	0.000718	111	154602	rs141836163	0.0004	0.0004	0.0002	0.0006	0.0051	0.0004	0.0004	0.0047	0.0045	0	6.709e-05	0	2.519e-05	1.872e-05	0.0030	9.982e-05	0.0006	0.0051	0.0003	0.0003	0.0002	0.0003	0.0058	0.0002	0.0002	0.0041	0.0036	0	0	0	0	0	0	0	0.0002	0.0005	0.0058	0.011	0.72154	D	0.677	0.12632	T	0.963	0.62824	D	0.635	0.55764	P	0.000147	0.49130	D	0.180261	0.999992	0.58761	D	2.045	0.56016	M	-2.82	0.91192	D	-3.71	0.70674	D	0.665	0.67391	0.452	0.89864	D	0.671	0.88606	D	10	0.009260535	0.00209	T	0.083288	0.74084	D	0.458	0.75619	.	.	0.720037475653	0.71756	0.44613923953538404	0.44531	0.41460483688	0.42137	0.647432327271	0.59621	T	0.12961	0.45799	T	-0.0882384	0.38366	T	0.101291	0.76994	D	0.139081734822503	0.16196	T	0.965703	0.88031	D	0.18472059	0.39800	0.18038116	0.40833	0.18472059	0.39800	0.18038116	0.40832	-5.266	0.39606	T	.	.	0.127	0.28835	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.859136	0.79503	27.1	0.93431689394681916	0.23205	0.85909	0.45098	D	AEFDBCI	0.489260	0.52724	N	0.428560912021098	0.62999	4.525372	0.502899881247358	0.68187	5.185329	0.999999999651796	0.74766	0.706548	0.73137	0	0.627178	0.54094	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	3.533000	0.53317	11.812000	0.96965	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.074	0.89348	941	0.13089	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.007576	0.08333	713.83	34	chr2	217836106	.	G	A	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.129;DP=253;ExcessHet=0;FS=0.872;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.047;SOR=0.781	GT:AD:DP:GQ:PL	0/1:45,32:77:99:724,0,1245	5	0	1	0
chr2	218638605	218638605	G	A	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon9:c.C4798T:p.R1600C,ZNF142:NM_001105537:exon10:c.C4798T:p.R1600C,ZNF142:NM_001366290:exon10:c.C5398T:p.R1800C,ZNF142:NM_001379662:exon10:c.C4798T:p.R1600C,ZNF142:NM_001366287:exon11:c.C4309T:p.R1437C,ZNF142:NM_001366288:exon11:c.C4309T:p.R1437C,ZNF142:NM_001366289:exon11:c.C4309T:p.R1437C,ZNF142:NM_001379659:exon11:c.C5398T:p.R1800C,ZNF142:NM_001379660:exon11:c.C5398T:p.R1800C,ZNF142:NM_001379661:exon11:c.C5398T:p.R1800C	.	424	1092	5	1	0	7	0.00319489	.	.	.	2818919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.411	.	0.0002	0.00239617	0.0012	0	0	0	0	7.534e-05	0.0011	0.0084	0.0010479	162	154602	rs373369883	0.0005	0.0005	0.0003	0.0007	0.0074	0.0005	0.0005	0.0069	0.0067	2.987e-05	2.237e-05	0	2.519e-05	1.872e-05	0.0010	5.037e-05	0.0004	0.0074	0.0003	0.0003	0.0001	0.0004	0.0085	0.0002	0.0002	0.0064	0.0057	0	0	0	0	0	0	0	2.94e-05	0	0.0085	0.004	0.65419	D	0.001	0.83351	D	0.999	0.77913	D	0.781	0.57337	P	0.000000	0.84330	D	0.048947	0.999997	0.58761	D	2.305	0.65957	M	0.09	0.61443	T	-3.17	0.64363	D	0.622	0.63713	-0.3831	0.72555	T	0.348	0.71233	T	10	0.010672778	0.00237	T	.	.	.	0.411	0.72252	.	.	0.842402792429	0.84089	0.521613542192921	0.52084	0.233078911365	0.25846	0.861405611038	0.91318	D	0.201415	0.55929	T	-0.174409	0.24570	T	-0.0184575	0.69131	D	0.152706235647202	0.17317	T	0.961304	0.85476	D	0.25715163	0.48758	0.24907261	0.50470	0.25715163	0.48758	0.24907261	0.50469	-7.19	0.55409	T	.	.	0.909	0.86689	P	.;.	.;.	5.345704	0.89680	31	0.99932409350969575	0.99439	0.98412	0.82510	D	AEFDBI	0.938976	0.93894	D	0.816083733031161	0.87103	9.103345	0.834718984950834	0.92092	11.23215	0.999360764628043	0.39301	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.01	6.01	0.97420	7.531000	0.80869	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.515	0.99215	923	0.18507	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	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1759.83	33	chr2	218638605	.	G	A	1759.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.96;DP=305;ExcessHet=0;FS=4.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-1.592;SOR=1.107	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1770,0,1839	5	0	1	0
chr2	219231956	219231956	A	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon3:c.A177C:p.R59S,ANKZF1:NM_018089:exon3:c.A177C:p.R59S	.	416	1079	25	2	0	29	0.0132602	.	.	.	697336	not_provided|ANKZF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00778754	0.0089	0.0012	0.0037	0.0001	0.0194	0.0080	0.0122	0.0211	0.0085316	1319	154602	rs13007650	0.0088	0.0088	0.0083	0.0093	0.0220	0.0087	0.0086	0.0211	0.0208	0.0012	0.0045	0.0032	7.557e-05	0.0160	0.0090	0.0083	0.0081	0.0220	0.0068	0.0068	0.0065	0.0072	0.0214	0.0065	0.0064	0.0180	0.0168	0.0015	0	0.0031	0.0032	0.0002	0.0172	0.0068	0.0092	0.0043	0.0214	0.746	0.38633	T	0.731	0.30631	T	0.003	0.11197	B	0.004	0.10090	B	0.271230	0.15123	N	0.699077	0.999995	0.31419	N	1.765	0.45800	L	1.75	0.26152	T	0.59	0.27463	N	0.16	0.16725	-1.0159	0.25045	T	0.032	0.13679	T	10	0.0038906932	0.00074	T	.	.	.	0.081	0.23632	0.291	0.25241	0.579527763308	0.57622	0.22850347717243094	0.22765	0.127213946032	0.14337	0.334729135036	0.15648	T	0.002178	0.12713	T	-0.655606	0.00067	T	-0.697589	0.05958	T	0.00644846666458732	0.00072	T	0.724828	0.35940	T	0.084070094	0.19442	0.05383886	0.09147	0.084070094	0.19442	0.05383886	0.09146	-3.037	0.10585	T	.	.	0.186	0.50536	B	.;.;.;.	.;.;.;.	1.900432	0.24136	16.28	0.92565790712357521	0.22018	0.66865	0.33228	D	AEFDBI	0.111853	0.22131	N	-0.438466859247574	0.24132	1.300918	-0.301788123306998	0.28042	1.560396	0.999954060419991	0.48110	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.12	3.91	0.44383	0.657000	0.24647	2.695000	0.34117	0.684000	0.82519	0.851000	0.30461	1.000000	0.68203	0.955000	0.50612	0.8146:0.1854:0.0:0.0	9.009	0.35291	550	0.72197	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.003788	0.08333	1293.83	35	chr2	219231956	.	A	C	1293.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=258;ExcessHet=0;FS=7.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.494;SOR=1.123	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1304,0,944	5	0	1	0
chr2	219236056	219236056	C	T	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001282792:exon10:c.C1388T:p.P463L,ANKZF1:NM_001042410:exon13:c.C2018T:p.P673L,ANKZF1:NM_018089:exon13:c.C2018T:p.P673L	.	0	225	1	0	0	1	0.00221729	.	.	.	1336927	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.161	0.0255390538275	.	.	1.657e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs200850569	1.437e-05	1.436e-05	1.497e-05	1.375e-05	0.0007	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.439e-05	1.656e-05	0	1.314e-05	1.313e-05	0	2.689e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.028	0.46129	D	0.347	0.21011	T	0.001	0.07471	B	0.003	0.08700	B	0.547627	0.11470	N	0.804918	0.99999	0.08975	N	1.5	0.37844	L	-3.47	0.94546	D	-1.0	0.29323	N	0.112	0.14196	-0.1631	0.78595	T	0.648	0.87711	D	10	0.11436173	0.21515	T	0.025539	0.48504	D	0.161	0.41658	0.226	0.15109	0.895986508567	0.89496	0.20093225496585568	0.20010	0.113540832518	0.12816	0.383242756128	0.22716	T	0.004725	0.04133	T	-0.12797	0.31824	T	-0.324742	0.42052	T	0.0752637085670243	0.09371	T	0.828517	0.50694	T	0.03577678	0.04276	0.03743569	0.03395	0.03577678	0.04276	0.03743569	0.03394	-5.161	0.38543	T	.	.	0.093	0.14614	B	.;.;.	.;.;.	2.131340	0.27137	17.36	0.9197744914297995	0.21308	0.19591	0.20720	N	AEFBCI	0.103672	0.20764	N	-0.594796926995536	0.19102	0.9971107	-0.53529071933268	0.21196	1.145586	0.948469903892379	0.27801	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.52	0.39415	0.204000	0.17133	1.006000	0.23296	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.141:0.6455:0.1366:0.0769	5.662	0.16949	550	0.72197	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2575.83	36	chr2	219236056	.	C	T	2575.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.377;DP=492;ExcessHet=0;FS=0.571;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.938;SOR=0.748	GT:AD:DP:GQ:PL	0/1:82,93:175:99:2586,0,2238	5	0	1	0
chr2	228018867	228018867	C	T	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.G1987A:p.V663I,SPHKAP:NM_030623:exon7:c.G1987A:p.V663I	.	429	1080	10	2	1	15	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00295187338938	0.0016	0.000599042	0.0017	0.0004	0.0006	0	0	0.0027	0.0011	0.0007	0.0015718	243	154602	rs115375305	0.0016	0.0016	0.0016	0.0017	0.0085	0.0016	0.0016	0.0066	0.0059	0.0003	0.0006	0.0181	0.0002	7.488e-05	0.0085	0.0014	0.0025	0.0012	0.0017	0.0018	0.0020	0.0015	0.0023	0.0016	0.0015	0.0015	0.0014	0.0002	0.0440	0.0009	0.0185	0	9.423e-05	0.0102	0.0018	0.0028	0.0023	0.477	0.08787	T	0.463	0.12668	T	0.0	0.09854	B	0.0	0.04355	B	0.455005	0.04836	N	1.286100	1	0.08975	N	-0.69	0.01958	N	0.99	0.41750	T	-0.01	0.07155	N	0.033	0.01740	-1.0381	0.17893	T	0.040	0.17020	T	10	0.0031555295	0.00053	T	0.002952	0.06280	T	0.042	0.11227	.	.	0.0482279557977	0.04254	0.07047903892941995	0.06984	0.0414775288599	0.04451	0.273816943169	0.06645	T	0.00858	0.07868	T	-0.6872	0.00043	T	-0.767156	0.02863	T	0.00361392054005881	0.00038	T	0.112789	0.00855	T	0.019902766	0.00531	0.02561494	0.00613	0.019902766	0.00531	0.02561494	0.00613	-3.225	0.12926	T	.	.	0.081	0.08609	B	.;.	.;.	1.256237	0.16537	12.60	0.90968524197328204	0.20218	0.05613	0.11520	N	AEFBI	0.048405	0.08256	N	-1.09134845170511	0.06801	0.3141479	-0.982530000252836	0.10178	0.5109501	2.29836144102018E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.7	0.23359	1.254000	0.32500	2.991000	0.35881	-0.107000	0.15377	0.001000	0.13787	0.264000	0.24003	0.994000	0.71098	0.2196:0.2342:0.2807:0.2655	0.462	0.00483	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.005051	0.002717	0.008772	0.000000	0.000000	0.012195	0.000000	0.08333	2344.83	33	chr2	228018867	.	C	T	2344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.28;DP=560;ExcessHet=0;FS=2.52;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.37;SOR=0.901	GT:AD:DP:GQ:PL	0/1:119,86:205:99:2355,0,3128	5	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8612.91	33	chr2	232847516	.	CACA	*	8612.91	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.776;DP=508;ExcessHet=0.095;FS=0.621;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.27;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,51:108:99:0|1:232847516_CACA_*:4392,2299,2370:232847516	4	0	2	0
chr2	236488062	236488062	G	T	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon4:c.C586A:p.Q196K,IQCA1:NM_001270585:exon4:c.C607A:p.Q203K,IQCA1:NM_024726:exon4:c.C586A:p.Q196K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0447732610403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275507822	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.02619	T	0.925	0.02825	T	0.002	0.09854	B	0.004	0.10090	B	0.045865	0.23494	N	0.364857	1	0.08975	N	.	.	.	-3.15	0.92938	D	-0.2	0.10136	N	0.325	0.39558	-0.5894	0.65245	T	0.572	0.84522	D	10	0.09491813	0.16914	T	0.044773	0.61656	D	0.187	0.46274	0.334	0.32167	0.627131723059	0.62409	0.42060100760455804	0.41976	0.0906231924294	0.10225	0.358836978674	0.19216	T	0.002465	0.01855	T	0.0147473	0.53670	T	-0.216593	0.53065	T	0.0318657017610459	0.02284	T	0.739826	0.37371	T	0.055351403	0.10745	0.048938744	0.07375	0.055351403	0.10745	0.048938744	0.07375	-3.699	0.19304	T	.	.	0.09	0.12891	B	.;.;.	.;.;.	1.517870	0.19489	14.29	0.21595673766907045	0.00830	0.83969	0.43058	D	AEFI	0.193268	0.32039	N	-0.683999519515503	0.16478	0.8398602	-0.595203368380821	0.19617	1.05333	0.986530997267102	0.31081	0.638212	0.43195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.45	3.5	0.39181	2.319000	0.43447	5.938000	0.51432	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.067000	0.16453	0.0:0.1424:0.7187:0.1389	11.270	0.48369	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	.	.	.	.	.	.	.	.	0.08333	699.83	35	chr2	236488062	.	G	T	699.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.318;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=1.59;SOR=0.676	GT:AD:DP:GQ:PL	0/1:48,31:79:99:710,0,1376	5	0	1	0
chr2	237336440	237336440	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon37:c.C6839T:p.T2280I,COL6A3:NM_057167:exon39:c.C8042T:p.T2681I,COL6A3:NM_004369:exon40:c.C8660T:p.T2887I	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1444072	not_provided|Bethlem_myopathy_1A|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.217	0.0413549720963	.	.	3.295e-05	9.61e-05	0	0	0	1.498e-05	0.0022	0	2.59e-05	4	154602	rs765812583	4.241e-05	4.241e-05	4.22e-05	4.263e-05	5.216e-05	3.376e-05	3.065e-05	4.091e-05	3.741e-05	0	0	0	0	0	0	5.216e-05	6.623e-05	0	4.598e-05	4.597e-05	5.138e-05	4.034e-05	7.237e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	7.237e-05	0	0	0	0	0	0	5.879e-05	0	0	0.173	0.22573	T	0.115	0.36630	T	0.288	0.32258	B	0.158	0.34617	B	0.019428	0.27259	N	0.251357	1	0.08975	N	1.79	0.46772	L	-2.34	0.88220	D	-0.25	0.12283	N	0.104	0.15609	-0.3056	0.74828	T	0.567	0.84317	D	10	0.11320448	0.21258	T	0.041355	0.59883	D	0.217	0.51112	0.319	0.29741	0.800277870825	0.79841	0.1835805725186393	0.18277	0.159409428021	0.17987	0.31321978569	0.12393	T	0.154959	0.49648	T	-0.141871	0.29592	T	-0.260037	0.48822	T	0.0591415278613567	0.07033	T	0.823618	0.49671	T	0.037674602	0.04875	0.03640171	0.03080	0.037674602	0.04874	0.03640171	0.03080	-7.209	0.55546	T	.	.	0.134	0.45074	B	.;.;.;.;.	.;.;.;.;.	1.353803	0.17619	13.27	0.83420680346023734	0.14716	0.07461	0.13478	N	AEFDBHCI	0.081834	0.16563	N	-0.451548783912009	0.23687	1.273795	-0.510684213486323	0.21863	1.18474	0.999783301374981	0.43007	0.615465	0.37627	0	0.586423	0.34054	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.88	2.98	0.33575	1.744000	0.37894	-0.653000	0.08018	0.656000	0.54149	0.012000	0.18695	0.000000	0.08366	0.126000	0.19410	0.1331:0.0:0.8669:0.0	6.439	0.21043	955	0.09969	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	2322.83	42	chr2	237336440	.	G	A	2322.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.862;DP=382;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.242;SOR=0.715	GT:AD:DP:GQ:PL	0/1:93,92:185:99:2333,0,2378	5	0	1	0
chr2	237371896	237371896	T	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon6:c.A2300T:p.D767V,COL6A3:NM_057164:exon7:c.A2900T:p.D967V,COL6A3:NM_057165:exon8:c.A3503T:p.D1168V,COL6A3:NM_057167:exon8:c.A3503T:p.D1168V,COL6A3:NM_004369:exon9:c.A4121T:p.D1374V	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	270397	Ullrich_congenital_muscular_dystrophy_1A|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.776	0.468001300465	.	.	9.898e-05	0	0.0002	0	0	0.0001	0.0011	0	7.76e-05	12	154602	rs766488017	8.073e-05	8.072e-05	7.623e-05	8.526e-05	0.0043	6.868e-05	6.421e-05	0.0030	0.0026	2.987e-05	8.944e-05	3.826e-05	0	0	0.0043	6.475e-05	4.967e-05	0.0001	4.614e-05	4.602e-05	3.862e-05	5.402e-05	8.826e-05	2.115e-05	1.531e-05	3.764e-05	2.576e-05	0	0	0	0	0	0	0.0032	8.826e-05	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000023	0.55875	D	0.000000	1	0.81001	D	1.52	0.38360	L	-2.07	0.85943	D	-5.5	0.85844	D	0.656	0.72477	0.561	0.91383	D	0.719	0.90375	D	10	0.95130885	0.94468	D	0.468001	0.94630	D	0.776	0.92501	0.744	0.87570	0.905784826116	0.90484	0.8310157049559171	0.83060	0.766494967178	0.64535	0.407516598701	0.26112	T	0.673355	0.90330	D	0.0453901	0.57748	T	0.0640918	0.74515	D	0.217973637576734	0.21362	T	0.953005	0.83719	D	0.8560176	0.87784	0.8099054	0.88894	0.8560176	0.87785	0.8099054	0.88895	-4.043	0.36775	T	0.5899986827693002	0.65679	0.194	0.49960	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.787301	0.36630	20.3	0.99480112634803608	0.66850	0.99449	0.96169	D	AEFBI	0.836748	0.75447	D	0.623100941597932	0.74638	6.16679	0.584081609424523	0.73799	6.029885	0.999999999841018	0.74766	0.594549	0.33734	0	0.59043	0.45803	0	0.597571	0.31856	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	4.199000	0.58223	3.396000	0.38099	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.461000	0.28141	0.0:0.0:0.0:1.0	15.867	0.78850	940	0.13648	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2080.83	36	chr2	237371896	.	T	A	2080.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.145;DP=338;ExcessHet=0;FS=1.279;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.806;SOR=0.846	GT:AD:DP:GQ:PL	0/1:70,82:152:99:2091,0,1709	5	0	1	0
chr2	237567117	237567117	G	A	exonic	PRLH	.	nonsynonymous SNV	PRLH:NM_015893:exon2:c.G206A:p.R69Q	.	389	1132	1	0	0	1	0.000441501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00625265117934	7.7e-05	.	6.649e-05	0	0	0	0	0.0001	0	6.1e-05	5.17e-05	8	154602	rs144703716	4.584e-05	4.583e-05	5.173e-05	3.988e-05	6.711e-05	3.662e-05	3.347e-05	3.804e-05	3.407e-05	0	6.711e-05	0	2.519e-05	0	0	4.856e-05	6.624e-05	5.798e-05	9.855e-05	9.85e-05	3.854e-05	0.0002	0.0005	6.006e-05	4.879e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	0.0001	0.0005	0	0.303	0.14352	T	0.246	0.23984	T	0.04	0.21238	B	0.009	0.14300	B	0.771216	0.09546	N	0.832156	1	0.08975	N	.	.	.	.	.	.	-0.86	0.23372	N	0.121	0.11197	-1.0099	0.26949	T	0.049	0.20947	T	8	0.050179183	0.04711	T	0.006253	0.16406	T	0.003	0.00094	.	.	0.0846915920261	0.08053	0.23563466965891047	0.23478	0.0184752091129	0.01799	0.269414663315	0.06064	T	0.169189	0.51648	T	-0.459599	0.00989	T	-0.682623	0.06825	T	0.0126927122473717	0.00213	T	0.490351	0.15073	T	0.036589004	0.04531	0.030333908	0.01477	0.036589004	0.04531	0.030333908	0.01477	-4.084	0.25054	T	.	.	0.066	0.02118	B	.	.	0.321304	0.06959	3.507	0.97859480844863711	0.36452	0.08194	0.14154	N	AEFDBCI	0.066953	0.13137	N	-0.94273052632715	0.09857	0.4683684	-1.01066569502021	0.09551	0.4757795	0.0342309960364958	0.14144	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.97	1.09	0.19517	-0.312000	0.08153	-1.031000	0.06547	-0.115000	0.14600	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3083:0.0:0.5184:0.1733	3.56	0.07431	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	978.83	35	chr2	237567117	.	G	A	978.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.26;DP=256;ExcessHet=0;FS=2.957;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.094;SOR=1.085	GT:AD:DP:GQ:PL	0/1:45,39:84:99:989,0,1094	5	0	1	0
chr2	240783782	240783782	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001244008:exon8:c.G755A:p.S252N,KIF1A:NM_001320705:exon8:c.G755A:p.S252N,KIF1A:NM_001330289:exon8:c.G755A:p.S252N,KIF1A:NM_001330290:exon8:c.G755A:p.S252N,KIF1A:NM_001379631:exon8:c.G755A:p.S252N,KIF1A:NM_001379632:exon8:c.G755A:p.S252N,KIF1A:NM_001379633:exon8:c.G755A:p.S252N,KIF1A:NM_001379634:exon8:c.G755A:p.S252N,KIF1A:NM_001379635:exon8:c.G755A:p.S252N,KIF1A:NM_001379636:exon8:c.G755A:p.S252N,KIF1A:NM_001379637:exon8:c.G755A:p.S252N,KIF1A:NM_001379638:exon8:c.G755A:p.S252N,KIF1A:NM_001379639:exon8:c.G755A:p.S252N,KIF1A:NM_001379640:exon8:c.G755A:p.S252N,KIF1A:NM_001379641:exon8:c.G755A:p.S252N,KIF1A:NM_001379642:exon8:c.G755A:p.S252N,KIF1A:NM_001379645:exon8:c.G755A:p.S252N,KIF1A:NM_001379646:exon8:c.G755A:p.S252N,KIF1A:NM_001379648:exon8:c.G755A:p.S252N,KIF1A:NM_001379649:exon8:c.G755A:p.S252N,KIF1A:NM_001379650:exon8:c.G755A:p.S252N,KIF1A:NM_001379651:exon8:c.G755A:p.S252N,KIF1A:NM_001379653:exon8:c.G755A:p.S252N,KIF1A:NM_004321:exon8:c.G755A:p.S252N	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.825179253604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.892	0.49086	P	0.675	0.53279	P	0.000624	0.42799	U	0.243448	1	0.81001	D	3.585	0.93597	H	-1.58	0.81987	D	-2.55	0.58407	D	0.861	0.90251	0.828	0.94753	D	0.765	0.92002	D	10	0.9707978	0.96675	D	0.825179	0.98642	D	0.707	0.89514	0.843	0.94784	0.856394551767	0.85501	0.9977420874183616	0.99773	2.150824523	0.95316	0.779764413834	0.78891	T	0.908021	0.98246	D	0.161623	0.70351	D	-0.00561668	0.69970	D	0.992265641689301	0.82702	D	0.958704	0.86020	D	0.71956587	0.79137	0.69466484	0.82024	0.71956587	0.79138	0.69466484	0.82025	-13.609	0.91717	D	0.9491970964222244	0.98160	0.992	0.96865	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.740032	0.76438	26.5	0.99549718333739579	0.71086	0.77881	0.38346	D	AEFDBCI	0.705702	0.66101	D	0.557794859974276	0.70559	5.519172	0.44735992656668	0.64547	4.712403	0.999999996498318	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	3.41	3.41	0.38145	7.670000	0.82907	7.525000	0.59824	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.380000	0.26335	0.0:1.0:0.0:0.0	15.199	0.72808	988	0.01987	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain, conserved site|Kinesin motor domain|Kinesin motor domain;.;.;.;.;.;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain, conserved site|Kinesin motor domain|Kinesin 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	.	.	.	.	.	.	.	.	0.3	278.59	83	chr2	240783782	.	C	T	278.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.977;DP=475;ExcessHet=1.383;FS=240.41;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.388;SOR=8.932	GT:AD:DP:GQ:PL	0/1:89,28:117:58:58,0,1453	2	0	3	1
chr3	14525885	14525885	G	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon2:c.C87A:p.D29E	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749908803	2.837e-06	6.84e-06	1.402e-06	4.308e-06	0.0002	6.6e-07	4.5e-07	.	.	0	0	0	0	0	0.0002	9.218e-07	3.418e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.18732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.06059	.	.	.	.	.	.	.	0.1082387	0.20141	T	.	.	.	.	.	.	.	0.563764762904	0.56040	0.3694764415195257	0.36861	.	.	0.420895457268	0.27959	T	0.047482	0.27735	T	-0.178215	0.24000	T	-0.49377	0.22997	T	.	.	.	0.585341	0.21331	T	0.044060647	0.06977	0.058819305	0.10935	0.044060647	0.06977	0.058819305	0.10934	-2.535	0.06025	T	.	.	0.084	0.30238	B	.;.;.;.	.;.;.;.	-3.719386	0.00002	0.001	0.70624873876499394	0.09357	0.08921	0.14775	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999939953711	0.74766	0.119611	0.03067	2	0.085267	0.02369	0	0.090035	0.02915	2	0.058706	0.01089	0	0.187806	0.29844	5.36	-8.28	0.00888	-3.037000	0.00697	-20.000000	0.00162	-1.682000	0.00784	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.512:0.2844:0.2036:0.0	8.425	0.31882	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	.	.	.	.	.	.	.	.	0.08333	954.83	33	chr3	14525885	.	G	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.96;DP=256;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-2.518;SOR=0.565	GT:AD:DP:GQ:PL	0/1:45,35:80:99:965,0,1080	5	0	1	0
chr3	31990403	31990403	G	A	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.G1324A:p.V442I	.	406	1093	22	1	0	24	0.0108597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0009	0.0393371	0.0148	0.0013	0.0068	0.1224	0.0079	0.0013	0.0100	0.0331	0.013538	2093	154602	rs79295539	0.0056	0.0056	0.0048	0.0063	0.1019	0.0054	0.0054	0.0992	0.0981	0.0010	0.0055	0	0.1019	0.0083	0.0087	0.0006	0.0084	0.0283	0.0055	0.0056	0.0043	0.0066	0.0923	0.0051	0.0050	0.0849	0.0820	0.0010	0.0022	0.0050	0	0.0923	0.0081	0.0103	0.0008	0.0082	0.0279	0.126	0.27194	T	0.259	0.23097	T	0.956	0.54666	P	0.939	0.67449	D	.	.	.	.	1	0.08975	P	0.49	0.13296	N	2.17	0.19020	T	-0.75	0.21003	N	0.005	0.00034	-1.0590	0.12007	T	0.001	0.00318	T	6	0.002504468	0.00038	T	.	.	.	0.025	0.05312	.	.	.	.	0.014765551030179415	0.01433	0.144387688307	0.16313	0.29153418541	0.09145	T	0.003645	0.03050	T	-0.753551	0.00017	T	-0.768347	0.02823	T	0.0157454019745825	0.00365	T	0.454055	0.12934	T	0.07960745	0.18197	0.07611527	0.16827	0.07960745	0.18197	0.07611527	0.16827	-3.775	0.20432	T	.	.	0.109	0.20896	B	.	.	1.030601	0.14106	10.68	0.94573514009708215	0.25110	0.00465	0.02234	N	AEFBCI	0.015932	0.00328	N	-0.548754751026196	0.20522	1.082491	-0.838316985830647	0.13568	0.7046228	0.810192789762887	0.24341	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	0.336	0.336	0.15198	-0.504000	0.06456	-9.826000	0.00772	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	.	.	.	946	0.12043	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	0.014799	0.005051	0.008152	0.024590	0.000000	0.000000	0.009146	0.037879	0.08333	1508.83	34	chr3	31990403	.	G	A	1508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.36;DP=548;ExcessHet=0;FS=3.899;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=0.719;QD=8.67;ReadPosRankSum=2.2;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,58:174:99:0|1:31990403_G_A:1519,0,3951:31990403	5	0	1	0
chr3	31990420	31990503	TCATACTGGAGAGAAACCTTACAAGTGTAATGAGTGTGGCAAGACCTTCCATCACAATTCAGCCCTTGTAATTCATAAGGCAAT	-	exonic	ZNF860	.	nonframeshift deletion	ZNF860:NM_001137674:exon2:c.1341_1424del:p.H464_F491del	.	408	1095	18	1	0	20	0.00904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0155	0.0248	0.0075	0.0997	0.0077	0.0014	0.0078	0.0320	0.0002305	6	26028	.	0.0038	0.0044	0.0033	0.0042	0.0571	0.0037	0.0037	0.0551	0.0543	0.0020	0.0039	0	0.0571	0.0052	0.0069	0.0005	0.0061	0.0210	0.0043	0.0051	0.0033	0.0053	0.0583	0.0040	0.0039	0.0529	0.0507	0.0009	0.0033	0.0038	0.0003	0.0583	0.0063	0.0103	0.0008	0.0076	0.0247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1210.79	34	chr3	31990419	.	CTCATACTGGAGAGAAACCTTACAAGTGTAATGAGTGTGGCAAGACCTTCCATCACAATTCAGCCCTTGTAATTCATAAGGCAAT	C	1210.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.115;DP=606;ExcessHet=0;FS=8.014;MLEAC=1;MLEAF=0.083;MQ=59.7;MQRankSum=-1.529;QD=5.31;ReadPosRankSum=-0.835;SOR=1.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,54:228:99:0|1:31990403_G_A:1221,0,6507:31990403	5	0	1	0
chr3	40189855	40189855	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284426:exon8:c.G496A:p.G166R,MYRIP:NM_001284425:exon9:c.G790A:p.G264R,MYRIP:NM_001284423:exon10:c.G1057A:p.G353R,MYRIP:NM_001284424:exon10:c.G1057A:p.G353R,MYRIP:NM_015460:exon10:c.G1057A:p.G353R	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.0505735074257	0.0002	.	0.0008	0	0.0002	0	0	0.0004	0	0.0041	0.0006598	102	154602	rs151142713	0.0004	0.0004	0.0003	0.0005	0.0066	0.0004	0.0004	0.0049	0.0044	0	8.957e-05	0	2.52e-05	3.759e-05	0.0066	0.0002	0.0006	0.0033	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0	0	0.0002	0	0	0.0002	0	0.0023	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.054221	0.999707	0.48408	D	2.72	0.79541	M	1.56	0.29602	T	-4.35	0.79571	D	0.674	0.79792	-0.9821	0.34515	T	0.146	0.47038	T	9	0.022714823	0.00575	T	0.050574	0.64299	D	0.333	0.65522	0.465	0.53566	0.550717487069	0.54728	0.34709370442562215	0.34623	0.569308612202	0.53113	0.709820210934	0.68567	T	0.209256	0.56943	T	-0.363599	0.03930	T	-0.297797	0.44958	T	0.169856835708151	0.18571	T	0.90001	0.65919	D	0.591905	0.72254	0.5492331	0.73939	0.591905	0.72255	0.5492331	0.73939	-9.842	0.72960	D	.	.	0.581	0.74739	P	.;.;.;.;.	.;.;.;.;.	4.185683	0.63049	24.5	0.99867280516764223	0.94547	0.97607	0.75865	D	AEFBI	0.904244	0.85429	D	0.357511716201636	0.59138	4.090716	0.317366859466169	0.56559	3.819485	0.992772833971725	0.32963	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.94	4.13	0.47661	7.575000	0.81761	11.742000	0.95215	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.422000	0.27272	0.0747:0.0:0.7831:0.1421	9.494	0.38141	839	0.37672	Rab effector MyRIP/Melanophilin;Rab effector MyRIP/Melanophilin;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.25	6461.0	33	chr3	40189855	.	G	A	6461.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.17;DP=447;ExcessHet=0;FS=0.977;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.472;SOR=0.761	GT:AD:DP:GQ:PL	1/1:1,157:158:99:4823,462,0	4	1	1	0
chr3	44243633	44243633	G	C	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.G1127C:p.S376T	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.014129511068	.	0.00139776	0.0018	0	0.0033	0	0	0	0	0.0045	0.0003234	50	154602	rs374160634	0.0003	0.0003	0.0002	0.0003	0.0038	0.0002	0.0002	0.0035	0.0033	0	0.0007	0	0	0	0.0012	3.151e-05	0.0002	0.0038	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0	0	0.0006	0	0	0	0	0.0001	0.0005	0.0029	0.18	0.21968	T	0.68	0.06109	T	0.728	0.42542	P	0.168	0.35187	B	0.175482	0.17250	N	0.594843	1	0.08975	N	1.32	0.33002	L	2.82	0.10871	T	-0.53	0.16393	N	0.082	0.05799	-0.9715	0.36883	T	0.014	0.05753	T	10	0.0030044317	0.00049	T	0.01413	0.34038	T	0.035	0.08770	0.243	0.17677	0.0138822411134	0.00435	0.06942426031573733	0.06880	.	.	0.251745015383	0.03954	T	0.006972	0.06393	T	-0.695129	0.00039	T	-0.773387	0.02659	T	0.029317983234847	0.01886	T	0.374563	0.08910	T	0.042795133	0.06557	0.04953928	0.07593	0.042795133	0.06556	0.04953928	0.07592	-3.771	0.20372	T	.	.	0.082	0.08705	B	.	.	0.849338	0.12215	8.759	0.72225451772087879	0.09899	0.04333	0.09893	N	AEFDBI	0.044881	0.07275	N	-0.787455676827544	0.13636	0.673195	-0.853537702642384	0.13203	0.683625	0.0193597228147085	0.13154	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.41	-0.535	0.11286	-0.323000	0.08039	0.438000	0.18395	-0.135000	0.12811	0.000000	0.06391	0.919000	0.28284	0.953000	0.50222	0.3837:0.1437:0.4726:0.0	5.471	0.15965	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001238	0.000000	0.000000	0.004425	0.000000	0.000000	0.000000	0.013158	0.08333	1832.83	40	chr3	44243633	.	G	C	1832.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=382;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.512;SOR=0.638	GT:AD:DP:GQ:PL	0/1:68,68:136:99:1843,0,1719	5	0	1	0
chr3	48648802	48648802	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon18:c.C6694T:p.R2232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0356922659519	.	.	8.338e-06	0	0	0	0	1.525e-05	0	0	6.5e-06	1	154602	rs747131333	7.531e-06	7.524e-06	5.449e-06	9.634e-06	2.519e-05	4.04e-06	2.95e-06	3.1e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.194e-06	1.656e-05	1.159e-05	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.74104	D	.	.	.	.	1	0.81001	D	2.39	0.68882	M	2.87	0.10386	T	-4.68	0.79659	D	0.503	0.53532	-1.0704	0.09326	T	0.091	0.34765	T	9	0.53338546	0.63310	D	0.035692	0.56514	D	0.340	0.66202	0.519	0.62066	0.539767512765	0.53629	0.8065110304746658	0.80606	1.09446610139	0.77537	0.600993990898	0.53044	T	0.387511	0.74841	T	0.0793354	0.61963	D	-0.0601708	0.66320	T	0.985947370529175	0.76793	D	0.746525	0.36724	T	0.28145635	0.51188	0.2768039	0.53628	0.28145635	0.51188	0.2768039	0.53627	-7.833	0.59927	D	.	.	0.220	0.45086	B	.	.	5.251297	0.88165	29.5	0.99942566021444057	0.99824	0.98906	0.88443	D	AEFGBI	0.843293	0.76034	D	0.763135570117654	0.83758	8.101897	0.730402910401301	0.84684	8.361985	0.999999999996276	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.1	5.1	0.68917	6.250000	0.72387	4.469000	0.43488	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.517	0.90892	4	0.99387	GAIN domain, 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	.	.	.	.	.	.	.	.	0.1667	2166.06	34	chr3	48648802	.	G	A	2166.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.91;DP=292;ExcessHet=0.4139;FS=6.111;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-0.096;SOR=1.059	GT:AD:DP:GQ:PL	0/1:30,44:74:99:1163,0,715	4	0	2	0
chr3	49625133	49625133	C	T	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon2:c.C383T:p.T128M	.	431	1084	7	0	0	7	0.00321839	.	.	.	3210445	BSN-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.133	0.00461384012273	0.0007	0.000599042	0.0012	0.0005	0.0007	0	0.0003	0.0016	0	0.0012	0.0012419	192	154602	rs140421176	0.0016	0.0016	0.0015	0.0016	0.0033	0.0015	0.0015	0.0022	0.0018	0.0004	0.0006	3.912e-05	0	0.0001	0.0033	0.0018	0.0016	0.0014	0.0014	0.0014	0.0013	0.0015	0.0021	0.0013	0.0012	0.0017	0.0016	0.0008	0.0011	0.0021	0	0	0.0002	0.0102	0.0019	0.0014	0.0021	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.828	0.59497	P	0.000401	0.44960	D	0.189282	0.996916	0.43501	D	0.805	0.20218	L	2.15	0.19311	T	-1.47	0.35991	N	0.241	0.27197	-1.1212	0.02257	T	0.085	0.33043	T	10	0.013657153	0.00289	T	0.004614	0.11409	T	0.133	0.36157	.	.	0.147330786459	0.14319	0.20901534266754246	0.20817	0.288263752571	0.31236	0.488674342632	0.37254	T	0.183038	0.53525	T	-0.463491	0.00935	T	-0.445333	0.28213	T	0.0262934704786098	0.01445	T	0.842916	0.51943	T	0.123157874	0.28925	0.22053032	0.46831	0.123157874	0.28924	0.22053032	0.46830	-5.934	0.45724	T	.	.	0.079	0.07507	B	.	.	3.037946	0.40717	21.2	0.99424146665765722	0.63935	0.33979	0.24958	N	AEFBI	0.364751	0.45318	N	0.216904887222884	0.52018	3.378787	0.200439852296545	0.49871	3.185329	0.999945730420843	0.47345	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	0.382000	0.20364	1.634000	0.27755	0.599000	0.40250	0.014000	0.18986	0.895000	0.27885	0.994000	0.71098	0.0:1.0:0.0:0.0	19.047	0.93008	1	0.99630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	2365.06	39	chr3	49625133	.	C	T	2365.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.28;DP=299;ExcessHet=0.4139;FS=4.962;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=1.41;SOR=0.732	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1374,0,830	4	0	2	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020142	0.035714	0.006925	0.030973	0.000000	0.017544	0.026515	0.020492	0.1667	310.42	109	chr3	49686750	.	C	G	310.42	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.93;DP=482;ExcessHet=0.4139;FS=76.682;MLEAC=2;MLEAF=0.167;MQ=48.68;MQRankSum=-5.082;QD=1.57;ReadPosRankSum=-1.025;SOR=3.705	GT:AD:DP:GQ:PL	0/1:99,18:117:99:162,0,2685	4	0	2	0
chr3	50343823	50343823	C	T	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon3:c.G229A:p.A77T,ZMYND10:NM_015896:exon3:c.G229A:p.A77T	Ciliary dyskinesia, primary, 22, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	393851	Primary_ciliary_dyskinesia_22|Primary_ciliary_dyskinesia|ZMYND10-related_disorder	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.00712706899412	0.0008	0.000599042	0.0012	0.0004	0.0008	0	0	0.0016	0	0.0011	0.0012484	193	154602	rs146847253	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0006	0	2.519e-05	1.872e-05	0.0038	0.0021	0.0016	0.0011	0.0013	0.0013	0.0013	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0.0011	0.0019	0	0	0	0.0102	0.0020	0.0019	0.0010	0.338	0.13088	T	0.44	0.13872	T	0.005	0.12996	B	0.002	0.08700	B	0.368104	0.13569	N	0.749043	1	0.08975	N	0.605	0.15622	N	1.58	0.29085	T	-0.59	0.20358	N	0.331	0.37197	-1.0344	0.19046	T	0.045	0.19152	T	10	0.011636406	0.00253	T	0.007127	0.18896	T	0.037	0.09474	.	.	0.156986980423	0.15292	0.09890056742996664	0.09821	0.154575907448	0.17459	0.263797461987	0.05351	T	0.101597	0.40851	T	-0.510755	0.00497	T	-0.513225	0.20984	T	0.00220077275298536	0.00023	T	0.673733	0.29515	T	0.03614178	0.04390	0.05513085	0.09615	0.03614178	0.04390	0.05513085	0.09614	-2.24	0.05501	T	0.09928537317409401	0.07194	0.071	0.05060	B	.;.;.	.;.;.	0.162419	0.05527	1.989	0.74155081437159531	0.10590	0.19053	0.20509	N	AEFDBI	0.109365	0.21725	N	-0.979393416882191	0.09044	0.4264509	-0.972454653425125	0.10407	0.5239344	0.999991219532478	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.41	-3.87	0.03939	0.152000	0.16120	-1.318000	0.05730	-0.806000	0.03109	0.769000	0.29345	0.000000	0.08366	0.312000	0.24784	0.2727:0.1788:0.0:0.5485	6.740	0.22621	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	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	1611.06	36	chr3	50343823	.	C	T	1611.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.17;DP=297;ExcessHet=0.4139;FS=3.096;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.788;SOR=1.013	GT:AD:DP:GQ:PL	0/1:30,26:56:99:701,0,754	4	0	2	0
chr3	52403782	52403782	A	G	exonic	BAP1	.	nonsynonymous SNV	BAP1:NM_004656:exon13:c.T1363C:p.S455P	Tumor predisposition syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	616978	BAP1-related_tumor_predisposition_syndrome|BAP1-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0252661968503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.294	0.21011	T	0.167	0.28604	B	0.092	0.30031	B	0.009494	0.30337	N	0.350430	0.860269	0.35375	D	0.55	0.14455	N	0.36	0.58029	T	-0.73	0.20576	N	0.537	0.59138	-0.9510	0.40799	T	0.102	0.37768	T	10	0.2766176	0.45225	T	0.025266	0.48245	D	0.175	0.44197	0.142	0.04556	0.676491819518	0.67374	0.427172256058725	0.42634	0.821985878554	0.67215	0.677788496017	0.63951	T	0.026039	0.19349	T	-0.0282433	0.47672	T	-0.278346	0.46973	T	0.521985277060856	0.33438	D	0.868913	0.57225	D	0.103645034	0.24498	0.1637373	0.37968	0.103645034	0.24498	0.1637373	0.37967	-3.532	0.16883	T	0.15932934397729956	0.19365	0.851	0.79829	P	.;.	.;.	2.880604	0.38118	20.7	0.99671100488917141	0.78587	0.89607	0.50180	D	AEFDBCI	0.696954	0.65512	D	-0.179903889833374	0.33972	1.933563	-0.0140680659973843	0.39078	2.311676	0.999986006427145	0.51787	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.05	3.61	0.40494	2.487000	0.44926	7.951000	0.75833	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4979:0.0:0.0:0.5021	11.047	0.47085	68	0.97118	Peptidase C12, ubiquitin carboxyl-terminal hydrolase;Peptidase C12, ubiquitin carboxyl-terminal hydrolase	.	.	.	.	.	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	7641.0	33	chr3	52403782	.	A	G	7641.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.55;DP=482;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.047;SOR=0.673	GT:AD:DP:GQ:PL	1/1:0,166:166:99:5352,498,0	4	1	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	13019.5	77	chr3	75730451	.	T	G	13019.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.837;DP=693;ExcessHet=11.5949;FS=10.929;MLEAC=6;MLEAF=0.5;MQ=54.36;MQRankSum=-6.149;QD=19.06;ReadPosRankSum=0.458;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,83:154:99:0|1:75730450_C_T:3251,0,2731:75730450	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4036.48	106	chr3	75736884	.	G	GA	4036.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.401;DP=744;ExcessHet=6.1542;FS=0.598;MLEAC=5;MLEAF=0.417;MQ=56.86;MQRankSum=-7.488;QD=6.61;ReadPosRankSum=0.624;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,61:155:99:0|1:75736884_G_GA:2260,0,3735:75736884	1	0	5	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	8233.55	110	chr3	75736891	.	G	A	8233.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.281;DP=746;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.82;MQRankSum=-7.424;QD=11.17;ReadPosRankSum=0.579;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,62:157:99:0|1:75736884_G_GA:2289,0,3713:75736884	0	0	6	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	.	.	.	.	.	.	.	.	0.5	8377.55	114	chr3	75736920	.	C	A	8377.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.446;DP=776;ExcessHet=11.5949;FS=1.202;MLEAC=6;MLEAF=0.5;MQ=55.33;MQRankSum=-6.069;QD=10.84;ReadPosRankSum=0.12;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,60:161:99:0|1:75736920_C_A:2172,0,4060:75736920	0	0	6	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	.	.	.	.	.	.	.	.	0.5	8051.55	115	chr3	75736928	.	C	T	8051.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.94;DP=759;ExcessHet=11.5949;FS=1.205;MLEAC=6;MLEAF=0.5;MQ=54.84;MQRankSum=-7.061;QD=10.61;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,63:161:99:0|1:75736920_C_A:2307,0,3925:75736920	0	0	6	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	.	.	.	.	.	.	.	.	0.4	4768.39	116	chr3	75736981	.	T	C	4768.39	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.623;DP=764;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.4;MQ=51.73;MQRankSum=-7.808;QD=9.28;ReadPosRankSum=-0.63;SOR=0.71	GT:AD:DP:GQ:PL	0/1:96,54:150:99:1239,0,2848	1	0	4	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	7373.61	117	chr3	75737012	.	C	T	7373.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.452;DP=824;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.1;MQRankSum=-5.8;QD=10.84;ReadPosRankSum=-0.019;SOR=0.712	GT:AD:DP:GQ:PL	0/1:90,64:154:99:1764,0,3176	1	0	5	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	.	.	.	.	.	.	.	.	0.5	10091.9	126	chr3	75737060	.	A	G	10091.9	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.234;DP=933;ExcessHet=6.1542;FS=1.729;MLEAC=5;MLEAF=0.5;MQ=53.3;MQRankSum=-6.147;QD=12.74;ReadPosRankSum=0.642;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,88:184:99:0|1:75737060_A_G:3332,0,3708:75737060	0	0	5	1
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	14603.5	144	chr3	75737092	.	C	T	14603.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.748;DP=978;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.3;MQRankSum=-7.283;QD=15.1;ReadPosRankSum=1.16;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,95:200:99:0|1:75737060_A_G:3673,0,4123:75737060	0	0	6	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	14688.5	146	chr3	75737094	.	T	A	14688.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.276;DP=982;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.38;MQRankSum=-7.608;QD=15.03;ReadPosRankSum=0.959;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,96:203:99:0|1:75737060_A_G:3709,0,4204:75737060	0	0	6	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	14221.5	141	chr3	75737105	.	T	A	14221.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.488;DP=959;ExcessHet=11.5949;FS=6.075;MLEAC=6;MLEAF=0.5;MQ=55.85;MQRankSum=-8.077;QD=14.91;ReadPosRankSum=0.522;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,95:198:99:0|1:75737060_A_G:3679,0,4039:75737060	0	0	6	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	12533.5	142	chr3	75737127	.	A	C	12533.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.717;DP=908;ExcessHet=11.5949;FS=9.645;MLEAC=6;MLEAF=0.5;MQ=56.36;MQRankSum=-9.402;QD=13.9;ReadPosRankSum=0.942;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,87:188:99:0|1:75737060_A_G:3349,0,3979:75737060	0	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6966.51	126	chr3	75737163	.	CCTACATTCT	C	6966.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=751;ExcessHet=11.5949;FS=19.854;MLEAC=6;MLEAF=0.5;MQ=56.8;MQRankSum=-9.984;QD=9.4;ReadPosRankSum=0.438;SOR=1.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,61:147:99:0|1:75737060_A_G:2303,0,3418:75737060	0	0	6	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	585.32	92	chr3	75737228	.	T	C	585.32	.	AC=3;AF=0.25;AN=12;BaseQRankSum=4.33;DP=570;ExcessHet=1.383;FS=51.057;MLEAC=3;MLEAF=0.25;MQ=57.87;MQRankSum=-8.441;QD=1.98;ReadPosRankSum=-1.548;SOR=5.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,17:119:99:.:.:371,0,4183:.	3	0	3	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	18140.6	125	chr3	75737519	.	G	A	18140.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.512;DP=968;ExcessHet=11.5949;FS=2.432;MLEAC=6;MLEAF=0.5;MQ=56.18;MQRankSum=-5.291;QD=19.83;ReadPosRankSum=0.906;SOR=0.703	GT:AD:DP:GQ:PL	0/1:85,98:183:99:3732,0,3208	0	0	6	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	18889.6	138	chr3	75737590	.	A	G	18889.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.33;DP=1024;ExcessHet=11.5949;FS=0.518;MLEAC=6;MLEAF=0.5;MQ=53.24;MQRankSum=-9.909;QD=18.83;ReadPosRankSum=0.183;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,101:197:99:0|1:75737590_A_G:3891,0,3707:75737590	0	0	6	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	19771.6	132	chr3	75737608	.	T	C	19771.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=1043;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=52.93;MQRankSum=-11.35;QD=19.03;ReadPosRankSum=-0.024;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,108:213:99:0|1:75737590_A_G:4219,0,4084:75737590	0	0	6	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	20599.6	137	chr3	75737622	.	T	A	20599.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.019;DP=1067;ExcessHet=11.5949;FS=0.521;MLEAC=6;MLEAF=0.5;MQ=53.44;MQRankSum=-10.56;QD=19.38;ReadPosRankSum=-0.787;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,115:224:99:0|1:75737590_A_G:4501,0,4231:75737590	0	0	6	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	20953.6	128	chr3	75737651	.	G	A	20953.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.58;DP=1070;ExcessHet=11.5949;FS=1.1;MLEAC=6;MLEAF=0.5;MQ=54.4;MQRankSum=-9.631;QD=19.67;ReadPosRankSum=-1.06;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,112:222:99:0|1:75737590_A_G:4372,0,4282:75737590	0	0	6	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	20224.6	113	chr3	75737676	.	A	T	20224.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=1046;ExcessHet=11.5949;FS=1.101;MLEAC=6;MLEAF=0.5;MQ=55.24;MQRankSum=-7.284;QD=19.48;ReadPosRankSum=0.094;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,107:226:99:0|1:75737590_A_G:4135,0,4675:75737590	0	0	6	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	8497.8	130	chr3	75737840	.	C	T	8497.8	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.906;DP=1033;ExcessHet=6.1542;FS=10.627;MLEAC=5;MLEAF=0.5;MQ=59.07;MQRankSum=-4.792;QD=10.04;ReadPosRankSum=-0.081;SOR=0.907	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,62:225:99:0|1:75737814_C_T:2070,0,6375:75737814	0	0	5	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	4782.52	124	chr3	75737881	.	T	C	4782.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.545;DP=905;ExcessHet=6.1542;FS=26.886;MLEAC=5;MLEAF=0.417;MQ=58.38;MQRankSum=-7.065;QD=6.38;ReadPosRankSum=-4.483;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,30:192:99:0|1:75737881_T_C:638,0,6526:75737881	1	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3573.48	124	chr3	75737891	.	G	GAAAT	3573.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.247;DP=867;ExcessHet=6.1542;FS=28.355;MLEAC=5;MLEAF=0.417;MQ=58.29;MQRankSum=-7.54;QD=4.86;ReadPosRankSum=-3.515;SOR=1.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,24:192:99:0|1:75737881_T_C:450,0,6929:75737881	1	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3214.48	124	chr3	75737893	.	A	ACTT	3214.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.202;DP=857;ExcessHet=6.1542;FS=30.899;MLEAC=5;MLEAF=0.417;MQ=58.25;MQRankSum=-7.518;QD=4.43;ReadPosRankSum=-2.586;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,21:185:99:0|1:75737881_T_C:363,0,6820:75737881	1	0	5	0
chr3	75738169	75738169	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1454A:p.G485E,ZNF717:NM_001290208:exon5:c.G1454A:p.G485E,ZNF717:NM_001290209:exon5:c.G1304A:p.G435E,ZNF717:NM_001324027:exon5:c.G1454A:p.G485E	.	333	1185	4	0	0	4	0.00168492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00632419529316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178628201	0.0001	0.0005	0.0001	9.46e-05	0.0044	9.84e-05	9.291e-05	0.0038	0.0036	3.597e-05	0	0	0.0044	2.34e-05	0	1.148e-05	0.0001	1.497e-05	0.0007	0.0009	0.0006	0.0008	0.0161	0.0006	0.0005	0.0133	0.0122	7.225e-05	0	0.0003	0	0.0161	0	0	0.0002	0.0009	0.0002	0.0	0.91255	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	5.45	0.00969	T	-6.64	0.92217	D	0.09	0.06854	-0.9013	0.47857	T	0.008	0.02760	T	9	0.01081869	0.00239	T	0.006324	0.16610	T	0.103	0.29403	.	.	0.0846915920261	0.08053	0.0019978879089022935	0.00184	.	.	0.555585563183	0.46644	T	.	.	.	-0.141572	0.29639	T	-0.441135	0.28682	T	0.209255822065653	0.20914	T	0.443356	0.12326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.64279	A	.	.	2.147417	0.27353	17.43	0.99571562633751998	0.72440	0.01405	0.04757	N	AEFDBHCI	0.034319	0.04230	N	-0.114016770586032	0.36782	2.130796	-0.320205748440393	0.27446	1.523048	0.999975423066248	0.50053	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	2.07	1.16	0.19936	0.521000	0.22601	.	.	0.498000	0.22619	0.337000	0.25649	0.000000	0.08366	0.291000	0.24285	0.0:0.8335:0.0:0.1665	6.523	0.21480	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	.	.	.	.	.	.	.	.	0.1	551.7	155	chr3	75738169	.	C	T	551.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.59;DP=786;ExcessHet=0;FS=2.813;MLEAC=1;MLEAF=0.1;MQ=59.49;MQRankSum=-5.077;QD=3.8;ReadPosRankSum=0.599;SOR=1.057	GT:AD:DP:GQ:PL	0/1:118,27:145:99:561,0,4669	4	0	1	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1997.52	70	chr3	75739165	.	C	T	1997.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.495;DP=533;ExcessHet=6.1542;FS=31.345;MLEAC=5;MLEAF=0.417;MQ=54.48;MQRankSum=-8.249;QD=4.42;ReadPosRankSum=-0.837;SOR=1.728	GT:AD:DP:GQ:PL	0/1:75,24:99:99:455,0,2332	1	0	5	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	.	.	.	.	.	.	.	.	0.5	4007.55	43	chr3	75739283	.	G	T	4007.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.04;DP=498;ExcessHet=11.5949;FS=1.149;MLEAC=6;MLEAF=0.5;MQ=52.51;MQRankSum=-4.23;QD=8.47;ReadPosRankSum=1.94;SOR=0.837	GT:AD:DP:GQ:PL	0/1:61,42:103:99:906,0,1734	0	0	6	0
chr3	94050833	94050833	G	A	exonic	ARL13B	.	nonsynonymous SNV	ARL13B:NM_144996:exon7:c.G830A:p.G277E,ARL13B:NM_001174151:exon8:c.G842A:p.G281E,ARL13B:NM_001174150:exon9:c.G1151A:p.G384E,ARL13B:NM_182896:exon9:c.G1151A:p.G384E,ARL13B:NM_001321328:exon10:c.G1106A:p.G369E	Joubert syndrome 8, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	293112	not_provided|Joubert_syndrome_8|ARL13B-related_disorder	MedGen:C3661900|MONDO:MONDO:0012855,MedGen:C2676771,OMIM:612291,Orphanet:475|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.115	0.018831332473	0.0014	0.000998403	0.0015	0.0003	0.0012	0	0	0.0019	0.0022	0.0018	0.0015006	232	154602	rs146264035	0.0016	0.0016	0.0016	0.0017	0.0095	0.0016	0.0015	0.0075	0.0068	0.0004	0.0018	0.0014	0	7.66e-05	0.0095	0.0017	0.0018	0.0019	0.0015	0.0015	0.0015	0.0015	0.0030	0.0013	0.0013	0.0023	0.0021	0.0002	0.0242	0.0030	0.0038	0	0	0.0170	0.0016	0.0062	0.0021	0.057	0.39334	T	0.223	0.31629	T	0.873	0.47975	P	0.33	0.42079	B	0.000177	0.48594	D	0.179901	0.997803	0.44208	D	1.195	0.30194	L	1.68	0.65006	T	-1.69	0.40274	N	0.509	0.54059	-0.6491	0.62753	T	0.214	0.57481	T	10	0.011502713	0.00251	T	0.018831	0.41019	T	0.115	0.32236	.	.	0.646850752827	0.64392	0.1808644425362687	0.18005	0.140100657607	0.15791	0.598794400692	0.52734	T	0.143808	0.48011	T	-0.416846	0.01792	T	-0.37881	0.35862	T	0.0156964821724911	0.00362	T	0.867113	0.57669	D	0.12681466	0.29692	0.18354386	0.41351	0.13663489	0.31666	0.20899089	0.45223	-3.033	0.10809	T	0.15840941075236456	0.19194	0.289	0.52310	B	.;.;.;.	.;.;.;.	2.903571	0.38494	20.7	0.98575612558445047	0.43167	0.70488	0.34611	D	AEFBHCI	0.186808	0.31411	N	0.224827714477852	0.52405	3.41484	0.324462246134809	0.56982	3.862464	0.0896951601528528	0.16091	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.47	4.58	0.56077	2.996000	0.49137	7.232000	0.57876	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.147:0.0:0.853:0.0	10.978	0.46692	631	0.64944	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.010101	0.006793	0.008824	0.000000	0.008621	0.012195	0.003788	0.08333	865.83	35	chr3	94050833	.	G	A	865.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.279;DP=229;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.04;SOR=0.527	GT:AD:DP:GQ:PL	0/1:24,33:57:99:876,0,591	5	0	1	0
chr3	98354008	98354008	A	C	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.A155C:p.E52A	.	429	1084	8	1	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00140944196157	0.0005	0.000599042	0.0009	0.0002	0.0010	0	0	0.0013	0	0.0002	0.0008085	125	154602	rs78965394	0.0006	0.0006	0.0005	0.0006	0.0104	0.0005	0.0005	0.0083	0.0075	0.0002	0.0011	0.0035	0	0	0.0104	0.0005	0.0012	0.0002	0.0007	0.0008	0.0007	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0023	0.0029	0	0	0.0068	0.0007	0.0033	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.403	0.34918	B	0.371	0.43568	B	0.005811	0.32491	U	0.000000	0.999999	0.08975	N	1.36	0.34107	L	5.31	0.01086	T	-4.45	0.77717	D	0.265	0.30004	-1.0006	0.29746	T	0.007	0.02598	T	10	0.00875169	0.00198	T	0.001409	0.02088	T	0.131	0.35738	.	.	0.197625483188	0.19356	0.26452313262500454	0.26365	0.0122577980049	0.01168	0.243384540081	0.03103	T	0.010821	0.09727	T	-0.45709	0.01025	T	-0.496831	0.22677	T	0.0866761713187232	0.10819	T	0.445455	0.12454	T	0.3980649	0.60598	0.36761248	0.62067	0.3980649	0.60599	0.36761248	0.62067	-6.311	0.48809	T	.	.	0.402	0.59694	A	.	.	2.566532	0.33247	19.28	0.99068172431392332	0.51645	0.32527	0.24607	N	AEFI	0.158955	0.28468	N	-0.300306574426165	0.29137	1.613155	-0.372714881764971	0.25814	1.421915	0.698546500615225	0.22669	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	2.440000	0.44513	.	.	0.681000	0.82415	0.007000	0.17678	0.987000	0.30940	0.001000	0.02609	1.0:0.0:0.0:0.0	12.544	0.55536	773	0.48803	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	0.014099	0.010101	0.021739	0.008772	0.000000	0.034483	0.006098	0.003788	0.08333	2440.83	34	chr3	98354008	.	A	C	2440.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.962;DP=404;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.996;SOR=0.657	GT:AD:DP:GQ:PL	0/1:128,97:225:99:2451,0,3375	5	0	1	0
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L,ABI3BP:NM_001349332:exon28:c.G2359C:p.V787L,ABI3BP:NM_001349331:exon35:c.G2746C:p.V916L,ABI3BP:NM_001365642:exon40:c.G3112C:p.V1038L,ABI3BP:NM_001377332:exon49:c.G3691C:p.V1231L,ABI3BP:NM_001349330:exon54:c.G4015C:p.V1339L,ABI3BP:NM_001349329:exon57:c.G4225C:p.V1409L,ABI3BP:NM_001375549:exon59:c.G4390C:p.V1464L,ABI3BP:NM_001375550:exon59:c.G4396C:p.V1466L,ABI3BP:NM_001375547:exon60:c.G4438C:p.V1480L	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010111	0.000000	0.002717	0.005848	0.000000	0.000000	0.018405	0.034351	0.1667	1110.06	33	chr3	100775231	.	C	G	1110.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=208;ExcessHet=0.4139;FS=0.884;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.921;SOR=0.899	GT:AD:DP:GQ:PL	0/1:22,26:48:99:782,0,499	4	0	2	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	.	.	.	.	.	.	.	.	0.3	320.64	33	chr3	100775333	.	T	C	320.64	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.783;DP=162;ExcessHet=1.7609;FS=130.533;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.86;ReadPosRankSum=2.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,16:39:99:0|1:100775333_T_C:177,0,350:100775333	2	0	3	1
chr3	112116760	112116760	A	-	exonic	C3orf52	.	frameshift deletion	C3orf52:NM_001171747:exon4:c.515delA:p.Q172Hfs*18	.	437	1069	15	1	0	17	0.00788863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6e-05	.	0.0011	0	0	0	0	0.0001	0.0040	0.0029	0.0002135	33	154602	rs368909670	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0025	0	2.797e-05	0	0	0	0.0014	2.224e-05	0.0003	0.0030	0.0001	0.0001	7.708e-05	0.0002	0.0033	7.572e-05	6.277e-05	0.0021	0.0017	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001029	0.000000	0.004225	0.002959	0.000000	0.000000	0.000000	0.000000	0.08333	1556.79	33	chr3	112116759	.	CA	C	1556.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=1.37;SOR=0.68	GT:AD:DP:GQ:PL	0/1:63,51:114:99:1567,0,2012	5	0	1	0
chr3	113468368	113468368	G	C	exonic	SPICE1	.	nonsynonymous SNV	SPICE1:NM_001331078:exon10:c.C926G:p.P309R,SPICE1:NM_001331079:exon10:c.C968G:p.P323R,SPICE1:NM_144718:exon10:c.C926G:p.P309R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0130431542296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.07002	T	0.286	0.21277	T	0.049	0.22227	B	0.046	0.24676	B	0.413627	0.12963	N	0.757041	0.998663	0.22000	N	0.69	0.16971	N	1.61	0.28391	T	0.29	0.04161	N	0.335	0.37613	-1.0026	0.29168	T	0.033	0.14377	T	10	0.04538086	0.03601	T	0.013043	0.32127	T	0.012	0.01476	0.222	0.14518	0.17948927462	0.17512	0.052051453101654224	0.05147	0.109418363197	0.12343	0.294807583094	0.09629	T	0.002118	0.01518	T	-0.323749	0.06596	T	-0.702819	0.05673	T	0.0702044814825058	0.08680	T	0.640436	0.25296	T	0.058018755	0.11622	0.039936766	0.04203	0.058018755	0.11621	0.039936766	0.04203	-2.863	0.08778	T	.	.	0.097	0.15966	B	.	.	1.799585	0.22873	15.80	0.79729010569475312	0.12874	0.60683	0.31266	D	AEFGBI	0.073266	0.14648	N	-0.788193952691847	0.13616	0.6721165	-0.638945757862182	0.18496	0.9883327	0.60786250597634	0.21779	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	-0.0285	0.13248	0.282000	0.18587	0.225000	0.16120	-0.145000	0.12313	0.960000	0.33603	0.938000	0.28711	0.937000	0.47636	0.2092:0.0:0.3397:0.4511	7.558	0.27002	202	0.92131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1169.83	34	chr3	113468368	.	G	C	1169.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.604;DP=272;ExcessHet=0;FS=6.801;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.384;SOR=0.275	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1180,0,1204	5	0	1	0
chr3	119191045	119191045	A	G	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A409G:p.N137D	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	.	0.0041	0.0395367	0.0169	0.0012	0.0039	0.1263	0.0011	0.0059	0.0132	0.0296	0.0159894	2472	154602	rs78761311	0.0095	0.0095	0.0089	0.0102	0.1233	0.0094	0.0093	0.1204	0.1192	0.0012	0.0039	0.0189	0.1233	0.0016	0.0206	0.0040	0.0146	0.0320	0.0096	0.0096	0.0087	0.0105	0.1273	0.0092	0.0090	0.1192	0.1160	0.0013	0.0132	0.0056	0.0205	0.1273	0.0008	0.0136	0.0050	0.0132	0.0416	0.551	0.33418	T	0.473	0.13328	T	0.99	0.63424	D	0.86	0.61233	P	0.000054	0.53742	D	0.130780	0.997379	0.43837	D	1.78	0.46185	L	-1.13	0.86815	T	-1.25	0.32791	N	0.484	0.51851	-0.7897	0.55747	T	0.015	0.05946	T	10	0.0016655028	0.00020	T	.	.	.	0.394	0.70924	.	.	.	.	0.8157807269029524	0.81534	0.0496078120372	0.05439	0.483811795712	0.36581	T	0.123975	0.46565	T	-0.3391	0.05451	T	-0.152749	0.59000	T	0.0293694875918715	0.01894	T	0.756624	0.37993	T	0.18363465	0.39641	0.23165466	0.48303	0.18363465	0.39640	0.23165466	0.48302	-3.313	0.13906	T	.	.	0.108	0.26886	B	.;.;.;.;.	.;.;.;.;.	3.760625	0.53956	23.4	0.99692084973768502	0.79977	0.95921	0.66730	D	AEFBI	0.639388	0.61746	D	0.422289372913453	0.62648	4.48438	0.4541350233731	0.64982	4.766575	0.999999992247945	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	4.935000	0.63199	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.525	0.67467	366	0.84579	.;.;.;.;.	.	.	.	.	rs78761311	Uncertain significance	0	0	0	0	0	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	0.030303	0.031250	0.017544	0.050000	0.043103	0.018293	0.026515	0.25	3499.0	89	chr3	119191045	.	A	G	3499.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.149;DP=346;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.242;SOR=0.664	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1062,0,1619	4	1	1	0
chr3	127677531	127677531	C	T	exonic	ABTB1	.	stopgain	ABTB1:NM_032548:exon9:c.C403T:p.R135X,ABTB1:NM_172027:exon9:c.C829T:p.R277X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	8.643e-05	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs751831462	1.71e-05	1.71e-05	1.089e-05	2.338e-05	0.0003	1.174e-05	9.92e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.888e-05	1.656e-05	1.159e-05	3.285e-05	3.283e-05	2.57e-05	4.035e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000073	0.52346	D	0.169729	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.485	0.53181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549807	0.95797	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.215175	0.98626	40	0.99796483607129383	0.88194	0.90436	0.51610	D	AEFDBI	0.159846	0.28570	N	0.831233150744177	0.88014	9.422392	0.69432426285165	0.81945	7.647367	0.999999999063772	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.17	5.17	0.70848	3.911000	0.56091	5.828000	0.50139	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:1.0:0.0:0.0	18.282	0.90041	765	0.49814	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.08333	1285.83	38	chr3	127677531	.	C	T	1285.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.416;DP=277;ExcessHet=0;FS=3.943;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.68;SOR=1.111	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1296,0,1141	5	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	.	.	.	.	.	.	.	.	0.25	961.52	32	chr3	130421335	.	G	C	961.52	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.175;DP=236;ExcessHet=1.383;FS=182.965;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.188;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,15:56:99:0|1:130421335_G_C:389,0,1257:130421335	2	0	2	2
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	.	.	.	.	.	.	.	.	0.375	1026.26	32	chr3	130421337	.	T	C	1026.26	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.712;DP=234;ExcessHet=1.383;FS=182.965;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.211;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,15:56:99:0|1:130421335_G_C:389,0,1257:130421335	1	0	3	2
chr3	131381814	131381814	G	T	exonic	NUDT16	.	nonsynonymous SNV	NUDT16:NM_001171906:exon1:c.G10T:p.A4S,NUDT16:NM_152395:exon1:c.G10T:p.A4S	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0084107981931	.	0.000798722	0.0075	0.0008	0.0082	0.0013	0	0.0086	0	0.0084	0.0015782	244	154602	rs566228366	0.0015	0.0015	0.0014	0.0017	0.0062	0.0015	0.0015	0.0058	0.0056	0.0002	0.0008	0.0143	5.371e-05	0.0002	0.0012	0.0010	0.0024	0.0062	0.0011	0.0011	0.0010	0.0012	0.0044	0.0010	0.0009	0.0029	0.0025	0.0002	0	0.0011	0.0147	0	0.0003	0	0.0010	0.0019	0.0044	1.0	0.20988	T	0.68	0.31629	T	.	.	.	.	.	.	0.270033	0.03766	N	1.689800	1	0.20412	N	-0.145	0.04423	N	.	.	.	0.31	0.04022	N	0.088	0.09914	-1.0824	0.06890	T	0.040	0.17404	T	7	0.0043887794	0.00089	T	0.008411	0.22257	T	0.005	0.00259	.	.	0.0762999501168	0.06990	0.5786727768930194	0.57796	0.385955024302	0.39890	0.582348942757	0.50415	T	0.00717	0.06585	T	-0.640227	0.00083	T	-0.689667	0.06409	T	0.00926562111233584	0.00118	T	0.325967	0.06723	T	0.124960646	0.29307	0.08965003	0.20978	0.124960646	0.29306	0.08965003	0.20977	-4.308	0.28288	T	.	.	0.079	0.12084	B	.;.	.;.	-0.530426	0.01771	0.135	0.65223250361463281	0.07712	0.12321	0.17197	N	ALL	0.049896	0.08668	N	-1.15170376296247	0.05752	0.2630475	-1.32922885384888	0.04057	0.1905713	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.7	-4.56	0.03187	-1.228000	0.03057	-1.515000	0.05266	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.188:0.1298:0.2418:0.4403	1.190	0.01749	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	0	0	0.003067	0.000000	0.002732	0.002976	0.000000	0.000000	0.003125	0.003817	0.08333	341.83	25	chr3	131381814	.	G	T	341.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.817;DP=159;ExcessHet=0;FS=4.501;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.353;SOR=2.007	GT:AD:DP:GQ:PL	0/1:17,11:28:99:352,0,451	5	0	1	0
chr3	151193533	151193533	C	T	exonic	MED12L	.	nonsynonymous SNV	MED12L:NM_053002:exon14:c.C2012T:p.T671I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0128634355791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.126e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.51248	D	0.056	0.62352	T	0.018	0.33761	B	0.043	0.36047	B	0.000103	0.50451	D	0.179331	0.918758	0.36615	D	-0.345	0.03330	N	1.54	0.30133	T	-1.57	0.37955	N	0.067	0.04307	-1.0095	0.27074	T	0.051	0.21611	T	10	0.07755959	0.12256	T	0.012863	0.31797	T	0.078	0.22779	0.28	0.23483	0.043077524339	0.03247	0.33616684302312433	0.33529	0.435720000412	0.43672	0.318627208471	0.13213	T	0.017762	0.14435	T	-0.198575	0.21012	T	-0.523015	0.19990	T	0.920822501182556	0.58018	D	0.824018	0.48674	T	0.07248018	0.16127	0.09933397	0.23714	0.07248018	0.16126	0.09933397	0.23714	-4.278	0.27867	T	.	.	0.1	0.17146	B	.;.;.;.	.;.;.;.	3.350073	0.46200	22.3	0.99475456797376582	0.66579	0.96801	0.71012	D	AEFBI	0.506170	0.53700	D	-0.0527813488549805	0.39477	2.328721	0.159628449751002	0.47654	2.992424	0.999999995339704	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	4.771000	0.62011	4.843000	0.45303	0.580000	0.29708	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.0:1.0:0.0:0.0	19.064	0.93085	710	0.56735	.;.;Mediator complex, subunit Med12, LCEWAV-domain;Mediator complex, subunit Med12, LCEWAV-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	.	.	.	.	.	.	.	.	0.08333	2010.83	36	chr3	151193533	.	C	T	2010.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.571;DP=330;ExcessHet=0;FS=1.273;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.4;SOR=0.588	GT:AD:DP:GQ:PL	0/1:73,77:150:99:2021,0,1900	5	0	1	0
chr3	152456305	152456305	G	A	exonic	MBNL1	.	nonsynonymous SNV	MBNL1:NM_001376844:exon6:c.G724A:p.A242T,MBNL1:NM_001376846:exon6:c.G724A:p.A242T,MBNL1:NM_001376847:exon6:c.G688A:p.A230T,MBNL1:NM_001376848:exon6:c.G619A:p.A207T,MBNL1:NM_207294:exon6:c.G796A:p.A266T,MBNL1:NM_001376830:exon7:c.G1000A:p.A334T,MBNL1:NM_001376831:exon7:c.G1000A:p.A334T,MBNL1:NM_001376838:exon7:c.G850A:p.A284T,MBNL1:NM_001376841:exon7:c.G760A:p.A254T,MBNL1:NM_001376842:exon7:c.G760A:p.A254T,MBNL1:NM_001376845:exon7:c.G724A:p.A242T,MBNL1:NM_207292:exon7:c.G1000A:p.A334T,MBNL1:NM_207295:exon7:c.G832A:p.A278T,MBNL1:NM_001376824:exon8:c.G1054A:p.A352T,MBNL1:NM_001376825:exon8:c.G1054A:p.A352T,MBNL1:NM_001376827:exon8:c.G1036A:p.A346T,MBNL1:NM_001376828:exon8:c.G1036A:p.A346T,MBNL1:NM_001376829:exon8:c.G1036A:p.A346T,MBNL1:NM_001376837:exon8:c.G868A:p.A290T,MBNL1:NM_001376840:exon8:c.G760A:p.A254T,MBNL1:NM_001376843:exon8:c.G760A:p.A254T,MBNL1:NM_021038:exon8:c.G1036A:p.A346T,MBNL1:NM_207293:exon8:c.G1054A:p.A352T,MBNL1:NM_001376820:exon9:c.G1090A:p.A364T,MBNL1:NM_001376821:exon9:c.G1090A:p.A364T,MBNL1:NM_001376822:exon9:c.G1090A:p.A364T,MBNL1:NM_001376823:exon9:c.G1090A:p.A364T,MBNL1:NM_001376826:exon9:c.G1036A:p.A346T,MBNL1:NM_001376839:exon9:c.G814A:p.A272T,MBNL1:NM_001314057:exon10:c.G919A:p.A307T,MBNL1:NM_001376818:exon10:c.G1183A:p.A395T,MBNL1:NM_001376819:exon11:c.G1183A:p.A395T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0134318821411	.	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	3.84e-05	1	26028	rs773149172	6.158e-06	6.156e-06	4.084e-06	8.252e-06	4.472e-05	2.9e-06	2.1e-06	7.41e-06	2.77e-06	0	4.472e-05	0	2.519e-05	0	0	4.497e-06	1.656e-05	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.044	0.42783	D	0.043	0.50226	D	0.999	0.90584	D	0.961	0.80445	D	0.000002	0.62929	D	0.101382	0.999999	0.81001	D	.	.	.	.	.	.	-1.44	0.45769	N	0.787	0.80964	-0.1531	0.78839	T	0.453	0.78650	T	9	0.6441683	0.69229	D	0.013432	0.32827	T	0.337	0.65913	0.277	0.23004	0.525810096056	0.52226	0.6298662670055406	0.62920	1.98726426833	0.93697	0.689875245094	0.65688	T	0.421346	0.77277	T	0.0802638	0.62072	D	-0.122483	0.61599	T	0.782614886760712	0.45214	D	0.923008	0.71997	D	0.20526409	0.42663	0.19999945	0.43909	0.20526409	0.42663	0.19999945	0.43908	-3.371	0.15340	T	.	.	0.123	0.32922	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.567459	0.92191	32	0.99919773425764513	0.98654	0.99636	0.98212	D	AEFGBI	0.873561	0.79599	D	0.817863750067544	0.87209	9.139837	0.818965808157522	0.91078	10.70865	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.51	5.51	0.81769	9.463000	0.96818	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.433	0.94770	817	0.41665	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2661.83	34	chr3	152456305	.	G	A	2661.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=408;ExcessHet=0;FS=0.481;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.906;SOR=0.739	GT:AD:DP:GQ:PL	0/1:129,105:234:99:2672,0,3183	5	0	1	0
chr3	158203173	158203173	G	A	exonic	RSRC1	.	nonsynonymous SNV	RSRC1:NM_001271838:exon4:c.G422A:p.G141D,RSRC1:NM_016625:exon4:c.G422A:p.G141D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00477597659891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.044	0.91255	D	0.065	0.44702	T	0.354	0.33710	B	0.289	0.40655	B	0.002075	0.37317	N	0.292333	1	0.81001	D	1.095	0.27400	L	.	.	.	-1.75	0.66780	N	0.217	0.29429	-0.9297	0.44183	T	0.118	0.41538	T	9	0.14465183	0.27448	T	0.004776	0.11910	T	0.049	0.13647	0.182	0.09004	0.649436034143	0.64652	0.24992038276425038	0.24906	0.0968026728174	0.10928	0.570001363754	0.48678	T	0.080085	0.41611	T	-0.0299844	0.47420	T	-0.280847	0.46717	T	0.453011495484477	0.30907	T	0.756624	0.52334	T	0.074311055	0.16667	0.12139064	0.29288	0.074311055	0.16666	0.12139064	0.29288	-1.544	0.01856	T	.	.	0.243	0.57180	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.116159	0.26937	17.29	0.99443300288607861	0.64870	0.90329	0.51419	D	AEFGI	0.334258	0.43308	N	-0.120494468398573	0.36501	2.110699	-0.0571478882500645	0.37181	2.173635	5.98132739656101E-4	0.07414	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.04	1.98	0.25351	1.138000	0.31103	1.153000	0.24496	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1614:0.583:0.2557	9.32	0.37119	578	0.69858	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	47.83	33	chr3	158203173	.	G	A	47.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.079;DP=232;ExcessHet=0;FS=28.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=0.953;SOR=4.975	GT:AD:DP:GQ:PL	0/1:53,11:64:58:58,0,1404	5	0	1	0
chr3	169795546	169795546	G	C	exonic	LRRC34	.	nonsynonymous SNV	LRRC34:NM_153353:exon9:c.C1034G:p.T345R,LRRC34:NM_001172779:exon10:c.C1130G:p.T377R,LRRC34:NM_001363888:exon10:c.C947G:p.T316R,LRRC34:NM_001370608:exon10:c.C944G:p.T315R	.	.	.	.	.	.	.	.	.	.	.	3696808	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00821379714003	.	.	3.318e-05	0	0	0	0	6.042e-05	0	0	3.88e-05	6	154602	rs779249250	2.534e-05	2.531e-05	2.453e-05	2.615e-05	0.0002	1.869e-05	1.632e-05	1.999e-05	1.742e-05	0	0	0	0	0	0.0002	2.79e-05	3.316e-05	3.482e-05	6.571e-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	0.058	0.37750	T	0.12	0.35970	T	0.006	0.13644	B	0.024	0.20255	B	0.252180	0.15486	N	0.677027	0.910919	0.27508	N	.	.	.	0.67	0.52187	T	-3.44	0.67477	D	0.295	0.33360	-0.9713	0.36925	T	0.119	0.41735	T	10	0.25338554	0.42704	T	0.008214	0.21750	T	0.116	0.32463	.	.	0.534907319155	0.53140	0.3504390605146902	0.34957	0.0789236741469	0.08879	0.423475891352	0.28315	T	.	.	.	-0.269274	0.11838	T	-0.438666	0.28958	T	0.0775960399056568	0.09676	T	0.60154	0.23867	T	0.1690816	0.37403	0.21950306	0.46691	0.1690816	0.37402	0.21950306	0.46690	-5.777	0.44373	T	.	.	0.077	0.09288	B	.;.;.	.;.;.	1.168718	0.15580	11.96	0.948963353572431	0.25743	0.81327	0.40754	D	AEFBI	0.175827	0.30302	N	-0.48846315073853	0.22458	1.199345	-0.451583611419044	0.23504	1.282099	0.0525151714780333	0.14909	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.29	3.46	0.38718	0.527000	0.22695	1.200000	0.24830	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.1953:0.0:0.6736:0.1312	6.880	0.23348	472	0.77968	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1389.83	34	chr3	169795546	.	G	C	1389.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.014;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.227;SOR=0.768	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1400,0,1425	5	0	1	0
chr3	186539580	186539580	G	T	exonic	CRYGS	.	nonsynonymous SNV	CRYGS:NM_017541:exon2:c.C39A:p.D13E	Cataract 20, multiple types, Autosomal dominant	423	1084	15	0	0	15	0.00687128	.	.	.	691348	Cataract_20_multiple_types|not_provided|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0010922,MONDO:MONDO:0007284,MedGen:C0524524,OMIM:116100,Orphanet:91492|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.187	0.0128625011394	0.0008	.	0.0005	0	0.0004	0	0.0002	0.0006	0.0022	0.0009	0.0005045	78	154602	rs147971015	0.0004	0.0004	0.0004	0.0004	0.0038	0.0004	0.0004	0.0026	0.0022	0.0002	0.0004	0.0051	2.519e-05	0.0001	0.0038	0.0003	0.0009	0.0007	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0004	0.0003	0.0001	0	0.0007	0.0084	0.0002	0	0.0034	0.0003	0.0005	0.0004	0.169	0.22920	T	0.387	0.15650	T	0.001	0.07471	B	0.009	0.14300	B	0.000001	0.62929	U	0.000000	0.970701	0.38817	D	.	.	.	-0.85	0.74371	T	-2.99	0.62151	D	0.264	0.29889	-0.7614	0.57329	T	0.262	0.63307	T	10	0.015340984	0.00322	T	0.012863	0.31797	T	0.187	0.46274	0.486	0.56939	0.83842865877	0.83688	0.4817698219512658	0.48096	0.13621368345	0.15359	0.530252754688	0.43070	T	0.560505	0.85279	D	-0.409622	0.01999	T	-0.433975	0.29485	T	0.0290319918323495	0.01842	T	0.854015	0.53996	D	0.67831224	0.76878	0.44590557	0.67723	0.67831224	0.76879	0.44590557	0.67723	-6.877	0.53129	T	0.1850804401560048	0.24034	0.37	0.58084	A	.;.	.;.	2.188719	0.27903	17.62	0.98702078544385008	0.44924	0.90115	0.51042	D	AEFBI	0.412754	0.48270	N	-0.179809111056982	0.33977	1.93384	-0.0158909368517836	0.38997	2.305634	0.999967517401793	0.48965	0.615465	0.37627	0	0.633563	0.54681	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.91	4.12	0.47504	2.200000	0.42358	1.580000	0.27469	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0825:0.3375:0.58:0.0	8.374	0.31593	778	0.48011	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.002924	0.000000	0.017241	0.006098	0.003788	0.08333	3308.83	33	chr3	186539580	.	G	T	3308.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=461;ExcessHet=0;FS=3.05;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.305;SOR=0.523	GT:AD:DP:GQ:PL	0/1:131,124:255:99:3319,0,3482	5	0	1	0
chr3	195733202	195733202	G	A	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon4:c.G2114A:p.R705H,MUC20:NM_001291833:exon6:c.G1601A:p.R534H,MUC20:NM_020790:exon6:c.G1658A:p.R553H,MUC20:NM_152673:exon6:c.G1601A:p.R534H	.	420	1091	11	0	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0013	0.000998403	0.0046	0.0011	0.0004	0	0.0165	0.0046	0.0049	0.0055	0.0020569	318	154602	rs140657826	0.0026	0.0026	0.0026	0.0026	0.0040	0.0025	0.0025	0.0036	0.0035	0.0005	0.0002	0.0002	7.882e-05	0.0142	0.0021	0.0022	0.0027	0.0040	0.0026	0.0027	0.0023	0.0030	0.0033	0.0024	0.0023	0.0025	0.0023	0.0007	0	6.532e-05	0.0003	0	0.0154	0	0.0028	0.0005	0.0033	0.173	0.22573	T	0.133	0.34359	T	0.73	0.42641	P	0.144	0.33818	B	0.606453	0.10908	N	0.774714	0.999986	0.22840	N	1.355	0.33814	L	2.69	0.17596	T	-1.25	0.43149	N	0.161	0.25130	-1.0228	0.22802	T	0.022	0.09421	T	10	0.004782319	0.00101	T	.	.	.	0.028	0.06331	.	.	0.0138822411134	0.00435	0.056067761531843605	0.05547	.	.	0.3369795084	0.15985	T	0.010568	0.21799	T	-0.565819	0.00234	T	-0.58568	0.14043	T	0.0124333312482588	0.00204	T	0.646635	0.25786	T	0.031904172	0.03116	0.03558535	0.02838	0.031904172	0.03116	0.03558535	0.02838	-7.262	0.55925	T	.	.	0.126	0.26825	B	.;.;.	.;.;.	1.723419	0.21940	15.41	0.96356972786076622	0.29537	0.03308	0.08369	N	AEFDBHIJ	0.044540	0.07179	N	-0.564749849478855	0.20023	1.052514	-0.630300346832089	0.18716	1.001062	0.13784193717457	0.17216	0.549168	0.22868	0	0.588015	0.36545	0	0.573078	0.19857	0	0.616125	0.45549	0	.	.	4.24	1.46	0.21769	0.578000	0.23476	-0.924000	0.06908	0.663000	0.56723	0.200000	0.24308	0.000000	0.08366	0.025000	0.12405	0.3335:0.0:0.6665:0.0	5.816	0.17756	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.08333	1259.83	35	chr3	195733202	.	G	A	1259.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.55;DP=287;ExcessHet=0;FS=5.89;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.488;SOR=1.263	GT:AD:DP:GQ:PL	0/1:67,50:117:99:1270,0,1584	5	0	1	0
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13344.4	105	chr3	195779882	.	G	*	13344.4	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.59;DP=1398;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=59.1;MQRankSum=-0.328;QD=11.75;ReadPosRankSum=-0.314;SOR=0.69	GT:AD:DP:GQ:PL	1/1:5,195:200:99:8391,527,0	3	3	0	0
chr3	195780254	195780254	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11326T:p.P3776S,MUC4:NM_001322468:exon15:c.C9886T:p.P3296S	.	410	1102	9	0	1	10	0.00406688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00199681	0.0159	0.0120	0.0148	0.0028	0	0.0163	0.008	0.0218	6.47e-05	10	154602	rs578036922	0.0001	0.0015	9.385e-05	0.0001	0.0006	9.611e-05	9.058e-05	0.0004	0.0004	6.533e-05	8.679e-05	8.169e-05	0.0006	0.0002	0.0005	9.101e-05	8.828e-05	9.01e-05	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	9.747e-05	0.0003	0	0.0003	0	0	0.0002	0	0.0002	0.0021	0.0002	0.374	0.11478	T	0.781	0.04316	T	.	.	.	.	.	.	0.682961	0.10243	U	0.517672	1	0.18878	N	.	.	.	1.66	0.31205	T	-0.3	0.14390	N	0.029	0.01658	-1.0257	0.21853	T	0.033	0.14247	T	8	0.004255682	0.00085	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.0013621205608347429	0.00126	.	.	0.456905126572	0.32887	T	.	.	.	-0.376206	0.03291	T	-0.778171	0.02509	T	0.00735284016896887	0.00084	T	0.643636	0.25529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05103	B	.;.	.;.	0.211663	0.05949	2.391	0.94469296694473404	0.24916	0.00891	0.03504	N	AEFBCI	0.063293	0.12223	N	-1.86699940324581	0.00401	0.01724251	-1.97499171260156	0.00346	0.01526553	1.6836304562597E-4	0.05721	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-1.343000	0.02749	-5.503000	0.01695	-1.353000	0.01189	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3343:0.0:0.6657:0.0	4.606	0.11768	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	234.06	492	chr3	195780254	.	G	A	234.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.24;DP=1444;ExcessHet=0.4139;FS=51.531;MLEAC=2;MLEAF=0.167;MQ=56.89;MQRankSum=-4.767;QD=1.23;ReadPosRankSum=-1.876;SOR=5.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,8:86:49:0|1:195780165_C_G:49,0,3052:195780165	4	0	2	0
chr3	195783391	195783391	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8189A:p.S2730Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000404150148124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.339e-06	1.705e-05	4.449e-06	2.227e-06	4.016e-05	8.9e-07	2.5e-07	.	.	0	4.016e-05	5.59e-05	0	2.721e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.97	0.27876	N	0.123	0.11483	-1.0081	0.27510	T	0.048	0.20355	T	6	0.09094933	0.15889	T	4.04E-4	0.00071	T	0.012	0.01476	0.236	0.16608	0.101711395817	0.09552	1.2862146188729878E-5	0.00001	.	.	0.531352460384	0.43226	T	.	.	.	-0.276882	0.11002	T	-0.635498	0.10000	T	0.106647939296188	0.13073	T	0.854315	0.54093	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32613	B	.;.	.;.	1.415082	0.18313	13.67	0.28369215759524363	0.01453	0.00436	0.02133	N	AEFBI	0.056814	0.10532	N	-1.01787318366989	0.08233	0.3852902	-1.23581631101255	0.05344	0.2544087	1.82086757490705E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-2.03	0.06959	-1.233000	0.03043	0.258000	0.16510	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.0:0.6795:0.3205	5.544	0.16340	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	66.09	54	chr3	195783391	.	G	T	66.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.036;DP=439;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.1;MQ=48.24;MQRankSum=1.65;QD=13.22;ReadPosRankSum=-0.524;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:195783391_G_T:75,0,120:195783391	3	0	2	1
chr3	195784460	195784460	A	0	exonic	MUC4	.	.	.	.	1145	92	157	109	19	394	0.670841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	51972.0	904	chr3	195784460	.	A	*	51972.0	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.14;DP=4666;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=57.51;MQRankSum=-0.672;QD=24.69;ReadPosRankSum=0.496;SOR=0.702	GT:AD:DP:GQ:PL	1/0:2,207:983:99:29407,23566,32925	1	0	2	3
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1203.96	297	chr3	195784575	.	C	*	1203.96	.	AC=3;AF=0.5;AN=6;BaseQRankSum=2.29;DP=2979;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=54.6;MQRankSum=4.3;QD=1.15;ReadPosRankSum=1.87;SOR=0.557	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,436:475:16:1|1:195784574_GC_G:28264,2263,0:195784574	1	1	1	3
chr3	195784594	195784594	G	0	exonic	MUC4	.	.	.	.	11	191	8	0	16	24	0.0205128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1290.83	246	chr3	195784594	.	G	*	1290.83	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.14;DP=2647;ExcessHet=0;FS=3.189;MLEAC=3;MLEAF=0.3;MQ=54.27;MQRankSum=4.3;QD=1.23;ReadPosRankSum=2.66;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,436:475:16:1|1:195784574_GC_G:28001,2236,0:195784574	3	1	1	1
chr3	195784627	195784632	GCGTGA	0	exonic	MUC4	.	.	.	.	446	999	5	0	72	77	0.00249626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	594.24	132	chr3	195784627	.	GCGTGA	*	594.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.297;DP=2748;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=54.84;MQRankSum=3.08;QD=0.51;ReadPosRankSum=1.41;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,436:467:99:1|1:195784574_GC_G:28002,2277,0:195784574	4	1	1	0
chr3	195784637	195784680	TGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	180.24	132	chr3	195784637	.	TGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	*	180.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.771;DP=3078;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.24;MQRankSum=3.68;QD=0.16;ReadPosRankSum=2.39;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,436:459:99:1|1:195784574_GC_G:27575,2076,0:195784574	4	1	1	0
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13571.1	172	chr3	195784652	.	C	*	13571.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.14;DP=3111;ExcessHet=0.7136;FS=0.688;MLEAC=4;MLEAF=0.333;MQ=54.14;MQRankSum=-7.864;QD=7.75;ReadPosRankSum=0.365;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,436:459:99:1|1:195784574_GC_G:27575,2076,0:195784574	4	2	0	0
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13679.1	178	chr3	195784654	.	T	*	13679.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.01;DP=3119;ExcessHet=0.7136;FS=0.685;MLEAC=4;MLEAF=0.333;MQ=54.24;MQRankSum=-7.731;QD=7.75;ReadPosRankSum=0.533;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,436:459:99:1|1:195784574_GC_G:27575,2076,0:195784574	4	2	0	0
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13674.1	178	chr3	195784655	.	C	*	13674.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.27;DP=3122;ExcessHet=0.7136;FS=0.685;MLEAC=4;MLEAF=0.333;MQ=54.24;MQRankSum=-7.66;QD=7.76;ReadPosRankSum=0.557;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,436:459:99:1|1:195784574_GC_G:27575,2076,0:195784574	4	2	0	0
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22741.6	333	chr3	195784719	.	A	*	22741.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.327;DP=4540;ExcessHet=0.1336;FS=0.804;MLEAC=4;MLEAF=0.333;MQ=57.2;MQRankSum=-4.212;QD=8.93;ReadPosRankSum=-1.853;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,914:932:99:1|1:195784574_GC_G:29072,2764,0:195784574	4	2	0	0
chr3	195785437	195785437	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6143A:p.P2048H,MUC4:NM_001322468:exon6:c.C6143A:p.P2048H	.	447	1069	0	2	4	8	0.00186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00201068428208	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781754499	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	6.429e-05	0	8.323e-05	0	0.0023	0	0.0001	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	2.519e-05	0	0	0	0	0.0010	0	0.0003	0	0.0002	0.0	0.91255	D	0.107	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.31987	T	-0.2	0.10136	N	0.107	0.09207	-1.0058	0.28216	T	0.030	0.12848	T	6	0.055903792	0.06182	T	0.002011	0.03642	T	0.019	0.03383	.	.	0.0138822411134	0.00435	1.2924115843814766E-4	0.00011	.	.	0.52127122879	0.41805	T	.	.	.	-0.277298	0.10956	T	-0.636096	0.09957	T	0.0474089427526406	0.05038	T	0.548745	0.18852	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25785	B	.;.	.;.	1.440292	0.18595	13.82	0.88505193980125174	0.18029	0.01029	0.03860	N	AEFBCI	0.051259	0.09038	N	-1.24720308106973	0.04336	0.1955305	-1.35179852953206	0.03785	0.1772574	1.17531293679699E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.408000	0.34277	1.170000	0.24618	0.061000	0.17545	0.007000	0.17678	0.001000	0.17328	0.023000	0.12082	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2134.7	790	chr3	195785437	.	G	T	2134.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.054;DP=2538;ExcessHet=0;FS=0.531;MLEAC=1;MLEAF=0.1;MQ=55.27;MQRankSum=-1.512;QD=8.86;ReadPosRankSum=-4.089;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,64:241:99:0|1:195785364_T_C:2144,0,7253:195785364	4	0	1	1
chr3	195785443	195785443	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A6137C:p.D2046A,MUC4:NM_001322468:exon6:c.A6137C:p.D2046A	.	450	1058	12	1	1	15	0.00657277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.003604254882	.	.	0.0012	0.0017	0	0	0.0023	0.0012	0	0.0009	0.0002393	37	154602	rs202129397	0.0003	0.0008	0.0003	0.0003	0.0008	0.0003	0.0003	0.0007	0.0006	0.0006	0	0.0003	0.0002	0.0024	0.0003	0.0002	0.0004	0.0008	0.0015	0.0030	0.0015	0.0016	0.0023	0.0014	0.0013	0.0017	0.0015	0.0021	0	0.0006	0.0007	0.0018	0.0017	0.0081	0.0014	0.0013	0.0023	0.318	0.13654	T	0.091	0.40426	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.53	0.30401	T	-0.2	0.10136	N	0.063	0.03502	-1.0198	0.23780	T	0.025	0.10509	T	6	0.007986397	0.00181	T	0.003604	0.08247	T	0.015	0.02232	.	.	0.0138822411134	0.00435	1.8720344249421197E-4	0.00016	.	.	0.493286401033	0.37895	T	.	.	.	-0.334697	0.05763	T	-0.718545	0.04867	T	0.00152941396766075	0.00015	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00229	B	.;.	.;.	0.397842	0.07692	4.366	0.94009402321113822	0.24110	0.00248	0.01370	N	AEFBCI	0.018914	0.00612	N	-2.0308230204244	0.00181	0.007772685	-2.11456447948871	0.00173	0.007623546	1.15454920013229E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.621000	0.05655	-5.708000	0.01623	-2.415000	0.00290	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006716	0.000000	0.007282	0.010101	0.000000	0.000000	0.003846	0.004854	0.2	5416.77	790	chr3	195785443	.	T	G	5416.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=5.43;DP=2592;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.2;MQ=55.98;MQRankSum=-0.043;QD=10.03;ReadPosRankSum=1.58;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,62:236:99:0|1:195785364_T_C:2069,0,7112:195785364	3	0	2	1
chr3	195785445	195785445	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G6135C:p.Q2045H,MUC4:NM_001322468:exon6:c.G6135C:p.Q2045H	.	476	1040	4	1	1	7	0.00287632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00230392183033	.	.	0.0001	0	0	0	0	0.0003	0	0	3.88e-05	6	154602	rs778025830	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	6.49e-05	0	8.501e-05	2.92e-05	0.0023	0	0.0001	0.0003	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0.0011	0	0.0003	0	0.0002	0.166	0.23183	T	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.29	0.37578	T	-0.27	0.11366	N	0.053	0.04668	-1.0418	0.16770	T	0.028	0.11971	T	6	0.025753945	0.00760	T	0.002304	0.04424	T	0.019	0.03383	0.186	0.09517	0.0138822411134	0.00435	2.668964189333766E-4	0.00023	.	.	0.553018987179	0.46284	T	.	.	.	-0.329979	0.06113	T	-0.711769	0.05204	T	0.0250923404852311	0.01285	T	0.618838	0.23746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21503	B	.;.	.;.	-0.175811	0.03215	0.536	0.271917780216337	0.01338	0.00112	0.00708	N	AEFBCI	0.022193	0.01079	N	-1.97504517995062	0.00239	0.01025281	-2.07382485738277	0.00212	0.00935824	4.04866484404787E-4	0.06860	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-5.284000	0.00160	-3.091000	0.03069	-2.484000	0.00269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2127.7	790	chr3	195785445	.	C	G	2127.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.838;DP=2528;ExcessHet=0;FS=5.149;MLEAC=1;MLEAF=0.1;MQ=56.18;MQRankSum=0.325;QD=8.94;ReadPosRankSum=-2.103;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,64:238:99:0|1:195785364_T_C:2137,0,7073:195785364	4	0	1	1
chr4	508952	508952	G	T	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon3:c.G484T:p.A162S,PIGG:NM_001127178:exon5:c.G883T:p.A295S,PIGG:NM_001289051:exon5:c.G616T:p.A206S,PIGG:NM_001289053:exon5:c.G616T:p.A206S,PIGG:NM_001289057:exon5:c.G616T:p.A206S,PIGG:NM_001345986:exon5:c.G616T:p.A206S,PIGG:NM_001345987:exon5:c.G616T:p.A206S,PIGG:NM_001345989:exon5:c.G883T:p.A295S,PIGG:NM_017733:exon5:c.G883T:p.A295S,PIGG:NM_001289055:exon6:c.G517T:p.A173S	Mental retardation, autosomal recessive 53, Autosomal recessive	431	1089	2	0	0	2	0.000917431	.	.	.	453479	not_provided|Intellectual_disability,_autosomal_recessive_53	MedGen:C3661900|MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	.	0.00359425	0.0022	9.641e-05	8.654e-05	0.0001	0	0	0.0011	0.0161	0.0019081	295	154602	rs201853289	0.0009	0.0009	0.0005	0.0013	0.0148	0.0009	0.0009	0.0141	0.0138	0	0	0	0	0	0.0009	6.3e-06	0.0010	0.0148	0.0006	0.0006	0.0004	0.0007	0.0170	0.0005	0.0004	0.0141	0.0130	4.812e-05	0	0	0	0	0	0	2.941e-05	0	0.0170	0.069	0.35537	T	0.637	0.14034	T	0.087	0.39274	B	0.138	0.41825	B	0.000632	0.42799	N	0.263398	0.996207	0.45440	D	0.845	0.21182	L	1.57	0.29342	T	-1.18	0.32387	N	0.158	0.22486	-1.1136	0.02778	T	0.051	0.21650	T	10	0.00865224	0.00196	T	.	.	.	0.034	0.08419	0.492	0.57890	0.549839970675	0.54641	0.5383590374740971	0.53760	0.296311225243	0.32018	0.38789588213	0.23374	T	0.00878	0.12555	T	-0.526658	0.00402	T	-0.51696	0.20602	T	0.0130494112351107	0.00228	T	0.785921	0.42665	T	0.08472385	0.19623	0.09147753	0.21510	0.09716326	0.22897	0.08380412	0.19233	-7.124	0.54933	T	0.43623564536683135	0.52253	0.076	0.12084	B	.;.;.;.;.;.	.;.;.;.;.;.	3.387043	0.46878	22.4	0.96117647886814139	0.28762	0.94792	0.62345	D	AEFBI	0.434366	0.49545	N	-0.222357876124866	0.32217	1.814583	-0.0630850959321029	0.36929	2.155549	0.995456201603228	0.34136	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	3.77	0.42499	2.718000	0.46904	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0:0.0:0.6402:0.3598	12.442	0.54967	809	0.43032	.;GPI ethanolamine phosphate transferase 2, N-terminal;GPI ethanolamine phosphate transferase 2, N-terminal;.;.;GPI ethanolamine phosphate transferase 2, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.08333	858.83	38	chr4	508952	.	G	T	858.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.871;DP=255;ExcessHet=0;FS=6.26;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.664;SOR=1.421	GT:AD:DP:GQ:PL	0/1:40,35:75:99:869,0,1042	5	0	1	0
chr4	625758	625758	C	G	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon1:c.C132G:p.C44W,PDE6B:NM_001145291:exon1:c.C132G:p.C44W	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	190239	not_provided|not_specified|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	.	.	0.00319489	0.0016	0	8.708e-05	0.0001	0	0	0.0011	0.0115	0.0013777	213	154602	rs199974771	0.0006	0.0006	0.0003	0.0010	0.0105	0.0006	0.0006	0.0099	0.0097	2.987e-05	0	0	0	0	0.0003	6.296e-06	0.0006	0.0105	0.0005	0.0005	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0139	0.184	0.21634	T	0.185	0.28958	T	0.912	0.50421	P	0.218	0.37679	B	0.006034	0.32324	N	0.318938	0.99999	0.08975	N	1.61	0.41143	L	-0.03	0.63077	T	-0.94	0.25118	N	0.319	0.38950	-0.9646	0.38290	T	0.129	0.43848	T	10	0.0037167966	0.00069	T	.	.	.	0.126	0.34673	0.366	0.37361	0.687922634686	0.68525	0.3606347626133931	0.35977	0.414536822146	0.42131	0.467083126307	0.34281	T	0.335312	0.70494	T	-0.44387	0.01227	T	-0.40097	0.33271	T	0.018287768760397	0.00547	T	0.355164	0.08047	T	0.07152626	0.15843	0.07974917	0.17979	0.061000917	0.12582	0.08701769	0.20198	-4.392	0.29503	T	0.15711441266361234	0.18950	0.117	0.24498	B	.;.	.;.	0.334897	0.07086	3.659	0.61430163978174157	0.06707	0.20125	0.20924	N	AEFBI	0.384002	0.46529	N	-0.645089376795992	0.17603	0.907235	-0.790932096402791	0.14717	0.7704507	0.924563005598333	0.26783	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.98	0.577	0.16569	0.018000	0.13315	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4514:0.0:0.5486	8.130	0.30179	803	0.44167	.;.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1343.83	35	chr4	625758	.	C	G	1343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.172;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=1.35;SOR=0.635	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1354,0,1080	5	0	1	0
chr4	947843	947843	G	A	exonic	TMEM175	.	nonsynonymous SNV	TMEM175:NM_032326:exon2:c.G104A:p.R35H	.	421	1100	1	0	0	1	0.000454339	.	.	.	3613527	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.793	0.358247144127	.	.	2.495e-05	0	0	0	0.0002	3.039e-05	0	0	1.94e-05	3	154602	rs755453723	1.232e-05	1.3e-05	6.81e-06	1.788e-05	0.0002	7.7e-06	6.35e-06	2.995e-05	2.038e-05	0	0	0	0	1.897e-05	0.0002	8.094e-06	1.656e-05	6.956e-05	2.628e-05	2.626e-05	2.569e-05	2.69e-05	6.54e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	0.999868	0.81001	D	3.09	0.87444	M	-0.09	0.64086	T	-4.24	0.77470	D	0.878	0.87590	-0.0174	0.81892	T	0.457	0.78854	T	10	0.9776528	0.97605	D	0.358247	0.92445	D	0.793	0.93188	0.914	0.98346	0.650117735122	0.64721	0.8779724536895948	0.87764	0.7397739539	0.63186	0.685259521008	0.65025	T	0.317	0.68822	T	0.222781	0.76038	D	0.263761	0.86271	D	0.99241977930069	0.82888	D	0.887811	0.61653	D	0.8783314	0.89530	0.8439832	0.91102	0.8783314	0.89531	0.8439832	0.91102	-12.534	0.87355	D	.	.	0.571	0.75478	P	.;.;.;.	.;.;.;.	5.444119	0.90971	32	0.99956791829543667	0.99981	0.99055	0.90567	D	AEFDBI	0.897330	0.83938	D	0.878381979677464	0.90660	10.50629	0.827865231790282	0.91660	11.00082	0.999999997552461	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.09	5.09	0.68647	4.979000	0.63525	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:0.0:1.0:0.0	14.405	0.66645	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1346.83	52	chr4	947843	.	G	A	1346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.723;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.995;SOR=0.681	GT:AD:DP:GQ:PL	0/1:56,51:107:99:1357,0,1427	5	0	1	0
chr4	1737610	1737610	C	T	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon10:c.C1849T:p.P617S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0119839897747	.	.	0.0002	0	0	0	0	0.0003	0	0	5.82e-05	9	154602	rs769227637	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	0	0	0	0	0.0002	0.0008	0.0004	2.664e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	0.0001	0	0	0	0	0.0004	0	0	0.106	0.29688	T	0.041	0.50514	D	0.998	0.73220	D	0.862	0.61339	P	0.155462	0.17829	N	0.396912	1	0.08975	N	0.975	0.24501	L	2.88	0.10291	T	-3.17	0.64363	D	0.132	0.12770	-1.0545	0.13172	T	0.039	0.16935	T	10	0.119917035	0.22702	T	0.011984	0.30135	T	0.038	0.09825	.	.	0.301789629655	0.29801	0.27866409838710066	0.27779	0.112956299353	0.12750	0.412357717752	0.26783	T	0.286452	0.65924	T	-0.604624	0.00137	T	-0.665905	0.07873	T	0.041165037770669	0.03901	T	0.267173	0.04416	T	0.032341078	0.03241	0.0486145	0.07258	0.032341078	0.03241	0.0486145	0.07257	-3.367	0.14615	T	.	.	0.081	0.08033	B	.	.	0.555373	0.09238	6.022	0.99107600902251847	0.52648	0.12002	0.16998	N	AEFBCI	0.045509	0.07451	N	-0.736505845893636	0.15002	0.7522635	-0.881457356104698	0.12534	0.6452659	0.999661877271272	0.41534	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.86	1.15	0.19876	-0.404000	0.07267	-1.010000	0.06616	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5475:0.1701:0.2823	4.605	0.11763	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	827.83	34	chr4	1737610	.	C	T	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.41;DP=268;ExcessHet=0;FS=1.877;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.436;SOR=1.022	GT:AD:DP:GQ:PL	0/1:55,32:87:99:838,0,1312	5	0	1	0
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	0.1667	2077.06	36	chr4	2832353	.	C	T	2077.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.08;DP=328;ExcessHet=0.4139;FS=4.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.34;SOR=0.433	GT:AD:DP:GQ:PL	0/1:23,39:62:99:950,0,491	4	0	2	0
chr4	3493203	3493203	A	C	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001256896:exon4:c.A287C:p.D96A,DOK7:NM_001363811:exon5:c.A785C:p.D262A,DOK7:NM_001301071:exon7:c.A1217C:p.D406A,DOK7:NM_173660:exon7:c.A1217C:p.D406A	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.660	0.747982537129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	2.727e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	2.522e-05	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.941	0.52883	P	0.531	0.48577	P	0.000004	0.62929	D	0.059077	0.978192	0.81001	D	2.395	0.69210	M	-1.2	0.78537	T	-5.81	0.88224	D	0.741	0.74098	0.318	0.87843	D	0.614	0.86334	D	10	0.75508904	0.75922	D	0.747983	0.97988	D	0.660	0.87283	0.447	0.50629	0.884373466241	0.88323	0.7056341543468009	0.70505	0.0175363588794	0.01705	0.64201772213	0.58851	T	0.601065	0.87215	D	-0.0108172	0.50152	T	-0.0808569	0.64841	T	0.980637192726135	0.73466	D	0.876912	0.59601	D	0.5881932	0.72053	0.4346186	0.66975	0.5881932	0.72054	0.4346186	0.66975	-7.767	0.59471	D	0.8094297760728245	0.88468	0.561	0.72287	A	.;.;.	.;.;.	3.919089	0.57202	23.8	0.99152540238696629	0.53848	0.62533	0.31810	D	AEFDBCI	0.234075	0.35689	N	0.309353032399032	0.56626	3.827759	0.202581184877787	0.49989	3.19586	0.99999059972176	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	3.77	3.77	0.42499	2.640000	0.46245	10.539000	0.83417	0.653000	0.53440	0.997000	0.40164	1.000000	0.68203	0.021000	0.11733	1.0:0.0:0.0:0.0	11.900	0.51956	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2562.06	40	chr4	3493203	.	A	C	2562.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.13;DP=337;ExcessHet=0.4139;FS=0.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.57;SOR=0.766	GT:AD:DP:GQ:PL	0/1:50,38:88:99:1023,0,1368	4	0	2	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1003.86	111	chr4	6862306	.	T	C	1003.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.38;DP=673;ExcessHet=6.1542;FS=211.761;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=0.542;SOR=10.035	GT:AD:DP:GQ:PL	0/1:105,40:145:99:180,0,2396	0	0	5	1
chr4	8392341	8392341	T	G	exonic	ACOX3	.	nonsynonymous SNV	ACOX3:NM_001375789:exon10:c.A1007C:p.Y336S,ACOX3:NM_001101667:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375783:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375784:exon11:c.A1220C:p.Y407S,ACOX3:NM_001375785:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375786:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375787:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375788:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375790:exon11:c.A1292C:p.Y431S,ACOX3:NM_003501:exon11:c.A1292C:p.Y431S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.800	0.0897392710392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760192603	2.097e-06	2.736e-06	2.78e-06	1.407e-06	0.0002	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	3.398e-05	0	6.569e-06	6.567e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.001635	0.38439	N	0.222293	1	0.81001	D	4.11	0.97368	H	-1.13	0.77719	T	-8.7	0.97637	D	0.942	0.95956	0.726	0.93496	D	0.742	0.91177	D	10	0.9531937	0.94665	D	0.089739	0.75385	D	0.800	0.93464	0.813	0.92857	0.975632822895	0.97536	0.921681359029239	0.92144	0.589955309425	0.54475	0.711280882359	0.68778	T	0.819331	0.95565	D	0.427034	0.91381	D	0.375629	0.91275	D	0.999425768852234	0.97351	D	0.957404	0.83962	D	0.6483673	0.75277	0.66440296	0.80326	0.6483673	0.75278	0.66440296	0.80326	-13.242	0.90334	D	.	.	0.885	0.81758	P	.;.;.	.;.;.	4.641863	0.73902	26.1	0.98978964652790213	0.49700	0.52202	0.29075	D	AEFGBHCIJ	0.769713	0.70488	D	0.848924320137188	0.89046	9.813688	0.699765880029145	0.82359	7.747931	1.0	0.98316	0.730579	0.87903	0	0.623108	0.53289	0	0.693117	0.63056	0	0.648885	0.59868	0	.	.	4.14	4.14	0.47821	7.189000	0.77281	5.805000	0.49965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	12.302	0.54199	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1700.06	35	chr4	8392341	.	T	G	1700.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.56;DP=297;ExcessHet=0.4139;FS=3.708;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.213;SOR=0.628	GT:AD:DP:GQ:PL	0/1:37,39:76:99:983,0,875	4	0	2	0
chr4	9176034	9176034	G	C	exonic	FAM90A26	.	nonsynonymous SNV	FAM90A26:NM_001358418:exon4:c.G1262C:p.G421A	.	1317	203	0	2	0	4	0.0097561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00108803294706	.	.	0.0003	0	0	0	0	0.0006	0	0	2.59e-05	4	154602	rs776320879	0.0003	0.0001	0.0003	0.0003	0.0070	0.0003	0.0002	0.0024	0.0014	0	0	0	0	0	0.0070	0.0003	0.0012	9.145e-05	0.0004	0.0004	0.0007	0.0002	0.0009	0.0002	0.0002	0.0005	0.0004	0	0	0	0	0	0	0	0.0009	0	0	0.557	0.06441	T	0.606	0.07791	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-0.25	0.11008	N	0.108	0.09349	-0.9446	0.41879	T	0.012	0.04463	T	5	0.041347623	0.02782	T	0.001088	0.01287	T	0.052	0.14661	0.085	0.00830	0.0482279557977	0.04254	0.007686523222246897	0.00734	.	.	.	.	.	.	.	.	-0.389137	0.02725	T	-0.796745	0.01985	T	0.0282236134301884	0.01721	T	0.484552	0.14745	T	0.08914007	0.20816	0.099526316	0.23766	0.08914007	0.20816	0.099526316	0.23765	-3.497	0.16389	T	.	.	0.103	0.18456	B	.	.	1.468459	0.18922	14.00	0.97001827149851538	0.31945	0.00454	0.02197	N	AEFI	0.031438	0.03364	N	-0.87999827796498	0.11319	0.5456134	-1.07998750467219	0.08094	0.3965235	2.08968640715857E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.581	0.581	0.16590	0.319000	0.19270	.	.	0.315000	0.19243	0.013000	0.18845	0.001000	0.17328	0.010000	0.09038	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	697.68	.	chr4	9176034	.	G	C	697.68	.	AC=4;AF=1;AN=4;DP=22;ExcessHet=0;FS=0;MLEAC=6;MLEAF=1;MQ=54.23;QD=34.88;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,14:14:42:487,42,0	0	2	0	4
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del	.	3	1480	38	1	0	40	0.0133333	.	.	.	207124	CEP135-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022796	0.036082	0.024523	0.017544	0.000000	0.025862	0.033742	0.007576	0.1667	2449.03	75	chr4	55965812	.	AAAG	A	2449.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.903;DP=330;ExcessHet=0.4139;FS=4.036;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.514;SOR=0.44	GT:AD:DP:GQ:PL	0/1:60,37:97:99:1346,0,2408	4	0	2	0
chr4	56911023	56911023	G	A	exonic	REST	.	nonsynonymous SNV	REST:NM_001193508:exon2:c.G385A:p.G129S,REST:NM_001363453:exon2:c.G385A:p.G129S,REST:NM_005612:exon2:c.G385A:p.G129S	.	.	.	.	.	.	.	.	.	.	.	3185708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00327922272734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.188	0.30143	T	0.003	0.11197	B	0.008	0.13708	B	0.243503	0.15660	N	0.624316	0.999994	0.08975	N	0.345	0.11182	N	3.27	0.06602	T	0.83	0.01787	N	0.079	0.07811	-0.9840	0.34069	T	0.016	0.06664	T	10	0.074982494	0.11530	T	0.003279	0.07268	T	0.017	0.02790	0.298	0.26362	0.24933006939	0.24537	0.21812488196502086	0.21728	0.255728341841	0.28159	0.318803995848	0.13240	T	0.006249	0.37538	T	-0.343368	0.05158	T	-0.731001	0.04282	T	0.0514121815663393	0.05746	T	0.820618	0.47957	T	0.055186056	0.10690	0.07922382	0.17815	0.055186056	0.10690	0.07922382	0.17815	-2.969	0.09851	T	.	.	0.092	0.13503	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.494052	0.19214	14.15	0.97096360753996747	0.32349	0.84604	0.43688	D	AEFDBI	0.127731	0.24521	N	-0.675066884671733	0.16734	0.8551689	-0.541831177305057	0.21022	1.135345	0.999724643607526	0.42220	0.722319	0.85440	0	0.685571	0.66316	0	0.26897	0.05253	2	0.735409	0.98432	0	.	.	6.02	1.87	0.24559	1.028000	0.29734	2.001000	0.30122	-0.153000	0.12021	0.015000	0.19116	0.766000	0.26662	0.598000	0.31338	0.0:0.0987:0.5673:0.334	12.879	0.57398	839	0.37672	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1254.83	33	chr4	56911023	.	G	A	1254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=269;ExcessHet=0;FS=5.495;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.021;SOR=0.307	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1265,0,1383	5	0	1	0
chr4	67754019	67754019	T	C	exonic	GNRHR	.	nonsynonymous SNV	GNRHR:NM_000406:exon1:c.A317G:p.Q106R,GNRHR:NM_001012763:exon1:c.A317G:p.Q106R	Hypogonadotropic hypogonadism 7 without anosmia, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	31062	Isolated_congenital_hypogonadotropic_hypogonadism|Hypogonadotropic_hypogonadism|not_provided|Inborn_genetic_diseases|GNRHR-related_disorder|Infertility_disorder|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|Gonadotropin_deficiency	MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666|Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.606	0.0502223929218	0.0025	0.00119808	0.0025	0.0005	0.0009	0	0.0018	0.0040	0.0022	0.0007	0.0028137	435	154602	rs104893836	0.0037	0.0037	0.0037	0.0036	0.0054	0.0036	0.0035	0.0041	0.0041	0.0006	0.0025	0.0060	5.038e-05	0.0019	0.0054	0.0042	0.0029	0.0008	0.0023	0.0023	0.0025	0.0022	0.0035	0.0021	0.0021	0.0032	0.0030	0.0005	0	0.0029	0.0078	0	0.0012	0.0034	0.0035	0.0019	0.0008	0.001	0.78490	D	0.059	0.61642	T	0.997	0.70673	D	0.992	0.80445	D	0.000008	0.62929	D	0.000000	0.999894	0.50595	A	1.28	0.32218	L	-0.54	0.70950	T	-3.66	0.72120	D	0.871	0.86833	-0.3199	0.74424	T	0.323	0.69160	T	9	0.02444002	0.00672	T	0.050222	0.64151	D	0.606	0.84506	.	.	0.865565913474	0.86426	0.6508790891331032	0.65023	0.349769851821	0.36824	0.576106905937	0.49537	T	0.712316	0.91804	D	0.00964354	0.52975	T	0.246203	0.85441	D	0.0515199182516294	0.05765	T	0.772023	0.50934	T	0.78127015	0.82732	0.73259306	0.84197	0.75044835	0.80896	0.7223215	0.83603	-11.423	0.84384	D	0.2930875649712104	0.38984	0.359	0.57129	A	.;.	.;.	4.030639	0.59597	24.1	0.99576257528734025	0.72742	0.97816	0.77344	D	AEFGI	0.923474	0.90001	D	0.453357316500366	0.64394	4.692888	0.423272155502814	0.63018	4.527529	0.999999996378592	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.946000	0.87231	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	14.774	0.69335	930	0.16408	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.002717	0.000000	0.000000	0.000000	0.012195	0.007576	0.08333	1804.83	35	chr4	67754019	.	T	C	1804.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.038;DP=336;ExcessHet=0;FS=2.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.76;SOR=0.99	GT:AD:DP:GQ:PL	0/1:79,70:149:99:1815,0,2171	5	0	1	0
chr4	67838318	67838318	C	T	exonic	TMPRSS11D	.	nonsynonymous SNV	TMPRSS11D:NM_004262:exon5:c.G329A:p.S110N	.	.	.	.	.	.	.	.	.	.	.	2220262	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00433602589435	0.0002	.	0.0004	0.0003	0.0002	0	0	0.0006	0	6.959e-05	0.0003881	60	154602	rs150193405	0.0005	0.0005	0.0006	0.0005	0.0011	0.0005	0.0005	0.0008	0.0007	0.0001	0.0011	0.0015	0	0	0.0005	0.0006	0.0007	0.0001	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0004	0.0014	0.0012	0.0001	0	0.0019	0.0020	0	0	0.0034	0.0006	0.0005	0	0.54	0.06802	T	0.942	0.02677	T	0.002	0.09854	B	0.002	0.06944	B	0.484081	0.04998	N	1.285860	1	0.18198	N	0.01	0.07948	N	1.13	0.38556	T	0.54	0.02764	N	0.099	0.08088	-1.0037	0.28844	T	0.046	0.19839	T	10	0.0114963055	0.00251	T	0.004336	0.10529	T	0.070	0.20419	.	.	0.209622950755	0.20551	0.11829633960670972	0.11756	0.0823727007547	0.09290	0.296529889107	0.09885	T	0.137345	0.47023	T	-0.685049	0.00045	T	-0.807243	0.01728	T	0.00245692180095249	0.00025	T	0.451355	0.12777	T	0.0352107	0.04101	0.070360705	0.14939	0.0352107	0.04101	0.070360705	0.14939	-2.963	0.09788	T	.	.	0.066	0.02145	B	.	.	-1.575525	0.00253	0.004	0.78193376023072347	0.12195	0.00285	0.01534	N	AEFDI	0.043363	0.06847	N	-1.49377509572114	0.01893	0.08308839	-1.53987485771567	0.02046	0.09355061	0.00120775713896647	0.08334	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.16	-6.25	0.01863	-4.027000	0.00351	-5.670000	0.01636	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.289000	0.24236	0.0:0.2448:0.1034:0.6519	10.580	0.44438	867	0.32089	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1053.83	35	chr4	67838318	.	C	T	1053.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.526;DP=245;ExcessHet=0;FS=1.052;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.95;SOR=0.495	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1064,0,889	5	0	1	0
chr4	67914591	67914591	G	T	exonic	TMPRSS11A	.	stopgain	TMPRSS11A:NM_001114387:exon9:c.C1092A:p.C364X,TMPRSS11A:NM_182606:exon9:c.C1101A:p.C367X	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323869758	1.506e-05	1.573e-05	9.534e-06	2.064e-05	0.0003	9.86e-06	8.42e-06	6.096e-05	2.522e-05	2.99e-05	0	0	0	0	0.0003	1.439e-05	4.97e-05	0	1.315e-05	1.314e-05	0	2.693e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000007	0.62929	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.302	0.34120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584296	0.97078	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	8.985910	0.98301	39	0.99148012839156097	0.53737	0.96159	0.67803	D	AEFDI	0.332079	0.43160	N	0.616179262987259	0.74198	6.092008	0.477757652272265	0.66520	4.962609	0.00224476959564251	0.09262	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.93	4.21	0.48984	1.339000	0.33489	4.533000	0.43733	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.2345:0.0:0.7655:0.0	8.699	0.33476	897	0.25382	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	981.83	34	chr4	67914591	.	G	T	981.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.119;DP=258;ExcessHet=0;FS=4.638;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.515;SOR=0.342	GT:AD:DP:GQ:PL	0/1:37,40:77:99:992,0,1057	5	0	1	0
chr4	76367551	76367551	G	-	exonic	CCDC158	.	frameshift deletion	CCDC158:NM_001042784:exon11:c.1573delC:p.R525Gfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3860.03	33	chr4	76367550	.	CG	C	3860.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.296;DP=355;ExcessHet=0.4139;FS=0.514;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=0.368;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,44:98:99:0|1:76367550_CG_C:1664,0,2133:76367550	4	0	2	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	788.6	22	chr4	87615398	.	T	*	788.6	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.195;DP=179;ExcessHet=0.2119;FS=10.399;MLEAC=2;MLEAF=0.2;MQ=59.14;MQRankSum=0.793;QD=7.89;ReadPosRankSum=1.07;SOR=0.616	GT:AD:DP:GQ:PL	1/0:0,21:42:99:1351,533,783	3	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	775.23	20	chr4	87615730	.	ATAG	*	775.23	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-0.524;DP=195;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.92;MQRankSum=1.78;QD=5.46;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,31:31:94:.:.:1329,94,0:.	1	3	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	828.83	20	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	828.83	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.04;DP=204;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.76;MQRankSum=1.78;QD=5.84;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,31:31:94:.:.:1329,94,0:.	1	3	2	0
chr4	88057981	88057981	A	C	splicing	PKD2	NM_000297:exon9:c.1899-2A>C	.	.	Polycystic kidney disease 2	.	.	.	.	.	.	.	1.0000	0.928	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.393299	0.90346	31	0.99545809839149846	0.70836	0.99814	0.99640	D	AEFBI	.	.	.	1.16549228097182	0.99169	21.02314	1.02150946428102	0.99001	20.22455	0.999999999683971	0.74766	0.322412	0.05557	0	0.097471	0.02872	0	0.331037	0.05861	0	0.221052	0.04502	0	0.974593	0.77293	5.48	5.48	0.80675	9.116000	0.93665	11.107000	0.86243	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.567	0.76040	484	0.77165	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	182.74	45	chr4	88057981	.	A	C	182.74	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.609;DP=225;ExcessHet=0;FS=44.913;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.21;ReadPosRankSum=3.28;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,15:57:99:0|1:88057973_A_C:192,0,1347:88057973	4	0	1	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	34.31	78	chr4	99347057	.	C	G	34.31	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.26;DP=490;ExcessHet=0.4139;FS=372.026;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=-0.689;SOR=8.581	GT:AD:DP:GQ:PL	0/1:64,22:86:16:16,0,1255	1	0	2	3
chr4	102600993	102600993	G	A	exonic	NFKB1	.	nonsynonymous SNV	NFKB1:NM_001382628:exon15:c.G1694A:p.R565K,NFKB1:NM_001165412:exon16:c.G1733A:p.R578K,NFKB1:NM_001319226:exon16:c.G1733A:p.R578K,NFKB1:NM_003998:exon16:c.G1736A:p.R579K,NFKB1:NM_001382625:exon17:c.G1736A:p.R579K,NFKB1:NM_001382626:exon17:c.G1736A:p.R579K,NFKB1:NM_001382627:exon17:c.G1733A:p.R578K	Immunodeficiency, common variable, 12, Autosomal dominant	422	1091	7	2	0	11	0.00501596	.	.	.	1544483	Immunodeficiency,_common_variable,_12|not_provided	MONDO:MONDO:0014697,MedGen:C4225277,OMIM:616576,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.212	0.0232617146504	0.0003	0.00159744	0.0018	0	0.0025	0	0	0.0004	0.0011	0.0099	0.0014942	231	154602	rs4648086	0.0008	0.0008	0.0005	0.0010	0.0091	0.0007	0.0007	0.0086	0.0084	6.056e-05	0.0015	0.0007	0	0	0.0068	0.0002	0.0009	0.0091	0.0004	0.0004	0.0003	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	0	0	0.0002	0.0012	0	0	0.0238	0.0002	0.0009	0.0060	0.369	0.11586	T	0.507	0.12562	T	0.998	0.73220	D	0.911	0.74104	D	0.000050	0.53742	D	0.124030	0.999311	0.46639	D	1.89	0.50145	L	0.01	0.62459	T	-0.23	0.10656	N	0.308	0.34767	-0.4946	0.68843	T	0.378	0.73513	T	10	0.010088831	0.00226	T	0.023262	0.46211	T	0.212	0.50341	.	.	0.743427360143	0.74112	0.6969776683121308	0.69638	0.494346930209	0.47999	0.793027758598	0.80903	T	0.139131	0.47300	T	-0.241557	0.15152	T	-0.112933	0.62377	T	0.0567992431287323	0.06656	T	0.851115	0.55677	D	0.14450043	0.33165	0.12107569	0.29214	0.13558398	0.31461	0.11874198	0.28661	-6.935	0.54136	T	0.3170823565101529	0.41514	0.191	0.48230	B	.;.;.;.	.;.;.;.	4.240630	0.64293	24.7	0.99428378965834774	0.64130	0.97586	0.75724	D	AEFDBI	0.782508	0.71377	D	0.563411331976355	0.70902	5.570317	0.560726592355535	0.72148	5.764166	0.999999999999311	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	6.304000	0.72770	9.882000	0.82206	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.416	0.90513	958	0.09170	.;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	1	0	0	0	0	0	0	0.008056	0.005051	0.005435	0.020468	0.000000	0.017241	0.003049	0.007576	0.08333	1537.83	34	chr4	102600993	.	G	A	1537.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.386;DP=321;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.555;SOR=0.597	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1548,0,1786	5	0	1	0
chr4	108079592	108079592	C	T	exonic	LEF1	.	nonsynonymous SNV	LEF1:NM_001130713:exon6:c.G661A:p.G221S,LEF1:NM_001130714:exon6:c.G661A:p.G221S,LEF1:NM_001166119:exon6:c.G457A:p.G153S,LEF1:NM_016269:exon7:c.G745A:p.G249S	Sebaceous tumors, somatic (3)	421	1099	2	0	0	2	0.000909091	.	.	.	2211604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.578	0.182070761353	7.7e-05	.	3.296e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs146861754	2.258e-05	2.257e-05	1.225e-05	3.3e-05	0.0007	1.61e-05	1.416e-05	0.0002	0.0001	0	4.473e-05	0	2.52e-05	1.872e-05	0.0007	5.396e-06	9.935e-05	0.0002	1.317e-05	1.314e-05	1.287e-05	1.348e-05	0.0004	2.19e-06	8.2e-07	7.355e-05	3.053e-05	0	0	0	0	0	0	0	0	0	0.0004	0.895	0.19293	T	0.675	0.10714	T	0.238	0.90584	B	0.079	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-5.38	0.99184	D	-0.9	0.24244	N	0.696	0.71942	0.780	0.94167	D	0.925	0.97534	D	10	0.59727633	0.66713	D	0.182071	0.85597	D	0.578	0.82968	.	.	0.861820941678	0.86048	0.42433645578686824	0.42350	0.618344074146	0.56229	0.834750890732	0.87291	D	0.390528	0.75068	T	0.158985	0.70107	D	0.264894	0.86323	D	0.395478039979935	0.28772	T	0.927007	0.87317	D	0.2153556	0.43966	0.2670326	0.52555	0.2153556	0.43966	0.2670326	0.52554	-4.839	0.48666	T	.	.	0.102	0.18164	B	.;.;.;.	.;.;.;.	4.037111	0.59739	24.1	0.99715320527982343	0.81633	0.98623	0.84820	D	AEFDBI	0.847743	0.76458	D	0.203272514179013	0.51356	3.31764	0.356098131911315	0.58875	4.061011	0.999999999999946	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.85	5.85	0.93663	4.894000	0.62897	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.173	0.98166	943	0.12886	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4368.06	45	chr4	108079592	.	C	T	4368.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.11;DP=516;ExcessHet=0.4139;FS=4.053;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.08;SOR=0.9	GT:AD:DP:GQ:PL	0/1:88,95:183:99:2459,0,2006	4	0	2	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	.	.	.	.	.	.	.	.	0.5	934.55	65	chr4	140563137	.	C	G	934.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.76;DP=431;ExcessHet=11.5949;FS=323.709;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=-0.33;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,18:78:64:0|1:140563137_C_G:64,0,1825:140563137	0	0	6	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	969.55	63	chr4	140563138	.	C	G	969.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.563;DP=431;ExcessHet=11.5949;FS=374.425;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.184;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,18:78:64:0|1:140563137_C_G:64,0,1825:140563137	0	0	6	0
chr4	153397308	153397308	T	G	exonic	MND1	.	nonsynonymous SNV	MND1:NM_032117:exon6:c.T441G:p.C147W	.	435	1073	12	2	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	.	0.0004	0.00219649	0.0019	0	0.0002	0	0	0.0004	0.0026	0.0125	0.0014553	225	154602	rs34155513	0.0009	0.0009	0.0005	0.0013	0.0120	0.0009	0.0009	0.0114	0.0112	5.979e-05	0.0002	0	0	0	0.0050	0.0002	0.0011	0.0120	0.0006	0.0006	0.0003	0.0010	0.0124	0.0005	0.0005	0.0099	0.0090	2.405e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0124	0.098	0.40573	T	0.18	0.29442	T	0.987	0.61912	D	0.865	0.61524	P	0.000000	0.84330	D	0.041461	1	0.81001	D	3.37	0.91327	M	.	.	.	-6.4	0.96218	D	0.748	0.74735	-0.5454	0.66960	T	0.324	0.69255	T	9	0.012475997	0.00268	T	.	.	.	0.720	0.90101	.	.	0.361758802978	0.35793	0.6569080204790706	0.65627	0.511586276825	0.49235	0.618680477142	0.55543	T	0.26077	0.63218	T	-0.109848	0.34792	T	0.078829	0.75499	D	0.159456358214955	0.17831	T	0.911709	0.72366	D	0.54064786	0.69433	0.54937625	0.73947	0.54064786	0.69434	0.54937625	0.73947	-11.202	0.80754	D	.	.	0.452	0.65185	A	.;.	.;.	4.259806	0.64723	24.7	0.99216729701269402	0.55777	0.92021	0.54770	D	AEFGBI	0.652997	0.62619	D	0.341669177866107	0.58299	4.001551	0.244616661895043	0.52343	3.409832	0.0457380989113274	0.14663	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.44	2.94	0.33188	2.929000	0.48610	4.131000	0.42030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1629:0.0:0.8371	8.238	0.30798	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.000000	0.000000	0.000000	0.009202	0.011364	0.1667	1479.06	33	chr4	153397308	.	T	G	1479.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=274;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.442;SOR=0.725	GT:AD:DP:GQ:PL	0/1:31,35:66:99:851,0,804	4	0	2	0
chr4	176160948	176160948	C	T	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon19:c.C2531T:p.S844F,WDR17:NM_001378106:exon19:c.C2531T:p.S844F,WDR17:NM_001378104:exon20:c.C2696T:p.S899F,WDR17:NM_181265:exon20:c.C2696T:p.S899F,WDR17:NM_001350727:exon21:c.C2768T:p.S923F,WDR17:NM_001378103:exon21:c.C2768T:p.S923F,WDR17:NM_170710:exon21:c.C2768T:p.S923F	.	442	1077	3	0	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0151065851596	0.0037	0.000798722	0.0027	0.0008	0.0007	0	0.0045	0.0041	0	0.0004	0.0029236	452	154602	rs147272076	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0055	0.0055	0.0006	0.0010	0.0002	2.527e-05	0.0042	0.0016	0.0056	0.0042	0.0004	0.0033	0.0033	0.0035	0.0032	0.0056	0.0031	0.0030	0.0051	0.0050	0.0010	0.0011	0.0015	0	0	0.0058	0.0034	0.0056	0.0009	0	0.097	0.32141	T	0.171	0.30436	T	0.005	0.12996	B	0.007	0.12992	B	0.016386	0.27990	N	0.373166	0.968317	0.25807	N	1.745	0.45235	L	0.16	0.60854	T	-2.48	0.54059	N	0.271	0.33687	-0.9592	0.39330	T	0.103	0.37994	T	10	0.005960971	0.00134	T	0.015107	0.35650	T	0.076	0.22200	.	.	0.891060594775	0.88998	0.37475044475621455	0.37389	0.114889616539	0.12965	0.376848697662	0.21809	T	0.021153	0.16521	T	-0.379643	0.03132	T	-0.315078	0.43111	T	0.0120658571521454	0.00191	T	0.807619	0.45757	T	0.12978336	0.30302	0.14031762	0.33451	0.12978336	0.30302	0.14031762	0.33450	-7.584	0.59022	D	.	.	0.107	0.20196	B	.;.;.	.;.;.	2.779414	0.36502	20.3	0.89495736102731338	0.18846	0.83866	0.42959	D	AEFI	0.241124	0.36279	N	-0.371410943146938	0.26492	1.446293	-0.312986849446991	0.27679	1.537601	0.992070369991738	0.32709	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.73	3.88	0.43959	4.187000	0.58142	3.980000	0.40897	0.599000	0.40250	0.802000	0.29747	0.281000	0.24108	0.228000	0.22680	0.0:0.9213:0.0:0.0787	13.792	0.62637	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	696.83	33	chr4	176160948	.	C	T	696.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.12;DP=231;ExcessHet=0;FS=1.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-1.314;SOR=0.997	GT:AD:DP:GQ:PL	0/1:23,27:50:99:707,0,569	5	0	1	0
chr4	186706855	186706855	A	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.T2973G:p.F991L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0178141944692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.011	0.64786	D	0.282	0.32132	B	0.345	0.42592	B	0.000032	0.55875	D	0.125147	0.998859	0.45564	D	2	0.54354	M	0.71	0.51228	T	-4.6	0.78976	D	0.352	0.46928	-0.8993	0.48064	T	0.174	0.51753	T	10	0.49383608	0.61149	T	0.017814	0.39652	T	0.144	0.38394	0.547	0.66156	0.602534368506	0.59935	0.3504403825339987	0.34958	0.251250507196	0.27702	0.689790487289	0.65676	T	0.341208	0.71013	T	-0.140875	0.29750	T	-0.440133	0.28794	T	0.975719273090363	0.71056	D	0.950105	0.80888	D	0.41950747	0.62059	0.3225475	0.58193	0.41950747	0.62059	0.3225475	0.58192	-11.162	0.80539	D	.	.	0.955	0.87439	P	.;.	.;.	2.646175	0.34442	19.63	0.99827960287315087	0.91026	0.89328	0.49726	D	AEFBCI	0.562960	0.57034	D	-0.0483082183801902	0.39678	2.343774	-0.0378005800845535	0.38022	2.234294	0.999900546802182	0.45458	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.615788	0.45269	1	.	.	4.67	2.2	0.26966	2.884000	0.48261	0.021000	0.13590	-0.053000	0.16966	1.000000	0.71638	0.023000	0.20922	0.948000	0.49324	0.8481:0.0:0.1519:0.0	9.073	0.35667	949	0.11373	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3260.83	146	chr4	186706855	.	A	C	3260.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=756;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.241;SOR=0.711	GT:AD:DP:GQ:PL	0/1:92,113:205:99:3271,0,2565	5	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	306.08	90	chr4	189957425	.	A	G	306.08	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.484;DP=465;ExcessHet=1.383;FS=2.032;MLEAC=3;MLEAF=0.25;MQ=47.23;MQRankSum=-0.269;QD=1.24;ReadPosRankSum=-0.094;SOR=0.908	GT:AD:DP:GQ:PL	0/1:53,10:63:99:107,0,1513	3	0	3	0
chr5	484656	484656	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G796A:p.V266M,SLC9A3:NM_004174:exon5:c.G796A:p.V266M	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	421	1078	21	2	0	25	0.0114626	.	.	YES	1072823	not_provided|SLC9A3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0213898244609	0.0006	0.000399361	0.0012	0.0002	0.0011	0	0	0.0014	0.0034	0.0019	0.0010155	157	154602	rs140474355	0.0009	0.0009	0.0008	0.0009	0.0085	0.0008	0.0008	0.0066	0.0059	5.974e-05	0.0011	0.0055	2.519e-05	3.817e-05	0.0085	0.0007	0.0015	0.0019	0.0008	0.0008	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0009	4.809e-05	0	0.0016	0.0063	0	0	0.0068	0.0009	0	0.0012	0.002	0.72154	D	0.008	0.67890	D	0.942	0.52977	P	0.826	0.59373	P	0.216980	0.16229	N	0.617305	1	0.08975	N	2.085	0.57729	M	2.22	0.18248	T	-1.53	0.37759	N	0.328	0.37301	-1.0776	0.07821	T	0.071	0.29066	T	10	0.01545018	0.00324	T	0.02139	0.44151	T	0.053	0.14996	.	.	0.292942362817	0.28906	0.4457684819745284	0.44494	1.85953752139	0.92388	0.435315996408	0.29936	T	0.135649	0.46757	T	-0.553641	0.00277	T	-0.574828	0.15009	T	0.0364475923392912	0.03058	T	0.865513	0.57764	D	0.15742323	0.35472	0.1525973	0.35895	0.15742323	0.35471	0.1525973	0.35894	-7.097	0.55445	T	.	.	0.121	0.25166	B	.;.;.	.;.;.	1.897887	0.24102	16.27	0.99775695929055008	0.86346	0.02601	0.07169	N	AEFDGBI	0.098318	0.19814	N	-0.162198626822734	0.34716	1.985005	-0.314998690435138	0.27615	1.533542	0.108151430030521	0.16575	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.45	2.31	0.27816	-0.588000	0.05867	-0.950000	0.06817	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.725000	0.34934	0.0:0.5039:0.1909:0.3051	4.255	0.10164	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Likely benign	0	0	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	0.005061	0.000000	0.002732	0.000000	0.000000	0.025862	0.003106	0.007634	0.08333	1161.83	37	chr5	484656	.	C	T	1161.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.636;DP=269;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.594;SOR=0.446	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1172,0,1264	5	0	1	0
chr5	886135	886135	G	A	exonic	BRD9	.	nonsynonymous SNV	BRD9:NM_001375862:exon8:c.C895T:p.R299C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1035677256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	0.0002	6.722e-05	0.0010	7.58e-05	6.285e-05	0.0004	0.0003	0.0001	0	0	0	0.0004	9.423e-05	0	7.357e-05	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	.	.	.	.	.	.	.	.	0.2	75.61	1	chr5	886135	.	G	A	75.61	.	AC=2;AF=0.2;AN=10;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=25.2;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	4	1	0	1
chr5	2749409	2749409	C	T	exonic	IRX2	.	nonsynonymous SNV	IRX2:NM_001134222:exon2:c.G628A:p.G210S,IRX2:NM_033267:exon2:c.G628A:p.G210S	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.020724752183	.	.	1.675e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765950888	1.027e-05	1.026e-05	8.174e-06	1.238e-05	0.0002	6.17e-06	4.89e-06	9.794e-05	7.84e-05	0	0	0	0	0	0	8.996e-07	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.06957	T	0.523	0.10354	T	0.001	0.07471	B	0.002	0.06944	B	0.009903	0.30147	N	0.363507	0.915761	0.36534	D	0.03	0.08032	N	-0.12	0.64630	T	-0.26	0.11185	N	0.152	0.15609	-0.9787	0.35299	T	0.068	0.27811	T	10	0.056141526	0.06246	T	0.020725	0.43381	T	0.094	0.27141	0.285	0.24280	0.309278343525	0.30543	0.049438261601896856	0.04886	0.424734613468	0.42894	0.540158033371	0.44467	T	0.045978	0.27287	T	-0.384338	0.02924	T	-0.553183	0.17021	T	0.0460137450161659	0.04786	T	0.749125	0.37025	T	0.06849804	0.14928	0.042017326	0.04908	0.06849804	0.14928	0.042017326	0.04907	-3.879	0.21988	T	.	.	0.072	0.05060	B	.;.	.;.	2.063882	0.26247	17.05	0.90072956363874679	0.19357	0.46357	0.27742	N	AEFDBCI	0.231088	0.35437	N	-0.547837743421128	0.20551	1.084228	-0.346008515790949	0.26633	1.472343	0.99999999665867	0.74766	0.72623	0.87236	0	0.573888	0.26702	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.85	3.84	0.43422	2.471000	0.44786	4.730000	0.44549	-0.194000	0.09177	0.992000	0.37556	1.000000	0.68203	0.112000	0.18829	0.3326:0.4402:0.0:0.2271	1.918	0.03102	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1556.83	35	chr5	2749409	.	C	T	1556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.27;DP=264;ExcessHet=0;FS=0.986;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=-1.104;SOR=0.941	GT:AD:DP:GQ:PL	0/1:36,52:88:99:1567,0,978	5	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G,SPEF2:NM_144722:exon5:c.A601G:p.R201G	.	436	1032	52	2	0	56	0.0264151	.	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	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	0.024673	0.010101	0.025815	0.017544	0.000000	0.051724	0.012195	0.060606	0.08333	927.83	36	chr5	35646682	.	A	G	927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.586;DP=237;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.932;SOR=0.84	GT:AD:DP:GQ:PL	0/1:25,36:61:99:938,0,669	5	0	1	0
chr5	35876347	35876347	C	T	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1241T:p.T414M	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	0	1425	89	8	0	105	0.035533	.	.	.	138275	not_specified|Immunodeficiency_104|not_provided	MedGen:CN169374|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0039	0.013778	0.0107	0.0012	0.0020	0.0271	0.0086	0.0056	0.0155	0.0359	0.0098252	1519	154602	rs2229232	0.0071	0.0071	0.0061	0.0082	0.0372	0.0070	0.0069	0.0362	0.0357	0.0017	0.0023	0.0135	0.0358	0.0085	0.0239	0.0037	0.0088	0.0372	0.0059	0.0059	0.0052	0.0066	0.0326	0.0055	0.0054	0.0284	0.0268	0.0010	0.0011	0.0043	0.0147	0.0301	0.0068	0.0102	0.0047	0.0100	0.0326	0.015	0.52492	D	0.031	0.53788	D	0.987	0.61912	D	0.548	0.49136	P	0.217605	0.03431	N	1.447760	1	0.08975	N	1.83	0.48079	L	1.78	0.25678	T	-1.11	0.28703	N	0.047	0.01911	-1.0472	0.15188	T	0.027	0.11663	T	10	0.0026548505	0.00041	T	.	.	.	0.111	0.31313	.	.	.	.	0.4007483538174258	0.39989	0.0171820885831	0.01662	0.229907736182	0.01961	T	0.363134	0.72893	T	-0.511019	0.00495	T	-0.481058	0.24334	T	0.0202699972013287	0.00727	T	0.692831	0.30243	T	0.020204129	0.00571	0.035991907	0.02956	0.024279028	0.01243	0.034701396	0.02585	-5.001	0.36851	T	0.3171601064527724	0.41522	0.087	0.10979	B	.	.	0.676186	0.10444	7.166	0.99348098151366837	0.60452	0.04635	0.10302	N	AEFGBCI	0.066404	0.13002	N	-0.644685924130409	0.17615	0.9079335	-0.840010357948379	0.13527	0.7022545	0.999916113977116	0.45857	0.653281	0.48532	0	0.681609	0.65952	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.6	-1.06	0.09491	-0.111000	0.10778	-1.445000	0.05423	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2999:0.3346:0.0:0.3655	3.165	0.06143	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	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	0.026183	0.015152	0.021739	0.029240	0.000000	0.025862	0.021341	0.060606	0.08333	1172.83	36	chr5	35876347	.	C	T	1172.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.23;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.624;SOR=0.668	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1183,0,1513	5	0	1	0
chr5	37291973	37291973	C	A	exonic	NUP155	.	nonsynonymous SNV	NUP155:NM_001278312:exon34:c.G3911T:p.S1304I,NUP155:NM_004298:exon35:c.G3926T:p.S1309I,NUP155:NM_153485:exon35:c.G4103T:p.S1368I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.430	0.0280342656574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.055	0.46862	T	0.695	0.46346	P	0.11	0.38432	B	0.000001	0.62929	D	0.128731	0.99966	0.48141	D	1.78	0.46185	L	-1.14	0.77843	T	-2.23	0.56466	N	0.391	0.60918	-0.5417	0.67099	T	0.281	0.65239	T	10	0.29541677	0.47110	T	0.028034	0.50772	D	0.430	0.73662	0.597	0.72739	0.460629033866	0.45690	0.45845532289454033	0.45763	0.277069587991	0.30180	0.629613518715	0.57091	T	0.261188	0.63265	T	0.0483667	0.58132	T	-0.168301	0.57599	T	0.880813777446747	0.53085	D	0.891911	0.62748	D	0.20924553	0.43186	0.13843252	0.33060	0.20924553	0.43186	0.13843252	0.33059	-5.925	0.45647	T	.	.	0.294	0.52881	B	.;.;.	.;.;.	4.060015	0.60248	24.2	0.98564908621494551	0.43025	0.96233	0.68148	D	AEFGBI	0.672605	0.63895	D	0.251542859743216	0.53715	3.539227	0.343880334637421	0.58141	3.982876	0.999993929661586	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.232000	0.58445	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9212:0.0:0.0788	11.998	0.52508	181	0.92953	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2151.06	34	chr5	37291973	.	C	A	2151.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.147;DP=262;ExcessHet=0.4139;FS=4.532;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=2.33;SOR=0.649	GT:AD:DP:GQ:PL	0/1:22,52:74:99:1350,0,542	4	0	2	0
chr5	40949964	40949964	T	A	exonic	C7	.	nonsynonymous SNV	C7:NM_000587:exon9:c.T1043A:p.F348Y	C7 deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0109786209217	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282769787	4.14e-06	4.104e-06	1.37e-06	6.951e-06	0.0005	1.49e-06	9.8e-07	0.0001	7.573e-05	0	0	0	0	0	0.0005	9.046e-07	3.334e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.973769	0.08141	N	0.985432	1	0.08975	N	-0.55	0.02420	N	-1.95	0.85003	D	0.1	0.05810	N	0.138	0.13626	-0.8516	0.51857	T	0.195	0.54942	T	10	0.05370596	0.05604	T	0.010979	0.28125	T	0.187	0.46274	0.529	0.63560	0.220303561663	0.21668	0.6239907862965979	0.62332	0.0174654816971	0.01699	0.343167871237	0.16911	T	0.019309	0.15408	T	-0.191698	0.22010	T	-0.513137	0.20993	T	0.0675378803256668	0.08302	T	0.176682	0.01716	T	0.1939793	0.41130	0.09135909	0.21476	0.1939793	0.41130	0.09135909	0.21475	-3.629	0.18277	T	0.04502353612045519	0.00561	0.080	0.07650	B	.	.	0.023305	0.04446	1.171	0.27772221536379987	0.01395	0.01253	0.04406	N	AEFGBI	0.167017	0.29365	N	-1.48412245668462	0.01962	0.08614254	-1.43568506072222	0.02902	0.1343801	0.00153982804665569	0.08622	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.88	-0.297	0.12185	-0.368000	0.07597	-4.554000	0.02098	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1633:0.4034:0.1588:0.2746	0.924	0.01238	514	0.74853	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) 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	.	.	.	.	.	.	.	.	0.08333	961.83	47	chr5	40949964	.	T	A	961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.884;DP=345;ExcessHet=0;FS=1.466;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.8;SOR=0.849	GT:AD:DP:GQ:PL	0/1:82,46:128:99:972,0,2082	5	0	1	0
chr5	41054790	41054790	C	T	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon11:c.G1084A:p.V362I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00977437691932	.	0.000399361	0.0003	0	0	0.0013	0	1.5e-05	0	0.0015	0.0002652	41	154602	rs184226751	0.0001	0.0001	6.136e-05	0.0002	0.0014	9.891e-05	9.299e-05	0.0012	0.0011	2.996e-05	2.25e-05	0	0.0006	0	0	1.171e-05	0.0002	0.0014	7.882e-05	7.876e-05	6.427e-05	9.403e-05	0.0014	4.495e-05	3.511e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	0	0	0.0010	0.139	0.25768	T	0.306	0.19972	T	0.007	0.14184	B	0.004	0.10090	B	0.754656	0.09672	N	0.876356	1	0.08975	N	0.69	0.16971	N	-0.26	0.67187	T	-0.67	0.19297	N	0.058	0.02964	-0.9701	0.37179	T	0.184	0.53315	T	10	0.010486782	0.00233	T	0.009774	0.25495	T	0.030	0.07022	.	.	0.0138822411134	0.00435	0.047219059398134734	0.04664	0.0195201533521	0.01909	0.330864131451	0.15065	T	0.002759	0.02156	T	-0.55713	0.00264	T	-0.592069	0.13488	T	0.0038389496769982	0.00041	T	0.572043	0.20399	T	0.03226952	0.03221	0.03474267	0.02596	0.03226952	0.03221	0.03474267	0.02596	-5.074	0.37632	T	.	.	0.079	0.07224	B	.	.	-0.593939	0.01588	0.107	0.7072464905556598	0.09389	0.01144	0.04144	N	AEFI	0.026830	0.02083	N	-1.15655490672849	0.05673	0.2592245	-1.19286333493542	0.06029	0.2889545	3.98452781165754E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	-0.848	0.10184	-0.857000	0.04394	-3.424000	0.02797	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.3807:0.0:0.6193	9.251	0.36714	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	33	chr5	41054790	.	C	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.638;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.261;SOR=0.793	GT:AD:DP:GQ:PL	0/1:30,40:70:99:965,0,703	5	0	1	0
chr5	41195931	41195931	G	A	exonic	C6	.	nonsynonymous SNV	C6:NM_000065:exon5:c.C448T:p.R150C,C6:NM_001115131:exon5:c.C448T:p.R150C	C6 deficiency;Combined C6/C7 deficiency (3)	.	.	.	.	.	.	.	.	.	.	1942060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.926	0.0942881544234	.	.	8.257e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs751612775	2.19e-05	2.189e-05	2.179e-05	2.201e-05	8.963e-05	1.585e-05	1.356e-05	2.375e-05	1.258e-05	8.963e-05	4.475e-05	0	0	0	0	2.069e-05	3.312e-05	2.319e-05	1.973e-05	1.97e-05	0	4.04e-05	6.558e-05	5.25e-06	2.46e-06	.	.	2.416e-05	0	6.558e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.047737	1	0.81001	D	2.325	0.66631	M	-3.92	0.96078	D	-5.94	0.89093	D	0.861	0.85766	1.097	0.99542	D	0.955	0.98531	D	10	0.95445716	0.94799	D	0.094288	0.76225	D	0.926	0.98192	.	.	0.973791122316	0.97351	0.8277734939149792	0.82735	0.292977666792	0.31721	0.494802981615	0.38105	T	0.773646	0.93962	D	0.365842	0.87692	D	0.384584	0.91592	D	0.998411297798157	0.94084	D	0.971503	0.89686	D	0.7736549	0.82267	0.56748873	0.74962	0.7736549	0.82269	0.56748873	0.74963	-11.824	0.83983	D	.	.	0.509	0.65924	A	.;.	.;.	5.230833	0.87800	29.4	0.99942916824614514	0.99848	0.96142	0.67725	D	AEFI	0.957165	0.97618	D	1.00465671893171	0.95886	14.06861	0.920937720147574	0.96422	14.67737	0.999625671172311	0.41093	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	6.001000	0.70352	5.184000	0.47874	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.494	0.90806	480	0.77422	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2010.06	36	chr5	41195931	.	G	A	2010.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=287;ExcessHet=0.4139;FS=4.324;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.392;SOR=0.415	GT:AD:DP:GQ:PL	0/1:33,40:73:99:1098,0,959	4	0	2	0
chr5	41203221	41203221	G	A	exonic	C6	.	nonsynonymous SNV	C6:NM_000065:exon2:c.C10T:p.R4C,C6:NM_001115131:exon2:c.C10T:p.R4C	C6 deficiency;Combined C6/C7 deficiency (3)	1	1483	38	0	0	38	0.0126498	.	.	.	1155110	not_provided|C6-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.039	0.0195269370573	0.0007	0.00139776	0.0016	0.0016	0.0007	0	0	0.0010	0.0022	0.0059	0.0013842	214	154602	rs150931891	0.0009	0.0009	0.0007	0.0011	0.0073	0.0009	0.0009	0.0055	0.0049	0.0009	0.0006	0.0114	7.558e-05	0	0.0073	0.0003	0.0019	0.0053	0.0010	0.0010	0.0010	0.0010	0.0048	0.0009	0.0008	0.0033	0.0028	0.0011	0	0.0007	0.0107	0	0	0.0068	0.0004	0.0019	0.0048	0.141	0.25979	T	0.197	0.27855	T	0.008	0.14655	B	0.002	0.06944	B	0.773484	0.06611	N	1.101020	1	0.08975	N	0.345	0.11182	N	0.1	0.61326	T	-0.69	0.19720	N	0.058	0.03069	-0.9946	0.31405	T	0.107	0.38857	T	10	0.005827725	0.00130	T	0.019527	0.41916	T	0.039	0.10176	.	.	0.238096912614	0.23440	0.39305012521588506	0.39220	0.0422329491616	0.04548	0.214111804962	0.00998	T	0.044744	0.26909	T	-0.470742	0.00841	T	-0.447046	0.28023	T	0.00181561596595152	0.00018	T	0.526147	0.17328	T	0.053375762	0.10091	0.03114345	0.01664	0.05086976	0.09257	0.03748249	0.03410	-4.309	0.28302	T	.	.	0.114	0.42170	B	.;.;.;.	.;.;.;.	0.994673	0.13725	10.27	0.38455439153041832	0.02594	0.04399	0.09983	N	AEFGBI	0.264971	0.38220	N	-1.18465933949792	0.05232	0.2380134	-1.24350832981647	0.05228	0.2485955	0.0102753656043911	0.11997	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	-3.86	0.03951	0.473000	0.21843	0.821000	0.21853	-0.161000	0.11593	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.5153:0.1042:0.2219:0.1585	2.717	0.04869	486	0.77016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008056	0.005051	0.005435	0.017544	0.000000	0.008621	0.000000	0.011364	0.08333	1062.83	34	chr5	41203221	.	G	A	1062.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.018;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.863;SOR=0.717	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1073,0,1258	5	0	1	0
chr5	43700219	43700219	A	G	exonic	NNT	.	nonsynonymous SNV	NNT:NM_001331026:exon19:c.A2584G:p.I862V,NNT:NM_012343:exon20:c.A2977G:p.I993V,NNT:NM_182977:exon20:c.A2977G:p.I993V	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, Autosomal recessive	9	1462	50	1	0	52	0.0174731	.	.	.	691869	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.691	.	0.0043	0.0131789	0.0092	0.0031	0.0053	0.0246	0.0107	0.0064	0.0187	0.0176	0.0086998	1345	154602	rs78818665	0.0067	0.0067	0.0061	0.0072	0.0211	0.0065	0.0065	0.0199	0.0194	0.0034	0.0047	0.0193	0.0211	0.0113	0.0149	0.0046	0.0088	0.0201	0.0071	0.0071	0.0063	0.0079	0.0260	0.0068	0.0066	0.0225	0.0211	0.0031	0.0296	0.0062	0.0240	0.0260	0.0134	0.0102	0.0051	0.0099	0.0211	0.03	0.45393	D	0.05	0.49120	T	0.804	0.45171	P	0.688	0.53700	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.64	0.77224	M	-3.03	0.92307	D	-0.93	0.25551	N	0.395	0.45047	0.465	0.90045	D	0.682	0.89011	D	10	0.0123851	0.00266	T	.	.	.	0.691	0.88773	.	.	0.792272893702	0.79034	0.6103406890579464	0.60966	0.826633399761	0.67434	0.774488687515	0.78097	T	0.560351	0.85272	D	-0.119967	0.33130	T	0.077211	0.75392	D	0.0275404039287166	0.01622	T	0.992176	0.97522	D	0.41718677	0.61904	0.34197587	0.59930	0.4848643	0.66195	0.34197587	0.59929	-8.935	0.67277	D	.	.	0.156	0.34602	B	.;.;.	.;.;.	3.783900	0.54419	23.5	0.99785942847366804	0.87219	0.98056	0.79226	D	AEFGBI	0.868294	0.78837	D	0.619765950109536	0.74426	6.130708	0.654996669094691	0.78981	6.987416	0.999999998687651	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.001000	0.76051	11.275000	0.91537	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.059	0.80632	334	0.86273	NADP transhydrogenase beta-like domain;NADP transhydrogenase beta-like domain;NADP transhydrogenase beta-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.015152	0.014946	0.008772	0.000000	0.000000	0.024390	0.022727	0.1667	1701.06	33	chr5	43700219	.	A	G	1701.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.519;DP=294;ExcessHet=0.4139;FS=0.612;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.132;SOR=0.609	GT:AD:DP:GQ:PL	0/1:38,25:63:99:575,0,924	4	0	2	0
chr5	64214494	64214494	C	T	exonic	RNF180	.	nonsynonymous SNV	RNF180:NM_001113561:exon4:c.C1168T:p.R390C,RNF180:NM_001323292:exon4:c.C1168T:p.R390C,RNF180:NM_178532:exon4:c.C1168T:p.R390C	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.01314911162	.	.	0.0004	0	0.0004	0.0006	0	7.553e-05	0.0045	0.0020	0.0003428	53	154602	rs568069088	0.0002	0.0002	9.399e-05	0.0003	0.0028	0.0002	0.0002	0.0018	0.0017	2.992e-05	2.241e-05	0	0.0001	0	0.0028	4.59e-05	0.0002	0.0020	5.921e-05	5.913e-05	1.286e-05	0.0001	0.0010	3.08e-05	2.212e-05	0.0004	0.0003	0	0	6.551e-05	0	0.0002	0	0	2.941e-05	0	0.0010	0.012	0.58626	D	0.012	0.64786	D	0.998	0.73220	D	0.629	0.51727	P	0.000835	0.41547	D	0.225320	0.999783	0.81001	D	1.355	0.33814	L	0.71	0.51228	T	-1.0	0.39503	N	0.481	0.51583	-0.8978	0.48214	T	0.146	0.47111	T	10	0.03185287	0.01326	T	0.013149	0.32325	T	0.084	0.24469	0.402	0.43245	0.761594230518	0.75942	0.25658790452035035	0.25572	0.0428740681211	0.04625	0.20430521667	0.00593	T	0.096033	0.39742	T	-0.427602	0.01533	T	-0.393473	0.34145	T	0.0551114317964011	0.06376	T	0.849515	0.76145	T	0.12529731	0.29375	0.09049029	0.21224	0.12529731	0.29375	0.09049029	0.21223	-8.915	0.75294	D	.	.	0.168	0.36966	B	.;.	.;.	4.567653	0.72040	25.8	0.99774698077080604	0.86260	0.85381	0.44508	D	AEFBI	0.466442	0.51409	N	0.447421806961676	0.64056	4.651891	0.511528461528111	0.68763	5.265399	0.889454966045164	0.25813	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.85	5.85	0.93663	1.476000	0.35028	7.723000	0.67399	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.984000	0.60418	0.265:0.735:0.0:0.0	13.483	0.60802	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	1589.83	43	chr5	64214494	.	C	T	1589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.04;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1;SOR=0.682	GT:AD:DP:GQ:PL	0/1:53,59:112:99:1600,0,1185	5	0	1	0
chr5	71502726	71502726	A	T	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon15:c.A2176T:p.I726L	.	9	1431	74	8	0	90	0.0304878	.	.	.	500910	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0048	0.00379393	0.0056	0.0011	0.0047	0.0001	0.0002	0.0076	0.0100	0.0059	0.0054462	842	154602	rs34588160	0.0050	0.0050	0.0048	0.0053	0.0520	0.0049	0.0049	0.0472	0.0453	0.0027	0.0068	0.0287	0.0001	0.0001	0.0520	0.0043	0.0085	0.0068	0.0047	0.0047	0.0047	0.0048	0.0094	0.0045	0.0043	0.0082	0.0077	0.0008	0	0.0094	0.0314	0	0	0.0646	0.0054	0.0090	0.0060	0.964	0.02079	T	0.446	0.13103	T	0.001	0.07471	B	0.001	0.04355	B	0.073714	0.02279	N	1.858550	1	0.08975	N	0.69	0.16971	N	2.77	0.11407	T	-0.21	0.10308	N	0.136	0.13484	-0.9768	0.35727	T	0.012	0.04510	T	10	0.0032429397	0.00055	T	.	.	.	0.024	0.04979	0.078	0.00601	0.0666544352282	0.05500	0.03314513103180605	0.03262	0.0372861232549	0.03950	0.247713685036	0.03531	T	0.005732	0.11224	T	-0.727399	0.00025	T	-0.81349	0.01588	T	0.00146636472080958	0.00015	T	0.616838	0.23625	T	0.023202907	0.01041	0.03177215	0.01813	0.024720207	0.01331	0.035487026	0.02809	-2.516	0.05891	T	.	.	0.094	0.14385	B	.;.	.;.	0.290408	0.06670	3.169	0.64207342975242188	0.07430	0.01812	0.05644	N	AEFBI	0.034522	0.04290	N	-1.79741032345659	0.00551	0.02374199	-1.90727798069213	0.00474	0.02097533	0.998651112745746	0.37392	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.7	-9.41	0.00518	-1.979000	0.01583	-0.794000	0.07402	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1906:0.1176:0.6918:0.0	13.604	0.61503	368	0.84463	.;.	.	.	.	.	.	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	0.048338	0.020202	0.069293	0.067251	0.000000	0.077586	0.021341	0.015152	0.08333	632.83	34	chr5	71502726	.	A	T	632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=228;ExcessHet=0;FS=2.239;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.71;SOR=1.022	GT:AD:DP:GQ:PL	0/1:28,26:54:99:643,0,660	5	0	1	0
chr5	81330515	81330515	C	G	exonic	ACOT12	.	nonsynonymous SNV	ACOT12:NM_130767:exon15:c.G1547C:p.S516T	.	428	1078	16	0	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0041	0.00379393	0.0022	0.0110	0.0018	0	0	0.0016	0.0044	0.0010	0.0020763	321	154602	rs148630854	0.0012	0.0012	0.0012	0.0012	0.0114	0.0012	0.0011	0.0104	0.0101	0.0114	0.0019	0.0145	0	1.872e-05	0.0080	0.0006	0.0030	0.0009	0.0043	0.0043	0.0044	0.0042	0.0113	0.0040	0.0039	0.0105	0.0101	0.0113	0	0.0039	0.0130	0	0	0	0.0008	0.0090	0.0021	0.024	0.47745	D	0.043	0.49942	D	0.136	0.27347	B	0.129	0.32841	B	0.000018	0.62929	D	0.148152	0.648529	0.32942	D	2.675	0.78361	M	2.48	0.14657	T	-1.31	0.32791	N	0.213	0.23758	-1.1433	0.01240	T	0.038	0.16419	T	10	0.00680092	0.00154	T	.	.	.	0.102	0.29158	.	.	0.33085137897	0.32697	0.43767070057906926	0.43684	0.247984735004	0.27358	0.432376146317	0.29534	T	0.085926	0.37610	T	-0.596935	0.00152	T	-0.619844	0.11197	T	0.0378172540737556	0.03299	T	0.552145	0.19060	T	0.08670919	0.20165	0.13169524	0.31617	0.08670919	0.20165	0.13169524	0.31616	-5.293	0.39874	T	.	.	0.097	0.15832	B	.	.	3.284550	0.45021	22.0	0.9780024171918299	0.36058	0.88285	0.48144	D	AEFI	0.710842	0.66447	D	0.144560799799679	0.48554	3.066328	0.253707566329056	0.52860	3.45814	0.996932734919856	0.35130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	2.651000	0.46338	4.029000	0.41321	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:1.0:0.0:0.0	15.434	0.74858	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.015152	0.016304	0.008772	0.050000	0.008621	0.003049	0.000000	0.08333	1024.83	33	chr5	81330515	.	C	G	1024.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.981;DP=252;ExcessHet=0;FS=0.907;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.03;SOR=0.859	GT:AD:DP:GQ:PL	0/1:43,38:81:99:1035,0,1154	5	0	1	0
chr5	88225822	88225822	T	C	exonic	TMEM161B	.	nonsynonymous SNV	TMEM161B:NM_001289007:exon4:c.A236G:p.K79R,TMEM161B:NM_001349407:exon4:c.A236G:p.K79R,TMEM161B:NM_153354:exon4:c.A236G:p.K79R,TMEM161B:NM_001289008:exon5:c.A203G:p.K68R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.00471701314098	.	.	8.249e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs199607857	6.167e-06	6.156e-06	1.091e-05	1.377e-06	8.102e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.102e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.03	0.20002	B	0.031	0.21939	B	0.000001	0.84330	D	0.087631	1	0.81001	D	0.75	0.19020	N	.	.	.	1.3	0.00948	N	0.469	0.52029	-1.0093	0.27136	T	0.091	0.34928	T	9	0.17639425	0.32621	T	0.004717	0.11753	T	0.250	0.55888	0.425	0.47021	0.0716867268079	0.06686	0.5041914484464938	0.50341	0.195176169388	0.21857	0.698019981384	0.66858	T	0.008625	0.08348	T	0.0432784	0.57474	T	-0.160124	0.58341	T	0.529876828193665	0.33730	D	0.916108	0.71716	D	0.117753886	0.27755	0.117760606	0.28427	0.117753886	0.27755	0.117760606	0.28427	-4.313	0.28358	T	.	.	0.089	0.14201	B	.;.;.	.;.;.	2.907332	0.38556	20.8	0.76960966547124376	0.11679	0.98907	0.88457	D	AEFBI	0.920434	0.89241	D	-0.290040370410524	0.29532	1.638533	-0.0467955071053449	0.37630	2.205832	0.99998892169972	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.91	4.91	0.63897	7.544000	0.81063	7.899000	0.73451	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.833	0.69795	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	859.83	34	chr5	88225822	.	T	C	859.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=259;ExcessHet=0;FS=1.796;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.957;SOR=0.835	GT:AD:DP:GQ:PL	0/1:47,35:82:99:870,0,1138	5	0	1	0
chr5	102270770	102270770	G	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656G:p.T219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0120097677659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	1.437e-05	0	1.381e-06	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	0.507	0.10930	T	0.003	0.11197	B	0.021	0.19346	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.955	0.23872	L	1.16	0.38073	T	-0.9	0.24244	N	0.205	0.22742	-1.0714	0.09108	T	0.057	0.24055	T	10	0.053885907	0.05650	T	0.01201	0.30193	T	0.052	0.14661	0.576	0.70087	0.0884992946249	0.08302	0.3046381697876559	0.30376	0.0509954482361	0.05609	0.284427404404	0.08118	T	0.010282	0.09295	T	-0.251295	0.13939	T	-0.598744	0.12917	T	0.048715602606535	0.05272	T	0.253875	0.03902	T	0.055680685	0.10854	0.04068339	0.04453	0.055680685	0.10853	0.04068339	0.04452	-4.03	0.24251	T	.	.	0.069	0.03162	B	.	.	0.072722	0.04809	1.415	0.38565595464401864	0.02609	0.07420	0.13439	N	AEFBI	0.125103	0.24146	N	-1.20074596281669	0.04990	0.2264474	-1.20614429823647	0.05810	0.2779155	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	252.91	14	chr5	102270770	.	G	C	252.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.108;DP=242;ExcessHet=0.4139;FS=50.558;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=1.63;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,8:49:99:0|1:102270769_T_C:100,0,1456:102270769	4	0	1	1
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	257.06	26	chr5	102270771	.	T	C	257.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.444;DP=252;ExcessHet=0.4139;FS=50.558;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.73;ReadPosRankSum=1.55;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,8:49:99:0|1:102270769_T_C:100,0,1456:102270769	4	0	2	0
chr5	110739163	110739163	G	A	exonic	SLC25A46	.	nonsynonymous SNV	SLC25A46:NM_001303249:exon1:c.G44A:p.R15Q,SLC25A46:NM_138773:exon1:c.G44A:p.R15Q	Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive	431	1088	3	0	0	3	0.00137678	.	.	YES	520552	Neuropathy,_hereditary_motor_and_sensory,_type_6B|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014671,MedGen:C4225302,OMIM:616505|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.512	0.669024271648	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs372382932	4.006e-05	3.899e-05	3.389e-05	4.641e-05	0.0002	3.164e-05	2.844e-05	3.445e-05	3.046e-05	0	0	0	0	0	0.0002	4.449e-05	1.726e-05	7.574e-05	3.941e-05	3.94e-05	5.137e-05	2.689e-05	0.0003	1.715e-05	1.129e-05	8.873e-05	5.283e-05	2.412e-05	0	0.0003	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.703	0.54270	P	0.000054	0.53742	D	0.121669	0.999375	0.81001	D	2.32	0.66415	M	-2.07	0.86722	D	-0.95	0.25332	N	0.544	0.57433	0.385	0.88875	D	0.655	0.88012	D	10	0.65353465	0.69741	D	0.669024	0.97235	D	0.512	0.79094	.	.	0.74894119478	0.74667	0.6153829533266867	0.61470	0.0759007958584	0.08520	0.865649163723	0.91941	D	0.020416	0.16081	T	0.0210351	0.54521	T	-0.0210237	0.68961	D	0.649829745292664	0.38455	D	0.871313	0.57716	D	0.53494847	0.69112	0.6057321	0.77080	0.53494847	0.69113	0.6057321	0.77081	-4.307	0.28274	T	.	.	0.432	0.61306	A	.;.	.;.	4.524098	0.70963	25.6	0.99885608978975193	0.96049	0.81999	0.41297	D	ALL	0.674978	0.64052	D	0.530777707798563	0.68919	5.28398	0.501537179087623	0.68096	5.172866	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.88	3.97	0.45241	6.260000	0.72463	7.115000	0.57578	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.8367:0.1633	12.95	0.57792	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	589.83	36	chr5	110739163	.	G	A	589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.47;DP=174;ExcessHet=0;FS=4.386;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.22;SOR=1.428	GT:AD:DP:GQ:PL	0/1:24,22:46:99:600,0,597	5	0	1	0
chr5	120686311	120686311	T	C	exonic	PRR16	.	nonsynonymous SNV	PRR16:NM_001300783:exon2:c.T517C:p.C173R,PRR16:NM_001308087:exon2:c.T307C:p.C103R,PRR16:NM_016644:exon3:c.T448C:p.C150R,PRR16:NM_001308088:exon4:c.T307C:p.C103R	.	427	1062	29	4	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00279553	0.0061	0.0012	0.0012	0	0.0033	0.0072	0.0044	0.0124	0.0061772	955	154602	rs140122947	0.0070	0.0070	0.0067	0.0073	0.0120	0.0069	0.0068	0.0114	0.0111	0.0012	0.0021	0.0005	0	0.0034	0.0085	0.0076	0.0058	0.0120	0.0046	0.0046	0.0045	0.0048	0.0143	0.0044	0.0042	0.0116	0.0106	0.0011	0.0121	0.0017	0	0	0.0033	0	0.0076	0.0019	0.0143	0.112	0.72154	T	0.1	0.62352	T	0.226	0.51395	B	0.176	0.46637	B	0.001764	0.38052	N	0.299816	0.999936	0.51612	D	.	.	.	1.0	0.41392	T	-1.92	0.98623	N	0.622	0.74462	-1.0460	0.15534	T	0.081	0.32031	T	9	0.0052689016	0.00115	T	.	.	.	0.128	0.35103	.	.	0.151262610727	0.14761	0.36927414502325967	0.36841	0.18308332438	0.20593	0.5204205513	0.41685	T	0.01708	0.13999	T	-0.393105	0.02568	T	-0.325768	0.41940	T	0.0148276194393841	0.00312	T	0.70113	0.32527	T	0.40580052	0.61133	0.38640827	0.63534	0.3717633	0.58715	0.38640827	0.63533	-2.095	0.03562	T	.	.	0.162	0.45954	B	.;.;.;.;.	.;.;.;.;.	3.443358	0.47909	22.5	0.98893923286780816	0.48055	0.98157	0.80093	D	AEFBI	0.779133	0.71143	D	0.214393683978546	0.51896	3.367477	0.30526535416505	0.55848	3.747679	0.999683871102299	0.41756	0.638212	0.43195	0	0.573888	0.26702	0	0.536957	0.11973	0	0.668105	0.65232	0	.	.	5.33	5.33	0.75683	3.413000	0.52440	1.197000	0.24809	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1627:0.8373	10.498	0.43978	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.002717	0.002924	0.000000	0.025862	0.009146	0.034091	0.08333	2287.83	37	chr5	120686311	.	T	C	2287.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.03;DP=389;ExcessHet=0;FS=9.531;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.337;SOR=0.569	GT:AD:DP:GQ:PL	0/1:98,94:192:99:2298,0,2835	5	0	1	0
chr5	132823884	132823884	C	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon4:c.G1777A:p.A593T,SHROOM1:NM_001172700:exon7:c.G1777A:p.A593T	.	421	1095	6	0	0	6	0.00273224	.	.	.	698775	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0101636520806	0.0051	0.00339457	0.0058	0.0013	0.0012	0	0.0098	0.0084	0.0039	0.0007	0.0052005	804	154602	rs144919403	0.0069	0.0068	0.0071	0.0068	0.0080	0.0068	0.0068	0.0078	0.0078	0.0011	0.0017	0.0011	0	0.0103	0.0004	0.0080	0.0058	0.0012	0.0049	0.0050	0.0051	0.0048	0.0079	0.0047	0.0045	0.0073	0.0071	0.0014	0.0022	0.0023	0.0006	0	0.0101	0	0.0079	0.0024	0.0025	0.28	0.15509	T	0.065	0.47097	T	0.229	0.30546	B	0.153	0.34292	B	0.832774	0.09093	N	0.912724	0.996853	0.22879	N	1.33	0.33268	L	1.49	0.31470	T	0.11	0.08495	N	0.125	0.19325	-0.9799	0.35025	T	0.046	0.19640	T	10	0.0046468377	0.00097	T	0.010164	0.26368	T	0.040	0.10527	.	.	0.328486982098	0.32448	0.20545923466704794	0.20462	0.0323555157115	0.03379	0.358799874783	0.19210	T	0.014986	0.12654	T	-0.614697	0.00119	T	-0.648355	0.09069	T	0.0120771322648374	0.00191	T	0.612239	0.23293	T	0.03552469	0.04196	0.04293744	0.05227	0.03552469	0.04196	0.04293744	0.05227	-4.957	0.36370	T	.	.	0.084	0.14979	B	.;.;.;.	.;.;.;.	1.343556	0.17504	13.20	0.99133206960837394	0.53329	0.21053	0.21264	N	AEFDBCI	0.097129	0.19596	N	-0.620076997169917	0.18342	0.951481	-0.612563704858537	0.19170	1.027357	0.999945822850924	0.47345	0.646311	0.45356	0	0.627178	0.54094	0	0.619478	0.44681	0	0.699875	0.68795	0	.	.	4.89	0.873	0.18254	0.175000	0.16577	-0.751000	0.07577	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.890000	0.42831	0.1587:0.5713:0.0:0.27	4.283	0.10288	908	0.22609	Apx/Shrm Domain 2|Apx/Shrm Domain 2;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	1	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1721.83	95	chr5	132823884	.	C	T	1721.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.266;DP=449;ExcessHet=0;FS=4.444;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.018;SOR=0.377	GT:AD:DP:GQ:PL	0/1:55,66:121:99:1732,0,1523	5	0	1	0
chr5	135008023	135008023	C	T	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon4:c.C559T:p.L187F	.	.	.	.	.	.	.	.	.	.	.	2286555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.0863270661375	.	.	2.473e-05	0	0	0	0	3.001e-05	0	6.056e-05	1.94e-05	3	154602	rs753293924	1.847e-05	1.847e-05	1.634e-05	2.063e-05	2.236e-05	1.265e-05	1.084e-05	1.175e-05	9.55e-06	0	2.236e-05	0	0	3.744e-05	0	1.799e-05	4.967e-05	1.159e-05	2.625e-05	2.624e-05	1.284e-05	4.027e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.11	0.29158	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000452	0.44317	D	0.000000	0.870148	0.35547	D	1.545	0.39105	L	-5.07	0.98648	D	-1.94	0.45042	N	0.575	0.59732	1.045	0.98012	D	0.939	0.98003	D	9	0.82146454	0.81349	D	0.086327	0.74714	D	0.611	0.84773	0.67	0.80803	0.955733713596	0.95526	0.7729936959233854	0.77249	0.525726381439	0.50218	0.559997797012	0.47268	T	0.484227	0.81163	T	0.107166	0.65057	D	0.0238173	0.71877	D	0.526333868503571	0.33599	D	0.782822	0.41925	T	0.15862724	0.35678	0.15584928	0.36514	0.15862724	0.35677	0.15584928	0.36513	-2.2	0.04040	T	.	.	0.269	0.50343	B	.	.	3.400380	0.47126	22.4	0.99843620216869244	0.92403	0.62936	0.31934	D	AEFI	0.152848	0.27761	N	0.359591275436926	0.59249	4.102668	0.322177306058753	0.56846	3.848591	0.00632638964302274	0.11188	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.43	4.43	0.52967	1.119000	0.30872	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.960000	0.51673	0.0:0.8962:0.0:0.1038	9.103	0.35839	791	0.46100	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	5307.06	142	chr5	135008023	.	C	T	5307.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.157;DP=778;ExcessHet=0.4139;FS=8.391;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.414;SOR=0.351	GT:AD:DP:GQ:PL	0/1:90,92:182:99:2367,0,2507	4	0	2	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	234.78	97	chr5	139887481	.	C	T	234.78	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.973;DP=517;ExcessHet=0.4139;FS=308.668;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=2.97;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,22:102:45:0|1:139887481_C_T:45,0,2359:139887481	3	0	2	1
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N,NRG2:NM_004883:exon2:c.G729C:p.K243N,NRG2:NM_013981:exon2:c.G729C:p.K243N,NRG2:NM_013982:exon2:c.G729C:p.K243N,NRG2:NM_013983:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|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	.	.	.	.	.	.	.	.	0.08333	227.21	81	chr5	139887483	.	C	G	227.21	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.262;DP=473;ExcessHet=0.4139;FS=308.668;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.12;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,22:102:45:0|1:139887481_C_T:45,0,2359:139887481	5	0	1	0
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	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	.	.	.	.	.	.	.	.	0.1667	1385.96	33	chr5	141303079	.	C	T	1385.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.635;DP=802;ExcessHet=3.1439;FS=217.575;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.14;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,59:184:99:0|1:141303079_C_T:630,0,2997:141303079	4	0	2	0
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	.	.	.	.	.	.	.	.	0.3	861.73	33	chr5	141303081	.	A	G	861.73	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.225;DP=788;ExcessHet=1.383;FS=172.154;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.94;ReadPosRankSum=1.59;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,43:185:99:0|1:141303079_C_T:259,0,4420:141303079	2	0	3	1
chr5	141399013	141399013	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G886A:p.E296K,PCDHGB5:NM_032099:exon1:c.G886A:p.E296K	.	431	1036	50	5	0	60	0.0281426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	0.00579073	0.0116	0.0014	0.0042	0	0.0115	0.0137	0.0169	0.0201	0.0105044	1624	154602	rs145783835	0.0097	0.0097	0.0091	0.0103	0.0205	0.0096	0.0095	0.0197	0.0194	0.0011	0.0044	0.0694	7.557e-05	0.0088	0.0175	0.0081	0.0128	0.0205	0.0077	0.0077	0.0075	0.0079	0.0168	0.0073	0.0072	0.0139	0.0128	0.0014	0	0.0067	0.0734	0.0004	0.0084	0.0136	0.0083	0.0076	0.0168	.	.	.	0.139	0.34009	T	0.268	0.31720	B	0.111	0.32014	B	.	.	.	.	0.999841	0.49770	D	1.815	0.47718	L	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.0034748316	0.00062	T	.	.	.	.	.	.	.	.	.	0.48512439086238984	0.48432	.	.	.	.	.	0.067878	0.33313	T	-0.321101	0.06807	T	-0.218421	0.52889	T	.	.	.	0.308469	0.05950	T	0.1453064	0.33314	0.41823596	0.65853	0.1453064	0.33314	0.41823596	0.65853	-5.246	0.39406	T	.	.	0.098	0.16187	B	.;.	.;.	2.124138	0.27037	17.33	0.55456761795019083	0.05346	0.10514	0.16000	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.961241225487468	0.28541	0.343041	0.05630	0	0.18701	0.04157	0	0.072005	0.02045	0	0.456374	0.07007	0	0.133118	0.26076	4.89	3.99	0.45527	0.313000	0.19165	.	.	0.653000	0.53440	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.0804:0.1482:0.7714:0.0	9.294	0.36965	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.005051	0.019022	0.008772	0.000000	0.000000	0.036585	0.011364	0.08333	1220.83	33	chr5	141399013	.	G	A	1220.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.434;DP=256;ExcessHet=0;FS=0.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.642;SOR=0.743	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1231,0,1243	5	0	1	0
chr5	141423488	141423488	A	G	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.A2261G:p.Y754C,PCDHGA11:NM_032091:exon1:c.A2261G:p.Y754C	.	8	1505	8	1	0	10	0.00331126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0404247355776	0.0013	0.000599042	0.0011	0.0001	0.0007	0	0	0.0016	0.0011	0.0009	0.0010026	155	154602	rs141810253	0.0009	0.0009	0.0008	0.0010	0.0026	0.0009	0.0009	0.0016	0.0013	0.0003	0.0009	0.0050	0	1.874e-05	0.0026	0.0008	0.0015	0.0012	0.0010	0.0010	0.0009	0.0010	0.0013	0.0008	0.0008	0.0011	0.0010	0.0002	0	0.0007	0.0069	0	0	0.0102	0.0013	0.0038	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.981	0.59675	D	0.791	0.57754	P	0.019513	0.27241	U	0.000000	1	0.81001	D	3.76	0.95097	H	0.7	0.51474	T	-8.51	0.97315	D	0.834	0.85766	0.017	0.82604	D	0.367	0.72735	T	10	0.094323754	0.16761	T	0.040425	0.59370	D	0.393	0.70844	.	.	0.851771965924	0.85034	0.3474161531975805	0.34655	1.20556773718	0.80698	.	.	.	0.099095	0.40356	T	-0.0386398	0.46150	T	0.136342	0.79306	D	0.147820850932256	0.16929	T	0.908709	0.67605	D	0.5291894	0.68784	0.6857102	0.81520	0.5291894	0.68785	0.6857102	0.81520	-9.22	0.72285	D	.	.	0.201	0.42491	B	.;.	.;.	4.867989	0.79722	27.2	0.99767028561535975	0.85583	0.95293	0.64160	D	AEFDBI	0.730648	0.67797	D	0.740963173741726	0.82315	7.732451	0.672539657845025	0.80300	7.268168	0.999999836208215	0.74766	0.609539	0.35627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	5.2	5.2	0.71720	3.614000	0.53901	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	15.044	0.71480	819	0.41190	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.003788	0.1667	5831.06	34	chr5	141423488	.	A	G	5831.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.36;DP=666;ExcessHet=0.4139;FS=0.518;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.709;SOR=0.745	GT:AD:DP:GQ:PL	0/1:139,113:252:99:3032,0,3951	4	0	2	0
chr5	148095825	148095825	C	T	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon10:c.C802T:p.R268C,SPINK5:NM_001127699:exon10:c.C802T:p.R268C,SPINK5:NM_006846:exon10:c.C802T:p.R268C	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	27	1458	31	6	0	43	0.0145319	.	.	.	297720	not_provided|Netherton_syndrome|Susceptibility_to_nonsyndromic_otitis_media|Ichthyosis_linearis_circumflexa|SPINK5-related_disorder	MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634|.|Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0066	0.00658946	0.0065	0.0013	0.0039	0.0001	0.0035	0.0079	0.0112	0.0101	0.006714	1038	154602	rs142558269	0.0087	0.0087	0.0087	0.0087	0.0105	0.0086	0.0085	0.0100	0.0097	0.0017	0.0046	0.0147	7.572e-05	0.0032	0.0089	0.0093	0.0091	0.0105	0.0059	0.0059	0.0061	0.0057	0.0094	0.0056	0.0055	0.0082	0.0080	0.0015	0	0.0062	0.0133	0	0.0032	0	0.0088	0.0076	0.0094	0.002	0.72154	D	0.011	0.67890	D	0.999	0.77913	D	0.84	0.63994	P	0.457645	0.04850	N	1.411360	1	0.08975	N	2.135	0.59519	M	3.22	0.07024	T	-1.0	0.34596	N	0.229	0.29081	-1.0069	0.27881	T	0.037	0.16073	T	10	0.010680467	0.00237	T	.	.	.	0.176	0.44373	.	.	0.387529464389	0.38369	0.41044028393339194	0.40960	0.508721426473	0.49020	0.264859616756	0.05483	T	0.190079	0.54450	T	-0.478885	0.00751	T	-0.451266	0.27559	T	0.0166026273520082	0.00421	T	0.872413	0.58094	D	0.44952396	0.64011	0.23519337	0.48756	0.37980315	0.59302	0.23519337	0.48755	-9.877	0.73172	D	0.20916742614886388	0.27994	0.172	0.43476	B	.;.;.;.	.;.;.;.	3.671994	0.52224	23.2	0.99857554378171398	0.93639	0.21134	0.21293	N	AEFBI	0.098471	0.19841	N	-0.0612750867355711	0.39100	2.300454	-0.243013744255273	0.30013	1.686233	0.973580626111447	0.29468	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.82	3.82	0.43153	1.044000	0.29939	2.039000	0.30291	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.277000	0.23942	0.0:1.0:0.0:0.0	11.519	0.49792	838	0.37812	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014141	0.005102	0.017663	0.002941	0.000000	0.025862	0.024540	0.007576	0.1667	1439.06	47	chr5	148095825	.	C	T	1439.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.524;DP=295;ExcessHet=0.4139;FS=1.462;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.533;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,24:56:99:1|0:148095823_A_G:565,0,1266:148095823	4	0	2	0
chr5	149259544	149259544	A	G	splicing	ABLIM3	NM_001301028:exon19:c.1606-2A>G	.	.	.	423	1063	33	3	0	39	0.0180139	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0129	0	0.0160	0	0.0006	0.0052	0.0055	0.0210	0.0016494	255	154602	rs534581717	0.0032	0.0031	0.0026	0.0039	0.0233	0.0032	0.0031	0.0224	0.0221	0.0002	0.0030	0.0096	2.798e-05	0.0005	0.0074	0.0018	0.0044	0.0233	0.0023	0.0023	0.0020	0.0027	0.0214	0.0021	0.0020	0.0180	0.0168	0.0002	0	0.0025	0.0072	0	9.418e-05	0.0068	0.0024	0.0057	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.840044	0.00003	T	-0.962521	0.00225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.095399	0.03670	0.738	0.27858813484829209	0.01403	0.00144	0.00877	N	AEFBI	.	.	.	-1.47130147512055	0.02055	0.09032965	-1.69724869164619	0.01149	0.05170863	0.999982787927218	0.51787	0.218109	0.04136	0	0.059962	0.00310	0	0.078618	0.02440	0	0.357269	0.05819	0	0.103113	0.22672	4.67	-8.31	0.00877	-2.807000	0.00827	-0.339000	0.09830	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3957:0.2122:0.2942:0.098	2.437	0.04212	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1436.06	34	chr5	149259544	.	A	G	1436.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.439;DP=277;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.148;SOR=0.653	GT:AD:DP:GQ:PL	0/1:31,31:62:99:774,0,904	4	0	2	0
chr5	150047729	150047729	G	C	exonic	HMGXB3	.	nonsynonymous SNV	HMGXB3:NM_001366501:exon16:c.G2558C:p.G853A,HMGXB3:NM_014983:exon17:c.G3056C:p.G1019A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00709926556252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419717917	7.146e-07	6.84e-07	0	1.449e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.37	0.16473	T	0.056	0.22806	B	0.028	0.21332	B	0.138964	0.18359	N	0.607663	1	0.08975	N	1.445	0.36358	L	.	.	.	-2.15	0.48687	N	0.215	0.24010	-1.0313	0.20034	T	0.073	0.29451	T	9	0.081051975	0.13226	T	0.007099	0.18814	T	0.079	0.23065	0.489	0.57415	0.0138822411134	0.00435	0.5381383291047536	0.53738	.	.	0.248992621899	0.03662	T	0.005008	0.20205	T	-0.26737	0.12052	T	-0.494056	0.22968	T	0.0262487452349716	0.01440	T	0.813719	0.46699	T	0.02448798	0.01285	0.04915418	0.07453	0.02448798	0.01285	0.04915418	0.07453	.	.	.	.	.	0.142	0.31228	B	.;.;.	.;.;.	0.932570	0.13078	9.582	0.51991479633356563	0.04664	0.25080	0.22591	N	AEFBI	0.111924	0.22142	N	-0.871613846597025	0.11521	0.5564523	-0.926924854048685	0.11460	0.5839383	0.988684120753873	0.31595	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	-0.567	0.11175	0.344000	0.19703	0.194000	0.15776	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.244000	0.23106	0.3378:0.1188:0.5435:0.0	6.258	0.20091	670	0.60992	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	3006.06	35	chr5	150047729	.	G	C	3006.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.87;DP=403;ExcessHet=0.4139;FS=1.531;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.731;SOR=0.643	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1296,0,1699	4	0	2	0
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2191.06	75	chr5	151507207	.	G	C	2191.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.76;DP=417;ExcessHet=0.4139;FS=0.555;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.846;SOR=0.645	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1303,0,1589	4	0	2	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	40846.1	393	chr5	157052557	.	C	*	40846.1	.	AC=4;AF=0.333;AN=12;DP=2554;ExcessHet=1.383;FS=2.719;MLEAC=4;MLEAF=0.333;MQ=60;QD=17.49;SOR=0.518	GT:AD:DP:GQ:PL	0/1:232,198:430:99:7500,0,8965	2	0	4	0
chr5	157505714	157505714	G	A	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon11:c.C1085T:p.S362L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0389826151698	.	.	4.993e-05	0	0	0	0	1.513e-05	0	0.0003	3.88e-05	6	154602	rs766806071	2.121e-05	2.121e-05	1.497e-05	2.75e-05	0.0002	1.52e-05	1.324e-05	0.0002	0.0001	5.974e-05	2.236e-05	0	2.519e-05	0	0	5.396e-06	1.656e-05	0.0002	1.973e-05	1.97e-05	3.856e-05	0	6.55e-05	5.25e-06	2.46e-06	.	.	2.415e-05	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.235	0.18000	T	0.231	0.25061	T	0.031	0.20130	B	0.004	0.10090	B	0.253684	0.15456	N	0.614391	0.956252	0.26305	N	1.22	0.30592	L	-2.19	0.86815	D	-1.2	0.30555	N	0.283	0.32037	-0.6186	0.64047	T	0.421	0.76623	T	10	0.08437154	0.14135	T	0.038983	0.58547	D	0.069	0.20116	.	.	0.682685154404	0.67998	0.30539801415623785	0.30452	0.46062844297	0.45616	0.346953511238	0.17472	T	0.122557	0.44631	T	-0.233795	0.16149	T	-0.294172	0.45336	T	0.0918554812669754	0.11436	T	0.70113	0.34859	T	0.06181946	0.12843	0.07176784	0.15407	0.06181946	0.12843	0.07176784	0.15407	-5.297	0.39913	T	.	.	0.077	0.06387	B	.;.	.;.	1.943262	0.24685	16.49	0.98402458433019591	0.41084	0.20531	0.21075	N	AEFDGBI	0.113530	0.22396	N	-0.635122559849403	0.17896	0.9248222	-0.576051544081054	0.20118	1.082472	0.999995272855815	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.91	3.16	0.35406	0.664000	0.24749	2.685000	0.34045	0.676000	0.76740	0.059000	0.21734	0.998000	0.33993	0.880000	0.42090	0.127:0.1153:0.6382:0.1195	5.398	0.15581	825	0.40060	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-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	.	.	.	.	.	.	.	.	0.1667	2333.06	34	chr5	157505714	.	G	A	2333.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.25;DP=329;ExcessHet=0.4139;FS=1.885;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.39;SOR=0.864	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1177,0,1274	4	0	2	0
chr5	168671424	168671424	C	T	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon34:c.G3922A:p.G1308S,SLIT3:NM_003062:exon34:c.G3901A:p.G1301S	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0247598888853	7.7e-05	.	5.1e-05	0	0	0.0001	0	3.082e-05	0	0.0002	3.88e-05	6	154602	rs369289265	1.848e-05	1.984e-05	1.225e-05	2.476e-05	0.0001	1.265e-05	1.084e-05	5.401e-05	4.046e-05	0	0	0	5.04e-05	0	0	1.439e-05	0	0.0001	5.255e-05	5.253e-05	7.706e-05	2.689e-05	0.0004	2.556e-05	1.83e-05	7.285e-05	3.027e-05	9.647e-05	0	0	0	0	0	0	2.939e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.032	0.20242	B	0.05	0.25278	B	0.000004	0.62929	D	0.105463	0.999939	0.51612	D	-0.56	0.02328	N	-0.5	0.70480	T	0.69	0.02195	N	0.209	0.23253	-0.8784	0.49888	T	0.138	0.45526	T	10	0.11558801	0.21780	T	0.02476	0.47746	T	0.184	0.45763	.	.	0.365319054842	0.36143	0.5547681476964378	0.55403	0.507590868077	0.48939	0.541760623455	0.44694	T	0.13612	0.46832	T	-0.277259	0.10960	T	-0.399371	0.33457	T	0.0730959067061317	0.09078	T	0.833117	0.50161	T	0.102799974	0.24294	0.15839958	0.36991	0.102799974	0.24293	0.15839958	0.36990	-4.956	0.36948	T	.	.	0.075	0.05579	B	.;.;.	.;.;.	2.868655	0.37927	20.6	0.83016291854325108	0.14497	0.84105	0.43190	D	AEFDBHCIJ	0.484694	0.52460	N	-0.476647665683061	0.22848	1.222849	-0.237433719730543	0.30205	1.698784	0.999802465815606	0.43304	0.487112	0.14033	0	0.547309	0.14657	0	0.440796	0.06475	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	2.136000	0.41744	5.881000	0.50644	0.599000	0.40250	0.959000	0.33545	1.000000	0.68203	0.793000	0.37436	0.0:1.0:0.0:0.0	18.371	0.90349	953	0.10115	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin 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	.	.	.	.	.	.	.	.	0.08333	875.83	34	chr5	168671424	.	C	T	875.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.142;DP=245;ExcessHet=0;FS=17.336;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.83;SOR=0.077	GT:AD:DP:GQ:PL	0/1:29,35:64:99:886,0,683	5	0	1	0
chr5	171213638	171213638	A	G	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon21:c.A2239G:p.T747A	.	432	1089	1	0	0	1	0.000458926	.	.	.	3472269	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.00726619364867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214238634	5.484e-06	5.474e-06	4.093e-06	6.888e-06	5.043e-05	2.36e-06	1.71e-06	8.36e-06	3.13e-06	0	0	0	5.043e-05	0	0	4.508e-06	0	1.16e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.801	0.03109	T	0.968	0.02496	T	0.0	0.02946	B	0.0	0.01387	B	0.343270	0.13929	N	0.680773	1	0.08975	N	-0.665	0.02058	N	-0.22	0.66474	T	0.12	0.05604	N	0.098	0.07949	-0.9564	0.39843	T	0.066	0.27156	T	10	0.062417626	0.07979	T	0.007266	0.19280	T	0.104	0.29647	0.63	0.76588	0.312001716656	0.30816	0.14871393823960954	0.14793	0.0258376164656	0.02637	0.287171334028	0.08511	T	0.001068	0.00587	T	-0.385518	0.02874	T	-0.622418	0.10997	T	0.0114743188170914	0.00172	T	0.616838	0.23625	T	0.029209211	0.02378	0.03346736	0.02247	0.029209211	0.02377	0.03346736	0.02247	-5.74	0.44048	T	.	.	0.053	0.00274	B	.	.	0.139413	0.05334	1.823	0.25942385079433977	0.01219	0.02538	0.07055	N	AEFI	0.037414	0.05142	N	-1.42311563107602	0.02436	0.1075972	-1.38877923108562	0.03370	0.1570881	0.00115363826534227	0.08283	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.17	-4.37	0.03381	-0.830000	0.04517	-0.395000	0.09449	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.2187:0.1106:0.5625:0.1083	7.355	0.25886	965	0.07246	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	921.83	37	chr5	171213638	.	A	G	921.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.216;DP=244;ExcessHet=0;FS=3.134;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.229;SOR=0.412	GT:AD:DP:GQ:PL	0/1:34,41:75:99:932,0,915	5	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	0.1667	1987.04	33	chr6	7414350	.	G	A	1987.04	.	AC=2;AF=0.167;AN=12;DP=235;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.57;SOR=1.249	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2007,195,0	5	1	0	0
chr6	7542003	7542003	G	A	exonic	DSP	.	nonsynonymous SNV	DSP:NM_001008844:exon1:c.G88A:p.V30M,DSP:NM_001319034:exon1:c.G88A:p.V30M,DSP:NM_004415:exon1:c.G88A:p.V30M	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	31885	not_specified|Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|Keratosis_palmoplantaris_striata_2|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|not_provided|Cardiovascular_phenotype|Right_ventricular_cardiomyopathy|DSP-related_disorder|Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.387	0.23017066898	0.0012	0.00219649	0.0031	0.0005	0.0010	0	0.0008	0.0033	0.0056	0.0057	0.0014812	229	154602	rs121912998	0.0014	0.0014	0.0012	0.0015	0.0084	0.0013	0.0013	0.0065	0.0058	0.0002	0.0009	0.0003	0	0.0002	0.0084	0.0013	0.0014	0.0042	0.0011	0.0011	0.0009	0.0014	0.0058	0.0010	0.0010	0.0041	0.0036	9.621e-05	0	0.0022	0.0003	0.0002	0	0.0034	0.0015	0.0009	0.0058	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.679581	0.06084	N	1.298300	2.51393e-07	0.08975	A	-0.695	0.01866	N	-0.46	0.73205	T	0.4	0.04233	N	0.129	0.12341	-1.1277	0.01896	T	0.028	0.12190	T	9	0.03806615	0.02200	T	0.230171	0.88218	D	0.387	0.70358	.	.	0.985536144344	0.98538	0.20338608805480365	0.20255	0.217344145385	0.24254	0.63002461195	0.57148	T	0.136982	0.46967	T	-0.327484	0.06304	T	-0.243055	0.50500	T	0.00928721387385083	0.00118	T	0.588241	0.21547	T	0.03418493	0.03789	0.070747614	0.15068	0.030420057	0.02701	0.06259425	0.12270	-3.964	0.23263	T	.	.	0.066	0.02639	B	.;.	.;.	-1.164488	0.00568	0.014	0.93041355189273778	0.22645	0.00527	0.02446	N	AEFDGBCIJ	0.020998	0.00888	N	-2.24236171749225	0.00062	0.00263961	-2.25981004249229	0.00082	0.003601877	0.999999999999126	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.67	-7.34	0.01280	-0.807000	0.04627	-0.336000	0.09852	-1.957000	0.00479	0.123000	0.23227	0.002000	0.18203	0.022000	0.11911	0.5813:0.0973:0.2244:0.0971	4.332	0.10505	780	0.47616	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004065	0.000000	0.004087	0.000000	0.000000	0.000000	0.009375	0.007576	0.1667	2103.04	37	chr6	7542003	.	G	A	2103.04	.	AC=2;AF=0.167;AN=12;DP=255;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.21;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2123,216,0	5	1	0	0
chr6	10874330	10874330	-	CTGGTAGGC	exonic	GCM2	.	nonframeshift insertion	GCM2:NM_004752:exon5:c.1185_1186insGCCTACCAG:p.Q395_P396insAYQ	Hyperparathyroidism 4, Autosomal dominant;Hypoparathyroidism, familial isolated, Autosomal dominant	0	1490	30	2	0	34	0.0112807	.	.	.	699240	GCM2-related_disorder|not_specified|Hyperparathyroidism_4|Hypoparathyroidism,_familial_isolated,_2|not_provided	.|MedGen:CN169374|MONDO:MONDO:0024570,MedGen:C4479229,OMIM:617343|MONDO:MONDO:0020798,MedGen:C5394383,OMIM:618883|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0014	0.0002	0.0039	0	0	0.0013	0.0055	0.0014	0.0001423	22	154602	rs551375300	0.0013	0.0013	0.0012	0.0014	0.0154	0.0013	0.0012	0.0128	0.0119	0.0008	0.0038	0.0001	2.519e-05	0.0002	0.0154	0.0012	0.0025	0.0016	0.0011	0.0011	0.0012	0.0011	0.0033	0.0010	0.0010	0.0026	0.0023	0.0004	0	0.0033	0.0003	0	0	0.0170	0.0013	0.0024	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4268.01	37	chr6	10874330	.	G	GCTGGTAGGC	4268.01	.	AC=2;AF=0.167;AN=12;DP=288;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.15;SOR=0.778	GT:AD:DP:GQ:PL	1/1:0,96:96:99:4288,287,0	5	1	0	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	503.44	70	chr6	24145554	.	C	T	503.44	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.692;DP=350;ExcessHet=3.1439;FS=221.294;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.783;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,13:46:79:.:.:79,0,486:.	3	0	3	0
chr6	26234813	26234813	C	T	exonic	H1-3	.	nonsynonymous SNV	H1-3:NM_005320:exon1:c.G121A:p.V41I	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	0.0046	0.00399361	0.0058	0.0010	0.0030	0.0039	0.0129	0.0055	0.0099	0.0100	0.0053557	828	154602	rs138815183	0.0053	0.0053	0.0051	0.0054	0.0093	0.0052	0.0051	0.0088	0.0086	0.0005	0.0032	0.0091	0.0034	0.0096	0.0066	0.0049	0.0055	0.0093	0.0047	0.0047	0.0042	0.0052	0.0097	0.0044	0.0043	0.0075	0.0067	0.0009	0	0.0029	0.0098	0.0060	0.0128	0.0068	0.0056	0.0033	0.0097	0.048	0.40068	D	0.158	0.31629	T	0.597	0.39250	P	0.627	0.51631	P	0.000087	0.51296	D	0.128541	0.997953	0.44355	D	1.585	0.39878	L	1.87	0.24085	T	-0.75	0.21003	N	0.34	0.38129	-1.0925	0.05128	T	0.076	0.30366	T	10	0.008906364	0.00202	T	.	.	.	0.152	0.39956	.	.	0.227260227426	0.22338	0.31057606082478634	0.30970	.	.	0.370933145285	0.20965	T	0.118648	0.43961	T	-0.330169	0.06099	T	-0.240076	0.50792	T	0.116874141626348	0.14120	T	0.89611	0.63771	D	0.25726968	0.48770	0.3600076	0.61450	0.25726968	0.48770	0.3600076	0.61449	-8.862	0.66804	D	.	.	0.267	0.50147	B	.	.	3.486283	0.48708	22.7	0.99815921418581843	0.89973	0.07595	0.13605	N	ALL	0.553990	0.56502	D	0.24476713358181	0.53380	3.50717	0.227451068667743	0.51377	3.320666	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.12	4.23	0.49319	2.698000	0.46736	2.481000	0.32940	0.599000	0.40250	1.000000	0.71638	0.988000	0.31051	0.013000	0.09966	0.0:0.9205:0.0:0.0795	13.726	0.62238	702	0.57624	Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010101	0.002717	0.002924	0.100000	0.000000	0.012195	0.003788	0.08333	793.83	39	chr6	26234813	.	C	T	793.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.672;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.005;SOR=0.717	GT:AD:DP:GQ:PL	0/1:52,33:85:99:804,0,1574	5	0	1	0
chr6	26240469	26240469	G	T	exonic	H4C6	.	nonsynonymous SNV	H4C6:NM_003540:exon1:c.G44T:p.G15V	.	62	1457	3	0	0	3	0.00102845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.0652501661227	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1202987486	6.236e-06	6.156e-06	4.12e-06	8.39e-06	0.0004	2.93e-06	2.13e-06	6.155e-05	2.545e-05	0	0	0	0	0	0.0004	3.639e-06	5.042e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.059	0.45961	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-7.08	0.93927	D	0.859	0.85554	-0.3976	0.72103	T	0.318	0.68709	T	6	0.7756492	0.77436	D	0.06525	0.69523	D	.	.	0.184	0.09259	0.234412748748	0.23057	0.13861459206904642	0.13784	.	.	0.846327066422	0.89059	D	.	.	.	0.301214	0.83067	D	0.194896	0.82847	D	0.997942626476288	0.92822	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.966163	0.58200	24.0	0.97782995481559432	0.35944	0.38581	0.26020	N	ALL	0.861436	0.77950	D	0.331293335557105	0.57761	3.944815	0.326597348757125	0.57108	3.875481	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.48	4.48	0.53973	9.569000	0.97327	9.240000	0.79416	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	16.694	0.85189	707	0.57054	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1743.83	117	chr6	26240469	.	G	T	1743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.746;DP=398;ExcessHet=0;FS=1.423;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=2.49;SOR=0.886	GT:AD:DP:GQ:PL	0/1:63,65:128:99:1754,0,1670	5	0	1	0
chr6	27401095	27401095	T	C	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.T725C:p.I242T,ZNF391:NM_001322293:exon3:c.T725C:p.I242T,ZNF391:NM_001322288:exon4:c.T725C:p.I242T,ZNF391:NM_001322289:exon4:c.T725C:p.I242T	.	416	1090	14	2	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	0.0002	0.00439297	0.0012	0.0001	0.0003	0.0077	0.0014	0.0002	0.0022	0.0028	0.001119	173	154602	rs58690463	0.0016	0.0016	0.0015	0.0017	0.0432	0.0016	0.0015	0.0414	0.0408	5.974e-05	0.0002	3.826e-05	0.0432	0.0011	0.0035	0.0002	0.0011	0.0032	0.0010	0.0010	0.0009	0.0012	0.0191	0.0009	0.0008	0.0160	0.0149	7.226e-05	0	0.0001	0	0.0191	0.0012	0	0.0003	0.0014	0.0029	0.395	0.10659	T	0.156	0.31833	T	0.999	0.77913	D	0.978	0.74104	D	.	.	.	.	1	0.08975	N	-1.01	0.01154	N	3.04	0.08810	T	-1.62	0.38924	N	0.106	0.09066	-1.0136	0.25784	T	0.008	0.02926	T	9	0.008790642	0.00199	T	.	.	.	0.157	0.40909	.	.	0.232513804876	0.22884	0.01728319909283035	0.01683	0.450892133838	0.44853	0.633433222771	0.57632	T	0.061051	0.31551	T	-0.682337	0.00046	T	-0.710412	0.05274	T	0.0445116463601758	0.04513	T	0.0707929	0.00516	T	0.05663609	0.11168	0.06492421	0.13085	0.05663609	0.11167	0.06492421	0.13084	-3.31	0.13866	T	.	.	0.705	0.73165	P	.	.	1.882060	0.23905	16.20	0.99214041864008651	0.55685	0.01138	0.04130	N	AEFGBHCI	0.032638	0.03724	N	-0.415014661257226	0.24942	1.350422	-0.535500767217852	0.21192	1.145254	7.81843071204859E-5	0.04552	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	4.01	1.61	0.22752	-0.246000	0.08896	0.290000	0.16862	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.919000	0.45453	0.1965:0.2262:0.0:0.5773	2.646	0.04683	568	0.70638	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	0.004028	0.000000	0.005435	0.002924	0.000000	0.000000	0.006098	0.003788	0.08333	1244.83	34	chr6	27401095	.	T	C	1244.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.14;DP=266;ExcessHet=0;FS=1.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.834;SOR=0.898	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1255,0,1197	5	0	1	0
chr6	27401332	27401332	T	C	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.T962C:p.I321T,ZNF391:NM_001322293:exon3:c.T962C:p.I321T,ZNF391:NM_001322288:exon4:c.T962C:p.I321T,ZNF391:NM_001322289:exon4:c.T962C:p.I321T	.	.	.	.	.	.	.	.	.	.	.	2300101	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.00154277054455	8e-05	.	2.486e-05	0	0	0	0.0002	3.001e-05	0	0	2.59e-05	4	154602	rs374936870	3.831e-05	3.831e-05	3.131e-05	4.538e-05	0.0002	3.025e-05	2.719e-05	2.995e-05	2.038e-05	0	2.236e-05	0	2.519e-05	0	0.0002	2.788e-05	0.0003	6.956e-05	4.603e-05	4.598e-05	3.856e-05	5.384e-05	0.0004	2.111e-05	1.528e-05	7.293e-05	3.03e-05	2.416e-05	0	0	0	0	0	0	5.88e-05	0	0.0004	0.616	0.05372	T	0.575	0.08654	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.98	0.01198	N	1.19	0.37578	T	1.23	0.01037	N	0.08	0.05542	-0.9518	0.40660	T	0.008	0.02842	T	9	0.024014503	0.00646	T	0.001543	0.02420	T	0.010	0.01040	.	.	0.0806252709748	0.07271	0.017348818072048015	0.01689	0.170945335344	0.19261	0.460698544979	0.33406	T	0.013482	0.11655	T	-0.433514	0.01412	T	-0.678962	0.07047	T	0.00992272049256081	0.00132	T	0.130387	0.01025	T	0.018568318	0.00379	0.03926868	0.03981	0.018568318	0.00378	0.03926868	0.03981	-3.321	0.14010	T	.	.	0.316	0.54190	B	.	.	0.455212	0.08249	4.993	0.52101232043628887	0.04684	0.00985	0.03747	N	AEDBHCI	0.035766	0.04658	N	-1.56480820616184	0.01450	0.06326162	-1.5398935420102	0.02046	0.09354341	1.63777308997476E-4	0.05721	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	3.91	-3.57	0.04316	-0.785000	0.04735	-0.871000	0.07103	-0.860000	0.02636	0.000000	0.06391	0.000000	0.08366	0.555000	0.30293	0.1463:0.3966:0.0:0.4571	4.943	0.13325	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	426.83	28	chr6	27401332	.	T	C	426.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=199;ExcessHet=0;FS=1.311;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.231;SOR=1.049	GT:AD:DP:GQ:PL	0/1:30,16:46:99:437,0,830	5	0	1	0
chr6	28329373	28329373	G	A	exonic	ZSCAN31	.	nonsynonymous SNV	ZSCAN31:NM_001135216:exon2:c.C311T:p.P104L,ZSCAN31:NM_001243241:exon2:c.C311T:p.P104L,ZSCAN31:NM_030899:exon2:c.C311T:p.P104L,ZSCAN31:NM_001135215:exon6:c.C311T:p.P104L,ZSCAN31:NM_145909:exon6:c.C311T:p.P104L	.	.	.	.	.	.	.	.	.	.	.	2363503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.161	0.00512351435775	7.7e-05	0.000199681	7.467e-05	0	0	0	0.0002	7.523e-05	0	0.0002	7.76e-05	12	154602	rs143813425	0.0001	0.0001	0.0001	0.0001	0.0005	8.916e-05	8.401e-05	0.0001	7.72e-05	2.988e-05	2.238e-05	0	2.519e-05	3.744e-05	0.0005	9.803e-05	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	0.0008	8.66e-05	7.252e-05	0.0003	0.0002	7.22e-05	0	0	0	0	0	0	0.0002	0	0.0008	0.526	0.27194	T	0.258	0.92824	T	0.991	0.64070	D	0.811	0.58656	P	.	.	.	.	1	0.81001	D	1.68	0.43186	L	3.16	0.07711	T	-7.3	0.98325	D	0.214	0.26475	-1.1011	0.03961	T	0.035	0.15204	T	9	0.17798558	0.32861	T	0.005124	0.13001	T	0.161	0.41658	.	.	0.20549828249	0.20151	0.4156563661991281	0.41481	0.497875597415	0.48274	0.354321420193	0.18556	T	0.018128	0.43165	T	-0.382817	0.02990	T	-0.550998	0.17229	T	0.234556078687276	0.22167	T	0.906109	0.66926	D	0.23716168	0.46576	0.24524488	0.50008	0.23716168	0.46576	0.24524488	0.50007	-8.323	0.63250	D	.	.	0.403	0.63580	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.726650	0.21980	15.43	0.94926951600257736	0.25808	0.15933	0.19151	N	AEFBHCI	0.145430	0.26864	N	0.0922163218538058	0.46101	2.855688	-0.0852683616202427	0.35997	2.089455	0.320194401609838	0.19376	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	3.89	0.44098	1.298000	0.33017	2.034000	0.30268	0.596000	0.33519	0.762000	0.29265	0.955000	0.29136	0.520000	0.29475	0.0856:0.0:0.9144:0.0	12.127	0.53227	576	0.70006	SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1824.83	33	chr6	28329373	.	G	A	1824.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.16;DP=300;ExcessHet=0;FS=10.022;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=1.93;SOR=0.314	GT:AD:DP:GQ:PL	0/1:54,67:121:99:1835,0,1211	5	0	1	0
chr6	29396908	29396908	G	T	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.G209T:p.C70F	.	436	1026	55	3	2	63	0.0288689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	.	0.0053	0.00479233	0.0063	0.0012	0.0044	0.0002	0.0053	0.0065	0.0069	0.0130	0.005705	882	154602	rs36210740	0.0058	0.0058	0.0055	0.0062	0.0265	0.0057	0.0057	0.0231	0.0218	0.0017	0.0055	0.0119	7.557e-05	0.0045	0.0265	0.0053	0.0065	0.0141	0.0051	0.0051	0.0051	0.0052	0.0133	0.0048	0.0047	0.0107	0.0097	0.0017	0.0088	0.0056	0.0124	0.0002	0.0049	0.0102	0.0065	0.0071	0.0133	.	.	.	.	.	.	0.005	0.12996	B	0.008	0.13708	B	0.000217	0.47681	D	0.093597	0.999788	0.20372	N	0.915	0.23335	L	.	.	.	.	.	.	.	.	-0.7101	0.59947	T	0.229	0.59434	T	10	0.006487787	0.00147	T	.	.	.	.	.	.	.	.	.	0.17590871544809583	0.17509	.	.	0.250938415527	0.03867	T	0.008906	0.08144	T	-0.460558	0.00976	T	-0.422012	0.30845	T	0.0155577715639851	0.00353	T	0.59804	0.22252	T	0.17767172	0.38745	0.26035833	0.51798	0.17767172	0.38745	0.26035833	0.51797	-6.265	0.48445	T	.	.	0.105	0.19438	B	.;.	.;.	0.379155	0.07510	4.157	0.74111386093232068	0.10574	0.02074	0.06175	N	AEFBI	0.029282	0.02736	N	-0.758143495804165	0.14413	0.717744	-0.849903892683557	0.13290	0.6886131	9.24015489445909E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	2.22	0.27116	0.853000	0.27431	.	.	0.400000	0.20548	0.000000	0.06391	0.000000	0.08366	0.180000	0.21296	0.0:0.1475:0.6996:0.1529	10.202	0.42266	814	0.42100	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	.	.	.	.	.	.	.	.	0.08333	2847.83	177	chr6	29396908	.	G	T	2847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.205;DP=692;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.4;SOR=0.712	GT:AD:DP:GQ:PL	0/1:126,105:231:99:2858,0,3459	5	0	1	0
chr6	30986917	30986961	CCCTCCAGTGGGGCCGGCACAGCCACCAACTCTGAGTCCAGCACG	-	exonic	MUC21	.	nonframeshift deletion	MUC21:NM_001010909:exon2:c.742_786del:p.P248_T262del,MUC21:NM_001322371:exon3:c.742_786del:p.N250_S264del,MUC21:NM_001322370:exon4:c.742_786del:p.N250_P567delinsSGASTATNSDSSTVSSGASTATNSESSTTSSGASTATNSESSTTSSGASTATNSDSSTTSSGAGTATNSESSTVSSGISTVTNSESSTPSSGANTATNSESSTTSSGANTATNSESSTVSSGASTATNSESSTTSSGVSTATNSESSTTSSGASTATNSDSSTTSSEASTATNSESSTVSSGISTVTNSESSTTSSGANTATNSGSSVTSAGSGTAALTGMHTTSHSASTAVSEAKPGGSLVPWEIFLITLVSVVAAVGLFAGLFFCVRNSLSLRNTFNTAVYHPHGLNHGLGPGPGGNHGAPHRPRWSPNWFWRRPVSSIAMEMSGRNSGP*	.	469	1008	16	1	28	46	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0006	0.0005	0.0002	0.0002	0.0004	0	6.108e-05	0.0002689	7	26028	rs757670775	0.0012	0.0016	0.0011	0.0012	0.0034	0.0011	0.0011	0.0029	0.0027	0.0027	0.0034	0.0035	0.0030	0.0010	0.0009	0.0009	0.0019	0.0009	0.0027	0.0031	0.0029	0.0024	0.0035	0.0024	0.0023	0.0026	0.0023	0.0029	0.0014	0.0035	0.0026	0.0020	0.0031	0.0065	0.0025	0.0035	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7434.05	308	chr6	30986916	.	ACCCTCCAGTGGGGCCGGCACAGCCACCAACTCTGAGTCCAGCACG	A	7434.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.899;DP=1695;ExcessHet=0.4139;FS=0.569;MLEAC=1;MLEAF=0.083;MQ=56.26;MQRankSum=-0.678;QD=9.43;ReadPosRankSum=2.03;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,139:480:99:0|1:30986886_C_T:4606,0,13412:30986886	5	0	1	0
chr6	30986917	30986917	C	0	exonic	MUC21	.	.	.	.	464	909	105	3	41	152	0.0575428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2976.0	296	chr6	30986917	.	C	*	2976.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.88;DP=1620;ExcessHet=0.4139;FS=1.097;MLEAC=1;MLEAF=0.083;MQ=56.22;MQRankSum=-2.909;QD=5.08;ReadPosRankSum=0.323;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,139:408:99:1|0:30986886_C_T:4969,0,8709:30986886	5	0	1	0
chr6	30986918	30986918	C	0	exonic	MUC21	.	.	.	.	455	948	112	3	4	122	0.0585899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1631.04	296	chr6	30986918	.	C	*	1631.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.46;DP=1623;ExcessHet=0.4139;FS=1.143;MLEAC=1;MLEAF=0.083;MQ=56.15;MQRankSum=-2.539;QD=2.32;ReadPosRankSum=0.646;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,139:407:99:1|0:30986886_C_T:4972,0,8681:30986886	5	0	1	0
chr6	30986919	30986919	C	0	exonic	MUC21	.	.	.	.	455	949	112	2	4	120	0.0575968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1564.04	297	chr6	30986919	.	C	*	1564.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.41;DP=1614;ExcessHet=0.4139;FS=1.801;MLEAC=1;MLEAF=0.083;MQ=56.12;MQRankSum=-2.554;QD=2.25;ReadPosRankSum=0.56;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,139:398:99:1|0:30986886_C_T:4995,0,8397:30986886	5	0	1	0
chr6	30986932	30986932	G	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6711.03	329	chr6	30986932	.	G	*	6711.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.39;DP=1619;ExcessHet=0.4139;FS=0.517;MLEAC=1;MLEAF=0.083;MQ=55.94;MQRankSum=-3.535;QD=9.41;ReadPosRankSum=-0.464;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,139:384:99:1|0:30986886_C_T:4993,0,8328:30986886	5	0	1	0
chr6	30986937	30986937	A	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	810.04	338	chr6	30986937	.	A	*	810.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.425;DP=1621;ExcessHet=0.4139;FS=0.568;MLEAC=1;MLEAF=0.083;MQ=56.04;MQRankSum=-3.75;QD=1.12;ReadPosRankSum=0.924;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,139:388:99:1|0:30986886_C_T:4963,0,8706:30986886	5	0	1	0
chr6	31025858	31025858	A	G	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.A427G:p.I143V,MUC22:NM_001318484:exon3:c.A436G:p.I146V,MUC22:NM_001322469:exon3:c.A436G:p.I146V	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0209665	0.0039	0	0.0326	0.0417	.	0.0029	0.0167	0.0031	0.0026843	415	154602	rs78457009	0.0090	0.0086	0.0093	0.0088	0.0497	0.0089	0.0089	0.0478	0.0470	0.0020	0.0396	0.0007	0.0497	0.0147	0.0021	0.0075	0.0076	0.0031	0.0096	0.0096	0.0090	0.0102	0.0325	0.0092	0.0090	0.0301	0.0292	0.0024	0.0186	0.0325	0.0006	0.0309	0.0140	0.0034	0.0073	0.0118	0.0025	0.0	0.91255	D	0.212	0.26549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.61	0.13095	T	-0.09	0.08340	N	0.055	0.02658	.	.	.	.	.	.	.	0.0026974082	0.00042	T	.	.	.	.	.	.	.	.	.	0.003769958394675259	0.00352	.	.	0.152525603771	0.00005	T	0.005011	0.04439	T	-0.709629	0.00032	T	-0.73946	0.03913	T	.	.	.	0.357564	0.08149	T	0.058027174	0.11622	0.06386885	0.12716	0.058027174	0.11621	0.06386885	0.12716	-2.441	0.05390	T	.	.	0.073	0.04764	B	.	.	-0.964888	0.00822	0.028	0.13935122801748498	0.00291	0.00121	0.00759	N	AEFBI	0.013185	0.00167	N	.	.	.	.	.	.	0.031256151838067	0.13991	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.47	-2.65	0.05739	-0.772000	0.04800	.	.	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4559:0.0:0.5441:0.0	7.866	0.28699	929	0.16858	.	.	.	.	.	rs117948763	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004706	0.000000	0.004000	0.000000	0.000000	0.000000	0.010753	0.009259	0.08333	3736.83	248	chr6	31025858	.	A	G	3736.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.78;DP=1525;ExcessHet=0;FS=3.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.134;SOR=0.908	GT:AD:DP:GQ:PL	0/1:137,130:267:99:3747,0,3654	5	0	1	0
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028403	0.010101	0.010870	0.086957	0.000000	0.035088	0.037037	0.041667	0.08333	1498.83	61	chr6	31138459	.	G	A	1498.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.81;DP=364;ExcessHet=0;FS=1.544;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.543;SOR=0.904	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1509,0,1333	5	0	1	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E,HLA-C:NM_002117:exon3:c.C610G:p.Q204E	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	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	0.003788	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	93.83	104	chr6	31271082	.	G	C	93.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.734;DP=536;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.46;MQRankSum=-6.979;QD=0.82;ReadPosRankSum=-1.76;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,10:115:99:0|1:31271082_G_C:104,0,4318:31271082	5	0	1	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D,HLA-C:NM_002117:exon3:c.G603C:p.E201D	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	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	0.007559	0.010101	0.013587	0.009709	0.000000	0.000000	0.003049	0.003788	0.08333	106.83	104	chr6	31271089	.	C	G	106.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.692;DP=542;ExcessHet=0;FS=1.245;MLEAC=1;MLEAF=0.083;MQ=55.94;MQRankSum=-6.741;QD=0.9;ReadPosRankSum=-1.051;SOR=0.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,11:119:99:0|1:31271082_G_C:117,0,4354:31271082	5	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10621.8	127	chr6	31356247	.	C	*	10621.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=542;ExcessHet=1.383;FS=1.94;MLEAC=2;MLEAF=0.167;MQ=48.46;MQRankSum=-0.988;QD=19.93;ReadPosRankSum=0.437;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,44:149:99:.:.:4147,2562,4053:.	4	0	2	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1898.64	36	chr6	31356431	.	G	*	1898.64	.	AC=4;AF=0.333;AN=12;DP=258;ExcessHet=1.383;FS=0.513;MLEAC=4;MLEAF=0.333;MQ=55.96;QD=7.45;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,34:70:99:0|1:31356417_G_A:1319,0,1409:31356417	2	0	4	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	911.56	68	chr6	31356716	.	CA	*	911.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.317;DP=301;ExcessHet=3.1439;FS=8.639;MLEAC=7;MLEAF=0.583;MQ=57.29;MQRankSum=-5.189;QD=3.03;ReadPosRankSum=0.379;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,30:67:99:0|1:31356711_C_CGGAG:1148,0,1463:31356711	1	2	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	959.56	67	chr6	31356719	.	GT	*	959.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.85;DP=306;ExcessHet=3.1439;FS=9.668;MLEAC=7;MLEAF=0.583;MQ=57.16;MQRankSum=-5.204;QD=3.14;ReadPosRankSum=0.145;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,30:69:99:0|1:31356711_C_CGGAG:1142,0,1547:31356711	1	2	3	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	970.0	94	chr6	31356748	.	CCT	*	970.0	.	AC=10;AF=0.833;AN=12;DP=405;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=52.02;QD=2.4;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,89:89:99:1|1:31356747_GCC_G:4005,268,0:31356747	1	5	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4040.99	132	chr6	31356827	.	T	*	4040.99	.	AC=9;AF=0.75;AN=12;DP=671;ExcessHet=0;FS=3.165;MLEAC=9;MLEAF=0.75;MQ=54.87;QD=6.07;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,70:141:99:0|1:31356809_C_T:2696,0,2764:31356809	0	3	3	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	0.08333	1890.83	81	chr6	31415054	.	C	T	1890.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=498;ExcessHet=0;FS=4.613;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-1.124;SOR=1.04	GT:AD:DP:GQ:PL	0/1:89,77:166:99:1901,0,2182	5	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	2026.55	105	chr6	31625601	.	T	C	2026.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.14;DP=643;ExcessHet=11.5949;FS=279.671;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=1.33;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,24:120:99:0|1:31625601_T_C:323,0,3527:31625601	0	0	6	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	2340.55	105	chr6	31625602	.	G	A	2340.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.649;DP=645;ExcessHet=11.5949;FS=309.606;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=1.19;SOR=8.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,24:120:99:0|1:31625601_T_C:323,0,3527:31625601	0	0	6	0
chr6	31634877	31634877	C	T	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon21:c.C5060T:p.P1687L,PRRC2A:NM_080686:exon21:c.C5060T:p.P1687L	.	424	1097	1	0	0	1	0.000455581	.	.	.	3210601	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0122031471285	0.0007	0.000998403	0.0022	0.0001	0.0004	0	0.0100	0.0029	0.0035	0	0.0020828	322	154602	rs115464946	0.0016	0.0016	0.0017	0.0016	0.0014	0.0016	0.0015	0.0014	0.0014	0.0002	0.0006	0.0001	0	0.0122	0.0003	0.0014	0.0015	0	0.0020	0.0020	0.0017	0.0024	0.0022	0.0018	0.0018	0.0019	0.0018	0.0002	0.0033	0.0008	0	0	0.0124	0	0.0022	0.0028	0	0.025	0.47320	D	0.004	0.74150	D	0.839	0.46454	P	0.351	0.42849	B	0.000660	0.42656	D	0.107038	0.999702	0.48408	D	0.805	0.20218	L	4.6	0.01868	T	-1.53	0.37178	N	0.246	0.31814	-0.7922	0.55601	T	0.006	0.01907	T	10	0.006285906	0.00142	T	0.012203	0.30559	T	0.092	0.26621	.	.	0.043077524339	0.03247	0.4989661120455982	0.49817	0.159160048467	0.17961	0.587375283241	0.51124	T	0.007178	0.06595	T	-0.527671	0.00396	T	-0.536287	0.18662	T	0.0205908046288077	0.00759	T	0.880912	0.59977	D	0.103965156	0.24574	0.08780793	0.20434	0.103965156	0.24574	0.08780793	0.20433	-4.072	0.24876	T	.	.	0.103	0.19598	B	.;.	.;.	4.171365	0.62719	24.5	0.95583805663741628	0.27294	0.96406	0.68982	D	AEFDBHCI	0.476474	0.51987	N	0.378193423557861	0.60241	4.211011	0.450815582522729	0.64767	4.739883	0.999999525820232	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.36	5.36	0.76624	1.764000	0.38100	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	14.454	0.66981	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000545	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1312.83	36	chr6	31634877	.	C	T	1312.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=285;ExcessHet=0;FS=2.769;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.69;SOR=0.584	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1323,0,1108	5	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	0.08333	1238.83	39	chr6	31724618	.	C	T	1238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=282;ExcessHet=0;FS=5.079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.253;SOR=0.592	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1249,0,1457	5	0	1	0
chr6	31733568	31733568	T	C	exonic	CLIC1	.	nonsynonymous SNV	CLIC1:NM_001288:exon4:c.A380G:p.D127G,CLIC1:NM_001287593:exon5:c.A380G:p.D127G,CLIC1:NM_001287594:exon5:c.A380G:p.D127G	.	437	1075	10	0	0	10	0.00462963	0.0711	0.358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	.	0.0005	0.00559105	0.0026	0.0001	0.0018	0.0002	0.0020	0.0005	0.0023	0.0143	0.0022768	352	154602	rs151059852	0.0013	0.0013	0.0009	0.0016	0.0134	0.0012	0.0012	0.0128	0.0125	0.0001	0.0011	3.828e-05	7.559e-05	0.0014	0.0029	0.0004	0.0016	0.0134	0.0010	0.0010	0.0007	0.0014	0.0157	0.0009	0.0008	0.0129	0.0119	4.812e-05	0	0.0018	0	0.0004	0.0013	0	0.0005	0.0005	0.0157	0.023	0.48186	D	0.027	0.55341	D	0.007	0.14184	B	0.032	0.22131	B	0.014296	0.28577	U	0.267267	0.99998	0.54805	D	1.845	0.48678	L	-3.42	0.94348	D	-2.59	0.55821	D	0.166	0.17553	0.400	0.89089	D	0.697	0.89554	D	10	0.005486667	0.00121	T	.	.	.	0.347	0.66863	.	.	0.969174787958	0.96884	0.5720687258347609	0.57134	0.611611360637	0.55790	0.446651995182	0.31487	T	0.576593	0.86068	D	-0.256282	0.13338	T	-0.129877	0.60983	T	0.0378625345386181	0.03308	T	.	.	.	0.6046307	0.72940	0.34746644	0.60400	0.6046307	0.72941	0.34746644	0.60400	-4.711	0.33537	T	.	.	0.104	0.18991	B	.;.;.;.;.	.;.;.;.;.	3.949494	0.57854	23.9	0.9924041510822682	0.56533	0.93097	0.57320	D	AEFBCI	0.546915	0.56082	D	-0.063863049582585	0.38986	2.291878	0.0453033912566245	0.41846	2.520833	0.999999888756316	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.35	4.25	0.49658	1.463000	0.34887	.	.	0.665000	0.62972	0.912000	0.31733	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.2044:0.7956	10.300	0.42829	889	0.27310	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	902.83	34	chr6	31733568	.	T	C	902.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=251;ExcessHet=0;FS=1.853;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.22;SOR=0.892	GT:AD:DP:GQ:PL	0/1:43,36:79:99:913,0,1050	5	0	1	0
chr6	31791962	31791962	C	G	exonic	VARS1	.	nonsynonymous SNV	VARS1:NM_006295:exon7:c.G881C:p.G294A	.	418	1093	11	0	0	11	0.00500683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	0.00519169	0.0030	0.0001	0.0021	0.0003	0.0018	0.0007	0.0031	0.0202	0.0020569	318	154602	rs5030796	0.0012	0.0012	0.0009	0.0016	0.0131	0.0012	0.0011	0.0124	0.0122	0.0001	0.0011	4.071e-05	7.62e-05	0.0015	0.0024	0.0004	0.0016	0.0131	0.0010	0.0010	0.0006	0.0014	0.0153	0.0009	0.0008	0.0125	0.0115	4.816e-05	0	0.0018	0	0.0004	0.0012	0	0.0005	0.0005	0.0153	0.297	0.14645	T	0.529	0.10138	T	0.032	0.20242	B	0.021	0.19346	B	0.000058	0.53742	N	0.166846	0.766452	0.81001	D	1.99	0.53851	M	3.71	0.04046	T	-1.77	0.41809	N	0.221	0.24758	-0.9991	0.30171	T	0.008	0.02884	T	10	0.0037677288	0.00070	T	.	.	.	0.056	0.15993	.	.	0.297458270211	0.29361	0.18542726824016895	0.18460	0.503665280906	0.48679	0.419512480497	0.27769	T	0.008796	0.08052	T	-0.617147	0.00114	T	-0.648235	0.09078	T	0.0201042136741827	0.00711	T	.	.	.	0.08465493	0.19604	0.15540867	0.36431	0.08332834	0.19237	0.2030327	0.44359	-5.94	0.45775	T	.	.	0.096	0.15520	B	.	.	2.323710	0.29762	18.22	0.97458243839235814	0.34069	0.84653	0.43738	D	AEFDBCI	0.395459	0.47231	N	-0.167606395630363	0.34489	1.969138	-0.031778582099664	0.38288	2.25364	0.999999996264906	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.42	4.54	0.55220	2.623000	0.46101	.	.	0.544000	0.25403	0.401000	0.26178	0.999000	0.35428	0.970000	0.54328	0.0:0.8466:0.1534:0.0	13.955	0.63653	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000546	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	697.83	34	chr6	31791962	.	C	G	697.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.001;DP=227;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.337;SOR=0.512	GT:AD:DP:GQ:PL	0/1:28,27:55:99:708,0,827	5	0	1	0
chr6	31996544	31996544	T	C	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3620C:p.V1207A,C4B_2:NM_001242823:exon28:c.T3620C:p.V1207A,C4A:NM_001252204:exon28:c.T3620C:p.V1207A,LOC110384692:NM_001352000:exon28:c.T3620C:p.V1207A,C4A:NM_007293:exon28:c.T3620C:p.V1207A	.	2	1450	69	1	0	71	0.0238977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	.	0.0083	0.0048	0.0319	0.0050	0.0011	0.0069	0.0033	0.0043	0.0078912	1220	154602	rs28357075	0.0025	0.0039	0.0027	0.0024	0.0191	0.0025	0.0025	0.0180	0.0176	0.0008	0.0191	0.0001	0.0007	0.0009	0.0012	0.0023	0.0014	0.0019	0.0020	0.0044	0.0022	0.0018	0.0061	0.0018	0.0017	0.0051	0.0047	0.0010	0	0.0061	0	0.0008	0.0010	0	0.0022	0.0005	0.0006	0.535	0.07093	T	0.115	0.38305	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.32	0.03561	N	1.54	0.30133	T	1.14	0.01166	N	0.023	0.01135	-0.9411	0.42442	T	0.007	0.02439	T	9	0.0054062605	0.00119	T	.	.	.	0.030	0.07022	.	.	.	.	0.06825879012703862	0.06763	.	.	.	.	.	0.002407	0.01797	T	-0.367044	0.03746	T	-0.76501	0.02935	T	0.000179680987386715	0.00001	T	0.0366963	0.00254	T	0.07769611	0.17650	0.060217388	0.11430	0.07769611	0.17650	0.060217388	0.11430	-0.219	0.00436	T	.	.	0.053	0.00291	B	.;.	.;.	-0.419880	0.02138	0.205	0.28795004747559966	0.01496	0.00543	0.02498	N	AEFDI	0.134378	0.25437	N	-2.06399544725606	0.00153	0.006570574	-1.98774875783834	0.00325	0.01435129	6.12064341257709E-4	0.07460	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	0.944	0.18661	-0.039000	0.12076	.	.	-2.930000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5083:0.1961:0.1121:0.1835	1.09	0.01558	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007659	0.020408	0.002725	0.000000	0.000000	0.000000	0.009202	0.011364	0.25	175.01	38	chr6	31996544	.	T	C	175.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.39;DP=346;ExcessHet=1.383;FS=57.608;MLEAC=3;MLEAF=0.25;MQ=58.11;MQRankSum=-8.207;QD=0.74;ReadPosRankSum=-0.554;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,9:127:23:0|1:31996539_G_C:23,0,4904:31996539	3	0	3	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R,C4B_2:NM_001242823:exon28:c.T3629G:p.L1210R,C4A:NM_001252204:exon28:c.T3629G:p.L1210R,LOC110384692:NM_001352000:exon28:c.T3629G:p.L1210R,C4A:NM_007293:exon28:c.T3629G:p.L1210R	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.058470	0.061224	0.043597	0.026596	0.100000	0.051724	0.100610	0.056818	0.25	456.03	38	chr6	31996553	.	T	G	456.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.494;DP=361;ExcessHet=1.383;FS=61.519;MLEAC=3;MLEAF=0.25;MQ=57.98;MQRankSum=-8.669;QD=1.85;ReadPosRankSum=-1.019;SOR=5.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,12:130:99:0|1:31996539_G_C:149,0,4919:31996539	3	0	3	0
chr6	32180027	32180027	G	A	exonic	RNF5	.	nonsynonymous SNV	RNF5:NM_006913:exon5:c.G346A:p.D116N	.	415	1104	2	1	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0321690412038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.537	0.09863	T	0.086	0.24919	B	0.032	0.22131	B	0.003946	0.34294	N	0.206229	0.999999	0.58761	D	1.325	0.33218	L	-3.32	0.93882	D	-0.8	0.22078	N	0.446	0.48411	-0.2747	0.75684	T	0.456	0.78808	T	10	0.226262	0.39477	T	0.032169	0.54066	D	0.277	0.59375	0.253	0.19223	0.92380155035	0.92302	0.6282534860754048	0.62758	0.857156577132	0.68791	0.69210588932	0.66009	T	0.077599	0.35692	T	0.0692637	0.60760	T	-0.138284	0.60266	T	0.576042354106903	0.35466	D	0.90401	0.66351	D	0.13741475	0.31819	0.15159078	0.35701	0.13741475	0.31818	0.15159078	0.35701	-5.519	0.42045	T	.	.	0.151	0.33504	B	.	.	3.667438	0.52131	23.2	0.99697323036066643	0.80385	0.98295	0.81357	D	AEFBCI	0.964113	0.98617	D	-0.0114730932557981	0.41335	2.470658	0.215727220761147	0.50719	3.261086	0.999999999999811	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.702456	0.68683	0	0.662433	0.64102	0	.	.	5.36	5.36	0.76624	5.687000	0.67883	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.952	0.86120	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	.	.	.	.	.	.	.	.	0.08333	1284.83	40	chr6	32180027	.	G	A	1284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.138;DP=295;ExcessHet=0;FS=9.865;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.119;SOR=1.634	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1295,0,1465	5	0	1	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	17177.1	151	chr6	32530184	.	T	*	17177.1	.	AC=5;AF=0.417;AN=12;DP=695;ExcessHet=0;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=56.32;MQRankSum=-11.56;QD=25.41;ReadPosRankSum=-3.157;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,21:136:99:0|1:32530184_T_*:515,0,4745:32530184	2	1	3	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	19791.2	150	chr6	32530185	.	T	*	19791.2	.	AC=4;AF=0.333;AN=12;DP=680;ExcessHet=0;FS=3.529;MLEAC=4;MLEAF=0.333;MQ=56.38;MQRankSum=-11.52;QD=29.5;ReadPosRankSum=-3.174;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,20:135:99:0|1:32530184_T_*:494,0,4748:32530184	3	1	2	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2307.01	124	chr6	32584171	.	G	*	2307.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.93;DP=976;ExcessHet=1.383;FS=4.31;MLEAC=2;MLEAF=0.167;MQ=46.96;MQRankSum=4.11;QD=3.37;ReadPosRankSum=1.97;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,128:320:99:0|1:32584162_G_T:4757,0,7625:32584162	4	0	2	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10658.6	301	chr6	32584370	.	G	*	10658.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.44;DP=1462;ExcessHet=0.7136;FS=8.32;MLEAC=4;MLEAF=0.333;MQ=55;MQRankSum=-13.72;QD=7.58;ReadPosRankSum=-0.126;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,86:411:99:0|1:32584366_C_T:2885,0,11615:32584366	2	0	4	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1141.06	247	chr6	32641444	.	G	*	1141.06	.	AC=5;AF=0.417;AN=12;DP=896;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=56.04;QD=1.86;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,67:223:99:0|1:32641430_C_T:2344,0,6349:32641430	2	1	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1183.06	247	chr6	32641445	.	A	*	1183.06	.	AC=5;AF=0.417;AN=12;DP=897;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=55.97;QD=1.93;SOR=1.335	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,67:223:99:0|1:32641430_C_T:2344,0,6349:32641430	2	1	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1300.06	247	chr6	32641462	.	G	*	1300.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=19.881;MLEAC=5;MLEAF=0.417;MQ=57.02;QD=2.04;SOR=1.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,65:233:99:0|1:32641430_C_T:2221,0,6772:32641430	2	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1258.06	247	chr6	32641464	.	T	*	1258.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=20.275;MLEAC=5;MLEAF=0.417;MQ=57.32;QD=1.98;SOR=1.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,65:233:99:0|1:32641430_C_T:2221,0,6772:32641430	2	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2032.06	247	chr6	32641501	.	G	*	2032.06	.	AC=5;AF=0.417;AN=12;DP=938;ExcessHet=0.095;FS=5.105;MLEAC=5;MLEAF=0.417;MQ=57.94;QD=3.1;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,45:234:99:0|1:32641476_G_A:1321,0,7801:32641476	2	1	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2341.06	247	chr6	32641522	.	A	*	2341.06	.	AC=5;AF=0.417;AN=12;DP=946;ExcessHet=0.095;FS=8.264;MLEAC=5;MLEAF=0.417;MQ=58.15;QD=3.58;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,44:219:99:0|1:32641476_G_A:1257,0,7210:32641476	2	1	3	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	20659.0	229	chr6	32664917	.	C	A	20659.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=7.76;DP=1471;ExcessHet=0.095;FS=1.748;MLEAC=2;MLEAF=0.167;MQ=59.42;MQRankSum=-1.372;QD=20.12;ReadPosRankSum=-0.716;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,26:370:56:0|1:32664910_A_G:56,0,14366:32664910	4	0	2	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	923.06	229	chr6	32664926	.	G	A	923.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=8.52;DP=1419;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.76;MQRankSum=-7.886;QD=1.92;ReadPosRankSum=-2.575;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,27:359:99:0|1:32664910_A_G:134,0,13808:32664910	4	0	2	0
chr6	35118495	35118495	C	T	exonic	TCP11	.	nonsynonymous SNV	TCP11:NM_001366329:exon8:c.G863A:p.R288Q,TCP11:NM_001261818:exon9:c.G1187A:p.R396Q,TCP11:NM_001261819:exon9:c.G1172A:p.R391Q,TCP11:NM_001366324:exon9:c.G1100A:p.R367Q,TCP11:NM_001366326:exon9:c.G950A:p.R317Q,TCP11:NM_001366327:exon9:c.G863A:p.R288Q,TCP11:NM_001366328:exon9:c.G863A:p.R288Q,TCP11:NM_001261817:exon10:c.G1271A:p.R424Q,TCP11:NM_001366323:exon10:c.G1097A:p.R366Q,TCP11:NM_001370687:exon10:c.G1286A:p.R429Q,TCP11:NM_018679:exon10:c.G1100A:p.R367Q,TCP11:NM_001261820:exon11:c.G1097A:p.R366Q,TCP11:NM_001261821:exon11:c.G1097A:p.R366Q,TCP11:NM_001366331:exon11:c.G683A:p.R228Q	.	434	1049	36	3	0	42	0.0196262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	.	0.0086	0.00998403	0.0080	0.0141	0.0037	0.0005	0.0058	0.0061	0.0024	0.0201	0.0069598	1076	154602	rs2234051	0.0059	0.0059	0.0055	0.0063	0.0183	0.0058	0.0057	0.0175	0.0172	0.0115	0.0037	0.0129	0.0002	0.0049	0.0156	0.0048	0.0074	0.0183	0.0075	0.0075	0.0075	0.0075	0.0179	0.0071	0.0070	0.0149	0.0138	0.0127	0	0.0060	0.0124	0.0008	0.0054	0.0136	0.0045	0.0104	0.0179	0.002	0.72154	D	0.041	0.55759	D	1.0	0.90584	D	0.992	0.82059	D	0.000001	0.84330	D	0.000000	0.999998	0.58761	D	3.485	0.92608	M	2.54	0.13916	T	-3.49	0.68056	D	0.841	0.87590	-0.8588	0.51348	T	0.117	0.41142	T	10	0.010633409	0.00236	T	.	.	.	0.337	0.65913	.	.	0.604058420995	0.60089	0.7240633238435299	0.72350	0.63514956105	0.57344	0.414871960878	0.27130	T	0.147054	0.48496	T	-0.398731	0.02360	T	-0.33059	0.41403	T	0.0282452344353273	0.01724	T	0.80292	0.45479	T	0.60848224	0.73146	0.5169381	0.72090	0.60848224	0.73148	0.5169381	0.72090	-9.464	0.72206	D	.	.	0.272	0.53793	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.140765	0.86064	28.8	0.99943781286954192	0.99868	0.98958	0.89172	D	AEFBI	0.805068	0.72976	D	0.760793966134483	0.83606	8.061665	0.655872697710517	0.79050	7.000918	0.999999795410096	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.42	5.42	0.78666	6.396000	0.73161	3.297000	0.37352	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	18.832	0.92114	376	0.83959	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012601	0.010101	0.013587	0.011696	0.000000	0.008621	0.015337	0.022727	0.08333	1313.83	34	chr6	35118495	.	C	T	1313.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=249;ExcessHet=0;FS=3.186;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=0.438;SOR=0.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,35:76:99:0|1:35118495_C_T:1324,0,1606:35118495	5	0	1	0
chr6	35118498	35118498	T	C	exonic	TCP11	.	nonsynonymous SNV	TCP11:NM_001366329:exon8:c.A860G:p.Q287R,TCP11:NM_001261818:exon9:c.A1184G:p.Q395R,TCP11:NM_001261819:exon9:c.A1169G:p.Q390R,TCP11:NM_001366324:exon9:c.A1097G:p.Q366R,TCP11:NM_001366326:exon9:c.A947G:p.Q316R,TCP11:NM_001366327:exon9:c.A860G:p.Q287R,TCP11:NM_001366328:exon9:c.A860G:p.Q287R,TCP11:NM_001261817:exon10:c.A1268G:p.Q423R,TCP11:NM_001366323:exon10:c.A1094G:p.Q365R,TCP11:NM_001370687:exon10:c.A1283G:p.Q428R,TCP11:NM_018679:exon10:c.A1097G:p.Q366R,TCP11:NM_001261820:exon11:c.A1094G:p.Q365R,TCP11:NM_001261821:exon11:c.A1094G:p.Q365R,TCP11:NM_001366331:exon11:c.A680G:p.Q227R	.	433	1050	36	3	0	42	0.0196078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	.	0.0085	0.00998403	0.0081	0.0142	0.0038	0.0005	0.0059	0.0062	0.0024	0.0202	0.0069469	1074	154602	rs115171214	0.0059	0.0059	0.0054	0.0063	0.0183	0.0058	0.0057	0.0175	0.0172	0.0114	0.0037	0.0129	0.0002	0.0049	0.0156	0.0048	0.0073	0.0183	0.0074	0.0074	0.0074	0.0074	0.0180	0.0071	0.0069	0.0149	0.0138	0.0126	0	0.0057	0.0124	0.0008	0.0054	0.0136	0.0045	0.0099	0.0180	0.041	0.52492	D	0.009	0.66756	D	0.589	0.90584	P	0.439	0.78936	B	0.000030	0.55875	D	0.072709	0.955508	0.37928	D	3.005	0.85968	M	2.75	0.11622	T	-2.29	0.50992	N	0.275	0.37093	-1.0054	0.28337	T	0.053	0.22655	T	10	0.005749196	0.00128	T	.	.	.	0.234	0.53644	.	.	0.482646159919	0.47895	0.1947391040339133	0.19391	0.378931172671	0.39296	0.382598400116	0.22624	T	0.001682	0.01111	T	-0.50118	0.00563	T	-0.47775	0.24685	T	0.0563423898512908	0.06580	T	0.868913	0.57669	D	0.24921314	0.47915	0.3239677	0.58324	0.24921314	0.47914	0.3239677	0.58323	-5.926	0.49836	T	.	.	0.118	0.24833	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.273914	0.65055	24.8	0.99787444689369775	0.87396	0.95996	0.67064	D	AEFBI	0.759736	0.69798	D	0.423029136917692	0.62691	4.489211	0.369030580838388	0.59662	4.145987	0.877821284110971	0.25553	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.42	5.42	0.78666	4.603000	0.60812	6.130000	0.53904	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	15.141	0.72291	376	0.83959	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.015152	0.013587	0.011696	0.000000	0.008621	0.018405	0.022727	0.08333	1316.83	34	chr6	35118498	.	T	C	1316.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.163;DP=246;ExcessHet=0;FS=2.004;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=0.618;SOR=0.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,35:75:99:0|1:35118495_C_T:1327,0,1574:35118495	5	0	1	0
chr6	35795774	35795774	C	T	exonic	CLPS	.	nonsynonymous SNV	CLPS:NM_001832:exon2:c.G164A:p.R55H,CLPS:NM_001252597:exon3:c.G122A:p.R41H	.	395	1115	12	0	0	12	0.00535236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0246068335606	0.0030	0.00159744	0.0035	0.0004	0.0041	0	0.0003	0.0050	0.0056	0.0017	0.0031824	492	154602	rs142530335	0.0022	0.0026	0.0021	0.0023	0.0136	0.0022	0.0021	0.0111	0.0103	0.0008	0.0034	0.0411	2.519e-05	0.0003	0.0136	0.0013	0.0046	0.0020	0.0027	0.0031	0.0026	0.0029	0.0050	0.0025	0.0024	0.0041	0.0037	0.0003	0	0.0050	0.0454	0	0.0006	0.0068	0.0021	0.0052	0.0019	0.119	0.28026	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000013	0.62929	D	0.000000	0.999411	0.46970	D	1.895	0.50365	L	1.39	0.33842	T	-2.29	0.50992	N	0.755	0.75374	-0.8915	0.48802	T	0.171	0.51229	T	10	0.0194228	0.00434	T	0.024607	0.47597	T	0.244	0.55061	.	.	0.616015083648	0.61291	0.7446778601123446	0.74413	1.28444644439	0.82614	0.35718485713	0.18975	T	0.05958	0.62971	T	-0.373445	0.03423	T	-0.31194	0.43451	T	0.0324543005068547	0.02380	T	0.735226	0.35154	T	0.13768709	0.31871	0.115455404	0.27872	0.13768709	0.31871	0.115455404	0.27871	-5.186	0.38799	T	.	.	0.426	0.60978	A	.;.	.;.	4.761511	0.76982	26.6	0.99932089132191992	0.99439	0.95114	0.63489	D	AEFDGBI	0.758000	0.69678	D	0.593746397708769	0.72783	5.860412	0.514150258135482	0.68939	5.290085	0.996692233432076	0.34934	0.569682	0.32691	0	0.59043	0.45803	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	3.450000	0.52720	7.555000	0.60355	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.242000	0.23054	0.0:1.0:0.0:0.0	15.513	0.75532	485	0.77085	Colipase, N-terminal;Colipase, 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	0.012588	0.005051	0.024457	0.002924	0.000000	0.008621	0.009146	0.011364	0.08333	1076.83	35	chr6	35795774	.	C	T	1076.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.481;DP=317;ExcessHet=0;FS=0.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.099;SOR=0.83	GT:AD:DP:GQ:PL	0/1:86,47:133:99:1087,0,2401	5	0	1	0
chr6	42105511	42105511	C	T	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon4:c.G2401A:p.V801M	.	411	1103	8	0	0	8	0.00361337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.00119808	0.0047	0	0.0107	0	0	0	0.0063	0.0084	0.0004916	76	154602	rs559521854	0.0004	0.0004	0.0002	0.0007	0.0071	0.0004	0.0004	0.0066	0.0064	0	5.615e-05	0	2.805e-05	0	0.0009	2.601e-05	0.0003	0.0071	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0.0002	0	0	2.94e-05	0.0009	0.0054	0.008	0.58626	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.73	0.50721	T	-1.36	0.33798	N	0.062	0.03392	-1.0430	0.16413	T	0.073	0.29578	T	7	0.003575921	0.00065	T	.	.	.	0.090	0.26093	0.172	0.07774	0.0297737177859	0.01360	0.08374329932447842	0.08308	.	.	.	.	.	0.007833	0.07211	T	-0.534194	0.00363	T	-0.535263	0.18765	T	0.0391456030627107	0.03536	T	0.483452	0.14697	T	0.050040357	0.08978	0.07009644	0.14850	0.050040357	0.08978	0.07009644	0.14850	-4.917	0.35925	T	.	.	0.104	0.18828	B	.	.	1.332346	0.17377	13.13	0.99695535115203382	0.80248	0.15704	0.19041	N	AEFDBHCI	0.106924	0.21319	N	-0.433745422141402	0.24294	1.310773	-0.545429437232661	0.20926	1.129727	0.999999999272299	0.74766	0.631981	0.41245	0	0.563428	0.19063	0	0.779548	0.98927	0	0.562822	0.20929	0	.	.	3.38	3.38	0.37806	-0.013000	0.12615	-0.581000	0.08376	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:1.0:0.0:0.0	10.557	0.44312	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001259	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.025000	0.08333	560.83	38	chr6	42105511	.	C	T	560.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=212;ExcessHet=0;FS=3.009;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-0.215;SOR=0.479	GT:AD:DP:GQ:PL	0/1:16,19:35:99:571,0,425	5	0	1	0
chr6	43198816	43198816	C	T	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon12:c.C3011T:p.A1004V	.	429	1089	4	0	0	4	0.00183318	.	.	.	3661624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0327060457659	0.0002	0.000199681	4.179e-05	0.0001	0	0	0	6.055e-05	0	0	3.88e-05	6	154602	rs201783235	1.984e-05	1.984e-05	1.362e-05	2.613e-05	0.0003	1.392e-05	1.204e-05	6.105e-05	2.526e-05	0	4.472e-05	0	0	0	0.0003	2.068e-05	3.312e-05	0	5.251e-05	5.249e-05	5.139e-05	5.368e-05	0.0001	2.555e-05	1.828e-05	2.846e-05	1.858e-05	2.405e-05	0	0.0001	0	0	0	0	7.35e-05	0	0	0.011	0.55530	D	0.16	0.31427	T	0.128	0.27003	B	0.146	0.33945	B	0.622057	0.05761	N	1.183310	0.633746	0.30676	N	1.995	0.54099	M	-0.71	0.72889	T	-0.43	0.14390	N	0.423	0.46274	-0.9751	0.36104	T	0.146	0.47038	T	10	0.09971413	0.18113	T	0.032706	0.54460	D	0.153	0.40148	.	.	0.44480088601	0.44098	0.11198871006527387	0.11127	0.806418835641	0.66490	0.495119601488	0.38149	T	0.08672	0.37786	T	-0.213777	0.18851	T	-0.362706	0.37738	T	0.214707002043724	0.21196	T	0.861714	0.55578	D	0.10985902	0.25971	0.10022088	0.23956	0.10985902	0.25971	0.10022088	0.23956	-4.254	0.27527	T	.	.	0.096	0.18247	B	.;.	.;.	2.997949	0.40049	21.1	0.99935914577212781	0.99621	0.63053	0.31970	D	AEFDBI	0.051607	0.09133	N	-0.0186700777811039	0.41011	2.446	0.12734934216388	0.45954	2.849457	0.999477697294329	0.39898	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.98	4.98	0.65679	1.818000	0.38650	5.356000	0.48387	0.530000	0.24713	0.954000	0.33273	0.594000	0.25685	0.924000	0.46004	0.0:0.902:0.0:0.098	9.498	0.38165	351	0.85421	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1117.83	36	chr6	43198816	.	C	T	1117.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.301;DP=243;ExcessHet=0;FS=7.22;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.372;SOR=0.208	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1128,0,650	5	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	0.1667	1999.06	33	chr6	52273751	.	C	T	1999.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.56;DP=293;ExcessHet=0.4139;FS=0.65;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=2.29;SOR=0.802	GT:AD:DP:GQ:PL	0/1:43,36:79:99:968,0,1069	4	0	2	0
chr6	52677136	52677136	G	A	exonic	TMEM14A	.	nonsynonymous SNV	TMEM14A:NM_014051:exon2:c.G34A:p.V12M	.	.	.	.	.	.	.	.	.	.	.	2238733	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.0299868119841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1441632488	7.525e-06	7.524e-06	4.084e-06	1.1e-05	4.472e-05	4.04e-06	2.95e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	7.194e-06	1.656e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.989	0.62824	D	0.824	0.59271	P	0.017329	0.27751	N	0.347566	0.516196	0.31859	D	.	.	.	0.53	0.55090	T	-2.18	0.49187	N	0.601	0.61933	-0.8918	0.48775	T	0.137	0.45280	T	9	0.7447728	0.75209	D	0.029987	0.52391	D	0.243	0.54921	0.47	0.54376	0.503621591648	0.50000	0.6137690431717249	0.61308	0.263391581007	0.28895	0.547657251358	0.45527	T	0.24275	0.61154	T	-0.0179859	0.49139	T	-0.263612	0.48462	T	0.968863010406494	0.68389	D	0.910809	0.68393	D	0.25717863	0.48761	0.42845914	0.66559	0.25717863	0.48761	0.42845914	0.66559	-10.884	0.79018	D	.	.	0.189	0.40698	B	.	.	3.420655	0.47492	22.5	0.99877389397742233	0.95410	0.34217	0.25015	N	AEFBI	0.334892	0.43351	N	0.245636459226012	0.53423	3.511245	0.205991166882093	0.50179	3.212738	0.159052796218469	0.17564	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.08	2.16	0.26663	0.060000	0.14220	1.725000	0.28287	0.676000	0.76740	0.819000	0.29975	0.960000	0.29291	0.984000	0.60418	0.0683:0.1186:0.4472:0.3659	5.109	0.14134	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2464.06	45	chr6	52677136	.	G	A	2464.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.88;DP=428;ExcessHet=0.4139;FS=2.778;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=1.36;SOR=0.876	GT:AD:DP:GQ:PL	0/1:66,46:112:99:1024,0,1555	4	0	2	0
chr6	57053800	57053800	T	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.T1220G:p.I407R,KIAA1586:NM_001286275:exon4:c.T1100G:p.I367R,KIAA1586:NM_001286276:exon4:c.T1100G:p.I367R,KIAA1586:NM_020931:exon4:c.T1301G:p.I434R	.	474	1046	2	0	0	2	0.00095511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00574384298222	0.0024	0.000199681	0.0018	0.0008	0.0003	0	0.0003	0.0031	0.0012	0.0001	0.0001921	5	26028	rs202156522	0.0022	0.0021	0.0022	0.0021	0.0026	0.0021	0.0021	0.0026	0.0025	0.0002	0.0003	0.0003	0	0.0004	0.0019	0.0026	0.0022	4.033e-05	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0018	0.0016	0.0004	0	0.0003	0.0017	0	0.0002	0	0.0020	0.0009	0	0.001	0.78490	D	0.0	0.92824	D	0.95	0.53885	P	0.571	0.49890	P	.	.	.	.	0.938189	0.37217	D	1.59	0.40313	L	1.98	0.21865	T	-3.27	0.65512	D	0.557	0.58202	-1.0496	0.14509	T	0.018	0.07329	T	9	0.00900808	0.00204	T	0.005744	0.14892	T	0.162	0.41843	.	.	0.225215365344	0.22153	0.25390325512276285	0.25304	0.198000684834	0.22175	0.684002637863	0.64843	T	0.246186	0.61561	T	-0.378283	0.03194	T	-0.319518	0.42628	T	0.0234420556395789	0.01076	T	0.723028	0.33655	T	0.5359384	0.69168	0.63358927	0.78616	0.6210959	0.73823	0.5731603	0.75278	-9.909	0.73365	D	.	.	0.267	0.59661	B	.;.	.;.	3.495726	0.48888	22.7	0.98628936649213184	0.43879	0.71395	0.34994	D	AEBI	0.107344	0.21389	N	0.106491538475619	0.46764	2.911944	0.155753686333257	0.47448	2.974852	0.558440847750074	0.21393	0.651	0.46895	0	0.708844	0.79440	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	3.82	3.82	0.43153	1.123000	0.30922	1.140000	0.24397	0.587000	0.30956	0.545000	0.27306	0.694000	0.26193	0.998000	0.85391	0.0:0.0:0.0:1.0	9.154	0.36144	282	0.88846	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.1667	676.07	13	chr6	57053800	.	T	G	676.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.48;DP=133;ExcessHet=0.4139;FS=5.351;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.609;SOR=1.773	GT:AD:DP:GQ:PL	0/1:11,9:20:99:304,0,314	4	0	2	0
chr6	65344041	65344041	T	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_198283:exon9:c.A1596C:p.K532N,EYS:NM_001142800:exon10:c.A1596C:p.K532N,EYS:NM_001142801:exon10:c.A1596C:p.K532N,EYS:NM_001292009:exon10:c.A1596C:p.K532N	Retinitis pigmentosa 25	10	1490	19	3	0	25	0.00831947	.	.	.	710583	not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_25	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.0083	0.00259585	0.0068	0.0011	0.0019	0	0.0031	0.0109	0.0088	0.0018	0.007018	1085	154602	rs61753611	0.0097	0.0098	0.0100	0.0095	0.0115	0.0096	0.0095	0.0113	0.0113	0.0010	0.0028	0.0140	2.525e-05	0.0051	0.0053	0.0115	0.0084	0.0012	0.0071	0.0071	0.0074	0.0067	0.0112	0.0067	0.0066	0.0105	0.0102	0.0019	0.0330	0.0050	0.0139	0.0002	0.0047	0.0204	0.0112	0.0090	0.0017	0.239	0.17761	T	0.161	0.31326	T	0.246	0.31102	B	0.035	0.24832	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	-1.5	0.81318	D	0.6	0.14390	N	0.243	0.27435	-1.0342	0.19109	T	0.098	0.36625	T	9	0.0044945776	0.00092	T	.	.	.	0.047	0.12962	0.449	0.50957	0.110078149338	0.10416	0.23494252369575014	0.23409	0.0100119887689	0.00916	0.215253651142	0.01054	T	0.017918	0.14537	T	-0.549341	0.00294	T	-0.55019	0.17309	T	0.00412558134519826	0.00044	T	0.456654	0.13107	T	0.044149835	0.07007	0.05097871	0.08110	0.042527467	0.06467	0.05097871	0.08110	-3.118	0.12726	T	0.153488012199202	0.18260	0.234	0.50871	B	.;.;.;.	.;.;.;.	0.098160	0.05004	1.558	0.55313910472509453	0.05316	0.02315	0.06641	N	AEFI	0.047262	0.07940	N	-1.16824113892233	0.05486	0.2502346	-1.26494320617993	0.04913	0.232905	7.59859653809289E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.1	-3.87	0.03939	-0.006000	0.12769	-2.928000	0.03221	0.602000	0.45918	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.1407:0.2333:0.0:0.626	4.660	0.12023	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	1	0	0	0	0.005045	0.000000	0.006793	0.000000	0.000000	0.000000	0.009202	0.007576	0.1667	745.06	33	chr6	65344041	.	T	G	745.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.277;DP=214;ExcessHet=0.4139;FS=0.853;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.729;SOR=0.813	GT:AD:DP:GQ:PL	0/1:27,17:44:99:315,0,688	4	0	2	0
chr6	72179813	72179813	C	T	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_014989:exon5:c.C710T:p.A237V	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00427153001029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.883	0.06802	T	0.278	0.21812	T	0.001	0.07471	B	0.002	0.06944	B	0.196545	0.16709	N	0.567650	1	0.08975	N	0.55	0.14455	N	2.5	0.14408	T	0.34	0.04306	N	0.072	0.05670	-0.9186	0.45743	T	0.006	0.01944	T	10	0.045544058	0.03638	T	0.004272	0.10341	T	0.098	0.28162	0.208	0.12497	0.275641507738	0.27180	0.14208153262139106	0.14131	0.590832157368	0.54534	0.294756650925	0.09622	T	0.090619	0.38623	T	-0.367403	0.03728	T	-0.765526	0.02918	T	0.0843945846523954	0.10539	T	0.858314	0.54891	D	0.041004363	0.05958	0.03576335	0.02890	0.041004363	0.05958	0.03576335	0.02889	-5.1	0.37908	T	.	.	0.068	0.02733	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.425140	0.18423	13.73	0.99604324593518423	0.74397	0.15967	0.19167	N	AEFBI	0.120250	0.23433	N	-0.92941261692333	0.10159	0.484132	-0.916498879231875	0.11704	0.5979567	1.40056249126253E-5	0.02871	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.530356	0.10902	0	.	.	5.65	1.16	0.19936	1.284000	0.32855	0.808000	0.21724	0.599000	0.40250	0.188000	0.24163	0.001000	0.17328	0.021000	0.11733	0.1614:0.3961:0.1603:0.2822	1.234	0.01832	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	0	0	.	.	.	.	.	.	.	.	0.1667	3000.06	40	chr6	72179813	.	C	T	3000.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.586;DP=385;ExcessHet=0.4139;FS=1.688;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.249;SOR=0.841	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1508,0,1725	4	0	2	0
chr6	83137607	83137607	C	G	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon21:c.C3538G:p.P1180A,DOP1A:NM_015018:exon21:c.C3565G:p.P1189A	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00422702838858	0.0025	0.000599042	0.0021	0.0010	0.0010	0	0.0002	0.0032	0	0.0007	0.0022121	342	154602	rs41271565	0.0030	0.0030	0.0031	0.0030	0.0037	0.0030	0.0029	0.0036	0.0036	0.0007	0.0009	7.656e-05	0	0.0005	0.0035	0.0037	0.0027	0.0009	0.0021	0.0021	0.0021	0.0020	0.0037	0.0019	0.0018	0.0033	0.0032	0.0008	0	0.0012	0	0	0.0004	0	0.0037	0.0024	0.0010	0.7	0.04175	T	0.686	0.05995	T	0.001	0.07471	B	0.001	0.04355	B	0.445347	0.12575	N	0.766287	0.999999	0.08975	N	0	0.06538	N	2.02	0.21119	T	-0.52	0.16187	N	0.109	0.09490	-1.0087	0.27323	T	0.010	0.03856	T	10	0.004528582	0.00093	T	0.004227	0.10216	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.14800445454405992	0.14722	0.247262330812	0.27269	0.203201383352	0.00556	T	0.01737	0.14185	T	-0.617599	0.00114	T	-0.653376	0.08720	T	0.00792398646503796	0.00093	T	0.616838	0.23625	T	0.04543361	0.07435	0.03600634	0.02962	0.04543361	0.07434	0.03600634	0.02962	-2.997	0.10149	T	.	.	0.062	0.01290	B	.;.;.	.;.;.	-0.250413	0.02843	0.398	0.10614543619274894	0.00138	0.37718	0.25825	N	AEFGBI	0.073573	0.14721	N	-0.957212187953559	0.09531	0.4515175	-0.879618821710344	0.12577	0.6477804	0.646595562477157	0.22113	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.8	4.91	0.63897	0.350000	0.19818	-0.107000	0.11873	0.549000	0.26987	0.022000	0.19841	0.000000	0.08366	0.026000	0.12556	0.3329:0.5927:0.0:0.0744	8.165	0.30380	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	0.001511	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	4256.06	35	chr6	83137607	.	C	G	4256.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.39;DP=474;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.38;SOR=0.689	GT:AD:DP:GQ:PL	0/1:99,89:188:99:2491,0,2779	4	0	2	0
chr6	99400939	99400939	T	C	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322415:exon10:c.A1965G:p.I655M,PNISR:NM_001322408:exon11:c.A2019G:p.I673M,PNISR:NM_001322413:exon11:c.A2019G:p.I673M,PNISR:NM_001322414:exon11:c.A1965G:p.I655M,PNISR:NM_015491:exon11:c.A2019G:p.I673M,PNISR:NM_001322405:exon12:c.A2019G:p.I673M,PNISR:NM_001322410:exon12:c.A2019G:p.I673M,PNISR:NM_001322412:exon12:c.A2019G:p.I673M,PNISR:NM_032870:exon12:c.A2019G:p.I673M,PNISR:NM_001322406:exon13:c.A2019G:p.I673M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00089583667361	.	.	8.623e-06	0	0	0	0	0	0	6.103e-05	6.5e-06	1	154602	rs745756973	2.806e-06	4.106e-06	1.401e-06	4.217e-06	2.342e-05	6.6e-07	4.4e-07	3.89e-06	1.46e-06	0	0	0	0	0	0	1.853e-06	0	2.342e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.222	0.25748	T	0.0	0.02946	B	0.001	0.04355	B	0.024485	0.26253	N	0.406210	0.943383	0.26723	N	0.345	0.11182	N	.	.	.	0.15	0.05310	N	0.174	0.19190	-1.0761	0.08124	T	0.026	0.11264	T	9	0.06817421	0.09605	T	8.96E-4	0.00822	T	0.067	0.19503	0.202	0.11659	0.128874641272	0.12493	0.020055680148224803	0.01958	0.683117949677	0.60146	0.423679202795	0.28343	T	0.005302	0.04751	T	-0.274855	0.11221	T	-0.531956	0.19092	T	0.598149597644806	0.36327	D	0.716728	0.32905	T	0.08117546	0.18637	0.06394933	0.12744	0.08117546	0.18637	0.06394933	0.12743	-4.944	0.36226	T	.	.	0.069	0.03197	B	.;.;.	.;.;.	2.983759	0.39806	21.0	0.89416897640252058	0.18778	0.91832	0.54359	D	AEFBI	0.387719	0.46759	N	-0.206825806377217	0.32852	1.857437	0.0402837961785656	0.41604	2.502335	0.199872384628294	0.18109	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	1.207000	0.31938	6.048000	0.53069	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0712:0.0:0.9288	10.637	0.44765	560	0.71333	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2676.06	33	chr6	99400939	.	T	C	2676.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.359;DP=355;ExcessHet=0.4139;FS=1.68;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.161;SOR=0.824	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1485,0,1785	4	0	2	0
chr6	106587707	106587707	C	G	exonic	RTN4IP1	.	nonsynonymous SNV	RTN4IP1:NM_001318746:exon7:c.G662C:p.G221A,RTN4IP1:NM_032730:exon7:c.G962C:p.G321A	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, Autosomal recessive	432	1078	10	2	0	14	0.00645161	.	.	YES	859454	Retinal_dystrophy|not_provided|Optic_atrophy	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|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.0111272992217	7.7e-05	0.000199681	0.0007	0	0.0002	0	0	0.0002	0.0011	0.0043	0.0005757	89	154602	rs145695118	0.0004	0.0004	0.0002	0.0006	0.0059	0.0004	0.0003	0.0045	0.0043	0.0001	6.709e-05	0	0	0	0.0059	6.926e-05	0.0004	0.0049	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	7.216e-05	0	0.0001	0	0	0	0	0.0001	0	0.0027	0.56	0.06381	T	0.794	0.04142	T	0.585	0.38912	P	0.179	0.35808	B	0.000001	0.84330	D	0.095627	0.999991	0.81001	D	0.14	0.08730	N	1.06	0.39781	T	-0.27	0.11366	N	0.294	0.33250	-1.0738	0.08598	T	0.039	0.16935	T	10	0.008723468	0.00198	T	0.011127	0.28436	T	0.188	0.46444	.	.	0.377097596864	0.37317	0.796562215481821	0.79609	0.452195566295	0.44952	0.530304789543	0.43078	T	0.017298	0.14140	T	-0.505285	0.00534	T	-0.497767	0.22580	T	0.0457334771042511	0.04735	T	0.883212	0.60517	D	0.4897794	0.66490	0.36920756	0.62195	0.4897794	0.66490	0.36920756	0.62195	-3.888	0.22122	T	0.153122664218272	0.18190	0.081	0.08465	B	.	.	3.085182	0.41523	21.4	0.76432185195278002	0.11466	0.93025	0.57137	D	AEFDBI	0.487827	0.52641	N	0.114390587134181	0.47135	2.943376	0.287825068648412	0.54826	3.646716	0.99999995555624	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.16	6.16	0.99302	4.787000	0.62125	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.860	0.99763	859	0.33891	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	0.004532	0.000000	0.000000	0.005848	0.000000	0.000000	0.015337	0.003788	0.08333	2649.83	35	chr6	106587707	.	C	G	2649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=365;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=1.05;SOR=0.734	GT:AD:DP:GQ:PL	0/1:77,93:170:99:2660,0,2016	5	0	1	0
chr6	116253540	116253540	G	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.C469A:p.R157S	.	418	1079	22	3	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00119808	0.0061	0	0	0	0	0.0040	0.0042	0.0123	0.0011837	183	154602	rs182432245	0.0018	0.0017	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0115	0.0003	0.0011	0.0104	2.798e-05	0.0003	0.0065	0.0009	0.0029	0.0124	0.0014	0.0014	0.0013	0.0015	0.0108	0.0012	0.0012	0.0085	0.0076	0.0002	0	0.0013	0.0075	0.0002	9.443e-05	0.0102	0.0014	0.0024	0.0108	0.721	0.03914	T	0.739	0.05000	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	2.22	0.18248	T	0.82	0.01813	N	0.108	0.09349	-0.9230	0.45141	T	0.004	0.01435	T	9	0.0025902987	0.00039	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.09711456065731681	0.09642	0.372870948759	0.38771	0.356619268656	0.18893	T	0.00125	0.00742	T	-0.722558	0.00027	T	-0.800293	0.01895	T	0.0021529706113725	0.00022	T	0.135486	0.01070	T	0.078095175	0.17764	0.061591078	0.11916	0.078095175	0.17763	0.061591078	0.11916	-3.624	0.18204	T	.	.	0.112	0.21913	B	.	.	-0.051698	0.03940	0.877	0.80589257094945266	0.13275	0.07228	0.13253	N	ALL	0.085917	0.17419	N	-1.7363353794475	0.00721	0.03111612	-1.69043245975076	0.01180	0.05311064	0.999999999993605	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.19	-3.56	0.04330	-0.401000	0.07293	-0.038000	0.12706	-0.741000	0.03665	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.2239:0.4961:0.1579:0.1221	3.581	0.07502	559	0.71409	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006471	0.000000	0.013699	0.006250	0.000000	0.000000	0.010417	0.004808	0.08333	1942.83	78	chr6	116253540	.	G	T	1942.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=422;ExcessHet=0;FS=3.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.323;SOR=0.431	GT:AD:DP:GQ:PL	0/1:70,73:143:99:1953,0,1816	5	0	1	0
chr6	117365098	117365098	C	T	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon20:c.G3080A:p.G1027D,ROS1:NM_001378891:exon21:c.G3068A:p.G1023D,ROS1:NM_001378902:exon21:c.G3065A:p.G1022D	.	426	1084	11	1	0	13	0.00596057	.	.	.	735382	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.247	0.0385318204558	0.0005	0.000599042	0.0008	9.619e-05	0.0010	0	0	0.0005	0	0.0027	0.0006727	104	154602	rs149513638	0.0004	0.0004	0.0003	0.0005	0.0038	0.0004	0.0004	0.0026	0.0022	0.0003	0.0012	0.0013	0	3.745e-05	0.0038	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.222e-05	0	0.0009	0.0014	0	0	0.0102	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000279	0.46590	D	0.093959	0.999281	0.46548	D	1.78	0.46185	L	0.19	0.60236	T	-3.27	0.65512	D	0.88	0.87808	-0.6809	0.61331	T	0.188	0.53901	T	10	0.069080085	0.09862	T	0.038532	0.58281	D	0.247	0.55478	.	.	0.489104616352	0.48544	0.8251077521477099	0.82468	0.222514327128	0.24783	0.653309941292	0.60456	T	0.423871	0.77448	T	-0.125213	0.32274	T	0.0436862	0.73169	D	0.0805995687842369	0.10064	T	0.847115	0.52772	T	0.41673973	0.61874	0.46177614	0.68747	0.41673973	0.61875	0.46177614	0.68747	-12.77	0.88393	D	0.7500997215269388	0.83218	0.869	0.82265	P	.;.	.;.	4.719167	0.75895	26.4	0.99821781379981667	0.90414	0.90454	0.51643	D	AEFI	0.574312	0.57715	D	0.570977430348343	0.71367	5.640287	0.615642790575072	0.76075	6.424778	0.0287700612747789	0.13850	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	5.64	0.86480	3.765000	0.54984	5.892000	0.50774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8472:0.1528:0.0	15.006	0.71168	665	0.61472	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	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.005051	0.012228	0.005848	0.000000	0.000000	0.003067	0.007576	0.08333	978.83	33	chr6	117365098	.	C	T	978.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.916;DP=241;ExcessHet=0;FS=2.006;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.763;SOR=0.992	GT:AD:DP:GQ:PL	0/1:31,39:70:99:989,0,765	5	0	1	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I,NCOA7:NM_001199621:exon13:c.C2255T:p.T752I,NCOA7:NM_001122842:exon14:c.C2567T:p.T856I,NCOA7:NM_181782:exon14:c.C2600T:p.T867I,NCOA7:NM_001199619:exon15:c.C2600T:p.T867I,NCOA7:NM_001199620:exon16:c.C2600T:p.T867I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc 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	.	.	.	.	.	.	.	.	0.1	233.7	34	chr6	125927739	.	C	T	233.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.266;DP=440;ExcessHet=0;FS=142.432;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=1.3;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,37:169:99:0|1:125927739_C_T:243,0,2710:125927739	4	0	1	1
chr6	131950887	131950887	G	C	exonic	CCN2	.	nonsynonymous SNV	CCN2:NM_001901:exon2:c.C172G:p.R58G	.	1	1484	35	2	0	39	0.0129697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	.	0.00179712	0.0058	0	0	0	.	0.0114	0	0.0043	0.0008279	128	154602	rs111779788	0.0029	0.0028	0.0029	0.0030	0.0098	0.0028	0.0028	0.0074	0.0066	0.0004	0.0025	0.0079	0	0.0042	0.0098	0.0027	0.0042	0.0043	0.0023	0.0023	0.0022	0.0025	0.0037	0.0021	0.0020	0.0024	0.0023	0.0005	0	0.0027	0.0063	0.0004	0.0050	0.0034	0.0028	0.0024	0.0037	0.033	0.44358	D	0.058	0.46182	T	0.948	0.53620	P	0.804	0.58350	P	0.000055	0.53742	D	0.113091	0.612338	0.30850	N	2.945	0.84822	M	0.3	0.58755	T	-3.43	0.67359	D	0.543	0.57006	-0.7450	0.58195	T	0.196	0.55056	T	10	0.013961047	0.00294	T	.	.	.	0.323	0.64522	.	.	0.796444336488	0.79454	0.4768576801871693	0.47605	1.47171924055	0.86544	0.900508642197	0.96497	D	0.337636	0.70700	T	-0.260269	0.12869	T	-0.146779	0.59528	T	0.0537744793132564	0.06151	T	0.946505	0.79528	D	0.7260425	0.79500	0.6255168	0.78171	0.7260425	0.79502	0.6255168	0.78172	-11.85	0.84113	D	.	.	0.228	0.45990	B	.	.	4.691501	0.75173	26.3	0.99747779445746043	0.84002	0.57040	0.30273	D	ALL	0.599166	0.59229	D	0.170819427394724	0.49802	3.176582	0.0928453673664277	0.44187	2.705418	0.999999897586289	0.74766	0.542737	0.22433	0	0.59043	0.45803	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.1	3.05	0.34272	0.429000	0.21131	6.921000	0.56929	0.586000	0.30580	0.215000	0.24480	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.6052:0.3948	13.400	0.60323	435	0.80441	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007437	0.000000	0.003030	0.015924	0.000000	0.000000	0.019380	0.004310	0.1667	492.06	37	chr6	131950887	.	G	C	492.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.324;DP=182;ExcessHet=0.4139;FS=4.073;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.61;SOR=1.333	GT:AD:DP:GQ:PL	0/1:11,16:27:99:394,0,286	4	0	2	0
chr6	136366384	136366384	C	T	exonic	MAP7	.	nonsynonymous SNV	MAP7:NM_001198617:exon7:c.G650A:p.R217Q,MAP7:NM_001198611:exon8:c.G887A:p.R296Q,MAP7:NM_001198616:exon8:c.G821A:p.R274Q,MAP7:NM_001198608:exon9:c.G998A:p.R333Q,MAP7:NM_001198609:exon9:c.G1022A:p.R341Q,MAP7:NM_001198615:exon9:c.G887A:p.R296Q,MAP7:NM_001198618:exon9:c.G494A:p.R165Q,MAP7:NM_001198619:exon9:c.G494A:p.R165Q,MAP7:NM_003980:exon9:c.G932A:p.R311Q,MAP7:NM_001198614:exon10:c.G998A:p.R333Q	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0135859483041	0.0002	.	0.0002	0.0004	0	0.0013	0	5.995e-05	0	0	0.0001229	19	154602	rs148369326	3.968e-05	3.967e-05	4.084e-05	3.85e-05	0.0008	3.113e-05	2.846e-05	0.0005	0.0005	0.0002	2.236e-05	0	0.0008	0	0	1.259e-05	8.279e-05	1.159e-05	0.0001	0.0001	8.993e-05	0.0002	0.0010	8.668e-05	7.259e-05	0.0004	0.0002	0.0003	0	6.546e-05	0	0.0010	0	0	0	0.0005	0	0.042	0.43708	D	0.069	0.50809	T	0.774	0.44062	P	0.116	0.31939	B	0.007281	0.31484	N	0.146452	0.973711	0.25531	N	1.92	0.51302	L	2.5	0.14408	T	-1.54	0.37375	N	0.129	0.18239	-0.9863	0.33518	T	0.009	0.03271	T	10	0.024883032	0.00701	T	0.013586	0.33109	T	0.016	0.02506	.	.	0.262679179196	0.25893	0.3096038671047802	0.30873	0.224687600524	0.25003	0.294834375381	0.09633	T	0.032289	0.47068	T	-0.544735	0.00314	T	-0.568481	0.15589	T	0.0534433715293256	0.06095	T	0.887611	0.61581	D	0.07732857	0.17545	0.06262254	0.12281	0.07732857	0.17544	0.06262254	0.12280	-4.321	0.38594	T	.	.	0.083	0.12371	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.695775	0.35200	19.83	0.99841591766667714	0.92229	0.55020	0.29759	D	AEFDBI	0.101050	0.20305	N	-0.0394154043712978	0.40076	2.373928	0.0710756429829178	0.43101	2.618953	0.999966983483701	0.48965	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.616125	0.45549	0	.	.	5.54	4.68	0.58319	1.675000	0.37171	1.077000	0.23857	0.599000	0.40250	0.990000	0.36992	0.579000	0.25612	0.970000	0.54328	0.0:0.816:0.0:0.184	8.423	0.31876	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	.	.	.	.	.	.	.	.	0.08333	893.83	33	chr6	136366384	.	C	T	893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=235;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.299;SOR=0.693	GT:AD:DP:GQ:PL	0/1:26,34:60:99:904,0,580	5	0	1	0
chr6	158066519	158066519	T	C	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_001178088:exon11:c.T890C:p.M297T,SYNJ2:NM_003898:exon12:c.T1601C:p.M534T	.	434	1051	36	1	0	38	0.017757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0471108017437	0.0043	0.000798722	0.0053	0.0017	0.0060	0	0.0062	0.0060	0.0055	0.0065	0.0050258	777	154602	rs140670406	0.0056	0.0056	0.0056	0.0057	0.0068	0.0055	0.0055	0.0058	0.0058	0.0010	0.0048	0.0055	7.557e-05	0.0051	0.0068	0.0060	0.0061	0.0062	0.0045	0.0045	0.0042	0.0048	0.0067	0.0042	0.0041	0.0062	0.0060	0.0012	0.0055	0.0037	0.0023	0	0.0065	0.0102	0.0067	0.0043	0.0064	0.144	0.25255	T	0.092	0.39954	T	0.001	0.07471	B	0.002	0.10090	B	0.113323	0.19320	N	0.501020	0.960584	0.38188	D	0.455	0.12820	N	-3.59	0.94975	D	-1.56	0.37759	N	0.327	0.36779	0.019	0.82639	D	0.589	0.85298	D	10	0.010551751	0.00234	T	0.047111	0.62773	D	0.329	0.65126	.	.	0.871726672671	0.87048	0.552649446502189	0.55190	0.218780402975	0.24419	0.239437758923	0.02740	T	0.387238	0.74821	T	-0.284348	0.10212	T	-0.177217	0.56780	T	0.00374427043438339	0.00040	T	0.737926	0.35508	T	0.08320107	0.19201	0.12600069	0.30352	0.08320107	0.19201	0.12600069	0.30351	-4.036	0.24341	T	.	.	0.076	0.08754	B	.;.;.	.;.;.	1.442082	0.18620	13.83	0.83304038185294793	0.14653	0.93331	0.57931	D	AEFBI	0.303151	0.41120	N	-0.238356399558222	0.31571	1.77159	-0.113707729520661	0.34837	2.008443	0.99998142565439	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.566861	0.19136	0	0.735409	0.98432	0	.	.	5.27	4.1	0.47196	2.724000	0.46956	1.118000	0.24218	0.665000	0.62972	1.000000	0.71638	0.885000	0.27754	0.914000	0.44937	0.0:0.1443:0.0:0.8557	9.844	0.40184	958	0.09170	Inositol polyphosphate-related phosphatase;.;Inositol polyphosphate-related phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.005051	0.006793	0.000000	0.000000	0.000000	0.015244	0.015152	0.08333	1625.83	36	chr6	158066519	.	T	C	1625.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.453;DP=368;ExcessHet=0;FS=3.355;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.092;SOR=0.65	GT:AD:DP:GQ:PL	0/1:110,77:187:99:1636,0,2871	5	0	1	0
chr6	158074676	158074676	C	T	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_001178088:exon15:c.C1519T:p.R507C,SYNJ2:NM_003898:exon16:c.C2230T:p.R744C	.	.	.	.	.	.	.	.	.	.	.	3478284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.805	0.094057213847	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs757678495	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0001	8.31e-06	6.7e-06	5.398e-05	4.044e-05	0	0	0	2.52e-05	0	0	8.094e-06	0	0.0001	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.003	0.68238	D	0.025	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000022	0.55875	D	0.000000	0.999999	0.58761	D	2.165	0.60562	M	-3.68	0.95282	D	-3.9	0.72932	D	0.53	0.55886	0.952	0.96423	D	0.896	0.96548	D	10	0.81020105	0.80312	D	0.094057	0.76184	D	0.805	0.93660	0.565	0.68633	0.878905868724	0.87772	0.7349865221508605	0.73443	0.866990942957	0.69245	0.639630734921	0.58511	T	0.820087	0.95592	D	0.228241	0.76555	D	0.271604	0.86661	D	0.946112036705017	0.62402	D	0.968103	0.88413	D	0.27907968	0.50959	0.2948314	0.55514	0.27907968	0.50959	0.2948314	0.55513	-9.452	0.71523	D	.	.	0.229	0.49884	B	.;.;.;.	.;.;.;.	6.048371	0.94433	34	0.99933587297301285	0.99488	0.99751	0.99195	D	AEFGBI	0.877579	0.80231	D	0.859313936286307	0.89631	10.05194	0.855232724887464	0.93318	11.96423	0.999999998664791	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.699000	0.83526	7.529000	0.59886	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.111	0.97910	958	0.09170	Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;.;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Inositol polyphosphate-related phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1563.83	34	chr6	158074676	.	C	T	1563.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.734;DP=284;ExcessHet=0;FS=7.398;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.818;SOR=0.302	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1574,0,1106	5	0	1	0
chr6	165298038	165298038	C	T	exonic	C6orf118	.	nonsynonymous SNV	C6orf118:NM_144980:exon5:c.G1000A:p.A334T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0154990882602	7.7e-05	.	0.0002	9.619e-05	0.0002	0	0.0002	0.0003	0	6.235e-05	0.0001617	25	154602	rs202037689	0.0001	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	5.977e-05	0.0002	0.0009	2.519e-05	9.387e-05	0	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.827e-05	0	0.0001	0.0003	0	9.416e-05	0	0.0003	0	0	0.01	0.56456	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.000271	0.46590	D	0.089004	0.999954	0.19072	N	1.975	0.53506	M	2.6	0.13204	T	-3.15	0.64132	D	0.517	0.54757	-1.1135	0.02785	T	0.048	0.20434	T	10	0.2908033	0.46660	T	0.015499	0.36266	T	0.148	0.39182	.	.	0.0884992946249	0.08302	0.0976945828578769	0.09700	0.360962373885	0.37756	0.377084195614	0.21843	T	0.032098	0.22339	T	-0.304892	0.08206	T	-0.35766	0.38323	T	0.199699228471907	0.20399	T	0.667533	0.27667	T	0.17327994	0.38067	0.1624651	0.37738	0.17327994	0.38066	0.1624651	0.37737	-4.46	0.30362	T	.	.	0.199	0.42259	B	.	.	3.714164	0.53042	23.3	0.99838459179734129	0.91886	0.20169	0.20940	N	AEFBI	0.061261	0.11698	N	0.0673551535373611	0.44945	2.759411	-0.125811757882736	0.34352	1.975088	2.99274535083825E-4	0.06406	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.67	3.79	0.42757	0.596000	0.23744	4.624000	0.44088	0.599000	0.40250	0.142000	0.23535	1.000000	0.68203	0.001000	0.02609	0.1978:0.8022:0.0:0.0	10.246	0.42521	986	0.02773	Translin-associated factor X-interacting protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1821.83	34	chr6	165298038	.	C	T	1821.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.631;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.903;SOR=0.641	GT:AD:DP:GQ:PL	0/1:66,75:141:99:1832,0,1465	5	0	1	0
chr6	167969811	167969811	G	A	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001207008:exon32:c.G5108A:p.G1703E,AFDN:NM_001291964:exon33:c.G5222A:p.G1741E,AFDN:NM_001366319:exon33:c.G5345A:p.G1782E,AFDN:NM_001366320:exon33:c.G5351A:p.G1784E,AFDN:NM_001366321:exon33:c.G5330A:p.G1777E	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	.	0.0041	0.00299521	0.0010	0.0115	0.0003	0	0	0	0.0011	0	0.000912	141	154602	rs6921553	0.0003	0.0004	0.0004	0.0003	0.0117	0.0003	0.0003	0.0108	0.0104	0.0117	0.0009	0	0	0	0.0010	1.26e-05	0.0010	0	0.0036	0.0037	0.0034	0.0039	0.0126	0.0034	0.0033	0.0117	0.0114	0.0126	0	0.0014	0	0	0	0	2.94e-05	0.0033	0	0.003	0.91255	D	0.327	0.30729	T	0.998	0.73220	D	0.941	0.67658	D	0.001674	0.38326	N	0.168410	0.999743	0.48716	D	2.215	0.62545	M	3.66	0.04746	T	-1.65	0.45404	N	0.505	0.78356	-0.7326	0.58832	T	0.225	0.58894	T	10	0.0068939924	0.00157	T	.	.	.	0.153	0.40148	.	.	0.123314135267	0.11883	0.21570064282913454	0.21486	.	.	0.517325758934	0.41250	T	0.025764	0.75362	T	-0.434133	0.01400	T	-0.385347	0.35095	T	0.0535833403493452	0.06118	T	0.846715	0.53247	T	0.24028657	0.46930	0.3911136	0.63890	0.24028657	0.46930	0.3911136	0.63890	-4.801	0.34603	T	.	.	0.226	0.46097	B	.;.;.;.;.	.;.;.;.;.	4.632781	0.73682	26.0	0.99761699449945063	0.85091	0.99633	0.98183	D	AEFDBI	0.927376	0.90994	D	0.450226543643914	0.64217	4.67118	0.501157152101135	0.68070	5.169396	0.999996845962803	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	8.925000	0.92380	11.623000	0.93636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.224	0.93795	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	915.06	33	chr6	167969811	.	G	A	915.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.183;DP=189;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.485;SOR=0.746	GT:AD:DP:GQ:PL	0/1:20,17:37:99:443,0,507	4	0	2	0
chr6	167976307	167976307	G	C	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C346G:p.P116A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0073	0	0	0	0	0	0	9.06e-05	14	154602	rs71573433	0	1.392e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.872e-05	0.0002	7.356e-05	0.0001	0.0004	5.797e-05	4.532e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1045.19	47	chr6	167976307	.	G	C	1045.19	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.593;DP=236;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.4;MQRankSum=-1.515;QD=16.59;ReadPosRankSum=0.448;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,12:47:99:0|1:167976273_A_C:376,0,1270:167976273	4	1	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2681.43	64	chr6	170561964	.	G	*	2681.43	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-2.577;DP=819;ExcessHet=0.1336;FS=3.859;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.92;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,53:77:99:1|0:170561949_GCAA_G:3769,1021,875:170561949	1	1	3	1
chr7	848558	848558	C	G	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367636:exon6:c.C649G:p.H217D,SUN1:NM_001367646:exon6:c.C649G:p.H217D,SUN1:NM_001367655:exon6:c.C649G:p.H217D,SUN1:NM_001367666:exon6:c.C649G:p.H217D,SUN1:NM_001367673:exon6:c.C649G:p.H217D,SUN1:NM_001367681:exon6:c.C649G:p.H217D,SUN1:NM_001367684:exon6:c.C649G:p.H217D,SUN1:NM_001367691:exon6:c.C649G:p.H217D,SUN1:NM_001367706:exon6:c.C649G:p.H217D,SUN1:NM_001367640:exon7:c.C799G:p.H267D,SUN1:NM_001367641:exon7:c.C799G:p.H267D,SUN1:NM_001367674:exon7:c.C799G:p.H267D,SUN1:NM_001367675:exon7:c.C799G:p.H267D,SUN1:NM_001367676:exon7:c.C799G:p.H267D,SUN1:NM_001367677:exon7:c.C799G:p.H267D,SUN1:NM_001367678:exon7:c.C799G:p.H267D,SUN1:NM_001367682:exon7:c.C799G:p.H267D,SUN1:NM_001367687:exon7:c.C799G:p.H267D,SUN1:NM_001367690:exon7:c.C799G:p.H267D,SUN1:NM_001367692:exon7:c.C799G:p.H267D,SUN1:NM_001367698:exon7:c.C799G:p.H267D,SUN1:NM_001367699:exon7:c.C799G:p.H267D,SUN1:NM_001367700:exon7:c.C799G:p.H267D,SUN1:NM_001367703:exon7:c.C799G:p.H267D,SUN1:NM_001367705:exon7:c.C799G:p.H267D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0134916001056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.22920	T	0.092	0.39954	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.02	0.21119	T	-0.74	0.20791	N	.	.	-1.0123	0.26196	T	0.042	0.17910	T	8	0.13292325	0.25300	T	0.013492	0.32933	T	0.045	0.12272	.	.	0.117191471859	0.11215	.	.	.	.	.	.	.	0.012393	0.10902	T	-0.327189	0.06326	T	-0.707761	0.05412	T	0.0413823313444732	0.03942	T	0.458654	0.13238	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.23986	B	.	.	1.819030	0.23114	15.89	0.87450918200104333	0.17236	0.52579	0.29165	D	AEFDGBI	0.115575	0.22718	N	-0.695670258105031	0.16145	0.8199675	-0.582347222217622	0.19954	1.072882	0.0931603696469884	0.16175	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.34	1.67	0.23149	1.703000	0.37465	1.495000	0.26916	-1.097000	0.01519	0.997000	0.40164	0.999000	0.35428	0.857000	0.40602	0.0:0.1855:0.1913:0.6232	4.300	0.10366	895	0.25842	SUN domain-containing protein 1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	823.83	37	chr7	848558	.	C	G	823.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.454;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.39;SOR=0.685	GT:AD:DP:GQ:PL	0/1:32,29:61:99:834,0,856	5	0	1	0
chr7	988740	988740	C	T	exonic	CYP2W1	.	nonsynonymous SNV	CYP2W1:NM_017781:exon9:c.C1391T:p.P464L	.	387	1128	6	1	0	8	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.045092674562	0.0045	0.00139776	0.0051	0.0023	0.0031	0	0.0054	0.0069	0.0080	0.0036	0.0048318	747	154602	rs149976257	0.0071	0.0071	0.0074	0.0069	0.0083	0.0070	0.0070	0.0081	0.0081	0.0013	0.0037	0.0038	2.52e-05	0.0041	0.0023	0.0083	0.0051	0.0039	0.0050	0.0050	0.0054	0.0046	0.0080	0.0047	0.0046	0.0075	0.0073	0.0015	0.0274	0.0037	0.0040	0.0004	0.0024	0.0034	0.0080	0.0066	0.0033	0.258	0.16683	T	0.036	0.52060	D	0.772	0.43974	P	0.116	0.31939	B	0.117877	0.19136	N	0.573455	1	0.08975	N	0.895	0.22405	L	-0.4	0.69287	T	-2.59	0.55821	D	0.061	0.03283	-0.8222	0.53796	T	0.190	0.54153	T	10	0.0039518178	0.00076	T	0.045093	0.61813	D	0.144	0.38394	.	.	0.576907859032	0.57359	0.4940565454649463	0.49326	0.209163875076	0.23382	0.579017043114	0.49947	T	0.049647	0.28367	T	-0.464357	0.00923	T	-0.432402	0.29663	T	0.0115027526456319	0.00173	T	0.694731	0.30434	T	0.077569194	0.17613	0.063532785	0.12599	0.077569194	0.17613	0.063532785	0.12599	-5.798	0.44557	T	.	.	0.101	0.17657	B	.	.	1.652926	0.21087	15.04	0.97544198428318873	0.34528	0.07550	0.13563	N	AEFDBHCIJ	0.206787	0.33302	N	-0.516982243449109	0.21530	1.14333	-0.623462053315648	0.18891	1.011186	0.999999999740137	0.74766	0.676195	0.55175	0	0.759151	0.99529	0	0.607795	0.38427	0	0.554799	0.18163	0	.	.	4.65	2.47	0.29113	0.685000	0.25058	2.085000	0.30516	0.519000	0.23678	0.000000	0.06391	0.006000	0.19429	0.003000	0.05239	0.21:0.6899:0.0:0.1001	6.931	0.23621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004541	0.005155	0.002717	0.002924	0.000000	0.008621	0.003049	0.011364	0.08333	586.83	35	chr7	988740	.	C	T	586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=231;ExcessHet=0;FS=1.043;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.278;SOR=0.536	GT:AD:DP:GQ:PL	0/1:30,23:53:99:597,0,722	5	0	1	0
chr7	1010113	1010113	C	A	exonic	C7orf50	.	nonsynonymous SNV	C7orf50:NM_001134395:exon3:c.G160T:p.A54S,C7orf50:NM_001134396:exon3:c.G160T:p.A54S,C7orf50:NM_001318252:exon3:c.G160T:p.A54S,C7orf50:NM_001350968:exon3:c.G160T:p.A54S,C7orf50:NM_001350969:exon3:c.G118T:p.A40S,C7orf50:NM_032350:exon3:c.G160T:p.A54S	.	424	1095	2	1	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000951276224655	0.0039	0.00119808	0.0043	0.0021	0.0026	0	0.0049	0.0056	0.0086	0.0033	0.0044954	695	154602	rs34458355	0.0064	0.0064	0.0066	0.0061	0.0075	0.0063	0.0062	0.0074	0.0073	0.0013	0.0034	0	0	0.0037	0.0005	0.0075	0.0045	0.0034	0.0044	0.0044	0.0047	0.0040	0.0072	0.0041	0.0040	0.0067	0.0065	0.0012	0.0275	0.0036	0	0.0004	0.0023	0	0.0072	0.0057	0.0019	0.305	0.14256	T	0.533	0.15506	T	0.01	0.15535	B	0.004	0.10090	B	0.316007	0.04044	N	1.626230	1	0.08975	N	1.24	0.30952	L	.	.	.	-0.15	0.09297	N	0.098	0.07949	-1.0070	0.27850	T	0.048	0.20434	T	9	0.0033142269	0.00057	T	9.51E-4	0.00957	T	0.011	0.01250	.	.	0.110078149338	0.10416	0.09317787634839428	0.09249	0.0278430330954	0.02857	.	.	.	0.007415	0.11022	T	-0.539879	0.00335	T	-0.53888	0.18406	T	0.00125443922670724	0.00012	T	0.492651	0.15191	T	0.02868024	0.02242	0.033988245	0.02386	0.02868024	0.02242	0.033988245	0.02385	-4.476	0.30573	T	.	.	0.085	0.11701	B	.;.;.;.;.	.;.;.;.;.	-0.201885	0.03081	0.483	0.73628713485054642	0.10397	0.11773	0.16852	N	AEFDGBCI	0.051710	0.09163	N	-1.15448532085802	0.05706	0.2608511	-1.38222380227301	0.03441	0.1605257	0.990703876817785	0.32242	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	2.81	-5.26	0.02559	-0.003000	0.12836	-3.258000	0.02929	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2743:0.3148:0.15:0.2609	0.405	0.00402	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1702.83	36	chr7	1010113	.	C	A	1702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=263;ExcessHet=0;FS=2.985;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=1.44;SOR=0.386	GT:AD:DP:GQ:PL	0/1:32,59:91:99:1713,0,694	5	0	1	0
chr7	1936767	1936767	C	T	exonic	MAD1L1	.	nonsynonymous SNV	MAD1L1:NM_001304525:exon2:c.G95A:p.R32H,MAD1L1:NM_001304524:exon15:c.G1451A:p.R484H,MAD1L1:NM_001304523:exon16:c.G1727A:p.R576H,MAD1L1:NM_001013836:exon17:c.G1727A:p.R576H,MAD1L1:NM_001013837:exon17:c.G1727A:p.R576H,MAD1L1:NM_003550:exon17:c.G1727A:p.R576H	Lymphoma, somatic (3);Prostate cancer, somatic	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00974158001716	0.0004	.	0.0016	0	0	0	0	0.0026	0	0.0012	0.0005498	85	154602	rs201154265	0.0011	0.0011	0.0011	0.0012	0.0018	0.0011	0.0011	0.0012	0.0012	0.0001	7.808e-05	0.0010	5.347e-05	0.0002	0.0018	0.0013	0.0009	0.0015	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	6.532e-05	0.0009	0	9.409e-05	0	0.0010	0.0019	0.0010	0.16	0.28395	T	0.117	0.39492	T	0.028	0.19712	B	0.014	0.16862	B	0.001842	0.37840	N	0.283615	1	0.08975	N	0.81	0.20779	L	1.88	0.23884	T	-2.39	0.56630	N	0.149	0.19055	-1.0943	0.04854	T	0.037	0.16160	T	10	0.013055682	0.00278	T	0.009742	0.25427	T	0.035	0.08770	.	.	0.202949470691	0.19918	0.1748863263074709	0.17407	0.142616884564	0.16085	0.494232356548	0.38026	T	0.396544	0.75514	T	-0.672914	0.00053	T	-0.752601	0.03386	T	0.0073815817526415	0.00085	T	0.667933	0.27701	T	0.07151845	0.15840	0.10127591	0.24239	0.096358486	0.22694	0.09634044	0.22887	-4.601	0.37844	T	.	.	0.066	0.04198	B	.;.;.;.;.;.	.;.;.;.;.;.	0.011208	0.04358	1.118	0.96024781848136276	0.28486	0.04808	0.10529	N	AEFDGBCI	0.059712	0.11298	N	-1.47780404249584	0.02007	0.08819427	-1.58392639126945	0.01753	0.07975893	0.999999104900415	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.77	-4.92	0.02848	-0.163000	0.09986	-4.350000	0.02203	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.1172:0.3464:0.0:0.5364	6.795	0.22905	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	0.002049	0.000000	0.001366	0.005882	0.000000	0.000000	0.000000	0.000000	0.08333	638.83	35	chr7	1936767	.	C	T	638.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.168;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.159;SOR=0.716	GT:AD:DP:GQ:PL	0/1:19,24:43:99:649,0,468	5	0	1	0
chr7	5359443	5359443	G	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon15:c.C4788A:p.N1596K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00448945077156	8.1e-05	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs369331019	8.894e-06	8.893e-06	8.168e-06	9.627e-06	8.994e-06	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	4.969e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-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	0.289	0.15149	T	1.0	0.01155	T	0.009	0.15093	B	0.002	0.06944	B	0.217903	0.16208	N	0.560274	0.863718	0.28316	N	1.355	0.33814	L	2.87	0.40749	T	-1.4	0.34596	N	0.419	0.45898	-1.0342	0.19109	T	0.068	0.27743	T	10	0.072695404	0.10886	T	0.004489	0.11031	T	0.089	0.25827	0.167	0.07186	0.043077524339	0.03247	0.0393523972740733	0.03881	0.0669625001767	0.07473	0.294202566147	0.09539	T	0.015279	0.12850	T	-0.289343	0.09701	T	-0.637912	0.09823	T	0.43219119310379	0.30142	T	0.767123	0.43036	T	0.07630735	0.17248	0.08420207	0.19352	0.07630735	0.17248	0.08420207	0.19352	2.119	0.00046	T	.	.	0.268	0.53448	B	.;.;.	.;.;.	2.517905	0.32531	19.07	0.98478450792170691	0.41943	0.90624	0.51955	D	AEFDBI	0.170751	0.29768	N	-0.264745674613395	0.30519	1.702482	-0.0378756507874952	0.38020	2.234067	0.986061619211613	0.30998	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	3.064000	0.49680	6.728000	0.56449	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0792:0.0:0.9208:0.0	12.022	0.52640	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	.	.	.	.	.	.	.	.	0.08333	1982.83	36	chr7	5359443	.	G	T	1982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.483;DP=366;ExcessHet=0;FS=1.27;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-1.856;SOR=0.586	GT:AD:DP:GQ:PL	0/1:77,79:156:99:1993,0,2024	5	0	1	0
chr7	17339293	17339293	A	G	exonic	AHR	.	nonsynonymous SNV	AHR:NM_001621:exon10:c.A1468G:p.M490V	.	417	1061	44	0	0	44	0.0203139	.	.	.	1155650	AHR-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.009	0.00592794406859	0.0010	0.00139776	0.0019	0.0005	0.0038	0.0002	0	0.0023	0.0044	0.0010	0.0017852	276	154602	rs61755968	0.0015	0.0015	0.0015	0.0016	0.0333	0.0015	0.0014	0.0294	0.0280	0.0014	0.0044	0.0103	2.519e-05	1.872e-05	0.0333	0.0011	0.0035	0.0013	0.0018	0.0018	0.0020	0.0015	0.0043	0.0016	0.0015	0.0034	0.0031	0.0004	0	0.0043	0.0089	0	0	0.0680	0.0017	0.0061	0.0010	0.686	0.04353	T	0.479	0.11933	T	0.0	0.02946	B	0.001	0.04355	B	0.386539	0.04452	N	1.295330	1	0.08975	N	-0.805	0.01590	N	3.6	0.04494	T	-0.26	0.11185	N	0.022	0.00372	-0.9222	0.45252	T	0.004	0.01470	T	10	0.003658086	0.00067	T	0.005928	0.15460	T	0.009	0.00846	.	.	0.204265027416	0.20035	0.17086664397383802	0.17006	0.114153396927	0.12873	0.218387007713	0.01219	T	0.085885	0.37601	T	-0.77272	0.00012	T	-0.877045	0.00679	T	0.00502727211406991	0.00054	T	0.260774	0.04184	T	0.0338362	0.03680	0.029485425	0.01292	0.0338362	0.03680	0.029485425	0.01292	-2.536	0.06032	T	.	.	0.052	0.00361	B	.;.;.	.;.;.	-1.957283	0.00111	0.002	0.38163772742654201	0.02558	0.05044	0.10831	N	AEFDGBHCI	0.047190	0.07918	N	-1.65382777947741	0.01019	0.04417788	-1.71530635961718	0.01071	0.04809935	0.99999999992978	0.74766	0.741895	0.98168	0	0.724815	0.89359	0	0.658983	0.55881	0	0.725737	0.93299	0	.	.	5.8	-9.3	0.00551	-0.989000	0.03846	-6.376000	0.01416	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3884:0.2679:0.3437:0.0	9.114	0.35907	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.030715	0.020202	0.020380	0.093567	0.000000	0.025862	0.012195	0.015152	0.08333	2822.83	34	chr7	17339293	.	A	G	2822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=345;ExcessHet=0;FS=1.221;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.106;SOR=0.82	GT:AD:DP:GQ:PL	0/1:70,98:168:99:2833,0,1847	5	0	1	0
chr7	27095361	27095361	G	T	exonic	HOXA1	.	nonsynonymous SNV	HOXA1:NM_005522:exon1:c.C552A:p.H184Q	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	1520	2	0	0	2	0.000657462	.	.	.	311028	Bosley-Salih-Alorainy_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0019075,MedGen:C1832216,Orphanet:69737|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0044979287642	.	.	4.118e-05	0	8.637e-05	0	0	5.993e-05	0	0	3.23e-05	5	154602	rs768265195	2.805e-05	2.805e-05	2.45e-05	3.163e-05	0.0001	2.086e-05	1.878e-05	5.804e-05	3.952e-05	2.987e-05	0.0001	0.0003	0	0	0	1.978e-05	3.312e-05	1.159e-05	3.289e-05	3.284e-05	5.144e-05	1.346e-05	6.547e-05	1.262e-05	7.99e-06	4.88e-06	1.83e-06	0	0	6.547e-05	0.0006	0	0	0	2.941e-05	0	0	0.465	0.08609	T	0.859	0.03418	T	.	.	.	.	.	.	0.002036	0.37411	N	0.318098	0.998554	0.81001	D	.	.	.	1.43	0.32958	T	-0.72	0.20358	N	0.27	0.30574	-1.0513	0.14036	T	0.040	0.17020	T	10	0.099491656	0.18059	T	0.004498	0.11063	T	0.075	0.21907	0.192	0.10304	0.627475323314	0.62443	0.7135965389314167	0.71302	1.13161604598	0.78638	0.688727557659	0.65524	T	.	.	.	-0.347264	0.04901	T	-0.467297	0.25807	T	0.0607257083807729	0.07282	T	0.750425	0.37198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24867	B	.;.	.;.	4.810428	0.78248	26.9	0.88477973524149045	0.18008	0.71350	0.34975	D	AEFDBCI	.	.	.	-0.245041859940611	0.31302	1.753797	-0.0526498198919395	0.37376	2.187581	0.99999739151433	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.616487	0.41570	0	0.375	0.06713	1	.	.	5.01	4.05	0.46415	1.429000	0.34511	9.719000	0.81359	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1816:0.2144:0.604:0.0	4.187	0.09863	440	0.80101	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2043.06	35	chr7	27095361	.	G	T	2043.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.14;DP=327;ExcessHet=0.4139;FS=1.186;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.28;SOR=0.57	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1250,0,1476	4	0	2	0
chr7	36870425	36870425	T	C	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001039459:exon5:c.A433G:p.M145V,ELMO1:NM_130442:exon5:c.A433G:p.M145V,ELMO1:NM_001206480:exon20:c.A1873G:p.M625V,ELMO1:NM_001206482:exon20:c.A1873G:p.M625V,ELMO1:NM_014800:exon20:c.A1873G:p.M625V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0107805417457	.	.	8.246e-06	9.617e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs776767360	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.252	0.23570	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.725	0.44537	L	0.93	0.44065	T	-1.85	0.43334	N	0.697	0.70175	-1.0613	0.11434	T	0.074	0.29960	T	10	0.46944326	0.59771	T	0.010781	0.27705	T	0.241	0.54641	0.424	0.46857	0.706560917885	0.70400	0.5539153075321251	0.55317	0.771881204982	0.64809	0.86879324913	0.92395	D	0.199479	0.55677	T	-0.082046	0.39383	T	-0.174102	0.57067	T	0.390660228325564	0.28589	T	0.874613	0.58533	D	0.32792452	0.55301	0.29452005	0.55483	0.32792452	0.55301	0.29452005	0.55482	-8.394	0.66348	D	.	.	0.120	0.46144	B	.;.;.;.;.	.;.;.;.;.	4.041693	0.59845	24.1	0.96035681880669921	0.28518	0.98789	0.86875	D	AEFBI	0.864646	0.78351	D	-0.0952207724873101	0.37601	2.189988	0.131533391871464	0.46171	2.867472	0.999999997378186	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.41	5.41	0.78313	7.674000	0.83146	7.825000	0.69893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.744	0.77688	851	0.35303	.;Pleckstrin homology domain;.;Pleckstrin homology domain;Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2756.06	35	chr7	36870425	.	T	C	2756.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.73;DP=365;ExcessHet=0.4139;FS=0.487;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.323;SOR=0.656	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1429,0,1461	4	0	2	0
chr7	37741076	37741076	T	C	exonic	GPR141	.	nonsynonymous SNV	GPR141:NM_001381946:exon3:c.T683C:p.L228P,GPR141:NM_001329993:exon4:c.T683C:p.L228P,GPR141:NM_001329994:exon4:c.T683C:p.L228P,GPR141:NM_181791:exon4:c.T683C:p.L228P	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.0654444155295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.008	0.67890	D	1.0	0.90584	D	0.995	0.83170	D	0.000210	0.47681	D	0.080969	1	0.81001	D	2.72	0.79541	M	0.96	0.42888	T	-3.35	0.66436	D	0.957	0.96644	-0.6419	0.63065	T	0.234	0.60087	T	10	0.91858447	0.91216	D	0.065444	0.69580	D	0.525	0.79886	0.688	0.82558	0.708074060055	0.70552	0.8589809990846944	0.85861	0.318980945097	0.34112	0.586587309837	0.51013	T	0.436589	0.78292	T	0.241501	0.77803	D	0.109123	0.77514	D	0.987975656986237	0.78375	D	0.741926	0.36121	T	0.8329009	0.86105	0.8531857	0.91718	0.8329009	0.86107	0.8531857	0.91718	-8.36	0.63498	D	.	.	0.921	0.84278	P	.;.	.;.	5.086497	0.84911	28.4	0.99904678924521639	0.97576	0.98650	0.85139	D	AEFI	0.951380	0.96589	D	0.720922135458119	0.81003	7.421696	0.683013475853444	0.81088	7.446003	0.999977436837317	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	7.462000	0.79890	7.648000	0.63548	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.999000	0.91618	0.0:0.0:0.0:1.0	14.496	0.67272	937	0.14592	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	.	.	.	.	.	.	.	.	0.1667	2404.06	33	chr7	37741076	.	T	C	2404.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.03;DP=366;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.07;SOR=0.661	GT:AD:DP:GQ:PL	0/1:75,43:118:99:1096,0,2172	4	0	2	0
chr7	39339990	39339990	C	T	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.C947T:p.P316L,POU6F2:NM_001166018:exon6:c.C860T:p.P287L,POU6F2:NM_007252:exon6:c.C860T:p.P287L	.	13	1488	21	0	0	21	0.00700701	.	.	.	750624	not_provided|POU6F2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.360	0.186887782839	0.0004	0.00119808	0.0009	0	0.0005	0	0	0.0004	0	0.0050	0.0007956	123	154602	rs140579551	0.0005	0.0005	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0043	2.99e-05	0.0003	0.0048	2.521e-05	0	0.0042	0.0001	0.0007	0.0049	0.0004	0.0004	0.0003	0.0005	0.0048	0.0003	0.0003	0.0033	0.0028	0	0	0.0004	0.0037	0.0002	0	0	0.0002	0.0005	0.0048	0.002	0.91255	D	0.018	0.66756	D	1.0	0.90584	D	0.995	0.88582	D	0.000000	0.00162	N	38.749600	0.999991	0.58761	D	0.895	0.22405	L	0.91	0.87910	T	-2.36	0.68178	N	0.572	0.68603	-0.0577	0.81042	T	0.789	0.92843	D	10	0.0104005635	0.00232	T	0.186888	0.85904	D	0.360	0.68052	.	.	0.944785693014	0.94420	0.4494868403030696	0.44866	0.12945880337	0.14595	0.710781097412	0.68706	T	0.381144	0.74352	T	-0.198564	0.21012	T	-0.056634	0.66565	D	0.0583975139153932	0.06913	T	0.934007	0.75281	D	0.27540636	0.50604	0.3132593	0.57324	0.2842961	0.51457	0.3352743	0.59343	-4.889	0.35611	T	0.1709959771602053	0.21531	0.102	0.32969	B	.;.;.;.;.	.;.;.;.;.	4.519271	0.70844	25.6	0.99677032777020813	0.78977	0.96149	0.67757	D	AEFDBI	0.698710	0.65630	D	0.538923182564204	0.69409	5.352951	0.496279600837992	0.67743	5.125052	0.985010285847895	0.30813	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	4.676000	0.61317	4.718000	0.44490	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.622	0.84784	871	0.31377	.;.;.;.;.	.	.	.	.	.	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	0.002591	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.015152	0.1667	1378.06	35	chr7	39339990	.	C	T	1378.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.51;DP=277;ExcessHet=0.4139;FS=5.703;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.323;SOR=1.226	GT:AD:DP:GQ:PL	0/1:39,39:78:99:987,0,909	4	0	2	0
chr7	44201164	44201164	A	G	exonic	YKT6	.	nonsynonymous SNV	YKT6:NM_001363678:exon1:c.A29G:p.Y10C,YKT6:NM_006555:exon1:c.A29G:p.Y10C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0435934262408	0.0008	0.000798722	0.0005	0.0003	0.0005	0	0	0.0007	0.0015	0	0.0003299	51	154602	rs150272603	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0001	0.0002	0	0	3.756e-05	0	0.0009	0.0006	1.165e-05	0.0006	0.0006	0.0007	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	0.0004	0	0.0007	0	0	0	0.0034	0.0009	0	0	0.138	0.25873	T	0.14	0.36765	T	0.999	0.77913	D	0.96	0.70309	D	0.000156	0.49130	D	0.185391	1	0.81001	D	2.915	0.84231	M	2.26	0.17596	T	-7.06	0.93879	D	0.759	0.79792	-0.9515	0.40712	T	0.118	0.41560	T	10	0.24128762	0.41303	T	0.043593	0.61064	D	0.256	0.56694	.	.	0.123314135267	0.11883	0.5828313263381804	0.58212	0.863382039472	0.69074	0.730811953545	0.71625	T	0.29553	0.66819	T	-0.274862	0.11221	T	-0.223944	0.52357	T	0.380399743830588	0.28198	T	0.954005	0.83363	D	0.6506685	0.75400	0.3051741	0.56545	0.6506685	0.75401	0.3051741	0.56544	-3.869	0.43756	T	.	.	0.154	0.34071	B	.;.	.;.	5.139185	0.86031	28.8	0.99759527961071592	0.84931	0.99550	0.97340	D	AEFDGBHCI	0.933487	0.92547	D	0.681731789145554	0.78438	6.87119	0.589490893212476	0.74183	6.094233	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	3.8	3.8	0.42887	8.380000	0.90038	7.776000	0.68567	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	11.962	0.52299	794	0.45591	.;Longin 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	1408.06	34	chr7	44201164	.	A	G	1408.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.121;DP=254;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=2.2;SOR=0.685	GT:AD:DP:GQ:PL	0/1:33,25:58:99:554,0,822	4	0	2	0
chr7	48644645	48644645	A	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon61:c.A14972G:p.H4991R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0143685405431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.841e-07	1.363e-06	0	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.002	0.79402	D	.	.	.	.	.	.	0.001136	0.40136	N	0.000000	0.630819	0.32788	D	.	.	.	-0.73	0.73100	T	-4.51	0.88289	D	0.371	0.41261	-0.3565	0.73366	T	0.360	0.72224	T	10	0.4666577	0.59611	T	0.014369	0.34441	T	0.400	0.71401	0.47	0.54376	0.570543898189	0.56720	0.1821970379992141	0.18138	0.0317804330332	0.03293	0.429568171501	0.29149	T	.	.	.	0.000132592	0.51673	T	-0.237586	0.51034	T	0.951683580875397	0.63617	D	0.564644	0.19916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.21803	B	.;.	.;.	2.464519	0.31755	18.84	0.99164989393106118	0.54212	0.62565	0.31820	D	AEFI	0.189362	0.31662	N	0.207574031732752	0.51565	3.336777	0.162231193951582	0.47794	3.004293	1.45620231453043E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	3.73	0.41982	1.561000	0.35950	5.029000	0.46811	0.733000	0.85838	0.631000	0.28008	0.978000	0.30204	0.998000	0.85391	0.9096:0.0:0.0904:0.0	8.591	0.32847	844	0.36711	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	940.06	39	chr7	48644645	.	A	G	940.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.364;DP=215;ExcessHet=0.4139;FS=5.311;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.242;SOR=0.341	GT:AD:DP:GQ:PL	0/1:25,22:47:99:488,0,645	4	0	2	0
chr7	70790590	70790590	-	CCA	exonic	AUTS2	.	nonframeshift insertion	AUTS2:NM_001127231:exon18:c.3302_3303insCCA:p.H1109_P1110insH,AUTS2:NM_015570:exon19:c.3374_3375insCCA:p.H1133_P1134insH	Mental retardation, autosomal dominant 26, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	360894	Autism_spectrum_disorder_due_to_AUTS2_deficiency|not_provided|Autism|Global_developmental_delay	MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0072	.	0.0098	0.0023	0.0036	0.0009	0.0004	0.0075	0.0166	0.0279	0.0003842	10	26028	rs1057518870	0.0084	0.0085	0.0077	0.0090	0.0268	0.0082	0.0082	0.0249	0.0246	0.0024	0.0058	0.0075	0.0014	0.0022	0.0268	0.0077	0.0091	0.0259	0.0062	0.0063	0.0063	0.0062	0.0265	0.0059	0.0058	0.0227	0.0213	0.0025	0.0066	0.0073	0.0061	0.0010	0.0018	0.0204	0.0078	0.0076	0.0265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2621.03	36	chr7	70790590	.	G	GCCA	2621.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.833;DP=341;ExcessHet=0.4139;FS=0.599;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=1.63;SOR=0.597	GT:AD:DP:GQ:PL	0/1:44,36:80:99:1367,0,1713	4	0	2	0
chr7	87908065	87908065	A	G	exonic	DBF4	.	nonsynonymous SNV	DBF4:NM_001318060:exon11:c.A1228G:p.I410V,DBF4:NM_001318061:exon12:c.A1255G:p.I419V,DBF4:NM_001318062:exon12:c.A1147G:p.I383V,DBF4:NM_006716:exon12:c.A1927G:p.I643V	.	432	1083	6	1	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00420445254734	0.0002	0.000199681	0.0002	0.0004	0.0006	0	0	0.0001	0	0.0005	0.0001811	28	154602	rs148580432	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0001	0.0009	3.829e-05	0	0	0.0026	0.0001	0.0007	0.0004	0.0003	0.0003	0.0003	0.0004	0.0018	0.0003	0.0002	0.0013	0.0011	0.0002	0	0.0018	0	0	0	0	0.0001	0.0028	0.0002	0.793	0.03175	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.805431	0.09291	N	0.908181	1	0.08975	N	1.5	0.37844	L	1.6	0.28604	T	-0.16	0.09460	N	0.049	0.02088	-0.9758	0.35948	T	0.035	0.15291	T	10	0.017714292	0.00380	T	0.004204	0.10121	T	0.018	0.03083	.	.	0.50315201076	0.49952	0.09300891952656395	0.09232	0.124736295977	0.14054	0.337535381317	0.16069	T	0.041188	0.25775	T	-0.548138	0.00299	T	-0.635552	0.09997	T	0.00614808607546244	0.00068	T	0.59824	0.22282	T	0.027566848	0.01966	0.021217456	0.00181	0.027566848	0.01966	0.021217456	0.00181	-3.456	0.15821	T	.	.	0.072	0.04198	B	.	.	-0.052647	0.03933	0.874	0.44758173714464644	0.03464	0.10615	0.16071	N	AEFGBCI	0.048460	0.08272	N	-0.844522520037764	0.12185	0.592409	-0.743961597808246	0.15871	0.8368487	0.443873367107901	0.20476	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.61	2.03	0.25714	0.029000	0.13555	0.308000	0.17052	0.756000	0.94297	0.001000	0.13787	0.006000	0.19429	0.922000	0.45779	0.5366:0.0:0.1303:0.3331	3.253	0.06418	541	0.72942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005056	0.017857	0.006849	0.000000	0.000000	0.000000	0.000000	0.004000	0.1667	2462.06	36	chr7	87908065	.	A	G	2462.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.02;DP=354;ExcessHet=0.4139;FS=5.065;MLEAC=2;MLEAF=0.167;MQ=58.2;MQRankSum=0.393;QD=11.89;ReadPosRankSum=0.053;SOR=1.061	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1423,0,1370	4	0	2	0
chr7	98233522	98233522	T	C	exonic	TECPR1	.	nonsynonymous SNV	TECPR1:NM_015395:exon11:c.A1571G:p.E524G	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0269962607334	.	.	7.321e-05	0	0	0.0006	0	4.144e-05	0	0	1.94e-05	3	154602	rs770214191	1.41e-05	1.71e-05	1.399e-05	1.421e-05	0.0004	9.21e-06	7.48e-06	0.0003	0.0002	0	0	4.215e-05	0.0004	0	0	2.742e-06	0	0	6.606e-06	6.58e-06	0	1.353e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.087	0.32453	T	0.013	0.63109	D	0.839	0.46454	P	0.218	0.37679	B	0.000001	0.62929	D	0.056109	0.999798	0.49177	D	2.125	0.59049	M	1.27	0.36146	T	-1.83	0.42957	N	0.283	0.32037	-0.9752	0.36082	T	0.099	0.36830	T	10	0.1337966	0.25464	T	0.026996	0.49857	D	0.100	0.28662	0.316	0.29258	0.538421760271	0.53494	0.5037388496278227	0.50295	0.341874215475	0.36132	0.391062915325	0.23819	T	0.029521	0.21136	T	-0.0817461	0.39431	T	-0.355199	0.38608	T	0.363624542951584	0.27550	T	0.791221	0.43226	T	0.18246144	0.39467	0.14865169	0.35131	0.18246144	0.39466	0.14865169	0.35130	-2.893	0.09074	T	.	.	0.097	0.15921	B	.	.	3.510658	0.49159	22.7	0.99816598087251229	0.89973	0.89212	0.49542	D	AEFDBCI	0.612314	0.60044	D	0.175439547549776	0.50021	3.196328	0.176596984750756	0.48568	3.070954	0.999998805336351	0.74766	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.7	4.7	0.58776	4.745000	0.61820	7.758000	0.68250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.427000	0.27384	0.0:0.0:0.0:1.0	13.340	0.59981	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	770.83	35	chr7	98233522	.	T	C	770.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.76;DP=210;ExcessHet=0;FS=1.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-0.046;SOR=0.922	GT:AD:DP:GQ:PL	0/1:18,27:45:99:781,0,398	5	0	1	0
chr7	99486688	99486688	C	G	exonic	ZNF789	.	nonsynonymous SNV	ZNF789:NM_001350999:exon4:c.C427G:p.L143V,ZNF789:NM_001351000:exon4:c.C364G:p.L122V,ZNF789:NM_213603:exon5:c.C478G:p.L160V,ZNF789:NM_001351002:exon6:c.C193G:p.L65V,ZNF789:NM_001351004:exon7:c.C193G:p.L65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00818199257693	0.0002	0.00139776	0.0005	0	0.0002	0	0	2.997e-05	0	0.0036	0.0004657	72	154602	rs149797851	0.0002	0.0002	0.0001	0.0002	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0003	2.698e-06	0.0004	0.0028	0.0002	0.0002	8.993e-05	0.0002	0.0048	0.0001	9.234e-05	0.0033	0.0028	2.407e-05	0	0	0	0	0	0	0	0	0.0048	0.082	0.33254	T	0.026	0.55759	D	0.421	0.35387	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	3.485	0.92608	M	1.78	0.25678	T	-2.03	0.46673	N	0.189	0.20660	-1.0051	0.28427	T	0.077	0.30676	T	9	0.005666554	0.00126	T	0.008182	0.21674	T	0.089	0.25827	.	.	0.319402600006	0.31557	0.0377106145453577	0.03717	0.663473762055	0.59019	0.241172775626	0.02897	T	0.012471	0.10959	T	-0.530337	0.00382	T	-0.53699	0.18594	T	0.148247098624436	0.16963	T	0.672833	0.28129	T	0.08001302	0.18310	0.07510658	0.16499	0.08001302	0.18309	0.07510658	0.16498	-5.333	0.40268	T	.	.	0.086	0.10883	B	.	.	0.942930	0.13185	9.688	0.98540850482266951	0.42719	0.19254	0.20589	N	AEFBI	0.073357	0.14670	N	-0.548290189108639	0.20538	1.083381	-0.742190024169473	0.15913	0.8393589	7.31721267367893E-5	0.04552	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	3.09	-0.121	0.12875	0.355000	0.19902	-0.003000	0.13174	-0.274000	0.06627	0.002000	0.15269	0.000000	0.08366	0.353000	0.25727	0.0:0.526:0.0:0.474	6.164	0.19594	331	0.86429	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2712.06	33	chr7	99486688	.	C	G	2712.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.017;DP=367;ExcessHet=0.4139;FS=0.484;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=2.03;SOR=0.736	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1603,0,1923	4	0	2	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	2118.86	96	chr7	100175805	.	G	C	2118.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.196;DP=445;ExcessHet=6.1542;FS=481.35;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=1.46;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,25:89:99:0|1:100175805_G_C:420,0,2264:100175805	0	0	5	1
chr7	100314556	100314556	C	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon6:c.C1007T:p.P336L	.	587	933	0	2	0	4	0.00213904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.00219649	0.0016	0	0.0004	0	0	0.0001	0	0.0101	0.0007244	112	154602	rs185181307	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	6.932e-05	0	0	0	0.0006	2.291e-05	0.0006	0.0058	0.0003	0.0003	0.0001	0.0005	0.0090	0.0002	0.0002	0.0067	0.0059	5.806e-05	0	0	0	0	0	0	0	0	0.0090	0.292	0.14894	T	0.247	0.23914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	-2.2	0.49519	N	0.071	0.04426	-1.0080	0.27541	T	0.052	0.22076	T	4	0.005325198	0.00117	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.010637752304975092	0.01024	1.47686996324	0.86643	.	.	.	0.029378	0.21062	T	-0.531388	0.00377	T	-0.534021	0.18886	T	0.037379401505994	0.03223	T	0.130787	0.01031	T	0.05646106	0.11112	0.12803924	0.30810	0.05646106	0.11112	0.12803924	0.30810	-10.428	0.76432	D	.	.	0.187	0.40344	B	.	.	0.967640	0.13443	9.954	0.25846354168856783	0.01211	0.03055	0.07955	N	AEFI	0.036323	0.04822	N	-0.741398034514801	0.14869	0.7443482	-0.90416226674536	0.11995	0.6145253	1.10530146109008E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.632000	0.24273	-8.038000	0.01039	.	.	0.998000	0.41325	0.000000	0.08366	.	.	.	.	.	266	0.89551	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1243.93	21	chr7	100314556	.	C	T	1243.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.154;DP=181;ExcessHet=0.5115;FS=2.611;MLEAC=2;MLEAF=0.2;MQ=37.23;MQRankSum=2.21;QD=11.74;ReadPosRankSum=1.67;SOR=0.452	GT:AD:DP:GQ:PL	0/1:20,25:45:99:501,0,422	3	0	2	1
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1519.29	59	chr7	100773851	.	A	*	1519.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=392;ExcessHet=0.7136;FS=2.532;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=-1.128;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,28:77:99:0|1:100773849_CCAT_C:1028,0,1932:100773849	2	2	2	0
chr7	100884215	100884215	G	T	exonic	SRRT	.	nonsynonymous SNV	SRRT:NM_001128852:exon6:c.G733T:p.A245S,SRRT:NM_001128853:exon6:c.G733T:p.A245S,SRRT:NM_001128854:exon6:c.G733T:p.A245S,SRRT:NM_015908:exon6:c.G733T:p.A245S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00697921788641	7.7e-05	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs140988239	4.104e-06	4.104e-06	1.361e-06	6.875e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	4.967e-05	2.319e-05	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.613	0.07691	T	0.728	0.43887	P	0.219	0.41976	B	0.004680	0.33505	N	0.236882	0.997959	0.44355	D	1.475	0.37068	L	.	.	.	.	.	.	0.589	0.60918	-1.0320	0.19809	T	0.116	0.40919	T	9	0.19313142	0.35070	T	0.006979	0.18485	T	.	.	.	.	0.102598925029	0.09809	0.27600257055637706	0.27513	.	.	0.534827649593	0.43714	T	0.136977	0.46965	T	-0.0789774	0.39881	T	-0.351222	0.39065	T	0.282814856540149	0.24289	T	0.753825	0.37593	T	0.16566214	0.36852	0.08929064	0.20871	0.16566214	0.36852	0.08929064	0.20870	-4.113	0.25584	T	.	.	0.088	0.12418	B	.;.;.;.	.;.;.;.	3.474684	0.48488	22.6	0.99231700228971098	0.56246	0.91040	0.52743	D	AEFDBCI	0.558232	0.56754	D	0.102547363591978	0.46580	2.896312	0.176393511416609	0.48556	3.069993	0.999999092541205	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.06	4.06	0.46572	3.895000	0.55971	7.537000	0.60015	0.618000	0.50648	0.992000	0.37556	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	11.928	0.52113	692	0.58729	.;.;.;SERRATE/Ars2, 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	.	.	.	.	.	.	.	.	0.1667	2451.06	45	chr7	100884215	.	G	T	2451.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.008;DP=349;ExcessHet=0.4139;FS=1.742;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.839;SOR=0.562	GT:AD:DP:GQ:PL	0/1:41,55:96:99:1405,0,1163	4	0	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	161.04	564	chr7	100952945	.	C	*	161.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.413;DP=3234;ExcessHet=11.5949;FS=1.131;MLEAC=5;MLEAF=0.417;MQ=57.61;MQRankSum=-6.949;QD=0.05;ReadPosRankSum=2.07;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:409,119:592:99:0|1:100952942_T_G:3766,0,16816:100952942	1	0	5	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12083.3	432	chr7	100953156	.	C	*	12083.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.79;DP=2629;ExcessHet=6.1542;FS=9.412;MLEAC=6;MLEAF=0.5;MQ=57.38;MQRankSum=-13.85;QD=4.61;ReadPosRankSum=0.526;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,112:533:99:0|1:100953098_G_C:3610,0,14905:100953098	0	0	6	0
chr7	100994359	100994359	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G3796A:p.V1266I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00658461216505	.	0.000199681	0.0006	0	0	0	0	0	0	0.0014	3.84e-05	1	26028	rs569676301	0.0003	0.0006	0.0001	0.0004	0.0033	0.0002	0.0002	0.0029	0.0028	0	0.0002	6.778e-05	0	0	0.0004	3.808e-05	0.0001	0.0033	2.005e-05	0.0001	0	4.159e-05	0.0001	0	0	.	.	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.085	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.76	0.11515	T	-0.26	0.11185	N	0.092	0.09066	-0.9616	0.38877	T	0.013	0.05081	T	7	0.008494794	0.00192	T	0.006585	0.17358	T	0.014	0.01968	0.15	0.05339	0.0138822411134	0.00435	0.0011260988011681033	0.00103	.	.	0.547454237938	0.45498	T	0.00352	0.02930	T	-0.361631	0.04039	T	-0.757234	0.03212	T	0.0116841371343507	0.00179	T	0.365963	0.08520	T	0.045228884	0.07368	0.06385276	0.12709	0.045228884	0.07368	0.06385276	0.12709	-5.669	0.45085	T	.	.	0.153	0.34711	B	.;.	.;.	-0.223068	0.02976	0.444	0.42846047119387515	0.03186	0.00083	0.00561	N	AEFI	0.028427	0.02501	N	-0.927504170881533	0.10203	0.4864205	-1.09601634957574	0.07778	0.3796968	1.29810242774381E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-1.880000	0.01719	-8.641000	0.00936	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3321:0.0:0.6678:0.0	3.071	0.05853	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	179.34	59	chr7	100994359	.	G	A	179.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.83;DP=105;ExcessHet=0;FS=15.563;MLEAC=2;MLEAF=0.167;MQ=25.85;MQRankSum=0.967;QD=19.93;ReadPosRankSum=-0.842;SOR=4.161	GT:AD:DP:GQ:PL	0/1:2,4:6:40:103,0,40	4	1	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5911.96	133	chr7	105613788	.	C	T	5911.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.57;DP=523;ExcessHet=3.1439;FS=1.103;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.749;SOR=0.803	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1639,0,1784	2	0	4	0
chr7	107298193	107298193	T	C	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon5:c.A548G:p.H183R,COG5:NM_001379515:exon7:c.A692G:p.H231R,COG5:NM_001161520:exon12:c.A1262G:p.H421R,COG5:NM_001379511:exon12:c.A1262G:p.H421R,COG5:NM_001379512:exon12:c.A1262G:p.H421R,COG5:NM_001379513:exon12:c.A1262G:p.H421R,COG5:NM_001379514:exon12:c.A1262G:p.H421R,COG5:NM_006348:exon12:c.A1262G:p.H421R,COG5:NM_181733:exon12:c.A1262G:p.H421R	Congenital disorder of glycosylation, type IIi	8	1477	34	3	0	40	0.0133601	.	.	.	309238	not_provided|COG5-congenital_disorder_of_glycosylation|COG5-related_disorder	MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	.	0.0032	0.00359425	0.0034	0.0008	0.0021	0	0.0008	0.0044	0.0088	0.0046	0.0033635	520	154602	rs35393416	0.0039	0.0040	0.0038	0.0041	0.0184	0.0039	0.0038	0.0156	0.0145	0.0005	0.0024	0.0031	2.524e-05	0.0014	0.0184	0.0042	0.0048	0.0049	0.0028	0.0028	0.0030	0.0026	0.0046	0.0026	0.0025	0.0042	0.0040	0.0006	0	0.0027	0.0037	0	0.0004	0.0102	0.0046	0.0038	0.0041	0.345	0.15303	T	0.374	0.16280	T	0.006	0.15535	B	0.01	0.19966	B	0.045775	0.23504	N	0.497022	1	0.08975	N	0.895	0.22405	L	0.67	0.52187	T	-0.68	0.19720	N	0.306	0.34552	-1.0478	0.15016	T	0.057	0.23791	T	10	0.0037671328	0.00070	T	.	.	.	0.043	0.11576	.	.	0.526539220858	0.52300	0.28366215763521374	0.28279	0.0637909203938	0.07108	0.374383628368	0.21458	T	0.004263	0.03670	T	-0.512833	0.00484	T	-0.508472	0.21472	T	0.0047717878686339	0.00051	T	0.633837	0.24812	T	0.04289514	0.06590	0.047563996	0.06880	0.03286603	0.03394	0.04435043	0.05725	-2.74	0.08028	T	.	.	0.073	0.05623	B	.;.;.	.;.;.	1.314671	0.17179	13.01	0.65716210919453166	0.07851	0.43873	0.27194	N	AEFGI	0.123842	0.23963	N	-0.794909827317595	0.13442	0.6622209	-0.697013875268555	0.17035	0.903974	0.826393147105066	0.24614	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.633917	0.49826	0	.	.	5.68	4.52	0.54797	1.859000	0.39058	3.534000	0.38969	-0.128000	0.13240	0.744000	0.29069	1.000000	0.68203	0.884000	0.42379	0.1327:0.0:0.1391:0.7282	8.252	0.30891	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	0.013092	0.020202	0.005435	0.005848	0.000000	0.025862	0.030488	0.011364	0.08333	851.83	34	chr7	107298193	.	T	C	851.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.18;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.38;SOR=0.787	GT:AD:DP:GQ:PL	0/1:49,39:88:99:862,0,1103	5	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	0.25	419.71	216	chr7	128479325	.	T	C	419.71	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.1;DP=985;ExcessHet=0.4139;FS=71.433;MLEAC=2;MLEAF=0.25;MQ=58.11;MQRankSum=-11.35;QD=1.16;ReadPosRankSum=-1.886;SOR=5.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,14:174:93:0|1:128479325_T_C:93,0,6668:128479325	2	0	2	2
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	0.3333	421.99	220	chr7	128479326	.	G	C	421.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.47;DP=994;ExcessHet=0.4139;FS=71.433;MLEAC=3;MLEAF=0.5;MQ=58.17;MQRankSum=-11.35;QD=1.17;ReadPosRankSum=-2.163;SOR=5.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,14:174:93:0|1:128479325_T_C:93,0,6668:128479325	1	0	2	3
chr7	128801491	128801491	G	C	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_001367766:exon4:c.G652C:p.D218H,CCDC136:NM_022742:exon4:c.G652C:p.D218H,CCDC136:NM_001363423:exon5:c.G802C:p.D268H,CCDC136:NM_001367761:exon5:c.G802C:p.D268H,CCDC136:NM_001367763:exon5:c.G802C:p.D268H,CCDC136:NM_001367764:exon5:c.G802C:p.D268H,CCDC136:NM_001367765:exon5:c.G652C:p.D218H	.	430	1075	17	0	0	17	0.00784495	.	.	.	722297	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0061	0.0175719	0.0086	0.0187	0.0010	0.0180	0	0.0006	0.0083	0.0434	0.0065911	1019	154602	rs3816887	0.0042	0.0042	0.0035	0.0049	0.0450	0.0041	0.0041	0.0432	0.0425	0.0184	0.0011	0	0.0450	0	0.0047	0.0006	0.0058	0.0316	0.0073	0.0073	0.0070	0.0075	0.0307	0.0069	0.0068	0.0267	0.0252	0.0176	0	0.0023	0	0.0256	0	0.0034	0.0006	0.0076	0.0307	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.016592	0.27938	N	0.378359	0.991609	0.81001	D	2.25	0.63811	M	0.65	0.52642	T	-3.74	0.71042	D	0.313	0.41360	-0.6589	0.62324	T	0.154	0.48498	T	10	0.0025648475	0.00039	T	.	.	.	0.207	0.49555	.	.	0.696379046619	0.69376	0.3067353743971076	0.30586	0.496329302789	0.48146	0.486578851938	0.36964	T	0.208313	0.56821	T	-0.389463	0.02712	T	-0.273861	0.47429	T	0.0338218511450709	0.02608	T	0.859714	0.55187	D	0.23389378	0.46201	0.2656385	0.52399	0.23389378	0.46201	0.2656385	0.52398	-5.717	0.43845	T	.	.	0.187	0.63400	B	.;.;.	.;.;.	4.352545	0.66859	25.0	0.99605062895104857	0.74456	0.94620	0.61762	D	AEFBI	0.179148	0.30643	N	0.299725175590207	0.56136	3.777826	0.331342929804048	0.57388	3.904544	0.999485182318206	0.39952	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.24	5.24	0.72863	2.469000	0.44768	8.480000	0.77297	0.656000	0.54149	0.757000	0.29209	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	14.327	0.66086	682	0.59757	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.020202	0.010870	0.002924	0.000000	0.025862	0.006098	0.015152	0.08333	769.83	34	chr7	128801491	.	G	C	769.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.335;DP=236;ExcessHet=0;FS=1.069;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=2.09;SOR=0.914	GT:AD:DP:GQ:PL	0/1:31,29:60:99:780,0,886	5	0	1	0
chr7	128814812	128814812	G	A	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon15:c.G2938A:p.G980R,CCDC136:NM_001367764:exon16:c.G3088A:p.G1030R	.	422	1082	17	1	0	19	0.00870362	.	.	.	722299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0061	0.0175719	0.0090	0.0197	0.0011	0.0193	0	0.0006	0.0083	0.0392	0.0066623	1030	154602	rs61730174	0.0042	0.0042	0.0035	0.0049	0.0452	0.0041	0.0041	0.0435	0.0428	0.0184	0.0011	0	0.0452	0	0.0047	0.0006	0.0058	0.0317	0.0072	0.0073	0.0070	0.0075	0.0309	0.0069	0.0067	0.0268	0.0253	0.0174	0	0.0022	0	0.0262	0	0.0034	0.0006	0.0076	0.0309	0.0	0.91255	D	0.142	0.33330	T	0.964	0.55854	D	0.815	0.58847	P	0.080158	0.20942	N	0.452827	1	0.08975	N	1.985	0.53793	M	1.21	0.37230	T	-2.13	0.48354	N	0.233	0.26233	-1.0832	0.06739	T	0.060	0.24945	T	10	0.0051091015	0.00111	T	.	.	.	0.062	0.17934	0.211	0.12923	0.404870348458	0.40103	0.08580872038638879	0.08514	0.444185373145	0.44332	0.496919095516	0.38398	T	0.038966	0.25026	T	-0.50508	0.00535	T	-0.439937	0.28815	T	0.0251534494830934	0.01293	T	0.773423	0.40508	T	0.26113153	0.49171	0.2761146	0.53554	0.26113153	0.49171	0.2761146	0.53553	-3.166	0.12070	T	.	.	0.358	0.57091	A	.	.	3.390886	0.46947	22.4	0.99875371713305283	0.95244	0.12477	0.17293	N	AEFBIJ	0.068515	0.13520	N	0.00958660321674754	0.42290	2.545313	-0.143344922568454	0.33665	1.928128	0.882952491301515	0.25663	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	5.64	2.7	0.31007	2.197000	0.42329	3.990000	0.40980	0.662000	0.56354	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0844:0.0:0.5945:0.3211	6.432	0.21007	679	0.60090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.020202	0.012228	0.002924	0.000000	0.025862	0.009146	0.015152	0.08333	1253.83	34	chr7	128814812	.	G	A	1253.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.528;DP=262;ExcessHet=0;FS=1.751;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.088;SOR=0.946	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1264,0,921	5	0	1	0
chr7	128840575	128840575	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon10:c.G1577A:p.R526Q,FLNC:NM_001458:exon10:c.G1577A:p.R526Q	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	1502	20	0	0	20	0.00661376	.	.	.	190795	not_specified|not_provided|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.199	.	0.0014	0.00299521	0.0023	0.0010	0.0007	0	0	0.0012	0.0011	0.0108	0.0021927	339	154602	rs34932223	0.0022	0.0022	0.0019	0.0025	0.0096	0.0021	0.0021	0.0091	0.0089	0.0012	0.0016	0	0	0.0001	0.0016	0.0019	0.0020	0.0096	0.0016	0.0016	0.0017	0.0015	0.0085	0.0014	0.0014	0.0064	0.0057	0.0008	0	0.0020	0	0	0.0006	0	0.0019	0.0009	0.0085	0.044	0.41096	D	0.245	0.24054	T	0.027	0.19556	B	0.015	0.17295	B	0.241004	0.15711	N	0.620373	1	0.08975	N	1.135	0.28956	L	-1.84	0.84195	D	-1.35	0.33598	N	0.314	0.36359	-0.6014	0.64759	T	0.389	0.74394	T	10	0.0068624616	0.00156	T	.	.	.	0.199	0.48268	.	.	0.426039362998	0.42221	0.32783013417972684	0.32696	0.319035525961	0.34116	0.35458356142	0.18594	T	0.357542	0.72423	T	-0.402556	0.02228	T	-0.343059	0.39998	T	0.00742864542466097	0.00086	T	0.836416	0.50788	T	0.04008348	0.05657	0.059511866	0.11181	0.041022338	0.05964	0.059008688	0.11001	-5.347	0.40406	T	0.1896189704614919	0.24810	0.076	0.07793	B	.;.	.;.	2.499507	0.32263	18.99	0.99504341911348548	0.68206	0.21797	0.21527	N	AEFDBHCI	0.101347	0.20358	N	-0.719623274724168	0.15470	0.7799423	-0.611670608056233	0.19194	1.028686	0.999994398205015	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	5.29	4.41	0.52588	0.487000	0.22064	5.217000	0.47986	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.763000	0.36255	0.1663:0.0:0.8337:0.0	10.703	0.45131	626	0.65439	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	813.83	36	chr7	128840575	.	G	A	813.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=234;ExcessHet=0;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.463;SOR=0.85	GT:AD:DP:GQ:PL	0/1:34,29:63:99:824,0,902	5	0	1	0
chr7	128878637	128878637	T	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon38:c.A4232T:p.N1411I	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.00119808	0.0021	0.0005	0	0	0.0068	0.0022	0	0.0018	0.0007633	118	154602	rs191095949	0.0031	0.0030	0.0031	0.0031	0.0034	0.0030	0.0030	0.0033	0.0033	0.0008	0.0018	0.0012	2.798e-05	0.0051	0.0005	0.0034	0.0021	0.0025	0.0025	0.0025	0.0025	0.0026	0.0035	0.0023	0.0022	0.0031	0.0030	0.0006	0	0.0022	0.0020	0	0.0064	0	0.0035	0.0014	0.0019	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.867	0.86404	.	.	.	.	.	.	.	0.040703982	0.02661	T	.	.	.	.	.	.	.	0.335414705075	0.33150	0.8077449840177505	0.80729	.	.	0.465006321669	0.33996	T	0.373505	0.73887	T	0.0260081	0.55189	T	0.268308	0.86483	D	.	.	.	0.906109	0.67676	D	0.36454192	0.58179	0.50223315	0.71225	0.36454192	0.58179	0.50223315	0.71226	-13.162	0.90019	D	.	.	0.934	0.85575	P	.;.;.	.;.;.	4.451128	0.69188	25.3	0.7968484101949409	0.12853	0.93609	0.58687	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999995302288442	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.129117	0.03641	0	0.058706	0.01089	0	0.795994	0.47091	4.94	3.78	0.42629	3.014000	0.49278	6.130000	0.53904	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.088:0.0:0.912	9.309	0.37055	567	0.70732	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002242	0.000000	0.000000	0.000000	0.000000	0.062500	0.000000	0.000000	0.08333	896.83	35	chr7	128878637	.	T	A	896.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.686;SOR=0.66	GT:AD:DP:GQ:PL	0/1:43,38:81:99:907,0,1067	5	0	1	0
chr7	128891726	128891726	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon17:c.C1715T:p.A572V,KCP:NM_199349:exon17:c.C1715T:p.A572V	.	394	1112	15	1	0	17	0.0075859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0113818	0.0044	0	0	0	0	0.0005	0	0.0764	0.0010996	170	154602	rs372463038	0.0023	0.0022	0.0014	0.0031	0.0399	0.0022	0.0022	0.0386	0.0381	0.0004	0.0006	0.0004	5.856e-05	4.599e-05	0.0006	0.0002	0.0032	0.0399	0.0014	0.0015	0.0007	0.0022	0.0386	0.0013	0.0012	0.0341	0.0323	0.0003	0	0.0003	0.0009	0.0004	9.418e-05	0	0.0002	0	0.0386	.	.	.	0.96	0.02548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0020279884	0.00029	T	.	.	.	.	.	.	.	0.188950314367	0.18478	0.07746613131127543	0.07682	.	.	0.386530011892	0.23179	T	0.001831	0.13584	T	-0.412221	0.01921	T	-0.330595	0.41403	T	.	.	.	0.609039	0.26417	T	0.028721679	0.02252	0.12166932	0.29356	0.028721679	0.02252	0.12166932	0.29355	-5.772	0.44330	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.089865	0.14734	11.28	0.85936422183728112	0.16207	0.03648	0.08900	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.990920462793359	0.32314	0.206829	0.04106	0	0.096583	0.02683	0	0.209056	0.04548	0	0.109499	0.03221	0	0.0549606	0.12632	4.96	1.09	0.19517	0.538000	0.22869	4.418000	0.43305	-0.712000	0.03928	0.001000	0.13787	1.000000	0.68203	0.318000	0.24924	0.4436:0.0:0.5564:0.0	7.155	0.24808	545	0.72614	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|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	0.005636	0.005208	0.000000	0.000000	0.000000	0.016667	0.008475	0.021429	0.08333	753.83	41	chr7	128891726	.	G	A	753.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.517;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.688;SOR=0.656	GT:AD:DP:GQ:PL	0/1:24,29:53:99:764,0,644	5	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V,KCP:NM_199349:exon13:c.C1244T:p.A415V	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;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	0.003021	0.000000	0.000000	0.003597	0.000000	0.000000	0.004132	0.035211	0.1667	1566.06	36	chr7	128893261	.	G	A	1566.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.75;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.918;SOR=0.73	GT:AD:DP:GQ:PL	0/1:29,36:65:99:985,0,878	4	0	2	0
chr7	138861200	138861200	C	T	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon16:c.G5186A:p.R1729K,KIAA1549:NM_020910:exon16:c.G5186A:p.R1729K	.	428	1084	9	1	0	11	0.00504819	.	.	.	699872	not_provided|Retinal_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0006	0.0171725	0.0070	0.0009	0.0004	0.0819	0	0.0005	0.0057	0.0048	0.0065976	1020	154602	rs60797311	0.0037	0.0037	0.0037	0.0037	0.1084	0.0037	0.0036	0.1057	0.1046	0.0005	0.0002	0.0008	0.1084	1.875e-05	0.0007	0.0005	0.0047	0.0039	0.0036	0.0037	0.0032	0.0040	0.0865	0.0034	0.0033	0.0799	0.0773	0.0005	0	0.0004	0.0003	0.0865	0	0	0.0005	0.0024	0.0081	0.0	0.91255	D	0.056	0.46632	T	0.998	0.73220	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.981912	0.25003	N	2.555	0.74557	M	1.57	0.29342	T	-2.53	0.54864	D	0.254	0.29313	-1.1777	0.00404	T	0.008	0.02760	T	10	0.0020601153	0.00029	T	.	.	.	0.101	0.28911	.	.	0.102598925029	0.09809	0.42286415317929255	0.42203	0.114385035191	0.12898	0.607154250145	0.53914	T	0.045276	0.27071	T	-0.565342	0.00236	T	-0.442574	0.28521	T	0.0547285410811422	0.06312	T	0.554844	0.19218	T	0.6722069	0.76551	0.639483	0.78942	0.68491256	0.77236	0.639483	0.78943	-5.278	0.39724	T	.	.	0.088	0.11654	B	.;.	.;.	2.810104	0.36988	20.4	0.99681477322606815	0.79307	0.38639	0.26033	N	AEFDBI	0.172097	0.29911	N	0.207632665557396	0.51568	3.337048	0.0862243917042879	0.43854	2.678654	0.930851908500628	0.27024	0.626454	0.40138	0	0.588015	0.36545	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	4.6	3.72	0.41857	0.976000	0.29059	5.935000	0.51384	0.595000	0.32841	0.043000	0.21118	1.000000	0.68203	0.844000	0.39860	0.1477:0.7715:0.0:0.0808	8.895	0.34617	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.08333	1275.83	34	chr7	138861200	.	C	T	1275.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.491;DP=271;ExcessHet=0;FS=6.506;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=1.95;SOR=0.536	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1286,0,1476	5	0	1	0
chr7	140020029	140020029	C	T	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon12:c.C1349T:p.P450L,TBXAS1:NM_030984:exon12:c.C1369T:p.R457C,TBXAS1:NM_001061:exon13:c.C1532T:p.P511L,TBXAS1:NM_001314028:exon13:c.C1475T:p.P492L,TBXAS1:NM_001166253:exon14:c.C1670T:p.P557L,TBXAS1:NM_001166254:exon15:c.C1331T:p.P444L,TBXAS1:NM_001130966:exon17:c.C1532T:p.P511L	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	1609537	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.321	.	0.0005	0.0183706	0.0071	0.0017	8.643e-05	0.0897	0.0036	0.0001	0.0022	0.0018	0.0065394	1011	154602	rs13306050	0.0024	0.0024	0.0025	0.0024	0.0728	0.0024	0.0023	0.0706	0.0697	0.0015	0.0002	0.0003	0.0728	0.0036	0	4.857e-05	0.0033	0.0016	0.0038	0.0038	0.0034	0.0042	0.0854	0.0035	0.0034	0.0789	0.0763	0.0015	0	0.0006	0	0.0854	0.0015	0	0.0001	0.0047	0.0058	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.48	0.70249	T	-9.36	0.98352	D	0.767	0.76481	-0.5676	0.66111	T	0.048	0.20395	T	10	0.005150974	0.00112	T	.	.	.	0.631	0.85821	.	.	0.908992176636	0.90808	0.5583692594375584	0.55763	0.563864899542	0.52805	0.489147573709	0.37320	T	0.083382	0.37042	T	-0.165641	0.25897	T	0.0587097	0.74159	D	0.10641807298129	0.13049	T	0.928507	0.73679	D	.	.	.	.	.	.	.	.	-11.604	0.82869	D	.	.	0.420	0.60646	A	.;.;.;.;.	.;.;.;.;.	5.250729	0.88155	29.5	0.9984492287373915	0.92489	0.97225	0.73430	D	AEFBI	0.800871	0.72673	D	0.685126872175678	0.78659	6.916077	0.648669992251971	0.78511	6.891135	0.99999966343216	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.664235	0.64389	0	.	.	5.42	5.42	0.78666	5.939000	0.69894	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	17.761	0.88373	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	604.83	38	chr7	140020029	.	C	T	604.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.554;DP=231;ExcessHet=0;FS=3.91;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.427;SOR=0.314	GT:AD:DP:GQ:PL	0/1:27,26:53:99:615,0,753	5	0	1	0
chr7	143876443	143876443	G	A	exonic	TCAF1	.	nonsynonymous SNV	TCAF1:NM_001206938:exon2:c.C166T:p.R56C,TCAF1:NM_014719:exon2:c.C166T:p.R56C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0191179172707	.	.	8.536e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs774779542	4.804e-06	6.156e-06	6.827e-06	2.76e-06	5.039e-05	2e-06	1.29e-06	8.35e-06	3.12e-06	0	0	3.905e-05	5.039e-05	0	0	1.802e-06	0	2.342e-05	6.571e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.042	0.78490	D	0.008	0.67890	D	0.998	0.73220	D	0.786	0.57542	P	0.015219	0.28310	N	0.292911	0.999032	0.45921	D	.	.	.	1.94	0.22678	T	-3.33	0.83763	D	0.537	0.56833	-1.0865	0.06138	T	0.083	0.32671	T	10	0.31102324	0.48575	T	0.019118	0.41395	T	0.156	0.40720	0.519	0.62066	0.276898752692	0.27294	0.5926767897173779	0.59197	0.290619426683	0.31473	0.384252339602	0.22858	T	0.102291	0.46157	T	-0.141804	0.29604	T	-0.215767	0.53143	T	0.840448319911957	0.49364	D	0.937906	0.86380	D	0.13664491	0.31669	0.116094865	0.28026	0.13664491	0.31668	0.116094865	0.28025	-6.637	0.51335	T	.	.	0.098	0.22500	B	.;.;.;.;.;.	.;.;.;.;.;.	4.304723	0.65759	24.9	0.99882814021748312	0.95892	0.50722	0.28729	D	AEFBI	0.306379	0.41354	N	0.16290446202253	0.49424	3.143041	0.050132547332433	0.42077	2.538895	0.999936363997837	0.46732	0.758104	0.99027	0	0.633656	0.55848	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.01	3.09	0.34677	1.607000	0.36447	4.910000	0.45943	0.618000	0.50648	0.380000	0.26006	1.000000	0.68203	0.621000	0.31922	0.0:0.0:0.578:0.422	8.955	0.34974	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	.	.	.	.	.	.	.	.	0.08333	1751.83	33	chr7	143876443	.	G	A	1751.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.62;DP=301;ExcessHet=0;FS=2.188;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.098;SOR=0.772	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1762,0,1592	5	0	1	0
chr7	144232351	144232351	G	C	exonic	OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.C493G:p.L165V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0032322132768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	.	.	.	.	.	.	0.024822	0.26194	U	0.000000	1	0.81001	D	.	.	.	8.3	0.00261	T	-2.68	0.57275	D	0.519	0.54932	-0.9524	0.40555	T	0.001	0.00378	T	9	0.24370903	0.41590	T	0.003232	0.07117	T	0.062	0.17934	0.506	0.60078	0.20808081866	0.20439	0.04378174034092069	0.04322	.	.	0.369973540306	0.20828	T	.	.	.	-0.244797	0.14743	T	-0.589411	0.13717	T	0.818839907646179	0.47685	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.665412	0.34737	19.71	0.99595206584388074	0.73866	0.37204	0.25708	N	AEFGI	.	.	.	-0.352599497614675	0.27177	1.488973	-0.561611956953805	0.20498	1.104642	0.00154549063210378	0.08631	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.55	1.65	0.23015	0.256000	0.18120	-0.543000	0.08571	-0.378000	0.05405	0.050000	0.21411	0.000000	0.08366	0.496000	0.28927	0.1454:0.0:0.8546:0.0	7.160	0.24835	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	474.75	24	chr7	144232351	.	G	C	474.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.807;DP=113;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=26.69;MQRankSum=-1.234;QD=13.96;ReadPosRankSum=2.29;SOR=0.941	GT:AD:DP:GQ:PL	0/1:15,19:34:99:484,0,374	4	0	1	1
chr7	147044015	147044015	C	T	exonic	CNTNAP2	.	unknown	UNKNOWN	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	.	.	.	.	.	.	.	.	.	.	635850	not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.776	0.743037369054	7.7e-05	.	4.118e-05	0	8.637e-05	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs375032955	3.147e-05	3.147e-05	2.314e-05	3.988e-05	0.0003	2.412e-05	2.158e-05	6.092e-05	2.521e-05	0	8.944e-05	0	0	0	0.0003	3.327e-05	4.968e-05	0	5.257e-05	5.254e-05	5.14e-05	5.38e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	6.548e-05	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.91	0.64641	D	0.011600	0.29474	N	0.205057	0.61318	0.32639	D	3.03	0.86425	M	-4.86	0.98263	D	-5.65	0.86988	D	0.878	0.87590	1.063	0.98415	D	0.957	0.98612	D	10	0.93919224	0.93246	D	0.743037	0.97944	D	0.776	0.92501	.	.	0.921655970581	0.92086	0.5921860038201401	0.59148	0.553458847318	0.52117	0.259106755257	0.04785	T	0.893348	0.97851	D	0.119306	0.66303	D	0.125281	0.78583	D	0.859313607215881	0.50989	D	0.924807	0.72410	D	0.5249502	0.68543	0.3726928	0.62472	0.4613261	0.64754	0.34786832	0.60434	-12.257	0.86080	D	.	.	0.314	0.54071	B	.;.	.;.	4.959477	0.81993	27.7	0.99914222276497067	0.98309	0.95977	0.66979	D	AEFI	0.698999	0.65649	D	0.599252172019041	0.73129	5.915799	0.520470853961526	0.69370	5.350518	0.00669783986257984	0.11284	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	3.000000	0.49169	3.935000	0.40562	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.789000	0.37270	0.1621:0.8378:0.0:0.0	12.938	0.57722	946	0.12043	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2106.06	37	chr7	147044015	.	C	T	2106.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.18;DP=303;ExcessHet=0.4139;FS=1.974;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=2;SOR=0.886	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1009,0,664	4	0	2	0
chr7	150792109	150792109	C	G	exonic	TMEM176B	.	nonsynonymous SNV	TMEM176B:NM_001101314:exon5:c.G556C:p.V186L,TMEM176B:NM_001101311:exon6:c.G667C:p.V223L,TMEM176B:NM_001101312:exon6:c.G667C:p.V223L,TMEM176B:NM_014020:exon6:c.G667C:p.V223L,TMEM176B:NM_001362691:exon7:c.G715C:p.V239L,TMEM176B:NM_001362692:exon7:c.G715C:p.V239L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00338342571973	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs748680887	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.087	0.40747	T	0.019	0.17989	B	0.014	0.16862	B	0.061520	0.02146	N	2.427640	0.999998	0.08975	N	0.895	0.22405	L	4.48	0.02067	T	-1.18	0.30140	N	0.191	0.21056	-0.9487	0.41194	T	0.005	0.01688	T	10	0.15267116	0.28832	T	0.003383	0.07572	T	0.044	0.11924	0.496	0.58520	0.0920862733494	0.08535	0.20194187835753313	0.20111	0.0421810079997	0.04541	0.380210757256	0.22286	T	0.030183	0.21454	T	-0.322283	0.06712	T	-0.685227	0.06669	T	0.09103004539089	0.11340	T	0.475152	0.14192	T	0.068936415	0.15061	0.08737017	0.20305	0.068936415	0.15061	0.08737017	0.20304	-3.853	0.21599	T	.	.	0.132	0.32372	B	.;.;.;.;.;.	.;.;.;.;.;.	2.557268	0.33111	19.24	0.90065399135923163	0.19350	0.60282	0.31151	D	AEFGBIJ	0.370397	0.45678	N	-0.848076745814986	0.12097	0.5876317	-0.733840087328969	0.16120	0.8512582	0.957204245735505	0.28290	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.56	1.64	0.22949	0.781000	0.26435	1.868000	0.29368	-0.202000	0.08738	1.000000	0.71638	0.950000	0.28999	0.591000	0.31164	0.0:0.7124:0.0:0.2876	5.393	0.15554	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3188.06	33	chr7	150792109	.	C	G	3188.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.32;DP=424;ExcessHet=0.4139;FS=3.242;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.357;SOR=0.885	GT:AD:DP:GQ:PL	0/1:76,47:123:99:1295,0,2050	4	0	2	0
chr7	151149131	151149131	C	A	exonic	GBX1	.	nonsynonymous SNV	GBX1:NM_001098834:exon2:c.G550T:p.V184L	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0457042781483	.	.	0.0005	0	0	0	0	0.0003	0.0011	0.0023	0.0003816	59	154602	rs757031253	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	2.988e-05	6.714e-05	0	0	0.0001	0.0003	0.0001	0.0001	0.0018	0.0001	0.0001	0.0002	0.0001	0.0015	9.146e-05	7.702e-05	0.0007	0.0005	0	0	6.539e-05	0	0	0	0	0.0002	0	0.0015	0.33	0.13131	T	0.452	0.12884	T	0.002	0.09854	B	0.002	0.06944	B	0.009292	0.30429	U	0.138248	0.702407	0.30091	N	0.255	0.09829	N	-2.8	0.91076	D	-0.46	0.14978	N	0.042	0.01498	-0.3515	0.73510	T	0.468	0.79497	T	10	0.013121039	0.00279	T	0.045704	0.62109	D	0.186	0.46104	0.262	0.20631	0.856628854582	0.85525	0.07571174283375334	0.07507	0.730581440228	0.62714	0.709222316742	0.68481	T	0.004551	0.03958	T	-0.383473	0.02962	T	-0.330872	0.41371	T	0.0116305838423375	0.00177	T	0.814719	0.46890	T	0.1610981	0.36095	0.15739834	0.36806	0.1610981	0.36095	0.15739834	0.36805	-2.252	0.04300	T	.	.	0.127	0.26917	B	.	.	2.342138	0.30018	18.31	0.91668974463846697	0.20959	0.94115	0.60157	D	AEFDBCI	0.537092	0.55504	D	-0.25105940293182	0.31062	1.73799	-0.0204323576102625	0.38793	2.290655	0.999989098743945	0.51787	0.59774	0.34471	0	0.59043	0.45803	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.12	5.12	0.69459	2.829000	0.47830	4.866000	0.45518	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:0.8416:0.1584:0.0	13.325	0.59891	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	805.83	33	chr7	151149131	.	C	A	805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.976;DP=229;ExcessHet=0;FS=1.053;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.849;SOR=0.489	GT:AD:DP:GQ:PL	0/1:29,30:59:99:816,0,789	5	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	0.5	3604.55	165	chr7	152229940	.	A	G	3604.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.209;DP=1278;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=44.77;MQRankSum=0.622;QD=2.86;ReadPosRankSum=0.458;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,34:284:99:1|0:152229936_C_A:131,0,9051:152229936	0	0	6	0
chr8	1909390	1909390	G	A	exonic	ARHGEF10	.	nonsynonymous SNV	ARHGEF10:NM_001308152:exon17:c.G1949A:p.S650N,ARHGEF10:NM_014629:exon18:c.G2063A:p.S688N,ARHGEF10:NM_001308153:exon19:c.G2135A:p.S712N	.	0	1503	19	0	0	19	0.00628099	.	.	.	361190	not_provided|Autosomal_dominant_slowed_nerve_conduction_velocity|not_specified	MedGen:C3661900|MONDO:MONDO:0011998,MedGen:C1842357,OMIM:608236,Orphanet:140481|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00454202123999	0.0006	0.000399361	0.0008	9.614e-05	0.0015	0	0.0002	0.0011	0.0033	0.0007	0.0007827	121	154602	rs143290224	0.0006	0.0006	0.0006	0.0007	0.0135	0.0006	0.0006	0.0111	0.0102	0.0010	0.0019	0	0	3.75e-05	0.0135	0.0005	0.0016	0.0008	0.0008	0.0008	0.0008	0.0008	0.0043	0.0007	0.0006	0.0035	0.0032	0.0002	0	0.0043	0	0	0	0	0.0006	0.0024	0.0002	0.372	0.17014	T	0.374	0.16914	T	0.002	0.09854	B	0.013	0.16460	B	0.887705	0.07275	N	1.057830	1	0.08975	N	0.15	0.08895	N	2.23	0.18083	T	-0.8	0.22078	N	0.081	0.09914	-0.9764	0.35816	T	0.037	0.15770	T	10	0.0051074624	0.00111	T	0.004542	0.11189	T	0.077	0.22490	.	.	0.134241683229	0.13084	0.21262784305416427	0.21178	0.0324232225892	0.03388	0.353598922491	0.18450	T	0.028301	0.20534	T	-0.687676	0.00043	T	-0.767839	0.02839	T	0.0121567051769111	0.00194	T	.	.	.	0.029185459	0.02373	0.044929598	0.05932	0.03713525	0.04704	0.042660918	0.05131	-6.413	0.51068	T	.	.	0.076	0.05756	B	.;.;.;.;.	.;.;.;.;.	-0.158695	0.03307	0.574	0.78395020267440041	0.12282	0.14466	0.18418	N	AEFDBI	0.059294	0.11189	N	-1.33759350455826	0.03255	0.1450981	-1.4347312478848	0.02911	0.13482	0.980101808749081	0.30099	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.07	-5.54	0.02343	1.899000	0.39450	0.335000	0.17323	-0.633000	0.04490	0.029000	0.20367	0.000000	0.08366	0.000000	0.00833	0.1465:0.131:0.7225:0.0	12.370	0.54581	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.020202	0.024457	0.014620	0.000000	0.025862	0.009146	0.003788	0.1667	5635.06	78	chr8	1909390	.	G	A	5635.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.517;DP=689;ExcessHet=0.4139;FS=0.519;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=2.2;SOR=0.737	GT:AD:DP:GQ:PL	0/1:107,112:219:99:3054,0,3065	4	0	2	0
chr8	2001555	2001563	GGAGCCCGG	-	exonic	KBTBD11	.	nonframeshift deletion	KBTBD11:NM_014867:exon2:c.363_371del:p.G124_P126del	.	425	1085	12	0	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0.0179	0	.	0.0110	0	0.0016	0.0002305	6	26028	rs757999930	0.0027	0.0025	0.0027	0.0027	0.0098	0.0026	0.0026	0.0073	0.0064	0.0023	0.0020	0.0103	7.232e-05	0.0009	0.0098	0.0028	0.0030	0.0013	0.0031	0.0031	0.0034	0.0027	0.0040	0.0029	0.0028	0.0036	0.0034	0.0022	0.0044	0.0031	0.0104	0	0.0002	0.0070	0.0040	0.0033	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	142.8	17	chr8	2001554	.	AGGAGCCCGG	A	142.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.111;DP=68;ExcessHet=0;FS=4.771;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.8;ReadPosRankSum=0;SOR=3.258	GT:AD:DP:GQ:PL	0/1:2,4:6:72:153,0,72	5	0	1	0
chr8	2144794	2144794	C	T	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon37:c.C4211T:p.T1404I	.	429	1075	18	0	0	18	0.00830258	.	.	.	3203094	not_provided|MYOM2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.334	.	0.0008	0.00299521	0.0022	0	0.0012	0	0	0.0017	0.0011	0.0083	0.0019793	306	154602	rs147501499	0.0012	0.0012	0.0009	0.0014	0.0078	0.0011	0.0011	0.0068	0.0066	2.987e-05	0.0009	0.0127	2.519e-05	3.744e-05	0.0078	0.0005	0.0019	0.0073	0.0010	0.0010	0.0010	0.0011	0.0089	0.0009	0.0009	0.0068	0.0061	4.811e-05	0	0.0010	0.0144	0	0	0.0034	0.0006	0.0014	0.0089	0.001	0.78490	D	0.008	0.67890	D	.	.	.	.	.	.	0.000431	0.44522	D	0.222362	0.770511	0.34145	D	.	.	.	-0.37	0.68892	T	-4.76	0.80682	D	0.178	0.20262	-0.3595	0.73278	T	0.255	0.62507	T	10	0.012775004	0.00273	T	.	.	.	0.334	0.65620	.	.	0.637017290465	0.63403	0.5428526361877503	0.54210	0.0234488037338	0.02381	0.51453691721	0.40857	T	.	.	.	-0.217342	0.18358	T	-0.0799868	0.64904	T	0.117605831609702	0.14193	T	0.887111	0.61484	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.51832	B	.;.	.;.	3.091681	0.41634	21.4	0.99874652642255091	0.95160	0.87234	0.46712	D	AEFDBI	0.262618	0.38032	N	0.353223132316343	0.58908	4.066269	0.375473070259359	0.60055	4.189151	0.999999304954846	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.35	4.47	0.53770	2.997000	0.49145	2.731000	0.34388	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.7949:0.1336:0.0715	10.684	0.45026	970	0.06235	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.011364	0.08333	1727.83	34	chr8	2144794	.	C	T	1727.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.453;DP=364;ExcessHet=0;FS=0.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.915;SOR=0.776	GT:AD:DP:GQ:PL	0/1:107,66:173:99:1738,0,3061	5	0	1	0
chr8	4032073	4032073	G	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon4:c.C442T:p.P148S	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.45715590753	.	0.000599042	0.0004	0	0	0	0	0	0	0.0029	0.0003299	51	154602	rs548910975	0.0002	0.0002	8.718e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0005	2.7e-06	0.0002	0.0026	4.597e-05	4.593e-05	3.856e-05	5.372e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000209	0.47681	U	0.000000	0.999985	0.54805	D	4.285	0.98199	H	-1.86	0.84341	D	-3.56	0.68880	D	0.881	0.88798	1.012	0.97391	D	0.869	0.95644	D	10	0.107593685	0.19992	T	0.457156	0.94447	D	0.759	0.91795	0.727	0.86111	0.876043322735	0.87483	0.36456096716508907	0.36370	.	.	0.771998405457	0.77724	T	0.044042	0.50720	T	-0.0534068	0.43929	T	0.146205	0.79945	D	0.368579609851239	0.27743	T	0.987401	0.95706	D	0.21455787	0.43865	0.23599079	0.48858	0.21455787	0.43865	0.23599079	0.48857	-11.095	0.80176	D	.	.	0.710	0.73359	P	.;.;.;.;.;.	.;.;.;.;.;.	4.849171	0.79243	27.1	0.99903761272077596	0.97502	0.98977	0.89442	D	AEFBI	0.933427	0.92532	D	1.04233275352767	0.96906	15.30791	0.911954005259741	0.96073	14.27186	0.999999254446152	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.663000	0.97879	11.330000	0.92539	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:1.0:0.0	18.415	0.90510	982	0.03397	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	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	0.003788	0.1667	2189.06	33	chr8	4032073	.	G	A	2189.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.897;DP=318;ExcessHet=0.4139;FS=1.403;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.42;SOR=0.879	GT:AD:DP:GQ:PL	0/1:49,36:85:99:955,0,1331	4	0	2	0
chr8	6811689	6811689	C	T	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon7:c.G1570A:p.G524R,XKR5:NM_001289973:exon8:c.G1081A:p.G361R	.	384	1128	10	0	0	10	0.00441306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00139776	0.0027	0.0016	0	0	0	0.0042	0.0044	0.0023	0.0010349	160	154602	rs148339184	0.0050	0.0047	0.0051	0.0048	0.0058	0.0049	0.0048	0.0057	0.0057	0.0009	0.0013	7.942e-05	0	0.0003	0.0005	0.0058	0.0051	0.0026	0.0030	0.0030	0.0034	0.0026	0.0054	0.0028	0.0027	0.0050	0.0048	0.0013	0.0077	0.0010	0.0006	0	9.418e-05	0.0034	0.0054	0.0009	0.0023	.	.	.	0.501	0.11153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.12	0.28775	L	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	0.0036621392	0.00067	T	.	.	.	.	.	.	.	0.235664433957	0.23186	0.21286599932417272	0.21202	.	.	0.245238721371	0.03283	T	0.012575	0.11029	T	-0.476586	0.00775	T	-0.454052	0.27251	T	.	.	.	0.513449	0.16474	T	0.041439876	0.06103	0.20168461	0.44161	0.041439876	0.06102	0.20168461	0.44160	-4.196	0.26694	T	.	.	0.118	0.24226	B	.	.	0.451041	0.08212	4.949	0.75499532741431707	0.11099	0.05609	0.11515	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999844504986364	0.43971	0.162113	0.03585	0	0.166317	0.03975	0	0.175069	0.04249	0	0.075334	0.01956	0	0.121902	0.24847	5.5	2.65	0.30588	0.204000	0.17133	-0.100000	0.11953	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1665:0.6574:0.0:0.1761	5.031	0.13752	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1429.83	35	chr8	6811689	.	C	T	1429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.331;DP=274;ExcessHet=0;FS=2.667;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.19;SOR=0.994	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1440,0,1370	5	0	1	0
chr8	7333590	7333590	C	T	exonic	USP17L1;USP17L3	.	stopgain	USP17L3:NM_001256871:exon1:c.C1204T:p.R402X,USP17L1:NM_001256873:exon1:c.C1204T:p.R402X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0.0003	0	0	0.0002	0	0.0003	0.0001153	3	26028	rs575331454	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0	6.802e-05	3.974e-05	7.733e-05	3.793e-05	0.0002	0.0001	7.203e-05	0.0003	0.0001	0.0001	0.0001	9.4e-05	0.0002	6.957e-05	5.632e-05	8.17e-05	6.284e-05	7.757e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.725768	0.00025	T	-0.95435	0.00249	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.808954	0.78206	26.9	0.57070883978628917	0.05689	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.38594698175052E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.472	-0.943	0.09866	-0.516000	0.06367	-1.168000	0.06133	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	3116.04	46	chr8	7333590	.	C	T	3116.04	.	AC=2;AF=0.167;AN=12;DP=297;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=36.48;QD=30.25;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3136,309,0	5	1	0	0
chr8	7358418	7358418	C	T	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G461A:p.R154H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000431589808943	0.0002	.	4.144e-05	0	0	0.0001	0	4.498e-05	0	6.071e-05	3.23e-05	5	154602	rs201106758	5.762e-05	6.708e-05	5.188e-05	6.342e-05	0.0002	4.756e-05	4.378e-05	5.413e-05	4.055e-05	9.354e-05	2.237e-05	0	0.0001	0	0.0002	5.488e-05	6.652e-05	0.0001	6.676e-05	8.614e-05	9.149e-05	4.094e-05	0.0001	3.569e-05	2.755e-05	3.478e-05	2.001e-05	0.0001	0	6.555e-05	0	0	0	0	7.354e-05	0	0	0.056	0.38185	T	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.855	0.21307	L	3.1	0.08283	T	-0.18	0.09796	N	0.107	0.09207	-1.0224	0.22932	T	0.028	0.12103	T	7	0.07263368	0.10869	T	4.32E-4	0.00092	T	0.030	0.07022	.	.	0.0297737177859	0.01360	0.010430456923198913	0.01004	6.86557160948E-4	0.00063	0.369434833527	0.20750	T	0.011287	0.10090	T	-0.605448	0.00135	T	-0.815312	0.01550	T	0.0243425401637793	0.01188	T	0.151985	0.01292	T	0.041552395	0.06139	0.042928398	0.05224	0.041552395	0.06138	0.042928398	0.05224	-4.642	0.32695	T	.	.	0.106	0.19639	B	.	.	1.669900	0.21287	15.13	0.93816411370882002	0.23794	0.01142	0.04139	N	AEFBI	0.060797	0.11579	N	-0.66950268166808	0.16895	0.8647635	-0.891246952774332	0.12301	0.6319442	1.29785486134138E-6	0.01202	0.487112	0.14033	0	0.48864	0.07623	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.14	1.14	0.19817	-1.112000	0.03410	-5.588000	0.01665	0.226000	0.18113	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.6257:0.3743:0.0	5.214	0.14655	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	0.000594	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	6368.06	34	chr8	7358418	.	C	T	6368.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.68;DP=632;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.93;MQRankSum=0.086;QD=14.09;ReadPosRankSum=-0.183;SOR=0.707	GT:AD:DP:GQ:PL	0/1:109,123:232:99:3371,0,2421	4	0	2	0
chr8	11785992	11785992	A	G	exonic	NEIL2	.	nonsynonymous SNV	NEIL2:NM_001135747:exon4:c.A535G:p.R179G,NEIL2:NM_001349441:exon4:c.A535G:p.R179G,NEIL2:NM_001135746:exon5:c.A718G:p.R240G,NEIL2:NM_001135748:exon5:c.A370G:p.R124G,NEIL2:NM_001349439:exon5:c.A535G:p.R179G,NEIL2:NM_001349440:exon5:c.A535G:p.R179G,NEIL2:NM_145043:exon5:c.A718G:p.R240G,NEIL2:NM_001349442:exon6:c.A718G:p.R240G	.	418	1086	17	1	0	19	0.00867184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0171201275	.	.	8.263e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs759717925	1.368e-05	1.368e-05	2.723e-06	2.475e-05	0.0003	8.94e-06	7.26e-06	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	6.295e-06	0.0001	2.319e-05	6.574e-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	0.102	0.39334	T	0.471	0.20357	T	0.801	0.45051	P	0.522	0.48285	P	0.002946	0.35672	N	0.273781	0.593053	0.31004	N	3.03	0.86425	M	2.37	0.15964	T	-4.36	0.83899	D	0.457	0.49692	-0.9519	0.40643	T	0.079	0.31526	T	10	0.42889994	0.57359	T	0.01712	0.38687	T	0.202	0.48754	.	.	0.495970961353	0.49232	0.5429397104386617	0.54218	0.00782571836696	0.00705	0.445672750473	0.31353	T	0.121645	0.44475	T	-0.0955031	0.37167	T	-0.278106	0.46998	T	0.797300636768341	0.46170	D	0.989121	0.96387	D	0.69050455	0.77539	0.63089263	0.78467	0.69050455	0.77540	0.63089263	0.78468	-10.65	0.77704	D	.	.	0.206	0.51497	B	.;.;.;.;.	.;.;.;.;.	3.567191	0.50221	22.9	0.99711151104856066	0.81353	0.77049	0.37842	D	AEFBI	0.295546	0.40563	N	0.143653775991315	0.48512	3.062546	0.0608248767954214	0.42598	2.579328	0.859724893526196	0.25202	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	1.44	0.21647	0.552000	0.23083	.	.	0.756000	0.94297	0.997000	0.40164	0.998000	0.33993	0.396000	0.26692	0.3778:0.4982:0.0:0.124	7.524	0.26811	958	0.09170	DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding;DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding;.;.;DNA glycosylase/AP lyase, H2TH DNA-binding|DNA glycosylase/AP lyase, H2TH DNA-binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2974.83	35	chr8	11785992	.	A	G	2974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.245;DP=553;ExcessHet=0;FS=5.758;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.644;SOR=0.897	GT:AD:DP:GQ:PL	0/1:136,124:260:99:2985,0,3639	5	0	1	0
chr8	12137952	12137952	T	G	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.A809C:p.H270P	.	575	930	16	1	0	18	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00123841217267	.	0.00179712	0.0002	0	0.0004	0.0002	0	0.0001	0	0.0008	0.0003458	9	26028	rs551224100	0.0006	0.0031	0.0006	0.0005	0.0013	0.0005	0.0005	0.0008	0.0008	0.0005	0.0005	0.0004	0	0.0003	0.0013	0.0006	0.0006	0.0010	0.0003	0.0007	0.0003	0.0003	0.0013	0.0002	0.0002	0.0008	0.0007	0.0002	0	0.0013	0	0	0.0002	0	0.0002	0	0.0002	0.017	0.51248	D	0.002	0.79402	D	0.007	0.14184	B	0.003	0.08700	B	0.000463	0.44119	D	0.143175	1	0.08975	N	3.265	0.90016	M	1.53	0.30401	T	-7.99	0.96426	D	0.439	0.47765	-0.9017	0.47814	T	0.107	0.39051	T	10	0.017846763	0.00384	T	0.001238	0.01658	T	0.131	0.35738	.	.	0.383256108077	0.37933	0.06571566565063057	0.06510	0.582843186882	0.54023	0.553416967392	0.46339	T	0.008134	0.07480	T	-0.0987034	0.36640	T	-0.379557	0.35774	T	0.965151131153107	0.67179	D	0.233377	0.03180	T	0.6745935	0.76679	0.38457483	0.63395	0.6745935	0.76680	0.38457483	0.63395	-8.94	0.67310	D	.	.	0.627	0.69975	P	.	.	2.283964	0.29208	18.05	0.831239738730433	0.14555	0.03478	0.08638	N	AEFI	0.065702	0.12830	N	-0.645579563684511	0.17589	0.9063794	-0.857662995886589	0.13103	0.6779107	6.21968687468632E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	2.995000	0.49129	2.197000	0.31255	0.301000	0.18947	0.540000	0.27267	0.029000	0.21193	0.009000	0.08673	0.0:0.0:0.0:1.0	3.861	0.08501	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003822	0.000000	0.000000	0.009709	0.000000	0.000000	0.000000	0.019231	0.2	270.93	.	chr8	12137952	.	T	G	270.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.76;DP=1137;ExcessHet=0.5115;FS=28.453;MLEAC=2;MLEAF=0.2;MQ=47.73;MQRankSum=-3.195;QD=0.55;ReadPosRankSum=-2.235;SOR=3.57	GT:AD:DP:GQ:PL	0/1:180,24:204:99:194,0,4948	3	0	2	1
chr8	17754037	17754037	T	C	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001924:exon2:c.A1771G:p.T591A,MTUS1:NM_001001925:exon2:c.A1771G:p.T591A,MTUS1:NM_001363057:exon2:c.A1771G:p.T591A,MTUS1:NM_001363059:exon2:c.A1771G:p.T591A,MTUS1:NM_001363060:exon2:c.A1771G:p.T591A,MTUS1:NM_001363061:exon2:c.A1771G:p.T591A,MTUS1:NM_001363062:exon2:c.A1771G:p.T591A,MTUS1:NM_001363058:exon3:c.A1771G:p.T591A	.	424	1076	21	1	0	23	0.0105747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	8.3e-05	0.00379393	0.0024	0.0003	8.639e-05	0.0001	0	0.0003	0.0022	0.0157	0.0020763	321	154602	rs200539556	0.0012	0.0012	0.0007	0.0017	0.0173	0.0011	0.0011	0.0166	0.0163	2.987e-05	0.0002	0	5.038e-05	0	0.0059	9.263e-05	0.0011	0.0173	0.0006	0.0006	0.0003	0.0008	0.0131	0.0005	0.0004	0.0105	0.0095	2.406e-05	0	0	0	0	0	0	0.0003	0.0005	0.0131	0.005	0.63226	D	0.093	0.39799	T	0.096	0.36886	B	0.038	0.37000	B	0.016904	0.27856	N	0.297831	0.824439	0.29019	N	1.32	0.33002	L	3.14	0.35590	T	-1.76	0.41618	N	0.195	0.27910	-1.0381	0.17893	T	0.059	0.24539	T	10	0.0043945312	0.00089	T	.	.	.	0.029	0.06676	.	.	0.398133443147	0.39430	0.09200691151694472	0.09133	.	.	0.293597280979	0.09449	T	0.016183	0.13427	T	-0.514338	0.00474	T	-0.497962	0.22560	T	0.0306784420219683	0.02096	T	0.620138	0.25952	T	0.14582437	0.33409	0.08430943	0.19385	0.16457364	0.36672	0.102871716	0.24667	-3.602	0.17973	T	.	.	0.090	0.18414	B	.;.;.	.;.;.	1.847264	0.23471	16.03	0.98489533472077961	0.42085	0.46262	0.27721	N	ALL	0.143488	0.26620	N	-0.217943700044761	0.32396	1.826658	-0.0923455780492205	0.35704	2.06891	0.999999916866603	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.95	3.74	0.42108	-0.137000	0.10369	1.074000	0.23831	0.665000	0.62972	0.914000	0.31788	1.000000	0.68203	1.000000	0.97212	0.0:0.1854:0.1614:0.6532	4.669	0.12065	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.008621	0.000000	0.003788	0.08333	2675.83	34	chr8	17754037	.	T	C	2675.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.43;DP=372;ExcessHet=0;FS=1.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.534;SOR=0.546	GT:AD:DP:GQ:PL	0/1:104,87:191:99:2686,0,2922	5	0	1	0
chr8	23682862	23682862	C	G	exonic	NKX3-1	.	nonsynonymous SNV	NKX3-1:NM_001256339:exon1:c.G28C:p.G10R,NKX3-1:NM_006167:exon1:c.G28C:p.G10R	.	283	1219	19	1	0	21	0.00854006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	.	0.00159744	0.0039	0.0050	0	0	0.0455	0.0045	0	0.0037	0.001119	173	154602	rs199879315	0.0038	0.0036	0.0039	0.0037	0.0059	0.0037	0.0036	0.0041	0.0040	0.0004	0.0020	8.706e-05	0	0.0038	0.0059	0.0042	0.0038	0.0026	0.0025	0.0025	0.0028	0.0023	0.0042	0.0023	0.0022	0.0038	0.0037	0.0006	0	0.0018	0	0	0.0025	0.0137	0.0042	0.0024	0.0021	0.134	0.56456	T	0.099	0.38891	T	0.003	0.11197	B	0.004	0.10090	B	0.008725	0.01216	N	4.460320	1	0.08975	N	1.245	0.31408	L	-2.7	0.91643	D	-1.01	0.26639	N	0.114	0.10340	-0.4440	0.70598	T	0.437	0.77663	T	10	0.0044508576	0.00091	T	.	.	.	0.205	0.49236	0.196	0.10839	0.817378622091	0.81565	0.19839726917081543	0.19756	0.843248174428	0.68164	0.675098955631	0.63566	T	0.09831	0.40201	T	-0.383331	0.02968	T	-0.322727	0.42274	T	0.0694187926280806	0.08570	T	0.461754	0.13398	T	0.06653287	0.14324	0.110001214	0.26519	0.06653287	0.14324	0.110001214	0.26519	-3.88	0.22002	T	.	.	0.110	0.21049	B	.;.	.;.	1.568187	0.20082	14.58	0.98761231855630283	0.45816	0.20371	0.21016	N	ALL	0.091290	0.18492	N	-1.17562686390958	0.05370	0.2446397	-1.21933654477296	0.05599	0.267248	0.999997869941008	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.65	-0.838	0.10218	-0.945000	0.04019	-0.451000	0.09099	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3611:0.5543:0.0846	9.973	0.40939	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	0.005252	0.000000	0.004190	0.003067	0.000000	0.009259	0.006579	0.011628	0.08333	90.83	39	chr8	23682862	.	C	G	90.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.857;DP=171;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=1.25;SOR=0.399	GT:AD:DP:GQ:PL	0/1:20,8:28:99:101,0,504	5	0	1	0
chr8	42187431	42187431	A	T	exonic	PLAT	.	nonsynonymous SNV	PLAT:NM_033011:exon5:c.T368A:p.I123N,PLAT:NM_000930:exon6:c.T506A:p.I169N	Hyperfibrinolysis, familial, due to increased release of PLAT;Thrombophilia, familial, due to decreased release of PLAT	0	1513	9	0	0	9	0.0029654	.	.	.	4024660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.123	0.0293429221252	7.7e-05	0.000399361	0.0002	0	0.0002	0	0	6.156e-05	0	0.0013	0.0002199	34	154602	rs369709932	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	0	0.0002	0	0	0	0.0009	7.845e-05	0.0003	0.0012	9.845e-05	9.842e-05	0.0001	6.711e-05	0.0006	6e-05	4.875e-05	0.0002	8.989e-05	7.213e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0006	0.028	0.57480	D	0.083	0.42614	T	0.0	0.02946	B	0.003	0.08700	B	0.599360	0.05637	N	1.174590	1	0.08975	N	0.715	0.18665	N	0.0	0.62608	T	-3.19	0.65283	D	0.29	0.37820	-1.0631	0.10997	T	0.113	0.40238	T	10	0.010795832	0.00239	T	0.029343	0.51873	D	0.123	0.34020	.	.	0.26547132957	0.26150	0.4148258764237494	0.41398	0.309095719093	0.33226	0.272128045559	0.06420	T	0.309259	0.68130	T	-0.386327	0.02841	T	-0.363086	0.37695	T	0.0177027446815645	0.00501	T	0.39866	0.10319	T	0.18521406	0.39874	0.15777428	0.36875	0.18521406	0.39873	0.15777428	0.36875	-5.971	0.50101	T	.	.	0.104	0.29615	B	.;.;.;.	.;.;.;.	0.516807	0.08858	5.635	0.83817715964603712	0.14937	0.10480	0.15975	N	AEFDGBI	0.119622	0.23339	N	-1.28907177068391	0.03806	0.1706776	-1.31004254826034	0.04300	0.2024988	0.999818585620534	0.43459	0.634777	0.41761	0	0.547309	0.14657	0	0.658983	0.55881	0	0.645665	0.59343	0	.	.	5.95	-2.64	0.05757	0.413000	0.20869	1.743000	0.28415	-0.065000	0.16512	0.001000	0.13787	0.311000	0.24273	0.069000	0.16583	0.4326:0.213:0.2514:0.103	1.952	0.03164	396	0.82953	Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle;.;Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1150.83	38	chr8	42187431	.	A	T	1150.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.965;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.55;ReadPosRankSum=0.238;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,30:56:99:0|1:42187431_A_T:1161,0,1001:42187431	5	0	1	0
chr8	50530203	50530203	A	G	exonic	SNTG1	.	nonsynonymous SNV	SNTG1:NM_001287814:exon9:c.A493G:p.T165A,SNTG1:NM_001321773:exon9:c.A493G:p.T165A,SNTG1:NM_001321777:exon9:c.A493G:p.T165A,SNTG1:NM_001321776:exon10:c.A493G:p.T165A,SNTG1:NM_001321778:exon10:c.A493G:p.T165A,SNTG1:NM_018967:exon10:c.A493G:p.T165A,SNTG1:NM_001287813:exon11:c.A493G:p.T165A,SNTG1:NM_001321775:exon11:c.A493G:p.T165A	.	.	.	.	.	.	.	.	.	.	.	3326332	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.00466219334967	.	.	2.475e-05	0	0	0	0	4.502e-05	0	0	1.94e-05	3	154602	rs765351175	1.163e-05	1.163e-05	5.446e-06	1.788e-05	0.0005	7.09e-06	5.79e-06	0.0001	7.546e-05	0	0	0	0	0	0.0005	9.894e-06	4.969e-05	0	3.945e-05	3.938e-05	7.716e-05	0	7.356e-05	1.716e-05	1.13e-05	2.848e-05	1.859e-05	0	0	0	0	0	0	0.0034	7.356e-05	0	0	0.738	0.04699	T	0.636	0.07059	T	0.956	0.54666	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.425	0.12573	N	1.62	0.28189	T	-0.12	0.08809	N	0.724	0.72567	-1.0727	0.08830	T	0.101	0.37417	T	10	0.21802619	0.38432	T	0.004662	0.11566	T	0.258	0.56959	.	.	0.498576615019	0.49493	0.3359602086510024	0.33509	0.0528663543749	0.05827	0.787548303604	0.80070	T	0.009588	0.08721	T	0.0390033	0.56916	T	-0.166265	0.57784	T	0.145985319838885	0.16779	T	0.782222	0.45619	T	0.14534448	0.33321	0.20333917	0.44405	0.14534448	0.33321	0.20333917	0.44404	-3.256	0.13176	T	.	.	0.150	0.54947	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.174651	0.43070	21.7	0.97772422671746317	0.35882	0.96940	0.71775	D	AEFI	0.846140	0.76303	D	0.204674631849614	0.51425	3.323866	0.353277683663965	0.58703	4.042717	0.980587709539666	0.30153	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.68	5.68	0.88021	7.981000	0.87725	9.044000	0.78622	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.755	0.69180	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1426.83	34	chr8	50530203	.	A	G	1426.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.004;DP=300;ExcessHet=0;FS=4.319;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.32;SOR=0.539	GT:AD:DP:GQ:PL	0/1:58,64:122:99:1437,0,1372	5	0	1	0
chr8	55786346	55786346	G	A	exonic	TGS1	.	nonsynonymous SNV	TGS1:NM_001317902:exon3:c.G169A:p.D57N,TGS1:NM_001363184:exon3:c.G169A:p.D57N,TGS1:NM_024831:exon4:c.G448A:p.D150N	.	445	1062	13	2	0	17	0.00794021	.	.	.	711583	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	0.0117076615631	0.0065	0.000998403	0.0059	0.0006	0.0012	0	0.0017	0.0094	0.0056	0.0030	0.0057373	887	154602	rs61740025	0.0073	0.0073	0.0073	0.0073	0.0086	0.0072	0.0071	0.0085	0.0084	0.0012	0.0015	0.0055	5.041e-05	0.0022	0.0061	0.0086	0.0070	0.0027	0.0049	0.0049	0.0054	0.0043	0.0089	0.0046	0.0045	0.0083	0.0081	0.0013	0	0.0018	0.0052	0	0.0019	0	0.0089	0.0038	0.0012	0.238	0.17821	T	0.28	0.21678	T	0.147	0.27870	B	0.035	0.22741	B	0.045469	0.23534	N	0.438834	1	0.08975	N	2.015	0.55033	M	2.21	0.18414	T	-0.88	0.23808	N	0.101	0.08366	-1.0322	0.19745	T	0.033	0.14029	T	10	0.0028980374	0.00046	T	0.011708	0.29605	T	0.085	0.24743	.	.	0.502005994047	0.49837	0.11370694957732977	0.11298	0.0549830316714	0.06090	0.304268658161	0.11041	T	0.031821	0.22214	T	-0.634854	0.00089	T	-0.671727	0.07498	T	0.00651362585566055	0.00073	T	0.785321	0.42297	T	0.03602391	0.04353	0.043781422	0.05526	0.03602391	0.04353	0.043781422	0.05525	-3.877	0.21958	T	.	.	0.079	0.07318	B	.	.	1.554669	0.19923	14.50	0.96901805160595367	0.31542	0.11281	0.16529	N	AEFBI	0.057781	0.10790	N	-0.614333367505788	0.18513	0.9617517	-0.564009282694913	0.20435	1.100928	0.99948680843209	0.39952	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	4.92	0.64147	2.064000	0.41059	5.039000	0.46894	-0.119000	0.14319	0.057000	0.21666	1.000000	0.68203	0.445000	0.27784	0.1543:0.1523:0.6934:0.0	7.696	0.27764	850	0.35610	.	.	.	.	.	.	Likely benign	0	0	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	0.005539	0.000000	0.002717	0.005848	0.000000	0.025862	0.009146	0.003788	0.08333	1062.83	34	chr8	55786346	.	G	A	1062.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.867;DP=260;ExcessHet=0;FS=8.024;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.839;SOR=0.229	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1073,0,746	5	0	1	0
chr8	56167403	56167403	C	T	exonic	PLAG1	.	nonsynonymous SNV	PLAG1:NM_001114635:exon3:c.G97A:p.D33N,PLAG1:NM_001114634:exon4:c.G343A:p.D115N,PLAG1:NM_002655:exon5:c.G343A:p.D115N	Adenomas, salivary gland pleomorphic, somatic	.	.	.	.	.	.	.	.	.	.	2224890	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00522003700747	.	.	1.722e-05	0	0	0	0	3.143e-05	0	0	1.29e-05	2	154602	rs755390631	4.106e-06	4.104e-06	0	8.254e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.498e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	0.133	0.34359	T	0.002	0.09854	B	0.001	0.04355	B	0.000008	0.62929	D	0.159694	0.999864	0.50061	D	0.19	0.09125	N	2.7	0.59851	T	-2.83	0.60348	D	0.141	0.18512	-1.0285	0.20940	T	0.090	0.34518	T	10	0.1488961	0.28189	T	0.00522	0.13310	T	0.097	0.27909	0.337	0.32654	0.262679179196	0.25893	0.5078026818979449	0.50702	0.546786555214	0.51664	0.619406402111	0.55645	T	0.222961	0.58697	T	-0.276989	0.10990	T	-0.620166	0.11172	T	0.40482559800148	0.29124	T	0.953905	0.83719	D	0.15575814	0.35186	0.1143749	0.27608	0.15575814	0.35186	0.1143749	0.27607	-6.294	0.48674	T	.	.	0.462	0.71006	A	.;.;.	.;.;.	3.691570	0.52601	23.3	0.98799616421796188	0.46429	0.81089	0.40568	D	AEFDBHI	0.116954	0.22933	N	-0.177430586119815	0.34075	1.940676	0.0412433299605973	0.41651	2.505882	0.999947109215586	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.608524	0.38960	0	0.635551	0.53088	0	.	.	5.82	4.83	0.61880	2.547000	0.45446	5.965000	0.51894	0.549000	0.26987	0.986000	0.36153	1.000000	0.68203	0.891000	0.42908	0.0:0.8082:0.0:0.1918	7.029	0.24133	875	0.30485	Zinc finger C2H2-type;.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1493.83	34	chr8	56167403	.	C	T	1493.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=325;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.81;SOR=0.744	GT:AD:DP:GQ:PL	0/1:80,59:139:99:1504,0,2040	5	0	1	0
chr8	81671002	81671002	G	A	exonic	IMPA1	.	nonsynonymous SNV	IMPA1:NM_005536:exon7:c.C503T:p.T168I,IMPA1:NM_001144878:exon8:c.C680T:p.T227I	Mental retardation, autosomal recessive 59, Autosomal recessive	439	1072	9	2	0	13	0.00602689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0161915108403	0.0002	0.000399361	0.0009	0	0	0	0	0.0002	0	0.0055	0.0007374	114	154602	rs148950764	0.0004	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0041	0.0039	7.169e-05	0.0002	0	0	0	0.0048	0.0001	0.0005	0.0045	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	7.221e-05	0	0.0005	0	0	0	0	0.0003	0.0005	0.0025	0.003	0.68238	D	0.009	0.66756	D	0.088	0.25022	B	0.068	0.27651	B	0.201186	0.16596	N	0.625996	1	0.81001	D	1.165	0.29723	L	0.66	0.52416	T	-1.98	0.51478	N	0.237	0.26717	-1.0029	0.29080	T	0.094	0.35738	T	10	0.011553228	0.00252	T	0.016192	0.37323	T	0.036	0.09122	.	.	0.660644780661	0.65780	0.5545667876305154	0.55383	0.123502751491	0.13904	0.396727532148	0.24614	T	0.400385	0.75798	T	-0.459902	0.00985	T	-0.432578	0.29643	T	0.0409013131765717	0.03854	T	0.89811	0.64401	D	0.33410552	0.55805	0.24734825	0.50263	0.37741506	0.59129	0.23773234	0.49076	-3.084	0.14896	T	.	.	0.229	0.47986	B	.;.;.;.	.;.;.;.	3.005572	0.40175	21.1	0.99238177236615399	0.56437	0.74076	0.36233	D	AEFBI	0.359663	0.44991	N	-0.243995322399795	0.31343	1.756549	-0.166132050605109	0.32791	1.869139	0.170529903057637	0.17729	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.16	2.08	0.26079	1.605000	0.36426	4.939000	0.46195	0.606000	0.46413	0.974000	0.34632	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.4757:0.5243	11.306	0.48570	688	0.59122	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.25	1459.03	34	chr8	81671002	.	G	A	1459.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.748;DP=268;ExcessHet=1.383;FS=2.755;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.482;SOR=0.594	GT:AD:DP:GQ:PL	0/1:30,16:46:99:320,0,767	3	0	3	0
chr8	85332503	85332503	G	A	exonic	CA1	.	nonsynonymous SNV	CA1:NM_001291968:exon4:c.C161T:p.A54V,CA1:NM_001164830:exon5:c.C500T:p.A167V,CA1:NM_001291967:exon5:c.C302T:p.A101V,CA1:NM_001128831:exon6:c.C500T:p.A167V,CA1:NM_001128829:exon7:c.C500T:p.A167V,CA1:NM_001128830:exon7:c.C500T:p.A167V,CA1:NM_001738:exon7:c.C500T:p.A167V	.	424	1000	93	5	0	103	0.0489777	.	.	.	711647	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0069	0.00738818	0.0091	0.0008	0.0062	0	0.0053	0.0120	0.0188	0.0101	0.0090684	1402	154602	rs61734485	0.0083	0.0083	0.0078	0.0088	0.0480	0.0082	0.0081	0.0433	0.0415	0.0022	0.0072	0.0352	2.527e-05	0.0063	0.0480	0.0077	0.0106	0.0110	0.0071	0.0070	0.0072	0.0069	0.0091	0.0067	0.0066	0.0083	0.0081	0.0015	0.0220	0.0084	0.0329	0	0.0061	0.0272	0.0089	0.0142	0.0091	0.041	0.44694	D	0.499	0.17910	T	0.45	0.36066	B	0.144	0.33818	B	0.263341	0.15271	N	0.669489	0.999997	0.25329	N	2.745	0.80253	M	-0.28	0.67543	T	-1.62	0.44657	N	0.176	0.18920	-0.8815	0.49642	T	0.091	0.34874	T	10	0.007727623	0.00175	T	.	.	.	0.145	0.38592	.	.	0.73447084507	0.73210	0.3681289320262565	0.36726	0.0410110934837	0.04401	0.281334668398	0.07679	T	0.068996	0.33598	T	-0.399058	0.02348	T	-0.333671	0.41060	T	0.00874550681318089	0.00108	T	0.833317	0.56350	T	0.26060283	0.49116	0.24295774	0.49728	0.34881502	0.56974	0.24295774	0.49727	-6.553	0.50694	T	0.2323406808646329	0.31446	0.124	0.26010	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.317641	0.17215	13.03	0.96525085045259451	0.30129	0.48464	0.28213	N	AEFI	0.261359	0.37932	N	-0.341041418075239	0.27603	1.515762	-0.427219303761543	0.24202	1.324005	4.52593591734053E-4	0.07036	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.34	1.39	0.21325	1.381000	0.33969	1.567000	0.27393	0.618000	0.50648	0.049000	0.21372	0.004000	0.18990	0.546000	0.30079	0.0946:0.1684:0.3902:0.3467	2.502	0.04354	806	0.43582	Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain;Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain|Alpha carbonic anhydrase domain	.	.	C8orf59|C8orf59|C8orf59	Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial	rs61734485	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.044814	0.025253	0.054348	0.061404	0.000000	0.043103	0.033537	0.034091	0.08333	544.83	35	chr8	85332503	.	G	A	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.133;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.07;SOR=0.708	GT:AD:DP:GQ:PL	0/1:27,25:52:99:555,0,673	5	0	1	0
chr8	103331493	103331493	G	A	exonic	FZD6	.	nonsynonymous SNV	FZD6:NM_001317796:exon6:c.G1190A:p.C397Y,FZD6:NM_001164615:exon7:c.G2105A:p.C702Y,FZD6:NM_003506:exon7:c.G2105A:p.C702Y,FZD6:NM_001164616:exon8:c.G2009A:p.C670Y	Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0151059252239	.	.	8.327e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs757112285	6.857e-07	2.052e-06	1.365e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31383	T	0.114	0.37449	T	0.001	0.07471	B	0.004	0.10090	B	0.000069	0.00414	N	3.375160	1	0.08975	N	0.345	0.11182	N	-0.91	0.75438	T	-0.33	0.12472	N	0.057	0.03502	-0.8996	0.48034	T	0.199	0.55471	T	10	0.039586216	0.02459	T	0.015106	0.35650	T	0.181	0.45247	0.095	0.01241	0.662413160851	0.65958	0.13658497569674066	0.13582	0.42995996695	0.43261	0.35824662447	0.19130	T	0.162056	0.50656	T	-0.146699	0.28831	T	-0.448499	0.27864	T	0.0443216599524021	0.04479	T	0.69513	0.30474	T	0.07854354	0.17891	0.10500566	0.25233	0.07854354	0.17891	0.10500566	0.25233	-3.83	0.21898	T	.	.	0.064	0.02829	B	.;.;.	.;.;.	1.688635	0.21515	15.23	0.72645755593408601	0.10046	0.01444	0.04845	N	AEFDBI	0.028254	0.02456	N	-0.804404353716185	0.13197	0.6484671	-0.739618845047526	0.15978	0.8430131	0.0995402079415605	0.16333	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	1.99	0.25423	0.786000	0.26505	.	.	0.676000	0.76740	0.009000	0.18154	0.103000	0.22699	0.970000	0.54328	0.5323:0.0:0.4677:0.0	5.002	0.13615	280	0.88949	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	747.83	34	chr8	103331493	.	G	A	747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=247;ExcessHet=0;FS=5.21;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.573;SOR=1.395	GT:AD:DP:GQ:PL	0/1:35,30:65:99:758,0,838	5	0	1	0
chr8	132897714	132897714	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon12:c.C3067T:p.R1023W	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0266844100394	7.7e-05	0.000199681	4.944e-05	0.0003	0	0	0	4.498e-05	0	0	4.53e-05	7	154602	rs114452431	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0002	1.52e-05	1.324e-05	7.712e-05	5.305e-05	0.0002	0	0	2.519e-05	0	0	1.978e-05	0	2.319e-05	8.534e-05	8.53e-05	7.707e-05	9.399e-05	0.0003	4.953e-05	3.959e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	2.94e-05	0	0	0.133	0.26409	T	0.188	0.28669	T	0.002	0.09854	B	0.002	0.06944	B	0.000730	0.00674	N	3.109570	1	0.08975	N	1.275	0.32135	L	-0.07	0.63738	T	-1.01	0.26639	N	0.148	0.15046	-1.0187	0.24139	T	0.128	0.43544	T	10	0.038980603	0.02355	T	0.026684	0.49576	D	0.232	0.53354	.	.	0.542630587416	0.53915	0.526497907780505	0.52573	0.0719027453471	0.08059	0.265279382467	0.05536	T	0.039	0.25175	T	-0.255136	0.13476	T	-0.367593	0.37169	T	0.0953842625021935	0.11841	T	0.506149	0.16021	T	0.081641406	0.18768	0.029271893	0.01247	0.081641406	0.18768	0.029271893	0.01247	-5.99	0.46196	T	0.14376432242904225	0.16369	0.075	0.05360	B	.	.	0.974442	0.13517	10.04	0.55480740806985318	0.05351	0.05170	0.10987	N	AEFDBI	0.136764	0.25754	N	-1.1504758244399	0.05772	0.2640099	-1.17929908771484	0.06257	0.3005844	0.962385307652049	0.28619	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	-1.61	0.07951	0.544000	0.22960	-4.991000	0.01896	-0.176000	0.10722	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2225:0.2127:0.1921:0.3726	0.373	0.00356	781	0.47532	Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1542.83	64	chr8	132897714	.	C	T	1542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.629;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.73;ReadPosRankSum=0.571;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,41:87:99:0|1:132897704_C_T:1553,0,1778:132897704	5	0	1	0
chr8	132941380	132941380	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5071T:p.R1691C	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	736448	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0237823006837	7.7e-05	0.00139776	0.0009	9.61e-05	0.0002	0	0	1.498e-05	0.0011	0.0062	0.0007697	119	154602	rs375968742	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	4.472e-05	0	7.557e-05	0	0.0009	3.147e-05	0.0003	0.0066	0.0004	0.0004	0.0002	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0003	0	6.535e-05	0	0.0002	0	0	5.879e-05	0	0.0079	0.01	0.56456	D	0.05	0.48080	T	0.698	0.41805	P	0.132	0.33005	B	0.057643	0.22464	N	0.450057	0.992862	0.23812	N	1.355	0.33814	L	-0.12	0.64630	T	-0.83	0.22727	N	0.182	0.19728	-0.9853	0.33760	T	0.123	0.42547	T	10	0.00978145	0.00220	T	0.023782	0.46754	T	0.087	0.25287	.	.	0.718356697609	0.71587	0.25225084115544155	0.25139	0.148518372193	0.16750	0.290816098452	0.09041	T	0.060231	0.31330	T	-0.509074	0.00508	T	-0.500301	0.22315	T	0.0602484494951213	0.07209	T	0.377862	0.09067	T	0.12642443	0.29612	0.040627	0.04433	0.12642443	0.29611	0.040627	0.04432	-7.936	0.60633	D	0.24692635108335825	0.33440	0.225	0.45714	B	.	.	1.766636	0.22469	15.63	0.99090510521380692	0.52198	0.37993	0.25887	N	AEFGBI	0.078775	0.15899	N	-0.515891887235795	0.21565	1.145462	-0.511119990078303	0.21851	1.184037	0.997341882661644	0.35520	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	0.561	0.16471	0.951000	0.28733	0.804000	0.21687	-0.043000	0.17390	0.967000	0.34061	0.000000	0.08366	0.615000	0.31768	0.4205:0.4254:0.1541:0.0	5.936	0.18405	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.1667	4559.06	34	chr8	132941380	.	C	T	4559.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.806;DP=511;ExcessHet=0.4139;FS=2.899;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.65;SOR=0.87	GT:AD:DP:GQ:PL	0/1:78,101:179:99:2550,0,1839	4	0	2	0
chr8	138148665	138148665	T	A	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon14:c.A3303T:p.K1101N,FAM135B:NM_015912:exon14:c.A3303T:p.K1101N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00898408988024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	1.368e-06	0	1.383e-06	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.073	0.43159	T	0.028	0.19712	B	0.009	0.14300	B	0.000000	0.84330	D	0.052775	0.972898	0.38982	D	2.06	0.56677	M	2.39	0.15724	T	-1.92	0.44657	N	0.216	0.24135	-1.1338	0.01609	T	0.070	0.28609	T	10	0.08404735	0.14046	T	0.008984	0.23655	T	0.093	0.26882	0.37	0.38013	0.117191471859	0.11215	0.6074436903089347	0.60676	1.12124685148	0.78307	0.524117708206	0.42207	T	0.08545	0.37504	T	-0.256435	0.13320	T	-0.606127	0.12301	T	0.875644862651825	0.52552	D	0.783622	0.42065	T	0.25547695	0.48582	0.20388824	0.44487	0.25547695	0.48581	0.20388824	0.44486	-8.696	0.65720	D	.	.	0.197	0.41947	B	.	.	2.600902	0.33759	19.43	0.99570812389586716	0.72379	0.83570	0.42678	D	AEI	0.469095	0.51562	N	-0.0372381566230602	0.40175	2.381394	0.00810423773169052	0.40090	2.387085	1.45656700976475E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	2.19	0.26890	0.078000	0.14615	0.040000	0.13855	0.665000	0.62972	0.970000	0.34288	0.961000	0.29326	1.000000	0.97212	0.0:0.2943:0.0:0.7057	9.100	0.35826	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	.	.	.	.	.	.	.	.	0.08333	299.83	28	chr8	138148665	.	T	A	299.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.061;DP=178;ExcessHet=0;FS=3.211;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-0.177;SOR=1.473	GT:AD:DP:GQ:PL	0/1:21,13:34:99:310,0,599	5	0	1	0
chr8	141479938	141479938	G	A	exonic	MROH5	.	unknown	UNKNOWN	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.50327	.	.	.	.	.	.	.	0.18843314	0.34398	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	.	.	.	.	0.481720626354	0.36294	T	.	.	.	-0.0553577	0.43628	T	-0.317294	0.42871	T	.	.	.	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41418	B	.	.	2.367126	0.30367	18.42	0.99750179226632307	0.84228	0.29405	0.23813	N	AEFBI	0.059036	0.11119	N	.	.	.	.	.	.	0.00375754857762003	0.10266	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.38	3.49	0.39065	1.672000	0.37139	3.072000	0.36204	-0.236000	0.07595	0.178000	0.24038	1.000000	0.68203	0.763000	0.36255	0.1221:0.0:0.8779:0.0	7.265	0.25399	895	0.25842	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	974.83	40	chr8	141479938	.	G	A	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.805;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=1.37;SOR=0.596	GT:AD:DP:GQ:PL	0/1:40,40:80:99:985,0,1069	5	0	1	0
chr8	143331229	143331229	T	C	exonic	TOP1MT	.	nonsynonymous SNV	TOP1MT:NM_052963:exon2:c.A233G:p.Y78C	.	.	.	.	.	.	.	.	.	.	.	3928060	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.019797618027	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244083842	2.754e-06	4.104e-06	4.101e-06	1.387e-06	1.166e-05	6.4e-07	4.4e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.715e-06	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.094339	0.20178	U	0.353469	0.999996	0.81001	D	3.82	0.95555	H	0.94	0.43672	T	-7.76	0.97728	D	0.747	0.74644	-0.5151	0.68098	T	0.310	0.68003	T	10	0.97978175	0.97918	D	0.019798	0.42253	T	0.366	0.68582	0.884	0.97032	0.542630587416	0.53915	0.6265502845329828	0.62588	0.654754854923	0.58542	0.618434309959	0.55508	T	0.489438	0.81466	T	0.237957	0.77470	D	0.104033	0.77177	D	0.993813753128052	0.84776	D	0.873413	0.61048	D	0.8895559	0.90469	0.7680341	0.86301	0.8895559	0.90470	0.7680341	0.86302	-8.486	0.64337	D	.	.	0.231	0.69546	B	.;.;.;.	.;.;.;.	2.753319	0.36096	20.2	0.9868373186697762	0.44652	0.89449	0.49921	D	AEFDBI	0.460320	0.51055	N	0.263854686458918	0.54329	3.598598	0.00222031072251799	0.39820	2.366777	0.997844173070088	0.36100	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.51	2.33	0.27981	3.936000	0.56280	.	.	0.585000	0.30472	1.000000	0.71638	0.000000	0.08366	0.321000	0.24994	0.0:0.1056:0.0:0.8944	7.679	0.27669	976	0.04745	DNA topoisomerase I, DNA binding, eukaryotic-type;DNA topoisomerase I, DNA binding, eukaryotic-type;DNA topoisomerase I, DNA binding, eukaryotic-type;DNA topoisomerase I, DNA binding, eukaryotic-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	.	.	.	.	.	.	.	.	0.08333	993.83	35	chr8	143331229	.	T	C	993.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.858;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.185;SOR=0.655	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1004,0,966	5	0	1	0
chr8	143613787	143613787	G	A	exonic	GFUS	.	nonsynonymous SNV	GFUS:NM_001317783:exon8:c.C712T:p.R238W,GFUS:NM_003313:exon8:c.C694T:p.R232W	.	.	.	.	.	.	.	.	.	.	.	2759277	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.671	0.298844964649	8.5e-05	0.000199681	0.0002	0	0	0	0	0.0005	0	0	3.23e-05	5	154602	rs376988546	5.577e-05	5.404e-05	6.349e-05	4.784e-05	3.985e-05	4.54e-05	4.199e-05	3.002e-05	2.668e-05	3.165e-05	0	0.0011	2.798e-05	2.063e-05	0	3.985e-05	5.172e-05	1.262e-05	6.566e-05	6.562e-05	6.423e-05	6.716e-05	0.0002	3.514e-05	2.615e-05	2.847e-05	1.858e-05	2.407e-05	0	0	0.0009	0.0002	0	0	7.351e-05	0	0	0.037	0.43085	D	0.038	0.51421	D	0.593	0.39147	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	-3.3	0.93787	D	-7.47	0.94958	D	0.861	0.85766	0.532	0.90990	D	0.719	0.90345	D	10	0.5145667	0.62291	D	0.298845	0.90814	D	0.671	0.87820	.	.	0.980167587567	0.97994	0.7674171155174688	0.76690	0.190092444428	0.21326	0.518378973007	0.41397	T	0.669	0.90158	D	0.151899	0.69446	D	0.184016	0.82226	D	0.620670020580292	0.37233	D	.	.	.	0.7457854	0.80624	0.46757486	0.69112	0.7457854	0.80626	0.46757486	0.69113	-12.219	0.85901	D	.	.	0.279	0.51917	B	.;.;.	.;.;.	5.060306	0.84340	28.3	0.99753389903373624	0.84460	0.92478	0.55805	D	AEFBCI	0.752090	0.69270	D	0.234052495768119	0.52854	3.457247	0.286875093147031	0.54772	3.641294	0.999997950811733	0.74766	0.706548	0.73137	0	0.606735	0.50208	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	2.986000	0.49059	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8228:0.1771	11.679	0.50709	964	0.07719	NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000631	0.000000	0.000000	0.000000	0.000000	0.000000	0.003650	0.000000	0.08333	1136.83	36	chr8	143613787	.	G	A	1136.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.023;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.681;SOR=0.662	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1147,0,992	5	0	1	0
chr9	117212	117212	A	C	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.T908G:p.L303R	.	478	1043	1	0	0	1	0.000479157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	.	.	0.00119808	0.0018	0	0	0	0	0	0.0015	0.0105	3.88e-05	6	154602	rs531268742	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0005	0.0090	0.0087	5.987e-05	0	0	5.038e-05	0	0.0002	8.095e-06	0.0006	0.0095	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	9.633e-05	0	0	0	0	0	0	0	0	0.0089	0.011	0.55530	D	0.034	0.52727	D	0.608	0.39540	P	0.088	0.29688	B	0.164729	0.17553	U	0.295501	0.974107	0.25510	N	1.04	0.26193	L	-3.57	0.94904	D	-0.97	0.25770	N	0.137	0.13484	-0.2944	0.75141	T	0.524	0.82278	D	10	0.0096609	0.00217	T	.	.	.	0.312	0.63375	.	.	0.409398589964	0.40557	0.325410962784523	0.32454	.	.	0.720670461655	0.70145	T	0.005694	0.05139	T	-0.289397	0.09697	T	-0.180514	0.56476	T	0.0172268013217271	0.00465	T	0.408959	0.10549	T	0.13297994	0.30946	0.13995002	0.33375	0.13297994	0.30946	0.13995002	0.33374	-2.948	0.09632	T	.	.	0.052	0.00229	B	.	.	1.018425	0.13976	10.54	0.98474057279831506	0.41896	0.19550	0.20704	N	AEFBI	0.092392	0.18706	N	-0.788703953501366	0.13604	0.6713651	-0.862135239819585	0.12996	0.6717449	5.91697270581489E-4	0.07414	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	2.41	-0.468	0.11539	-0.216000	0.09271	-0.801000	0.07374	-0.225000	0.07834	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.6292:0.221:0.1498:0.0	3.716	0.07969	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	0.001832	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004274	0.08333	767.83	36	chr9	117212	.	A	C	767.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.078;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=42.77;MQRankSum=-1.387;QD=12.59;ReadPosRankSum=0.418;SOR=0.752	GT:AD:DP:GQ:PL	0/1:30,31:61:99:778,0,738	5	0	1	0
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.08333	977.83	35	chr9	894044	.	A	G	977.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.562;DP=283;ExcessHet=0;FS=0.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.673;SOR=0.766	GT:AD:DP:GQ:PL	0/1:65,40:105:99:988,0,1754	5	0	1	0
chr9	916806	916806	G	A	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon4:c.G392A:p.R131K,DMRT1:NM_021951:exon4:c.G866A:p.R289K	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0105357618066	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs757552219	1.3e-05	1.3e-05	6.806e-06	1.925e-05	0.0002	8.31e-06	6.7e-06	0.0001	0.0001	0	0	0	0	0	0	8.993e-07	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.042	0.92824	D	0.994	0.66517	D	0.97	0.72226	D	0.001711	0.38216	N	0.220210	0.978396	0.39458	D	3.055	0.86842	M	1.54	0.30133	T	-1.85	0.49352	N	0.796	0.83473	-0.6025	0.64714	T	0.236	0.60270	T	10	0.74664384	0.75336	D	0.010536	0.27195	T	0.342	0.66392	0.395	0.42099	0.697019047537	0.69440	0.5278139917731289	0.52705	0.744429683914	0.63434	0.631880283356	0.57412	T	0.398291	0.75643	T	-0.100141	0.36401	T	-0.107323	0.62825	T	0.823207020759583	0.48012	D	0.854315	0.59649	D	0.2726692	0.50336	0.265271	0.52358	0.2726692	0.50336	0.265271	0.52357	-4.455	0.30296	T	0.7568505592569272	0.83879	0.331	0.55292	B	.;.	.;.	4.889666	0.80265	27.3	0.99658965202467764	0.77820	0.95284	0.64125	D	AEFBI	0.664191	0.63344	D	0.864269836658717	0.89903	10.16793	0.821864649962973	0.91272	10.803	0.996190791824862	0.34585	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	6.298000	0.72739	11.805000	0.96765	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.819	0.88557	934	0.15400	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2987.83	36	chr9	916806	.	G	A	2987.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.826;DP=363;ExcessHet=0;FS=1.892;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.291;SOR=0.855	GT:AD:DP:GQ:PL	0/1:68,117:185:99:2998,0,1720	5	0	1	0
chr9	20981543	20981543	C	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon37:c.C4390T:p.P1464S,FOCAD:NM_001375570:exon37:c.C4390T:p.P1464S,FOCAD:NM_001375567:exon38:c.C4495T:p.P1499S,FOCAD:NM_017794:exon40:c.C4495T:p.P1499S	.	.	.	.	.	.	.	.	.	.	.	737088	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	0.0055	0.00339457	0.0040	0.0015	0.0023	0	0.0032	0.0061	0.0011	0.0006	0.0042043	650	154602	rs117591845	0.0057	0.0057	0.0058	0.0055	0.0069	0.0056	0.0055	0.0067	0.0067	0.0009	0.0021	7.652e-05	0	0.0030	0.0002	0.0069	0.0051	0.0007	0.0040	0.0040	0.0041	0.0040	0.0061	0.0038	0.0037	0.0056	0.0054	0.0012	0.0296	0.0058	0	0	0.0025	0	0.0061	0.0047	0.0002	0.159	0.23813	T	0.532	0.10034	T	.	.	.	.	.	.	0.925804	0.07504	N	1.032580	1	0.08975	N	.	.	.	2.24	0.17923	T	-0.67	0.19297	N	0.127	0.12055	-0.9872	0.33298	T	0.026	0.11131	T	10	0.0035098493	0.00063	T	.	.	.	0.064	0.18567	.	.	0.136095386433	0.13204	0.21360456744450887	0.21276	0.00576182497348	0.00504	0.269468426704	0.06071	T	0.005197	0.04646	T	-0.634563	0.00090	T	-0.678733	0.07061	T	0.00233232321774912	0.00024	T	0.652235	0.26282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.;.	.;.;.	0.320458	0.06949	3.497	0.61074612771385894	0.06619	0.13229	0.17737	N	AEFDGBIJ	0.116201	0.22815	N	-0.842396969317738	0.12238	0.5952815	-0.837875707448347	0.13580	0.70522	0.999998561072742	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.659464	0.59346	0	0.677038	0.66255	0	.	.	5.7	2.67	0.30756	0.457000	0.21588	0.280000	0.16756	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7395:0.1231:0.1373	10.313	0.42900	488	0.76887	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1553.83	33	chr9	20981543	.	C	T	1553.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.578;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.306;SOR=0.713	GT:AD:DP:GQ:PL	0/1:112,65:177:99:1564,0,3013	5	0	1	0
chr9	21974530	21974531	TG	-	exonic	CDKN2A	.	frameshift deletion	CDKN2A:NM_058197:exon1:c.297_298del:p.H99Qfs*33	Melanoma and neural system tumor syndrome, Autosomal dominant;Orolaryngeal cancer, multiple (3);Pancreatic cancer/melanoma syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3180.79	33	chr9	21974529	.	CTG	C	3180.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.112;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=-1.524;SOR=0.664	GT:AD:DP:GQ:PL	0/1:81,82:163:99:3191,0,3130	5	0	1	0
chr9	35043587	35043587	T	C	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_001040410:exon2:c.T853C:p.Y285H,C9orf131:NM_001040411:exon2:c.T739C:p.Y247H,C9orf131:NM_001287391:exon2:c.T739C:p.Y247H,C9orf131:NM_203299:exon2:c.T958C:p.Y320H,C9orf131:NM_001040412:exon3:c.T814C:p.Y272H	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00473401913664	.	.	.	.	.	.	.	.	.	.	.	.	.	rs942606007	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.20381	T	0.238	0.26549	T	0.987	0.61912	D	0.748	0.55971	P	0.559261	0.11353	N	0.748306	1	0.08975	N	1.7	0.43825	L	2.31	0.16953	T	-2.17	0.49018	N	0.247	0.27910	-1.0731	0.08745	T	0.065	0.26913	T	10	0.14650226	0.27774	T	0.004734	0.11784	T	0.033	0.08068	0.305	0.27485	0.0482279557977	0.04254	0.1432727684155706	0.14250	0.0707918277514	0.07938	.	.	.	0.054057	0.29616	T	-0.294943	0.09146	T	-0.661441	0.08169	T	0.641092002391815	0.38083	D	0.530647	0.18406	T	0.07532797	0.16965	0.101601064	0.24327	0.07532797	0.16965	0.101601064	0.24326	-4.149	0.26053	T	.	.	0.203	0.43922	B	.;.;.	.;.;.	1.704920	0.21711	15.32	0.99102436232935232	0.52496	0.18961	0.20472	N	AEFDBI	.	.	.	-0.225582510425943	0.32087	1.805886	-0.39975133000384	0.25005	1.372565	0.999774434936118	0.42865	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.58	3.42	0.38259	0.998000	0.29345	0.157000	0.15360	0.665000	0.62972	0.046000	0.21249	0.000000	0.08366	0.035000	0.13729	0.0:0.0:0.1997:0.8002	8.348	0.31448	108	0.95573	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2680.83	82	chr9	35043587	.	T	C	2680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.52;DP=435;ExcessHet=0;FS=1.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.18;SOR=0.551	GT:AD:DP:GQ:PL	0/1:91,94:185:99:2691,0,2439	5	0	1	0
chr9	35650835	35650835	G	A	exonic	SIT1	.	nonsynonymous SNV	SIT1:NM_014450:exon1:c.C19T:p.R7W	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00229960675955	0.0014	0.000599042	0.0009	0.0020	0.0001	0	0	0.0013	0.0014	0	0.0008021	124	154602	rs141629430	0.0012	0.0012	0.0013	0.0012	0.0019	0.0012	0.0012	0.0016	0.0014	0.0019	0.0005	0.0003	2.528e-05	1.882e-05	0.0003	0.0015	0.0013	5.827e-05	0.0012	0.0012	0.0012	0.0012	0.0020	0.0011	0.0010	0.0016	0.0015	0.0020	0	0.0008	0.0003	0	9.423e-05	0.0034	0.0012	0.0019	0	0.086	0.32610	T	0.037	0.55759	D	0.001	0.07471	B	0.0	0.01387	B	0.989708	0.07894	N	1.007880	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.65	0.39503	N	0.125	0.38848	-1.0221	0.23031	T	0.048	0.20355	T	9	0.0067046285	0.00152	T	0.002	0.04424	T	0.021	0.04004	.	.	0.137902524267	0.13322	0.20094875266514273	0.20011	0.241909686111	0.26705	0.210994243622	0.00854	T	0.205722	0.56486	T	-0.583969	0.00182	T	-0.624838	0.10809	T	0.00905258316754071	0.00113	T	0.50295	0.15803	T	0.032211274	0.03204	0.029954815	0.01392	0.032211274	0.03204	0.029954815	0.01391	-3.567	0.17381	T	.	.	0.104	0.42346	B	.;.	.;.	0.003504	0.04306	1.086	0.82679659992228793	0.14318	0.00838	0.03362	N	AEFDGBHCI	0.044664	0.07214	N	-1.71020375134506	0.00806	0.03484544	-1.84436940179199	0.00627	0.02788465	0.999999999999995	0.74766	0.741868	0.97996	0	0.52208	0.09955	0	0.774882	0.98623	0	0.542086	0.14980	0	.	.	3.65	-7.3	0.01298	-2.955000	0.00741	-2.056000	0.04279	-0.203000	0.08628	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.5673:0.194:0.141:0.0977	3.985	0.09004	272	0.89337	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1432.83	38	chr9	35650835	.	G	A	1432.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.415;DP=298;ExcessHet=0;FS=0.751;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.928;SOR=0.749	GT:AD:DP:GQ:PL	0/1:41,63:104:99:1443,0,898	5	0	1	0
chr9	35751684	35751684	C	G	exonic	RGP1	.	nonsynonymous SNV	RGP1:NM_001080496:exon7:c.C692G:p.S231C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00625013327374	0.0007	0.000599042	0.0007	0.0003	8.642e-05	0	0	0.0011	0	0	0.0006921	107	154602	rs149109089	0.0012	0.0012	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0	0.0004	0.0004	0	1.873e-05	0.0005	0.0014	0.0011	3.478e-05	0.0008	0.0008	0.0008	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0004	0	0.0009	0.0003	0	9.418e-05	0	0.0012	0.0019	0	0.023	0.48186	D	0.037	0.51737	D	0.951	0.53992	P	0.886	0.62898	P	0.000017	0.62929	D	0.147061	0.899679	0.36141	D	1.76	0.45711	L	.	.	.	-2.83	0.59710	D	0.523	0.55280	-0.4315	0.71017	T	0.295	0.66669	T	9	0.087855965	0.15072	T	0.00625	0.16406	T	0.198	0.48105	.	.	0.37550373646	0.37164	0.6025435844289592	0.60185	0.509059477772	0.49044	0.713788747787	0.69143	T	0.305275	0.67754	T	-0.17605	0.24324	T	-0.0661928	0.65897	T	0.182628452777863	0.19400	T	0.928207	0.73493	D	0.35204923	0.57226	0.23672093	0.48951	0.35204923	0.57226	0.23672093	0.48950	-7.883	0.60270	D	.	.	0.141	0.30817	B	.	.	4.906488	0.80684	27.4	0.99232480568948067	0.56278	0.97949	0.78358	D	AEFBI	0.546758	0.56073	D	0.536133251289693	0.69242	5.329252	0.568315888784008	0.72681	5.848362	0.999999987763222	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.58	5.58	0.84361	2.623000	0.46101	7.734000	0.67822	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.579	0.91119	99	0.95913	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1368.83	44	chr9	35751684	.	C	G	1368.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.486;DP=337;ExcessHet=0;FS=4.077;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.482;SOR=0.768	GT:AD:DP:GQ:PL	0/1:82,57:139:99:1379,0,2098	5	0	1	0
chr9	35869501	35869501	C	A	exonic	OR13J1	.	nonsynonymous SNV	OR13J1:NM_001004487:exon1:c.G901T:p.A301S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0113619674219	.	.	1.65e-05	0	0	0	0	1.502e-05	0.0011	0	1.29e-05	2	154602	rs146834712	4.105e-06	4.788e-06	4.085e-06	4.126e-06	2.987e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.228	0.30509	B	0.065	0.27321	B	0.254231	0.15446	N	0.574042	1	0.08975	N	0.69	0.16971	N	1.18	0.37746	T	-1.4	0.34596	N	0.329	0.36989	-1.0353	0.18762	T	0.065	0.26702	T	10	0.17734596	0.32764	T	0.011362	0.28906	T	0.049	0.13647	0.646	0.78330	0.220303561663	0.21668	0.25676841524009536	0.25590	0.136421546733	0.15389	0.196447193623	0.00361	T	0.025317	0.18955	T	-0.293153	0.09321	T	-0.562016	0.16187	T	0.164645239710808	0.18208	T	0.257374	0.04056	T	0.14951162	0.34082	0.10592983	0.25473	0.14951162	0.34081	0.10592983	0.25472	-6.443	0.49844	T	.	.	0.110	0.21277	B	.	.	0.942994	0.13190	9.688	0.91860047590675453	0.21174	0.19538	0.20699	N	AEFDBI	0.119039	0.23251	N	-1.0290929815415	0.08004	0.3737864	-1.04822561489745	0.08744	0.4314131	0.98790695727349	0.31369	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.5	2.66	0.30672	-1.015000	0.03748	-0.178000	0.11160	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8352:0.0:0.1648	11.945	0.52209	233	0.90919	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1533.83	33	chr9	35869501	.	C	A	1533.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=300;ExcessHet=0;FS=7.744;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.96;SOR=0.576	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1544,0,1522	5	0	1	0
chr9	81988881	81988881	T	A	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon1:c.T63A:p.H21Q	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000415408630224	8.4e-05	.	0.0006	0	0.0003	0.0006	0.0008	0.0003	0.0033	0.0024	0.0004851	75	154602	rs369748541	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0023	0.0022	0	6.709e-05	0	0.0011	0.0010	0.0006	6.567e-05	0.0005	0.0026	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0	0	0.0002	0	0.0014	0.0007	0	0.0001	0	0.0023	0.114	0.28646	T	0.304	0.20100	T	0.2	0.29645	B	0.181	0.35894	B	0.024178	0.01606	N	2.464650	1	0.08975	N	1.39	0.34934	L	3.56	0.04696	T	-0.2	0.10136	N	0.188	0.20528	-1.0231	0.22704	T	0.011	0.04274	T	10	0.007183999	0.00163	T	4.15E-4	0.00078	T	0.014	0.01968	0.26	0.20315	0.0401082797425	0.02173	0.046945759448175924	0.04637	.	.	0.30914837122	0.11778	T	0.002157	0.01556	T	-0.70683	0.00033	T	-0.793637	0.02066	T	0.0263923057506649	0.01459	T	0.381662	0.09243	T	0.030499302	0.02723	0.040508	0.04392	0.030499302	0.02723	0.040508	0.04392	2.03	0.00050	T	.	.	0.145	0.31906	B	.	.	-0.263508	0.02782	0.378	0.46576605531866078	0.03741	0.00116	0.00732	N	AEFI	0.022151	0.01072	N	-1.42251075703358	0.02441	0.1078323	-1.61635843040301	0.01559	0.07065688	0.392245853065381	0.20057	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.73	-5.46	0.02404	-0.391000	0.07383	-20.000000	0.00162	-1.009000	0.01772	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5243:0.1963:0.1118:0.1676	1.379	0.02092	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005656	0.000000	0.000000	0.000000	0.000000	0.000000	0.023333	0.011905	0.08333	858.83	38	chr9	81988881	.	T	A	858.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.715;DP=245;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.083;MQ=59.77;MQRankSum=-0.585;QD=11.61;ReadPosRankSum=-1.503;SOR=0.921	GT:AD:DP:GQ:PL	0/1:37,37:74:99:869,0,897	5	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	.	.	.	.	.	.	.	.	0.1667	52.06	46	chr9	86018822	.	G	C	52.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.44;DP=301;ExcessHet=0.4139;FS=173.004;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=1.12;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,20:68:41:.:.:41,0,855:.	4	0	2	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	3429.55	310	chr9	92080918	.	G	C	3429.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.955;DP=2102;ExcessHet=11.5949;FS=412.655;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.44;SOR=13.596	GT:AD:DP:GQ:PL	0/1:203,145:380:99:858,0,3241	0	0	6	0
chr9	93134193	93134193	C	G	exonic	NINJ1	.	nonsynonymous SNV	NINJ1:NM_004148:exon1:c.G25C:p.E9Q	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	0.0020	0.00219649	0.0021	0.0168	0.0035	0	0	0.0002	0	0	0.0007244	112	154602	rs201941970	0.0005	0.0005	0.0006	0.0004	0.0132	0.0005	0.0005	0.0121	0.0117	0.0132	0.0011	0	0	4.168e-05	0.0015	0.0001	0.0017	9.033e-05	0.0041	0.0041	0.0041	0.0041	0.0136	0.0039	0.0038	0.0126	0.0123	0.0136	0	0.0031	0	0	0	0.0034	0.0001	0.0033	0.0002	0.014	0.53172	D	0.017	0.60337	D	1.0	0.90584	D	0.997	0.86255	D	0.011762	0.29407	U	0.227947	0.976852	0.39313	D	0.975	0.24501	L	0.53	0.55090	T	-0.83	0.22727	N	0.214	0.23884	-0.8421	0.52506	T	0.121	0.42144	T	10	0.0060983896	0.00137	T	.	.	.	0.073	0.21317	.	.	0.818283716425	0.81657	0.4786535745625638	0.47785	1.26252807684	0.82080	0.810478389263	0.83565	D	0.116006	0.43503	T	-0.36588	0.03808	T	-0.287306	0.46051	T	0.0582117641216712	0.06884	T	0.693931	0.30359	T	0.13014543	0.30377	0.13209395	0.31706	0.13014543	0.30376	0.13209395	0.31705	-3.715	0.19540	T	.	.	0.222	0.45347	B	.	.	4.242567	0.64330	24.7	0.99735065545166901	0.83047	0.69178	0.34085	D	AEFDBHCI	0.123036	0.23846	N	0.246704199755835	0.53474	3.516279	0.177195423817999	0.48600	3.073773	0.999999999902927	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.12	3.12	0.34986	0.162000	0.16318	3.721000	0.39586	0.466000	0.21733	0.003000	0.16062	1.000000	0.68203	0.797000	0.37605	0.0:1.0:0.0:0.0	11.969	0.52342	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002094	0.000000	0.002786	0.003049	0.000000	0.008929	0.000000	0.000000	0.08333	195.83	38	chr9	93134193	.	C	G	195.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.72;DP=136;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.171;SOR=1.075	GT:AD:DP:GQ:PL	0/1:9,6:15:99:206,0,189	5	0	1	0
chr9	104535945	104535945	G	A	exonic	OR13C3	.	nonsynonymous SNV	OR13C3:NM_001001961:exon1:c.C869T:p.A290V	.	427	1086	9	0	0	9	0.00412655	.	.	.	2673512	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00653439909981	0.0004	0.000199681	0.0002	0.0011	0	0	0	0.0001	0.0011	6.057e-05	0.0001488	23	154602	rs147645466	6.088e-05	6.156e-05	6.398e-05	5.776e-05	0.0011	5.028e-05	4.672e-05	0.0008	0.0007	0.0011	0	0	2.519e-05	0	0.0005	3.597e-05	0.0001	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	0	0.0003	0	0	0	4.412e-05	0	0	0.246	0.17353	T	0.265	0.22694	T	0.199	0.29618	B	0.036	0.22909	B	0.065944	0.21844	N	0.329934	0.98879	0.24371	N	-0.58	0.02282	N	1.29	0.35775	T	0.44	0.03243	N	0.448	0.48596	-1.0711	0.09173	T	0.034	0.14596	T	10	0.018723935	0.00410	T	0.006534	0.17215	T	0.070	0.20419	.	.	0.317378411342	0.31341	0.07118111380842833	0.07055	0.0804840077464	0.09054	0.281641721725	0.07723	T	2.0E-4	0.00038	T	-0.447981	0.01161	T	-0.472618	0.25235	T	0.0320151771118953	0.02308	T	0.814719	0.46890	T	0.0592777	0.12027	0.0813851	0.18491	0.0592777	0.12027	0.0813851	0.18490	-3.024	0.10442	T	.	.	0.121	0.24967	B	.;.	.;.	3.030376	0.40590	21.2	0.89025553883385522	0.18449	0.29156	0.23747	N	AEFI	0.099531	0.20034	N	-0.551695527151666	0.20431	1.076963	-0.462160937750342	0.23205	1.264242	3.62390119953664E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	2.82	0.32061	1.199000	0.31842	-0.264000	0.10402	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.450000	0.27895	0.176:0.2032:0.6209:0.0	4.474	0.11143	665	0.61472	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	.	.	.	.	.	.	.	.	0.08333	2001.83	34	chr9	104535945	.	G	A	2001.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.961;DP=334;ExcessHet=0;FS=3.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.602;SOR=0.438	GT:AD:DP:GQ:PL	0/1:80,80:160:99:2012,0,2063	5	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	743.02	87	chr9	106974250	.	T	C	743.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.647;DP=598;ExcessHet=1.383;FS=389.593;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.89;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,47:152:99:0|1:106974250_T_C:702,0,3199:106974250	3	0	3	0
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	734.89	37	chr9	106974252	.	G	A	734.89	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.601;DP=532;ExcessHet=1.383;FS=389.593;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,47:152:99:0|1:106974250_T_C:702,0,3199:106974250	4	0	2	0
chr9	109320412	109320412	C	A	exonic	EPB41L4B	.	nonsynonymous SNV	EPB41L4B:NM_001385623:exon1:c.G35T:p.R12L,EPB41L4B:NM_018424:exon1:c.G35T:p.R12L,EPB41L4B:NM_019114:exon1:c.G35T:p.R12L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.141143720582	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1360779247	1.304e-05	2.189e-05	1.549e-05	1.021e-05	1.301e-05	6.99e-06	5.11e-06	6.58e-06	4.79e-06	0	0	0	0	0	0	1.301e-05	3.61e-05	0	6.846e-06	6.662e-06	1.333e-05	0	2.451e-05	0	0	.	.	2.451e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.005	0.74150	D	0.957	0.54824	D	0.159	0.34953	B	.	.	.	.	0.810829	0.34638	D	1.24	0.30952	L	-1.99	0.86722	D	-4.58	0.78976	D	0.155	0.16028	-0.4339	0.70936	T	0.360	0.72163	T	9	0.20545709	0.36773	T	0.141144	0.82357	D	0.262	0.57482	0.314	0.28935	0.618321381115	0.61523	0.5463969424117097	0.54565	2.42736044518	0.97262	0.838486433029	0.87864	D	0.190108	0.54454	T	0.0698303	0.60828	D	-0.13747	0.60337	T	0.971236526966095	0.69241	D	0.721828	0.33531	T	0.47485328	0.65587	0.60286313	0.76921	0.47485328	0.65588	0.60286313	0.76922	-15.526	0.97537	D	.	.	0.915	0.83809	P	.;.	.;.	3.835630	0.55468	23.6	0.97913293265833767	0.36829	0.38293	0.25956	N	ALL	0.155426	0.28062	N	-0.473249472689977	0.22960	1.229623	-0.594728230412134	0.19629	1.054055	0.999999999977658	0.74766	0.422189	0.06491	0	0.600433	0.49495	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	1.43	0.322	0.15131	0.291000	0.18748	4.755000	0.44682	0.240000	0.18237	0.015000	0.19116	1.000000	0.68203	0.762000	0.36218	0.2347:0.7653:0.0:0.0	8.396	0.31720	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	.	.	.	.	.	.	.	.	0.1667	144.56	11	chr9	109320412	.	C	A	144.56	.	AC=2;AF=0.167;AN=12;DP=43;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=24.09;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:164,18,0	5	1	0	0
chr9	113322875	113322875	G	A	exonic	WDR31	.	nonsynonymous SNV	WDR31:NM_001006615:exon6:c.C131T:p.T44I,WDR31:NM_001012361:exon7:c.C506T:p.T169I,WDR31:NM_145241:exon7:c.C503T:p.T168I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0686388016821	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269798587	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.987e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0	1.799e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.01	0.65419	D	0.009	0.67890	D	0.963	0.57185	D	0.79	0.61644	P	0.026030	0.25988	N	0.432444	0.955954	0.37950	D	2.205	0.62170	M	-0.39	0.69158	T	-4.15	0.76496	D	0.638	0.65074	-0.0163	0.81916	T	0.431	0.77271	T	10	0.7746512	0.77360	D	0.068639	0.70508	D	0.490	0.77720	0.836	0.94356	0.867892837264	0.86661	0.5192266776445681	0.51845	0.475490453189	0.46723	0.434842884541	0.29872	T	0.046233	0.27362	T	-0.00485686	0.50982	T	-0.244753	0.50332	T	0.985506892204285	0.76478	D	0.919108	0.81930	D	0.23918046	0.46805	0.27071345	0.52965	0.23918046	0.46805	0.27071345	0.52964	-10.823	0.78957	D	.	.	0.305	0.73583	B	.;.;.;.	.;.;.;.	3.404412	0.47195	22.4	0.99866248802034951	0.94457	0.93718	0.58992	D	AEFDBIJ	0.352853	0.44547	N	0.340099124533668	0.58220	3.992925	0.283100416835468	0.54554	3.619884	0.838539996787476	0.24823	0.549168	0.22868	0	0.610034	0.51514	0	0.590023	0.30420	0	0.616125	0.45549	0	.	.	5.95	1.92	0.24912	2.321000	0.43465	2.120000	0.30714	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.4882:0.5118:0.0	17.742	0.88318	823	0.40596	.;WD40 repeat, conserved site|WD40-repeat-containing domain;.;WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1599.83	35	chr9	113322875	.	G	A	1599.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.39;DP=297;ExcessHet=0;FS=0.691;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.058;SOR=0.579	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1610,0,1556	5	0	1	0
chr9	127826641	127826641	G	A	exonic	ENG	.	nonsynonymous SNV	ENG:NM_000118:exon4:c.C392T:p.P131L,ENG:NM_001114753:exon4:c.C392T:p.P131L	Telangiectasia, hereditary hemorrhagic, type 1, Autosomal dominant	1	1490	29	2	0	33	0.0109525	.	.	YES	171113	not_specified|Galloway-Mowat_syndrome_1|Hereditary_hemorrhagic_telangiectasia|not_provided|Cardiovascular_phenotype|Telangiectasia,_hereditary_hemorrhagic,_type_1|Haemorrhagic_telangiectasia_1	MedGen:CN169374|MONDO:MONDO:0033005,MedGen:C4551772,OMIM:251300,Orphanet:2065,Orphanet:83472|MONDO:MONDO:0019180,MedGen:C0039445,OMIM:PS187300,Orphanet:774|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0008535,MedGen:C4551861,OMIM:187300,Orphanet:774|MedGen:CN221549	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.315	.	0.0015	0.00978435	0.0052	9.654e-05	0.0017	0.0003	0	0.0022	0.0067	0.0269	0.0045407	702	154602	rs139398993	0.0027	0.0027	0.0020	0.0035	0.0253	0.0027	0.0026	0.0244	0.0240	0.0003	0.0014	0.0129	2.519e-05	0.0003	0.0075	0.0010	0.0041	0.0253	0.0019	0.0019	0.0016	0.0023	0.0278	0.0017	0.0017	0.0240	0.0225	0.0002	0	0.0011	0.0127	0	0	0.0170	0.0011	0.0047	0.0278	0.116	0.28395	T	0.25	0.24477	T	0.066	0.23586	B	0.008	0.13708	B	0.158185	0.03017	N	1.717780	1	0.08975	N	1.43	0.35840	L	0.9	0.45248	T	-2.56	0.58085	D	0.111	0.09772	-1.0858	0.06263	T	0.055	0.23186	T	10	0.004237145	0.00085	T	.	.	.	0.315	0.63694	.	.	0.957343472108	0.95689	0.15973072449715275	0.15894	0.216395018331	0.24162	0.216936454177	0.01140	T	0.47568	0.80663	T	-0.384761	0.02906	T	-0.306535	0.44030	T	0.019841128319154	0.00686	T	0.670533	0.27914	T	0.21753049	0.44238	0.10225967	0.24504	0.14443575	0.33154	0.06372603	0.12667	-3.186	0.12926	T	0.1357352446639921	0.14780	0.073	0.04847	B	.;.	.;.	0.258399	0.06370	2.835	0.59896640418665048	0.06333	0.09144	0.14958	N	AEFDGBCI	0.254113	0.37349	N	-1.00612380666056	0.08476	0.3975567	-1.08413496547034	0.08012	0.392135	0.999998740040652	0.74766	0.722319	0.85440	0	0.694456	0.67091	0	0.654045	0.52621	0	0.735409	0.98432	0	.	.	5.22	-1.86	0.07340	-0.056000	0.11744	-0.247000	0.10539	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.219:0.2375:0.3007:0.2428	0.602	0.00699	358	0.85037	.;.	.	.	.	.	.	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	0.009100	0.005102	0.005435	0.008772	0.050000	0.000000	0.015528	0.018939	0.08333	1005.83	33	chr9	127826641	.	G	A	1005.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.54;DP=245;ExcessHet=0;FS=3.248;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.435;SOR=0.826	GT:AD:DP:GQ:PL	0/1:35,34:69:99:1016,0,805	5	0	1	0
chr9	128946673	128946673	G	A	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.C631T:p.R211C	Congenital disorder of glycosylation, type Im, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	101544	not_provided|DK1-congenital_disorder_of_glycosylation|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.0357950066277	0.0028	0.00139776	0.0018	0.0013	0.0017	0	0.0006	0.0024	0	0.0011	0.0019146	296	154602	rs145310298	0.0034	0.0034	0.0035	0.0033	0.0041	0.0033	0.0033	0.0040	0.0039	0.0005	0.0022	3.826e-05	0	0.0005	0.0016	0.0041	0.0036	0.0010	0.0023	0.0023	0.0027	0.0019	0.0036	0.0021	0.0020	0.0031	0.0030	0.0009	0	0.0036	0	0	0.0007	0.0068	0.0035	0.0043	0.0006	0.181	0.21884	T	0.148	0.32675	T	0.588	0.38987	P	0.103	0.30945	B	0.006107	0.32266	N	0.248173	1	0.81001	D	2.14	0.59869	M	-2.43	0.88689	D	0.49	0.02993	N	0.245	0.27673	-0.4172	0.71481	T	0.351	0.71454	T	10	0.015254825	0.00320	T	0.035795	0.56579	D	0.591	0.83691	.	.	0.853481155907	0.85206	0.6037860347003077	0.60309	0.507186606807	0.48905	0.581625282764	0.50314	T	0.173423	0.52229	T	-0.153905	0.27703	T	0.0072411	0.70805	D	0.0140418310002991	0.00272	T	0.970903	0.89563	D	0.066901065	0.14438	0.055882383	0.09886	0.066901065	0.14438	0.055882383	0.09885	-4.295	0.28107	T	.	.	0.201	0.42549	B	.	.	4.216870	0.63755	24.6	0.94934467679695023	0.25822	0.88013	0.47759	D	AEFGBCI	0.686747	0.64832	D	-0.0295646826244289	0.40520	2.407741	0.0919525540205277	0.44143	2.701793	0.99999993302508	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	5.26	4.36	0.51643	3.346000	0.51907	6.196000	0.54830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1654:0.0:0.8346:0.0	9.095	0.35795	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	5252.83	33	chr9	128946673	.	G	A	5252.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=589;ExcessHet=0;FS=0.518;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.849;SOR=0.725	GT:AD:DP:GQ:PL	0/1:211,196:407:99:5263,0,5366	5	0	1	0
chr9	130325928	130325928	A	G	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon21:c.A3151G:p.T1051A	.	877	637	8	0	0	8	0.00624025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891064588	0.0147	0.0001	0	0.0208	0.2500	0	0	.	.	0	0	0	.	0	0	0	0	0.2500	0.0012	0.0012	0.0011	0.0013	0.0120	0.0010	0.0010	0.0096	0.0087	0.0003	0	0.0009	0.0032	0	0.0002	0.0068	0.0012	0.0005	0.0120	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.009094477	0.00206	T	.	.	.	.	.	.	.	.	.	0.06579819546016917	0.06518	.	.	.	.	.	4.93E-4	0.00182	T	.	.	.	.	.	.	.	.	.	0.630137	0.24876	T	.	.	.	.	.	.	.	.	-2.494	0.05740	T	.	.	0.051	0.00543	B	.;.	.;.	-0.121758	0.03515	0.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.424000	0.07093	-0.330000	0.09897	-0.142000	0.12367	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	.	.	.	657	0.62240	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1450.83	38	chr9	130325928	.	A	G	1450.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.5;DP=318;ExcessHet=0;FS=5.849;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.886;SOR=1.22	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1461,0,1912	5	0	1	0
chr9	133071303	133071303	G	C	exonic	CEL	.	nonsynonymous SNV	CEL:NM_001807:exon11:c.G1801C:p.A601P	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	115	1368	29	5	5	44	0.0140541	.	.	.	1184208	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.212	.	.	.	0.4112	0	0.2	0	.	0.3333	0	0.4727	0.0015006	232	154602	rs756704908	0.0080	0.0062	0.0070	0.0089	0.0279	0.0078	0.0077	0.0266	0.0261	0.0012	0.0046	0.0171	0.0008	0.0072	0.0214	0.0057	0.0072	0.0279	0.0027	0.0039	0.0026	0.0029	0.0139	0.0024	0.0023	0.0093	0.0078	0.0005	0.0034	0.0028	0.0101	0.0008	0.0019	0	0.0031	0.0032	0.0139	0.003	0.68238	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.45	0.69896	T	-0.46	0.14978	N	0.12	0.11054	-0.7390	0.58504	T	0.328	0.69631	T	9	0.002461046	0.00037	T	.	.	.	0.212	0.50341	.	.	.	.	0.07351690158995682	0.07288	1.00469648732	0.74536	0.776454806328	0.78393	T	0.019292	0.15396	T	-0.399635	0.02328	T	-0.319665	0.42611	T	0.0485864028472388	0.05248	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24599	B	.	.	2.200563	0.28064	17.67	0.9907478307719837	0.51810	0.03018	0.07894	N	AEFHCI	0.147376	0.27103	N	-0.586236619627421	0.19362	1.012727	-0.849127286812922	0.13309	0.6896853	0.117021367542883	0.16792	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.13	-0.24	0.12403	0.089000	0.14843	0.179000	0.15609	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2463:0.1872:0.3758:0.1907	0.667	0.00798	962	0.08456	Mucin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015977	0.000000	0.013812	0.034091	0.000000	0.000000	0.012346	0.024590	0.08333	384.85	26	chr9	133071303	.	G	C	384.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.813;DP=102;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.59;MQRankSum=1.88;QD=24.05;ReadPosRankSum=-1.337;SOR=2.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,12:16:99:0|1:133071303_G_C:395,0,129:133071303	5	0	1	0
chr9	133336041	133336041	C	G	exonic	SURF6	.	nonsynonymous SNV	SURF6:NM_001278942:exon1:c.G92C:p.R31P,SURF6:NM_006753:exon1:c.G92C:p.R31P	.	431	1089	2	0	0	2	0.000917431	0.0003	0.04	.	2360945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0269648490655	7.7e-05	.	0.0001	0	8.696e-05	0	0	0.0001	0	0.0004	9.7e-05	15	154602	rs376694534	8.569e-05	8.619e-05	6.413e-05	0.0001	0.0007	7.328e-05	6.83e-05	0.0005	0.0005	0	2.237e-05	0	0	0	0.0002	5.127e-05	0.0001	0.0007	5.907e-05	5.905e-05	2.569e-05	9.394e-05	0.0002	3.074e-05	2.208e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.199	0.20456	T	0.119	0.36101	T	0.494	0.37037	P	0.105	0.31087	B	0.559293	0.11353	N	0.812784	0.999921	0.19486	N	1.355	0.33814	L	2.48	0.14657	T	-0.09	0.08340	N	0.078	0.05287	-0.9956	0.31136	T	0.017	0.06950	T	10	0.040412307	0.02607	T	0.026965	0.49829	D	0.014	0.01968	.	.	0.265929055128	0.26215	0.09557347173259692	0.09489	0.797162294829	0.66084	0.239780694246	0.02771	T	0.008998	0.08221	T	-0.513761	0.00478	T	-0.633027	0.10187	T	0.14006247906551	0.16280	T	0.444256	0.12390	T	0.1428249	0.32851	0.12365405	0.29814	0.1428249	0.32850	0.12365405	0.29813	-1.977	0.03095	T	.	.	0.097	0.15743	B	.	.	1.984834	0.25217	16.68	0.86278701801214985	0.16430	0.00569	0.02581	N	AEFGBHCIJ	0.235994	0.35851	N	-0.733790988952806	0.15077	0.7566664	-0.802282683916515	0.14441	0.754518	0.99999999866975	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.79	1.73	0.23565	1.163000	0.31408	4.157000	0.42186	0.549000	0.26987	0.202000	0.24332	0.898000	0.27928	0.020000	0.11549	0.2902:0.3768:0.2027:0.1303	1.260	0.01879	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	630.83	35	chr9	133336041	.	C	G	630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=204;ExcessHet=0;FS=4.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.611;SOR=1.493	GT:AD:DP:GQ:PL	0/1:25,25:50:99:641,0,562	5	0	1	0
chr9	133433657	133433657	C	T	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon11:c.C1261T:p.R421C,ADAMTS13:NM_139026:exon11:c.C1168T:p.R390C,ADAMTS13:NM_139027:exon11:c.C1261T:p.R421C	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1502	18	2	0	22	0.00727032	.	.	.	444392	Upshaw-Schulman_syndrome|not_specified|not_provided|See_cases	MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.156	0.161417377144	0.0006	.	0.0007	9.649e-05	0.0010	0	0.0002	0.0008	0	0.0015	0.0006145	95	154602	rs145825553	0.0006	0.0006	0.0005	0.0006	0.0035	0.0005	0.0005	0.0023	0.0019	5.974e-05	0.0010	0.0001	2.519e-05	7.506e-05	0.0035	0.0005	0.0007	0.0017	0.0004	0.0004	0.0005	0.0003	0.0010	0.0003	0.0003	0.0006	0.0005	7.248e-05	0	0.0010	0	0	0.0002	0	0.0005	0.0005	0.0010	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.93	0.66466	D	.	.	.	.	0.999996	0.19781	N	2.605	0.76211	M	0.61	0.53516	T	-5.3	0.84387	D	0.497	0.53006	-0.6004	0.64801	T	0.338	0.70412	T	9	0.15165132	0.28660	T	0.161417	0.84121	D	0.156	0.40720	.	.	0.875601714417	0.87439	0.7225934449380197	0.72203	1.20868943995	0.80773	0.342240482569	0.16773	T	0.291881	0.66462	T	-0.371473	0.03520	T	-0.319602	0.42618	T	0.0816198752228164	0.10193	T	0.965803	0.87368	D	0.3054312	0.53387	0.28948033	0.54967	0.3054312	0.53387	0.28948033	0.54967	-11.204	0.80764	D	.	.	0.242	0.57616	B	.;.;.;.	.;.;.;.	5.305534	0.89070	29.8	0.99915009724311221	0.98309	0.61498	0.31502	D	AEFDGBHCI	0.411289	0.48182	N	0.505556900288663	0.67418	5.07897	0.386940753935282	0.60758	4.267194	0.999984610956705	0.51787	0.653496	0.48692	0	0.61073	0.52368	0	0.596874	0.31795	0	0.567892	0.33627	0	.	.	4.88	4.88	0.63131	2.205000	0.42407	7.441000	0.58873	0.599000	0.40250	0.959000	0.33545	0.928000	0.28476	0.977000	0.56843	0.1513:0.8487:0.0:0.0	14.022	0.64078	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	1583.83	40	chr9	133433657	.	C	T	1583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.43;DP=334;ExcessHet=0;FS=2.093;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.462;SOR=0.875	GT:AD:DP:GQ:PL	0/1:80,63:143:99:1594,0,2131	5	0	1	0
chr9	135562292	135562292	A	G	splicing	PAEP	NM_001018049:exon2:c.97-2A>G;NM_002571:exon2:c.97-2A>G	.	.	.	.	.	.	.	.	.	.	0.9999	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1468120421	6.844e-07	1.368e-06	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.780217	0.29341	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2238	0.17477	T	-0.55925	0.16447	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.727936	0.76118	26.5	0.89133411473613999	0.18539	0.42555	0.26903	N	AEFDBCI	.	.	.	0.448409466569445	0.64112	4.658697	0.10185772480376	0.44643	2.742119	0.959148095899434	0.28407	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.135754	0.26321	1.32	1.32	0.20897	1.719000	0.37633	2.255000	0.31717	0.686000	0.82685	0.973000	0.34540	0.959000	0.29258	0.405000	0.26894	1.0:0.0:0.0:0.0	4.770	0.12523	518	0.74548	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1300.83	33	chr9	135562292	.	A	G	1300.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.515;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.076;SOR=0.719	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1311,0,1594	5	0	1	0
chr9	135946332	135946332	C	T	exonic	UBAC1	.	nonsynonymous SNV	UBAC1:NM_016172:exon5:c.G481A:p.E161K	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0213328604284	0.0016	0.000998403	0.0017	0.0006	0.0003	0	0.0026	0.0022	0.0011	0.0018	0.0017141	265	154602	rs149136617	0.0021	0.0021	0.0020	0.0021	0.0022	0.0020	0.0020	0.0021	0.0021	0.0003	0.0005	0.0044	2.519e-05	0.0042	0.0007	0.0022	0.0013	0.0019	0.0018	0.0018	0.0017	0.0018	0.0024	0.0016	0.0015	0.0021	0.0020	0.0006	0	0.0003	0.0052	0	0.0043	0	0.0024	0.0009	0.0017	0.253	0.16958	T	0.018	0.59732	D	0.993	0.65571	D	0.631	0.51788	P	0.000001	0.62929	N	0.095800	1	0.81001	D	2.5	0.72771	M	1.8	0.25344	T	-1.73	0.41046	N	0.39	0.43126	-1.0724	0.08894	T	0.092	0.35038	T	10	0.0114097595	0.00249	T	0.021333	0.44082	T	0.118	0.32913	.	.	0.102598925029	0.09809	0.60073382262186	0.60004	0.283620578612	0.30797	0.757285177708	0.75525	T	0.019119	0.15291	T	-0.503381	0.00547	T	-0.493514	0.23024	T	0.0329544500219423	0.02463	T	0.886711	0.61387	D	0.07204436	0.15996	0.12689148	0.30554	0.07204436	0.15996	0.12689148	0.30553	-11.009	0.79707	D	.	.	0.329	0.55152	B	.	.	3.679426	0.52360	23.2	0.99893115862319015	0.96666	0.96090	0.67487	D	AEFDGBCIJ	0.431706	0.49388	N	0.0966408026077019	0.46304	2.872978	0.0302086204382537	0.41125	2.465512	0.999999987941307	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	3.11	0.34883	4.410000	0.59530	3.864000	0.40152	-0.313000	0.06017	1.000000	0.71638	0.999000	0.35428	0.869000	0.41347	0.0:0.7644:0.1479:0.0877	8.776	0.33919	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1843.83	41	chr9	135946332	.	C	T	1843.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.277;DP=358;ExcessHet=0;FS=1.384;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.633;SOR=0.722	GT:AD:DP:GQ:PL	0/1:60,71:131:99:1854,0,1534	5	0	1	0
chr9	137216124	137216124	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon12:c.C1483T:p.R495W,NDOR1:NM_001144026:exon13:c.C1612T:p.R538W,NDOR1:NM_001144028:exon13:c.C1564T:p.R522W,NDOR1:NM_014434:exon13:c.C1585T:p.R529W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.366154118253	.	.	2.49e-05	0	0	0	0	4.547e-05	0	0	1.94e-05	3	154602	rs772586457	1.095e-05	1.094e-05	9.533e-06	1.238e-05	0.0001	6.48e-06	5.25e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	5.396e-06	0	0.0001	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.007	0.65419	D	0.012	0.69154	D	0.998	0.73220	D	0.84	0.60170	P	0.137729	0.18403	N	0.511199	0.966999	0.38566	D	1.355	0.33814	L	-2.26	0.87352	D	-3.84	0.75375	D	0.502	0.62950	0.235	0.86502	D	0.669	0.88531	D	10	0.7511705	0.75648	D	0.366154	0.92633	D	0.511	0.79033	0.679	0.81691	0.848258187161	0.84680	0.5958920508438711	0.59519	0.676876934702	0.59801	0.405906617641	0.25890	T	0.267882	0.63995	T	-0.0132005	0.49816	T	-0.149081	0.59324	T	0.760704100131989	0.43892	D	0.906209	0.71352	D	0.16519989	0.36777	0.1655091	0.38285	0.16519989	0.36776	0.1655091	0.38284	-4.924	0.49079	T	.	.	0.135	0.29339	B	.;.;.;.	.;.;.;.	4.434137	0.68789	25.3	0.99700309394144704	0.80591	0.23526	0.22104	N	AEFDGBI	0.319144	0.42263	N	-0.120687133850886	0.36492	2.110093	-0.187956920831399	0.31978	1.814861	0.999994734446183	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.06	3.12	0.34986	0.440000	0.21309	1.761000	0.28554	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.823000	0.38780	0.1973:0.8027:0.0:0.0	10.394	0.43374	988	0.01987	.;.;.;Oxidoreductase FAD/NAD(P)-binding|Flavoprotein pyridine nucleotide cytochrome reductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1121.83	43	chr9	137216124	.	C	T	1121.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.5;DP=268;ExcessHet=0;FS=0.965;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17;ReadPosRankSum=0.767;SOR=0.846	GT:AD:DP:GQ:PL	0/1:30,36:66:99:1132,0,775	5	0	1	0
chr10	3138965	3138965	G	C	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon22:c.C2562G:p.I854M,PITRM1:NM_001347725:exon23:c.C2658G:p.I886M,PITRM1:NM_001347726:exon23:c.C2043G:p.I681M,PITRM1:NM_001347730:exon23:c.C2634G:p.I878M,PITRM1:NM_001242307:exon25:c.C2859G:p.I953M,PITRM1:NM_001347727:exon25:c.C2241G:p.I747M,PITRM1:NM_001347728:exon25:c.C1551G:p.I517M,PITRM1:NM_001347729:exon25:c.C2832G:p.I944M,PITRM1:NM_014889:exon25:c.C2856G:p.I952M	.	436	1051	34	1	0	36	0.0168382	.	.	.	701321	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.283	.	0.0072	0.00698882	0.0076	0.0018	0.0042	0.0092	0.0005	0.0076	0.0167	0.0148	0.0076066	1176	154602	rs2279219	0.0085	0.0085	0.0082	0.0088	0.0239	0.0084	0.0083	0.0207	0.0194	0.0017	0.0039	0.0188	0.0107	0.0012	0.0239	0.0083	0.0096	0.0149	0.0055	0.0055	0.0059	0.0051	0.0133	0.0052	0.0051	0.0106	0.0097	0.0013	0	0.0037	0.0153	0.0106	0.0011	0.0340	0.0076	0.0066	0.0133	0.002	0.78490	D	0.006	0.76473	D	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.048486	0.982543	0.39905	D	3.15	0.88382	M	2.78	0.11298	T	-2.06	0.50502	N	0.733	0.73375	-0.9028	0.47694	T	0.030	0.13023	T	10	0.0075713396	0.00172	T	.	.	.	0.283	0.60100	.	.	0.292787519742	0.28880	0.7876777912847144	0.78719	0.339281541877	0.35884	0.36477342248	0.20078	T	0.03237	0.22457	T	-0.406594	0.02095	T	-0.344497	0.39833	T	0.0919633649975755	0.11448	T	0.928507	0.76748	D	0.5679132	0.70946	0.32878715	0.58764	0.5679132	0.70947	0.32878715	0.58764	-8.724	0.65903	D	.	.	0.099	0.43815	B	.;.;.;.;.	.;.;.;.;.	-0.572070	0.01650	0.116	0.99290081191233992	0.58219	0.46315	0.27733	N	AEFGBCI	0.232223	0.35533	N	-0.67583953480814	0.16711	0.8538296	-0.985766165152834	0.10104	0.5068272	0.99999997108151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	-10.1	0.00330	-1.340000	0.02756	-3.074000	0.03084	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2486:0.1044:0.4286:0.2184	3.335	0.06681	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	3500.03	51	chr10	3138965	.	G	C	3500.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.91;DP=419;ExcessHet=1.383;FS=9.383;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.474;SOR=1.169	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1267,0,1300	3	0	3	0
chr10	3782052	3782052	T	C	exonic	KLF6	.	nonsynonymous SNV	KLF6:NM_001160124:exon2:c.A265G:p.T89A,KLF6:NM_001160125:exon2:c.A265G:p.T89A,KLF6:NM_001300:exon2:c.A265G:p.T89A	Gastric cancer, somatic;Prostate cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00357642783364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.03373	T	0.765	0.04982	T	0.0	0.02946	B	0.0	0.04355	B	0.073544	0.21339	N	0.533444	0.999985	0.18198	N	-1.24	0.00794	N	3.49	0.50459	T	-0.07	0.13226	N	0.027	0.00571	-1.0213	0.23292	T	0.029	0.12278	T	10	0.0272474	0.00874	T	0.003576	0.08154	T	0.036	0.09122	0.156	0.05964	0.336424232111	0.33258	0.19729649530202537	0.19646	0.819905421968	0.67108	0.278014034033	0.07217	T	0.276623	0.64921	T	-0.35551	0.04390	T	-0.748442	0.03546	T	0.0367035965253798	0.03104	T	0.421058	0.12757	T	0.017735535	0.00298	0.012796361	0.00000	0.017735535	0.00298	0.012796361	0.00000	-3.755	0.20134	T	.	.	0.099	0.16800	B	.;.;.	.;.;.	0.200807	0.05855	2.297	0.18610076326475888	0.00592	0.24813	0.22509	N	AEFDBHCIJ	0.160622	0.28658	N	-1.63857856656847	0.01084	0.04705385	-1.5772317000749	0.01795	0.0817142	0.999999999960677	0.74766	0.751926	0.98777	0	0.52208	0.09955	0	0.639134	0.45391	0	0.56214	0.19341	0	.	.	4.91	-4.37	0.03381	0.531000	0.22759	-1.189000	0.06074	-1.516000	0.01010	0.999000	0.42656	0.000000	0.08366	0.000000	0.00833	0.4168:0.0832:0.2428:0.2572	1.482	0.02292	982	0.03397	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1326.83	36	chr10	3782052	.	T	C	1326.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.716;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.45;SOR=0.687	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1337,0,1325	5	0	1	0
chr10	5749335	5749335	C	G	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.C5671G:p.Q1891E,TASOR2:NM_017782:exon15:c.C5914G:p.Q1972E,TASOR2:NM_001321783:exon16:c.C5914G:p.Q1972E,TASOR2:NM_001321784:exon16:c.C5914G:p.Q1972E	.	434	1084	4	0	0	4	0.00184162	.	.	.	3324503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.00474600034647	.	0.000399361	8.29e-05	0	0.0002	0.0003	0	1.501e-05	0.0011	0.0002	7.76e-05	12	154602	rs191866446	6.704e-05	6.704e-05	4.764e-05	8.663e-05	0.0007	5.628e-05	5.171e-05	0.0005	0.0005	8.961e-05	2.236e-05	0	0.0007	0	0	1.799e-05	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0021	8.161e-05	6.718e-05	0.0012	0.0009	7.215e-05	0	0	0	0.0021	0	0	2.94e-05	0	0.0006	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000011	0.62929	D	0.000000	0.973254	0.39010	D	2.34	0.67151	M	3.2	0.07236	T	-0.84	0.22944	N	0.466	0.50237	-1.2025	0.00132	T	0.070	0.28577	T	10	0.0635927	0.08306	T	0.004746	0.11816	T	0.202	0.48754	.	.	0.266724437049	0.26276	0.49904007627170066	0.49825	0.272122387296	0.29726	0.383365750313	0.22732	T	0.119771	0.44153	T	-0.339938	0.05392	T	-0.36304	0.37700	T	0.149849353029152	0.17092	T	0.835616	0.50622	T	0.17523038	0.38371	0.3280949	0.58702	0.17523038	0.38371	0.3280949	0.58701	-2.579	0.06345	T	.	.	0.118	0.43186	B	.;.	.;.	4.266643	0.64883	24.8	0.9954827777622921	0.70961	0.94329	0.60819	D	AEFBCI	0.434324	0.49542	N	0.738559775080888	0.82158	7.69408	0.750072832408672	0.86162	8.802024	0.999999999991848	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.362000	0.65850	7.634000	0.62871	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	20.219	0.98325	543	0.72751	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1316.83	37	chr10	5749335	.	C	G	1316.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.386;DP=310;ExcessHet=0;FS=1.5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.5;SOR=0.538	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1327,0,1562	5	0	1	0
chr10	12089191	12089191	G	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon5:c.G923A:p.R308H	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	9	1512	1	0	0	1	0.000330579	.	.	.	569524	Inborn_genetic_diseases|2-aminoadipic_2-oxoadipic_aciduria	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0916659948144	7.7e-05	0.000199681	0.0001	0	0	0.0005	0.0005	3.001e-05	0.0033	0.0002	0.00011	17	154602	rs17849603	7.183e-05	7.182e-05	5.989e-05	8.388e-05	0.0006	6.047e-05	5.595e-05	0.0004	0.0004	2.987e-05	0	3.826e-05	0.0004	3.745e-05	0.0002	2.518e-05	0.0001	0.0006	7.224e-05	7.218e-05	5.14e-05	9.401e-05	0.0004	3.969e-05	3.126e-05	7.29e-05	3.029e-05	0	0	0.0001	0	0.0002	0.0002	0	5.88e-05	0	0.0004	0.131	0.36509	T	0.215	0.32783	T	0.842	0.46562	P	0.553	0.49313	P	0.033677	0.24868	N	0.417546	1	0.08975	N	0.91	0.23283	L	2.49	0.90622	T	-1.21	0.40850	N	0.215	0.24010	-0.2815	0.75500	T	0.587	0.85193	D	10	0.051202178	0.04966	T	0.091666	0.75749	D	0.091	0.26358	.	.	0.677721526675	0.67498	0.48435527858761407	0.48355	0.143373875774	0.16180	0.285297036171	0.08241	T	0.19487	0.55078	T	-0.189424	0.22341	T	-0.153494	0.58933	T	0.0335003462052224	0.02554	T	0.934707	0.75503	D	0.09166513	0.21486	0.060785774	0.11633	0.09166513	0.21485	0.060785774	0.11632	-7.992	0.61016	D	0.17024256293042936	0.21393	0.076	0.19316	B	.;.;.	.;.;.	2.636325	0.34295	19.59	0.99666949916125036	0.78330	0.20931	0.21221	N	AEFDBI	0.350098	0.44366	N	-0.305237127621016	0.28949	1.601076	-0.420973824878738	0.24383	1.334867	0.00169820191311203	0.08790	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.43	3.19	0.35720	1.989000	0.40328	4.305000	0.42952	0.676000	0.76740	0.014000	0.18986	0.966000	0.29516	0.017000	0.10941	0.178:0.0:0.5744:0.2475	5.928	0.18357	679	0.60090	Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	1904.83	33	chr10	12089191	.	G	A	1904.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.36;DP=350;ExcessHet=0;FS=1.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-1.151;SOR=0.939	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1915,0,1757	5	0	1	0
chr10	26217866	26217866	A	G	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon3:c.A161G:p.K54R,GAD2:NM_001134366:exon3:c.A161G:p.K54R	.	309	1211	1	1	0	3	0.00123711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0833496069102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	6.84e-07	0	1.382e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.349	0.17531	T	0.001	0.07471	B	0.003	0.08700	B	0.000012	0.62929	N	0.144057	0.998938	0.45716	D	0.345	0.11182	N	0.09	0.61443	T	-0.5	0.15782	N	0.311	0.35088	-0.9777	0.35526	T	0.136	0.45184	T	10	0.17952982	0.33091	T	0.08335	0.74097	D	0.077	0.22490	0.26	0.20315	0.630073153171	0.62705	0.2878341751520797	0.28696	0.317564244989	0.34000	0.519422769547	0.41545	T	0.310644	0.68259	T	-0.14055	0.29803	T	-0.439667	0.28847	T	0.473260849714279	0.31650	T	0.665033	0.27384	T	0.06101452	0.12586	0.11331086	0.27347	0.06101452	0.12585	0.11331086	0.27346	-3.376	0.14735	T	.	.	0.091	0.13221	B	.;.	.;.	2.440699	0.31414	18.73	0.98362736056791322	0.40658	0.80202	0.39903	D	AEFDBHCI	0.564695	0.57138	D	-0.446733682575966	0.23851	1.28375	-0.294928399133239	0.28266	1.574563	0.99951310946177	0.40117	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.94	4.81	0.61401	3.762000	0.54962	5.892000	0.50774	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.036000	0.13842	0.8572:0.0:0.1428:0.0	9.054	0.35554	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000522	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	485.83	35	chr10	26217866	.	A	G	485.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.738;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.64;SOR=0.684	GT:AD:DP:GQ:PL	0/1:21,18:39:99:496,0,575	5	0	1	0
chr10	29481636	29481636	G	A	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon26:c.C3770T:p.T1257M,SVIL:NM_001323600:exon27:c.C3866T:p.T1289M,SVIL:NM_021738:exon28:c.C5048T:p.T1683M,SVIL:NM_001323599:exon29:c.C4118T:p.T1373M	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0138074620654	0.0002	0.000798722	0.0004	0.0002	8.637e-05	0	0	8.99e-05	0.0011	0.0027	0.0003881	60	154602	rs376114325	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0001	0.0017	0.0016	0.0002	8.944e-05	0	2.519e-05	1.872e-05	0.0009	4.227e-05	0.0002	0.0019	0.0001	0.0001	9.001e-05	0.0001	0.0012	7.579e-05	6.284e-05	0.0005	0.0004	0.0002	0	0	0	0	0	0	4.412e-05	0	0.0012	0.043	0.43085	D	0.044	0.51112	D	0.599	0.43381	P	0.145	0.33871	B	0.000054	0.53742	D	0.192696	0.99983	0.49637	D	2.505	0.72935	M	2.35	0.16217	T	-3.16	0.64246	D	0.671	0.75009	-1.0546	0.13145	T	0.044	0.18906	T	10	0.027144462	0.00866	T	0.013807	0.33491	T	0.084	0.24469	.	.	0.143184338766	0.13958	0.49342463400652853	0.49263	0.794805195518	0.65999	0.616603016853	0.55248	T	0.260948	0.63238	T	-0.404899	0.02149	T	-0.359623	0.38096	T	0.109448015312001	0.13366	T	0.929907	0.74113	D	0.12452243	0.29214	0.16735107	0.38612	0.12452243	0.29213	0.16735107	0.38611	-11.88	0.85507	D	0.2572188792267808	0.34763	0.145	0.32079	B	.;.;.	.;.;.	4.114400	0.61453	24.3	0.99898217344371831	0.97048	0.97777	0.77057	D	AEFDGBI	0.479132	0.52141	N	0.204387172992479	0.51412	3.322598	0.259564860528895	0.53195	3.489701	0.999999908085391	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	7.096000	0.76614	8.722000	0.78164	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.482000	0.28611	0.0:0.0:1.0:0.0	16.866	0.85895	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1874.83	34	chr10	29481636	.	G	A	1874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.19;DP=340;ExcessHet=0;FS=3.623;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.089;SOR=0.993	GT:AD:DP:GQ:PL	0/1:95,72:167:99:1885,0,2208	5	0	1	0
chr10	34269787	34269787	C	T	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184791:exon18:c.G2962A:p.G988R,PARD3:NM_001184789:exon20:c.G3049A:p.G1017R,PARD3:NM_001184790:exon20:c.G3028A:p.G1010R,PARD3:NM_001184786:exon21:c.G3250A:p.G1084R,PARD3:NM_001184787:exon21:c.G3187A:p.G1063R,PARD3:NM_001184788:exon21:c.G3160A:p.G1054R,PARD3:NM_001184785:exon22:c.G3289A:p.G1097R,PARD3:NM_019619:exon22:c.G3298A:p.G1100R	.	433	1053	36	0	0	36	0.0168067	.	.	.	3220270	PARD3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0041	0.00499201	0.0048	0.0048	0.0013	0.0001	0.0006	0.0024	0.0099	0.0207	0.0045666	706	154602	rs149455520	0.0042	0.0042	0.0037	0.0048	0.0197	0.0041	0.0041	0.0189	0.0186	0.0039	0.0010	0.0001	5.041e-05	0.0004	0.0121	0.0035	0.0046	0.0197	0.0034	0.0034	0.0032	0.0036	0.0224	0.0032	0.0031	0.0190	0.0177	0.0039	0	0.0011	0	0.0002	0.0002	0.0102	0.0033	0.0014	0.0224	0.595	0.12265	T	0.542	0.12491	T	1.0	0.90584	D	0.999	0.97372	D	0.001142	0.40056	N	0.286347	1	0.81001	D	2.045	0.56016	M	1.67	0.27331	T	-3.11	0.64478	D	0.651	0.67650	-0.9960	0.31028	T	0.109	0.39344	T	10	0.005013466	0.00108	T	.	.	.	0.237	0.54074	0.592	0.72123	0.751443546901	0.74919	0.2717819963719934	0.27091	0.127543965056	0.14372	0.573260247707	0.49138	T	0.369987	0.73460	T	-0.142057	0.29563	T	0.0387634	0.72847	D	0.024801978591173	0.01247	T	0.956704	0.85550	D	0.12195915	0.28668	0.12468187	0.30049	0.10710007	0.25324	0.12620677	0.30398	-4.731	0.33813	T	.	.	0.269	0.52508	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.029532	0.59574	24.1	0.99898630316621184	0.97124	0.93339	0.57952	D	AEFDBI	0.731083	0.67827	D	0.443375977022611	0.63827	4.624275	0.435122669991485	0.63768	4.617202	0.994567814164703	0.33696	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.78	4.88	0.63131	4.534000	0.60334	3.302000	0.37391	0.549000	0.26987	1.000000	0.71638	0.985000	0.30750	0.978000	0.57271	0.0:0.9325:0.0:0.0675	15.267	0.73371	893	0.26510	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.008560	0.000000	0.009511	0.008772	0.000000	0.008621	0.003049	0.022727	0.08333	1450.83	34	chr10	34269787	.	C	T	1450.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.445;DP=313;ExcessHet=0;FS=1.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.918;SOR=0.853	GT:AD:DP:GQ:PL	0/1:79,61:140:99:1461,0,1968	5	0	1	0
chr10	46549598	46549598	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385276:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385282:exon3:c.G1139A:p.R380Q,GPRIN2:NM_014696:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385277:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385278:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385279:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385280:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385281:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385283:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385287:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385289:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385300:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385291:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385293:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385294:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385295:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385296:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385301:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385297:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385298:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385299:exon6:c.G1211A:p.R404Q	.	396	1102	23	1	0	25	0.0112158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0142984692189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150696937	0.0034	0.0068	0.0035	0.0034	0.0095	0.0033	0.0033	0.0075	0.0068	0.0008	0.0026	0.0079	0	0.0009	0.0095	0.0038	0.0038	0.0015	0.0026	0.0049	0.0029	0.0024	0.0038	0.0024	0.0023	0.0034	0.0032	0.0010	0	0.0030	0.0082	0.0004	0.0008	0.0105	0.0038	0.0029	0.0023	0.016	0.51853	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.9	0.72932	D	0.212	0.23632	.	.	.	.	.	.	.	0.03615442	0.01899	T	.	.	.	.	.	.	.	.	.	0.5480051513584038	0.54726	.	.	.	.	.	0.064308	0.32400	T	.	.	.	.	.	.	.	.	.	0.832417	0.50060	T	.	.	.	.	.	.	.	.	-5.983	0.46138	T	.	.	0.079	0.08609	B	.;.	.;.	3.526453	0.49461	22.8	.	.	.	.	.	.	0.226162	0.35015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414000	0.44281	0.153000	0.15315	0.549000	0.26987	0.991000	0.37257	0.006000	0.19429	0.975000	0.56047	.	.	.	970	0.06235	G protein-regulated inducer of neurite outgrowth, C-terminal;G protein-regulated inducer of neurite outgrowth, 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	.	.	.	.	.	.	.	.	0.1667	2180.06	176	chr10	46549598	.	C	T	2180.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.44;DP=1522;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.81;ReadPosRankSum=0.718;SOR=0.71	GT:AD:DP:GQ:PL	0/1:205,56:261:99:1085,0,5310	4	0	2	0
chr10	47474331	47474331	G	A	exonic	ANXA8	.	nonsynonymous SNV	ANXA8:NM_001271703:exon6:c.C434T:p.T145M,ANXA8:NM_001040084:exon8:c.C620T:p.T207M,ANXA8:NM_001271702:exon8:c.C734T:p.T245M	.	557	954	11	0	0	11	0.00573215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00947507258297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416919198	0.0015	0.0018	0.0014	0.0016	0.0181	0.0014	0.0014	0.0147	0.0135	0.0010	0.0018	0.0038	7.506e-05	0.0005	0.0181	0.0014	0.0027	0.0011	0.0020	0.0023	0.0021	0.0019	0.0062	0.0018	0.0017	0.0052	0.0048	0.0005	0.0012	0.0062	0.0053	0	0.0002	0.0250	0.0021	0.0015	0.0021	.	.	.	0.035	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5	0.05014	T	.	.	.	0.208	0.39052	.	.	.	.	.	.	.	0.03975299	0.02489	T	.	.	.	.	.	.	.	.	.	0.4310750636228678	0.43024	.	.	.	.	.	0.136864	0.50197	T	.	.	.	.	.	.	.	.	.	0.972453	0.90263	D	.	.	.	.	.	.	.	.	-7.895	0.62647	D	.	.	0.177	0.38676	B	.;.;.;.	.;.;.;.	3.787850	0.54506	23.5	.	.	.	.	.	.	0.077809	0.15685	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572000	0.23387	2.642000	0.33760	0.477000	0.22036	0.455000	0.26605	0.998000	0.33993	0.581000	0.30918	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1384.92	.	chr10	47474331	.	G	A	1384.92	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.094;DP=361;ExcessHet=1.7609;FS=2.314;MLEAC=3;MLEAF=0.3;MQ=48.98;MQRankSum=-0.459;QD=4.79;ReadPosRankSum=-0.096;SOR=0.533	GT:AD:DP:GQ:PL	0/1:64,25:89:99:510,0,1744	2	0	3	1
chr10	48180805	48180805	T	C	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon19:c.A2713G:p.K905E,FRMPD2:NM_001018071:exon21:c.A2788G:p.K930E	.	.	.	.	.	.	.	.	0.0012	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0161201384846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.08559	T	0.228	0.25286	T	0.002	0.12183	B	0.003	0.15521	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	0.01	0.63077	T	-1.14	0.29323	N	0.126	0.11912	-1.0300	0.20454	T	0.110	0.39556	T	9	0.07231936	0.10778	T	0.01612	0.37217	T	0.033	0.08068	0.365	0.37199	0.234412748748	0.23057	0.1022840279713947	0.10158	2.20439237927	0.95697	0.378929287195	0.22105	T	0.01535	0.12895	T	-0.188081	0.22540	T	-0.507942	0.21528	T	0.0393599602170296	0.03575	T	0.605339	0.22755	T	0.077968806	0.17729	0.05513423	0.09615	0.077968806	0.17729	0.05513423	0.09614	-2.182	0.03954	T	.	.	0.089	0.12371	B	.;.;.	.;.;.	1.006500	0.13851	10.41	0.75917948614446429	0.11262	0.09844	0.15507	N	AEFI	0.047265	0.07940	N	-1.08764691597466	0.06870	0.3174883	-1.06534538080336	0.08389	0.4123263	3.23551154094007E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.53	0.428	0.15714	0.525000	0.22664	0.255000	0.16475	-0.173000	0.11020	0.517000	0.27088	0.085000	0.22446	0.017000	0.10941	0.0:0.3219:0.2361:0.442	3.018	0.05700	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	.	.	.	.	.	.	.	.	0.1667	309.06	22	chr10	48180805	.	T	C	309.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.409;DP=101;ExcessHet=0.4139;FS=3.166;MLEAC=2;MLEAF=0.167;MQ=26.69;MQRankSum=0;QD=9.37;ReadPosRankSum=1.32;SOR=1.473	GT:AD:DP:GQ:PL	0/1:13,10:23:99:194,0,308	4	0	2	0
chr10	48222396	48222396	C	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon10:c.G1300A:p.E434K,FRMPD2:NM_001018071:exon12:c.G1372A:p.E458K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.118171961024	.	.	3.296e-05	0	0	0	0	5.997e-05	0	0	3.23e-05	5	154602	rs778076413	2.531e-05	2.531e-05	2.314e-05	2.75e-05	0.0002	1.868e-05	1.631e-05	2.116e-05	1.862e-05	0	2.236e-05	0	0	0	0.0002	2.968e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-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	0.004	0.65419	D	0.013	0.63109	D	0.998	0.90584	D	0.975	0.86255	D	.	.	.	.	0.999835	0.49637	D	2.9	0.83903	M	-1.45	0.80899	T	-3.48	0.67941	D	0.457	0.49420	0.432	0.89567	D	0.699	0.89638	D	9	0.78812003	0.78423	D	0.118172	0.79815	D	0.628	0.85666	0.667	0.80502	0.800665467327	0.79880	0.24014651499322753	0.23928	0.184650743145	0.20765	0.518602490425	0.41429	T	0.158519	0.76438	T	-0.036206	0.46511	T	-0.133418	0.60684	T	0.869253814220428	0.51919	D	0.916508	0.73422	D	0.68051803	0.76997	0.57251567	0.75241	0.68051803	0.76998	0.57251567	0.75242	-10.844	0.78795	D	.	.	0.220	0.45421	B	.;.;.	.;.;.	3.690753	0.52580	23.3	0.99929113575003592	0.99279	0.96035	0.67239	D	AEFBI	0.632121	0.61285	D	0.749275929121456	0.82858	7.86769	0.697935293545699	0.82223	7.713904	0.999999999857044	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	4.394000	0.59433	4.251000	0.42758	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	16.658	0.85091	976	0.04745	FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2224.06	36	chr10	48222396	.	C	T	2224.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.213;DP=366;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.575;SOR=0.711	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1341,0,1469	4	0	2	0
chr10	49107954	49107954	C	T	exonic	VSTM4	.	nonsynonymous SNV	VSTM4:NM_001031746:exon2:c.G97A:p.V33M,VSTM4:NM_144984:exon2:c.G97A:p.V33M	.	429	1080	13	0	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0131571431453	0.0011	0.000599042	0.0015	0.0003	0.0004	0	0	0.0019	0.0037	0.0020	0.0010026	155	154602	rs148517338	0.0012	0.0012	0.0012	0.0013	0.0059	0.0012	0.0012	0.0044	0.0038	9.037e-05	0.0006	3.866e-05	2.539e-05	3.79e-05	0.0059	0.0013	0.0016	0.0023	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0004	0.0006	0	0	0.0102	0.0015	0.0014	0.0008	0.019	0.53900	D	0.235	0.50226	T	0.999	0.77913	D	0.921	0.66815	D	0.076635	0.21151	N	0.530532	0.996761	0.22909	N	2.175	0.60977	M	-0.22	0.66474	T	-0.61	0.20791	N	0.165	0.23253	-0.7047	0.60212	T	0.319	0.68813	T	10	0.02429533	0.00663	T	0.013157	0.32344	T	0.143	0.38195	.	.	0.677134000145	0.67439	0.5292290068773372	0.52846	0.355680316561	0.37321	0.651309609413	0.60171	T	0.074755	0.35016	T	-0.363331	0.03946	T	-0.307906	0.43882	T	0.0307017693348963	0.02099	T	0.865313	0.57103	D	0.063840926	0.13485	0.07126395	0.15241	0.063840926	0.13484	0.07126395	0.15241	-6.062	0.49899	T	.	.	0.145	0.42706	B	.;.	.;.	4.443698	0.69020	25.3	0.99865748413306032	0.94366	0.26880	0.23119	N	AEFDBI	0.144660	0.26768	N	0.476844006853985	0.65742	4.860716	0.449637236952505	0.64694	4.730462	0.999994314011266	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	5.83	3.96	0.45097	1.237000	0.32298	2.637000	0.33729	0.599000	0.40250	0.643000	0.28111	0.993000	0.31925	0.980000	0.58198	0.21:0.6138:0.0:0.1762	4.244	0.10117	.	.	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.008621	0.000000	0.003788	0.08333	1173.83	40	chr10	49107954	.	C	T	1173.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.39;DP=261;ExcessHet=0;FS=0.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.128;SOR=0.519	GT:AD:DP:GQ:PL	0/1:33,40:73:99:1184,0,756	5	0	1	0
chr10	49736463	49736463	T	C	exonic	OGDHL	.	nonsynonymous SNV	OGDHL:NM_001143997:exon19:c.A2021G:p.Q674R,OGDHL:NM_001347822:exon19:c.A2021G:p.Q674R,OGDHL:NM_001347826:exon19:c.A1451G:p.Q484R,OGDHL:NM_001143996:exon20:c.A2477G:p.Q826R,OGDHL:NM_001347820:exon20:c.A2477G:p.Q826R,OGDHL:NM_001347823:exon20:c.A2468G:p.Q823R,OGDHL:NM_001347824:exon20:c.A2468G:p.Q823R,OGDHL:NM_001347825:exon20:c.A1841G:p.Q614R,OGDHL:NM_001347819:exon21:c.A2648G:p.Q883R,OGDHL:NM_001347821:exon21:c.A2021G:p.Q674R,OGDHL:NM_018245:exon21:c.A2648G:p.Q883R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00373269116483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.16358	T	0.33	0.40267	T	0.0	0.02946	B	0.001	0.04355	B	0.326887	0.14179	N	0.698644	0.998995	0.21728	N	0.685	0.16464	N	2.78	0.11298	T	-0.5	0.18459	N	0.106	0.15046	-1.0045	0.28607	T	0.019	0.07939	T	10	0.11417061	0.21471	T	0.003733	0.08651	T	0.026	0.05648	0.281	0.23642	0.208000267992	0.20380	0.2770201536059743	0.27615	0.185854131292	0.20895	0.290280103683	0.08963	T	0.053186	0.29372	T	-0.358848	0.04196	T	-0.753237	0.03361	T	0.0342284627258778	0.02677	T	0.610139	0.23115	T	0.031741295	0.03068	0.052892625	0.08804	0.031741295	0.03068	0.052892625	0.08803	-4.973	0.36546	T	0.13837735020709144	0.15304	0.067	0.05447	B	.;.;.	.;.;.	1.032334	0.14123	10.70	0.9697200034651513	0.31823	0.26528	0.23019	N	AEFBI	0.434378	0.49545	N	-0.689422521119008	0.16322	0.8305401	-0.631270712745617	0.18691	0.9996402	0.0128875739528943	0.12388	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.4	2.96	0.33383	1.057000	0.30102	-0.034000	0.12756	-0.162000	0.11565	0.017000	0.19353	0.000000	0.08366	0.142000	0.20019	0.0:0.1429:0.1321:0.7251	6.281	0.20215	900	0.24599	Multifunctional 2-oxoglutarate metabolism enzyme, 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	.	.	.	.	.	.	.	.	0.1667	1786.06	34	chr10	49736463	.	T	C	1786.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.46;DP=293;ExcessHet=0.4139;FS=2.064;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.099;SOR=0.925	GT:AD:DP:GQ:PL	0/1:41,35:76:99:880,0,1075	4	0	2	0
chr10	50008871	50008871	G	A	exonic	AGAP6	.	nonsynonymous SNV	AGAP6:NM_001077665:exon8:c.G746A:p.R249H,AGAP6:NM_001365867:exon9:c.G143A:p.R48H	.	435	1075	12	0	0	12	0.00555042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00222634385047	.	0.00339457	0.0044	0.0024	0.0023	0	0	0.0056	0.0125	0.0016	0.0023821	62	26028	rs199714140	0.0098	0.0098	0.0100	0.0096	0.0114	0.0096	0.0096	0.0112	0.0111	0.0025	0.0053	0.0082	5.038e-05	0.0034	0.0104	0.0114	0.0111	0.0022	0.0068	0.0068	0.0076	0.0061	0.0113	0.0065	0.0063	0.0106	0.0104	0.0018	0.0022	0.0069	0.0095	0	0.0023	0.0204	0.0113	0.0076	0.0019	.	.	.	0.012	0.64786	D	.	.	.	.	.	.	0.000008	0.62929	D	0.065932	0.998981	0.45816	D	2.35	0.67516	M	0.82	0.48142	T	.	.	.	0.312	0.39052	-0.9181	0.45811	T	0.150	0.47717	T	9	0.007137418	0.00162	T	.	.	.	0.213	0.50496	.	.	0.0920862733494	0.08535	.	.	.	.	0.594592154026	0.52142	T	0.077196	0.35598	T	-0.457951	0.01012	T	-0.422629	0.30773	T	0.0407494602318906	0.03827	T	0.822518	0.48242	T	0.18602437	0.39993	0.14255284	0.33908	0.18602437	0.39992	0.14255284	0.33907	-7.195	0.55445	T	.	.	0.076	0.11269	B	.;.;.	.;.;.	2.658884	0.34638	19.68	0.976261156641404	0.34995	0.74637	0.36517	D	AEFI	0.269645	0.38588	N	-0.237278780984904	0.31613	1.774474	-0.462322529874321	0.23200	1.263978	4.72246728139069E-4	0.07095	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	0.046	0.046	0.13572	4.920000	0.63089	-0.392000	0.09469	0.135000	0.17665	1.000000	0.71638	0.000000	0.08366	0.173000	0.21076	7.0E-4:0.0:0.9993:0.0	5.925	0.18342	715	0.56137	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005095	0.024390	0.006122	0.005155	0.000000	0.000000	0.008264	0.000000	0.08333	3910.83	33	chr10	50008871	.	G	A	3910.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.844;DP=475;ExcessHet=0;FS=10.409;MLEAC=1;MLEAF=0.083;MQ=40.24;MQRankSum=-1.775;QD=14.17;ReadPosRankSum=1.2;SOR=0.468	GT:AD:DP:GQ:PL	0/1:122,154:276:99:3921,0,2787	5	0	1	0
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	135.59	66	chr10	50104144	.	G	A	135.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.822;DP=299;ExcessHet=1.383;FS=148.216;MLEAC=3;MLEAF=0.5;MQ=56.55;MQRankSum=-0.632;QD=0.85;ReadPosRankSum=0.155;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,10:45:55:0|1:50104141_G_C:55,0,1267:50104141	1	0	2	3
chr10	73498685	73498685	C	T	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon22:c.G4813A:p.D1605N,USP54:NM_001350995:exon22:c.G4708A:p.D1570N,USP54:NM_001378208:exon22:c.G4828A:p.D1610N,USP54:NM_001378209:exon22:c.G4828A:p.D1610N,USP54:NM_001378210:exon22:c.G4828A:p.D1610N,USP54:NM_152586:exon23:c.G4999A:p.D1667N	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0019	0.00758786	0.0063	0.0008	0.0020	0.0001	0.0003	0.0034	0.0036	0.0406	0.0057373	887	154602	rs117429793	0.0048	0.0048	0.0039	0.0056	0.0300	0.0047	0.0047	0.0290	0.0286	0.0004	0.0015	0.0091	5.054e-05	0.0002	0.0158	0.0034	0.0047	0.0300	0.0030	0.0030	0.0028	0.0033	0.0276	0.0028	0.0027	0.0238	0.0223	0.0007	0	0.0009	0.0075	0.0002	0.0003	0.0136	0.0036	0.0033	0.0276	0.217	0.19157	T	0.255	0.23365	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.997265	0.22728	N	1.59	0.40313	L	1.84	0.24656	T	-0.75	0.21003	N	0.081	0.15187	-1.0720	0.08979	T	0.032	0.13942	T	9	0.0031874776	0.00054	T	.	.	.	0.027	0.05988	.	.	0.244539031024	0.24083	0.12739062059800277	0.12665	0.161090804594	0.18180	0.343045890331	0.16894	T	0.001299	0.00775	T	-0.670526	0.00055	T	-0.712943	0.05145	T	0.00310305658237884	0.00033	T	0.735226	0.35154	T	0.02198605	0.00832	0.03208178	0.01889	0.02198605	0.00832	0.03208178	0.01888	-4.636	0.32621	T	.	.	0.092	0.21239	B	.;.	.;.	1.589521	0.20330	14.70	0.97309251252999618	0.33318	0.81022	0.40516	D	AEFDBI	0.156473	0.28183	N	-0.674840038345254	0.16740	0.8555635	-0.57157403984812	0.20236	1.089	0.992873459407796	0.33000	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.09	3.16	0.35406	1.751000	0.37967	4.075000	0.41695	0.577000	0.29297	0.878000	0.30948	1.000000	0.68203	0.007000	0.07825	0.0:0.7532:0.1602:0.0866	8.064	0.29812	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.026515	0.1667	2154.06	36	chr10	73498685	.	C	T	2154.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.024;DP=331;ExcessHet=0.4139;FS=2.588;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.546;SOR=0.509	GT:AD:DP:GQ:PL	0/1:51,37:88:99:869,0,1386	4	0	2	0
chr10	84144915	84144915	T	-	exonic	GHITM	.	frameshift deletion	GHITM:NM_014394:exon5:c.382delT:p.Y128Ifs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5481.03	33	chr10	84144914	.	CT	C	5481.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.45;DP=438;ExcessHet=0.4139;FS=3.133;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=1.71;SOR=0.684	GT:AD:DP:GQ:PL	0/1:63,64:127:99:2206,0,2145	4	0	2	0
chr10	87862043	87862043	A	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.T445A:p.W149R	Cowden syndrome 4	404	1089	27	2	0	31	0.0140335	.	.	.	1328827	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0033	0.00778754	0.0100	0.0057	0.0094	0.0218	0.0294	0.0058	0	0.0485	0.0019081	295	154602	rs144811392	0.0044	0.0043	0.0040	0.0048	0.0220	0.0043	0.0043	0.0200	0.0196	0.0059	0.0042	0.0224	0.0013	0.0015	0.0220	0.0029	0.0069	0.0209	0.0050	0.0050	0.0051	0.0050	0.0197	0.0047	0.0046	0.0165	0.0153	0.0055	0	0.0060	0.0236	0.0048	0.0013	0.0068	0.0032	0.0043	0.0197	0.0	0.91255	D	0.0	0.92824	D	0.053	0.22573	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-13.33	0.99923	D	0.518	0.54845	-1.0009	0.29660	T	0.028	0.12058	T	7	0.004883915	0.00104	T	.	.	.	0.081	0.23632	0.273	0.22369	0.187945064343	0.18414	0.01955883499582311	0.01909	.	.	0.516497671604	0.41134	T	0.073376	0.34684	T	-0.320565	0.06851	T	-0.21699	0.53027	T	0.0646169826733294	0.07873	T	.	.	.	0.4524634	0.64197	0.48240533	0.70030	0.4524634	0.64198	0.48240533	0.70030	-1.846	0.02650	T	.	.	0.624	0.69881	P	.	.	2.927599	0.38882	20.8	0.65714381610574835	0.07851	0.07896	0.13885	N	ALL	0.082170	0.16635	N	-1.24715766884081	0.04337	0.1955592	-1.21298957757575	0.05701	0.2723601	0.99999999999944	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.02	0.222	0.14563	0.290000	0.18731	0.087000	0.14465	-0.562000	0.04833	0.371000	0.25932	0.000000	0.08366	0.079000	0.17189	0.6162:0.0:0.3838:0.0	7.162	0.24847	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027655	0.025641	0.036036	0.035398	0.000000	0.000000	0.024691	0.026786	0.1667	2403.06	34	chr10	87862043	.	A	T	2403.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.324;DP=334;ExcessHet=0.4139;FS=3.206;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.282;SOR=0.508	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1281,0,1534	4	0	2	0
chr10	87862096	87862096	T	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.A392G:p.N131S	Cowden syndrome 4	401	1092	27	2	0	31	0.0139955	.	.	.	1328865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0031	0.00778754	0.0176	0.0072	0.0089	0.0213	0.0312	0.0090	0.0192	0.0490	0.0022121	342	154602	rs147932146	0.0045	0.0044	0.0041	0.0049	0.0211	0.0044	0.0044	0.0198	0.0195	0.0060	0.0038	0.0221	0.0013	0.0015	0.0211	0.0030	0.0070	0.0207	0.0050	0.0050	0.0051	0.0050	0.0195	0.0047	0.0046	0.0163	0.0151	0.0055	0	0.0060	0.0237	0.0048	0.0013	0.0068	0.0032	0.0043	0.0195	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	2.7	0.00190	N	0.052	0.02366	-1.0067	0.27943	T	0.026	0.11309	T	7	0.0028946996	0.00046	T	.	.	.	0.028	0.06331	.	.	.	.	0.0017261303148033691	0.00159	.	.	0.443860292435	0.31104	T	9.34E-4	0.00486	T	-0.55553	0.00270	T	-0.555162	0.16834	T	0.0160280219121759	0.00383	T	.	.	.	0.038653046	0.05189	0.057588708	0.10494	0.038653046	0.05188	0.057588708	0.10493	-1.817	0.02560	T	.	.	0.030	0.00001	B	.	.	1.212471	0.16058	12.29	0.77735424106533868	0.12000	0.00230	0.01288	N	ALL	0.021629	0.00984	N	-0.803821028253282	0.13212	0.6493035	-0.677257652528533	0.17530	0.9325337	0.999999999999535	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.2	1.31	0.20837	0.171000	0.16497	-0.080000	0.12189	-0.171000	0.11205	0.988000	0.36536	0.544000	0.25431	0.986000	0.61781	0.0:0.5313:0.1739:0.2948	4.061	0.09315	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019656	0.013514	0.012658	0.036036	0.000000	0.000000	0.025000	0.010000	0.1667	3029.06	34	chr10	87862096	.	T	C	3029.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.87;DP=318;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.089;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,42:91:99:0|1:87862096_T_C:1577,0,1876:87862096	4	0	2	0
chr10	87862106	87862106	G	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.C382G:p.R128G	Cowden syndrome 4	407	1086	27	2	0	31	0.0140717	.	.	.	1164372	KLLN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00539137	0.0159	0.0005	0.0029	0.0205	0.0312	0.0085	0.0167	0.0396	0.001934	299	154602	rs201652303	0.0042	0.0040	0.0037	0.0047	0.0206	0.0041	0.0041	0.0198	0.0195	0.0007	0.0025	0.0194	0.0013	0.0015	0.0194	0.0028	0.0059	0.0206	0.0032	0.0032	0.0032	0.0032	0.0191	0.0029	0.0029	0.0159	0.0147	0.0007	0	0.0020	0.0225	0.0048	0.0013	0.0068	0.0030	0.0043	0.0191	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-7.0	0.93697	D	0.288	0.32591	-1.0597	0.11830	T	0.080	0.31675	T	7	0.006397873	0.00145	T	.	.	.	0.151	0.39764	.	.	0.364926071151	0.36103	0.0191589379260431	0.01869	.	.	0.452904105186	0.32341	T	0.056345	0.30261	T	-0.234763	0.16023	T	-0.0944025	0.63828	T	0.0864372817327152	0.10789	T	.	.	.	0.55346066	0.70148	0.6603481	0.80101	0.55346066	0.70149	0.6603481	0.80101	-3.337	0.14219	T	.	.	0.233	0.46596	B	.	.	2.612882	0.33937	19.49	0.98646421445873789	0.44123	0.23292	0.22029	N	ALL	0.076716	0.15439	N	-0.13223173202535	0.35992	2.074642	-0.204622698071941	0.31370	1.774679	0.999999999999794	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.31	2.44	0.28875	0.563000	0.23250	1.516000	0.27058	0.676000	0.76740	0.702000	0.28645	0.181000	0.23421	0.934000	0.47231	0.2089:0.0:0.7911:0.0	6.920	0.23565	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016010	0.006579	0.000000	0.027273	0.000000	0.000000	0.032051	0.010638	0.1667	3069.06	34	chr10	87862106	.	G	C	3069.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.17;DP=316;ExcessHet=0.4139;FS=0.549;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.254;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,44:94:99:0|1:87862096_T_C:1652,0,1884:87862096	4	0	2	0
chr10	89214971	89214971	C	T	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon8:c.G709A:p.V237I,LIPA:NM_000235:exon10:c.G1057A:p.V353I,LIPA:NM_001127605:exon10:c.G1057A:p.V353I	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3382555	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.144	0.0134274391072	.	.	3.297e-05	0	0	0.0001	0	2.999e-05	0	6.058e-05	2.59e-05	4	154602	rs751167376	1.437e-05	1.437e-05	1.361e-05	1.513e-05	1.799e-05	9.23e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.27310	T	0.147	0.32783	T	0.069	0.23796	B	0.139	0.33484	B	0.269427	0.15157	N	0.660669	0.999997	0.22212	N	1.125	0.28843	L	-0.59	0.71543	T	-0.56	0.17003	N	0.059	0.07262	-0.8065	0.54760	T	0.243	0.61177	T	10	0.18677318	0.34158	T	0.013427	0.32827	T	0.144	0.38394	0.684	0.82175	0.517983797298	0.51440	0.5983936005672345	0.59770	0.123377502336	0.13895	0.248874813318	0.03650	T	0.10631	0.41753	T	-0.311131	0.07649	T	-0.58784	0.13854	T	0.0521272252982222	0.05868	T	0.70163	0.32527	T	0.06116711	0.12637	0.05671423	0.10183	0.06116711	0.12636	0.05671423	0.10182	-5.948	0.46355	T	0.15554561943095946	0.18651	0.092	0.20934	B	.;.;.	.;.;.	-1.614721	0.00233	0.004	0.89021913874375191	0.18446	0.02799	0.07519	N	AEFDBIJ	0.120287	0.23439	N	-1.27559160230459	0.03971	0.1783993	-1.3968522778851	0.03285	0.152947	0.999998182669692	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.08	-5.46	0.02404	-2.386000	0.01139	-13.298000	0.00467	-1.643000	0.00837	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.4841:0.0:0.5159	13.504	0.60927	867	0.32089	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	3991.06	33	chr10	89214971	.	C	T	3991.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=482;ExcessHet=0.4139;FS=0.821;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.75;SOR=0.743	GT:AD:DP:GQ:PL	0/1:92,77:169:99:2026,0,2246	4	0	2	0
chr10	90857666	90857666	C	T	exonic	HTR7	.	nonsynonymous SNV	HTR7:NM_000872:exon1:c.G6A:p.M2I,HTR7:NM_019859:exon1:c.G6A:p.M2I,HTR7:NM_019860:exon1:c.G6A:p.M2I	.	420	1099	3	0	0	3	0.00136302	.	.	.	3270708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.882569842982	.	.	0.0002	0	0	0	0	0.0004	0	0.0001	9.7e-05	15	154602	rs201619956	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0003	0	0	0.0012	0.0002	0.0002	8.624e-05	8.541e-05	8.531e-05	7.712e-05	9.407e-05	0.0003	4.956e-05	3.962e-05	0.0001	8.276e-05	0	0	0.0003	0.0003	0	0	0	0.0001	0	0	0.0	0.91255	D	0.054	0.47097	T	0.261	0.31520	B	0.069	0.27757	B	0.108961	0.19505	N	0.517876	0.995225	0.23342	N	0.695	0.17993	N	-0.12	0.64630	T	-0.08	0.08340	N	0.407	0.48504	-0.9641	0.38389	T	0.161	0.49631	T	10	0.41333482	0.56374	T	0.88257	0.99106	D	0.288	0.60691	0.233	0.16155	0.837500281751	0.83595	0.5110983383236349	0.51031	0.463146450932	0.45825	0.864582419395	0.91785	D	0.116989	0.43674	T	-0.123824	0.32499	T	-0.136206	0.60447	T	0.123456317039614	0.14764	T	0.721828	0.33531	T	0.82483536	0.85547	0.69912505	0.82276	0.82483536	0.85549	0.69912505	0.82277	-4.244	0.27398	T	.	.	0.512	0.65127	A	.;.;.	.;.;.	3.069701	0.41256	21.3	0.98859657376146359	0.47442	0.64111	0.32302	D	AEFDGBHCI	0.228910	0.35251	N	-0.255761903557223	0.30874	1.725686	-0.190680589889357	0.31878	1.808239	0.999999994809864	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.82	2.91	0.32903	0.752000	0.26027	5.698000	0.49367	0.495000	0.22486	0.002000	0.15269	1.000000	0.68203	0.892000	0.42986	0.0:0.6724:0.2259:0.1018	7.418	0.26229	915	0.20917	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002976	0.000000	0.009091	0.006329	0.000000	0.1667	539.07	24	chr10	90857666	.	C	T	539.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=117;ExcessHet=0.4139;FS=1.177;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.582;SOR=0.932	GT:AD:DP:GQ:PL	0/1:15,15:30:99:425,0,369	4	0	2	0
chr10	91982215	91982215	A	G	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon17:c.A2038G:p.M680V	.	427	1088	7	0	0	7	0.0032066	.	.	.	2359577	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.483	0.0369596916006	0.0004	.	0.0004	0	0.0008	0	0	0.0005	0.0011	0.0004	0.0003363	52	154602	rs149461421	0.0003	0.0003	0.0003	0.0003	0.0154	0.0003	0.0003	0.0128	0.0119	2.988e-05	0.0007	3.827e-05	0	0	0.0154	0.0002	0.0005	0.0002	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	2.406e-05	0	0.0008	0	0	0	0.0340	0.0005	0.0024	0	0.46	0.08736	T	0.483	0.11795	T	0.027	0.19556	B	0.042	0.24114	B	0.000000	0.84330	D	0.000000	0.999668	0.48141	D	1.4	0.35362	L	-2.5	0.89219	D	-1.03	0.27052	N	0.518	0.54845	-0.2359	0.76733	T	0.549	0.83484	D	10	0.11179483	0.20947	T	0.03696	0.57318	D	0.483	0.77271	.	.	0.901563006291	0.90058	0.5201709987908205	0.51940	0.494330584606	0.47994	0.633355021477	0.57621	T	0.158061	0.50092	T	-0.0361314	0.46522	T	0.0790731	0.75516	D	0.0315290495366347	0.02231	T	0.879712	0.59601	D	0.12123095	0.28512	0.12723781	0.30631	0.12123095	0.28512	0.12723781	0.30631	-7.335	0.56444	T	.	.	0.110	0.21011	B	.;.	.;.	2.979749	0.39743	21.0	0.90498326808902518	0.19755	0.97730	0.76719	D	AEFGBI	0.599623	0.59257	D	-0.0253998463583208	0.40707	2.422147	0.152615693568399	0.47280	2.960665	0.989998491727388	0.32002	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	5.727000	0.68171	9.412000	0.80708	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9247:0.0:0.0753:0.0	10.113	0.41747	922	0.19044	Domain of unknown function DUF3535;Domain of unknown function DUF3535	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.013587	0.026316	0.000000	0.025862	0.006098	0.000000	0.1667	1671.06	33	chr10	91982215	.	A	G	1671.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.612;DP=265;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.8;SOR=0.702	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1039,0,1052	4	0	2	0
chr10	93333796	93333796	G	A	exonic	MYOF	.	stopgain	MYOF:NM_133337:exon41:c.C4642T:p.R1548X,MYOF:NM_013451:exon42:c.C4681T:p.R1561X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.141e-05	0.0001	8.642e-05	0	0	2.998e-05	0	6.058e-05	3.88e-05	6	154602	rs554218131	2.257e-05	2.257e-05	2.586e-05	1.925e-05	8.961e-05	1.61e-05	1.416e-05	2.375e-05	1.258e-05	8.961e-05	2.236e-05	0	2.519e-05	0	0	2.158e-05	1.656e-05	3.478e-05	2.627e-05	2.625e-05	3.855e-05	1.343e-05	7.219e-05	8.14e-06	5.14e-06	1.914e-05	1.03e-05	7.219e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000209	0.47681	D	0.180616	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.943	0.95256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.86784	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.710050	0.99238	42	0.9981203783895688	0.89620	0.47878	0.28081	N	ALL	0.344259	0.43981	N	0.37209227916306	0.59915	4.175076	0.154215600336982	0.47365	2.967899	0.99999999305607	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.651303	0.49530	0	0.711	0.71501	0	.	.	5.23	2.16	0.26663	0.867000	0.27621	4.998000	0.46575	-0.111000	0.15049	0.024000	0.20007	1.000000	0.68203	0.993000	0.69303	0.0683:0.0:0.4691:0.4626	9.029	0.35409	769	0.49307	.;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 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	.	.	.	.	.	.	.	.	0.08333	1263.83	33	chr10	93333796	.	G	A	1263.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.152;DP=305;ExcessHet=0;FS=1.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.26;SOR=0.899	GT:AD:DP:GQ:PL	0/1:66,55:121:99:1274,0,1566	5	0	1	0
chr10	96397278	96397278	G	A	exonic	TLL2	.	nonsynonymous SNV	TLL2:NM_012465:exon11:c.C1292T:p.P431L	.	.	.	.	.	.	.	.	.	.	.	2354812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.558	0.0457160593892	0.0007	.	0.0006	0	0	0	0.0005	0.0011	0	6.314e-05	0.0005498	85	154602	rs142713663	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	2.991e-05	2.239e-05	0.0001	0	0.0008	0	0.0004	0.0002	2.321e-05	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0006	0.0006	0	0	6.541e-05	0	0	0.0008	0	0.0008	0	0	0.042	0.41637	D	0.057	0.46406	T	1.0	0.90584	D	1.0	0.97372	D	0.000368	0.45194	D	0.000000	1	0.81001	D	2.62	0.76659	M	1.08	0.39401	T	-6.83	0.93020	D	0.951	0.95956	-0.2857	0.75385	T	0.348	0.71241	T	10	0.8410119	0.83257	D	0.045716	0.62114	D	0.558	0.81831	.	.	0.558227216974	0.55483	0.6927088266519533	0.69210	0.667790068816	0.59266	0.490808844566	0.37550	T	0.199845	0.55724	T	-0.0144211	0.49645	T	0.133704	0.79133	D	0.289600729942322	0.24573	T	0.989201	0.96434	D	0.30330613	0.53200	0.23045224	0.48148	0.30330613	0.53200	0.23045224	0.48147	-13.404	0.90959	D	.	.	0.295	0.52606	B	.	.	4.928050	0.81218	27.5	0.99861965297609512	0.94002	0.99073	0.90830	D	AEFDBI	0.929869	0.91629	D	0.766069982098168	0.83945	8.15279	0.628315493904429	0.77004	6.596748	0.999999999999974	0.74766	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.11	5.11	0.69188	9.860000	0.98420	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	17.708	0.88220	534	0.73357	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	.	.	.	.	.	.	.	.	0.1667	2802.06	33	chr10	96397278	.	G	A	2802.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.96;DP=378;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.58;SOR=0.725	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1314,0,1634	4	0	2	0
chr10	97572532	97572532	C	T	exonic	ANKRD2	.	nonsynonymous SNV	ANKRD2:NM_001291218:exon1:c.C83T:p.T28M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs568513038	7.799e-05	6.554e-05	9.161e-05	6.495e-05	0.0016	6.007e-05	5.382e-05	0.0011	0.0009	0.0016	5.348e-05	0	0	0	0	4.891e-05	3.252e-05	2.136e-05	0.0003	0.0003	0.0004	0.0002	0.0012	0.0003	0.0002	0.0010	0.0009	0.0012	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	844.83	53	chr10	97572532	.	C	T	844.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=259;ExcessHet=0;FS=1.029;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.666;SOR=0.711	GT:AD:DP:GQ:PL	0/1:26,30:56:99:855,0,624	5	0	1	0
chr10	100980601	100980601	G	A	exonic	SEMA4G	.	nonsynonymous SNV	SEMA4G:NM_001203244:exon11:c.G1375A:p.V459I,SEMA4G:NM_017893:exon11:c.G1375A:p.V459I	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0226823195711	7.7e-05	0.000399361	0.0004	0.0002	8.637e-05	0	0	4.497e-05	0	0.0027	0.0003687	57	154602	rs144844358	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0032	0.0030	5.974e-05	0.0002	0	0	0	0.0012	6.835e-05	0.0002	0.0035	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	9.694e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0	8.82e-05	0	0.0023	0.194	0.31532	T	0.129	0.51112	T	1.0	0.90584	D	0.999	0.92359	D	0.368275	0.13567	N	0.674095	1	0.81001	D	1.455	0.36767	L	2.78	0.11298	T	-0.69	0.19720	N	0.24	0.27077	-1.1602	0.00752	T	0.062	0.25708	T	10	0.017738879	0.00381	T	0.022682	0.45590	T	0.189	0.46613	.	.	0.44143026662	0.43763	0.26811607814268845	0.26724	0.20304463845	0.22720	0.563488304615	0.47760	T	0.096573	0.39852	T	-0.505822	0.00530	T	-0.503346	0.22000	T	0.0812110991605574	0.10142	T	0.728627	0.34357	T	0.07324945	0.16354	0.1059631	0.25483	0.07324945	0.16353	0.1059631	0.25483	-3.386	0.14869	T	.	.	0.117	0.24733	B	.;.;.;.	.;.;.;.	4.137402	0.61958	24.4	0.99786307526168994	0.87219	0.96878	0.71431	D	AEFBCI	0.843133	0.76019	D	0.401680620184757	0.61515	4.353656	0.382180820641627	0.60467	4.234537	0.999531558638399	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.02	4.11	0.47350	7.730000	0.83827	5.668000	0.49244	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0854:0.0:0.9146:0.0	12.010	0.52573	554	0.71839	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1633.83	41	chr10	100980601	.	G	A	1633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=289;ExcessHet=0;FS=2.674;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=-0.235;SOR=0.998	GT:AD:DP:GQ:PL	0/1:40,59:99:99:1644,0,934	5	0	1	0
chr10	101006993	101006993	G	A	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G1175A:p.R392H,LZTS2:NM_001318099:exon5:c.G1835A:p.R612H,LZTS2:NM_001318100:exon5:c.G1835A:p.R612H,LZTS2:NM_032429:exon5:c.G1835A:p.R612H	.	408	1110	4	0	0	4	0.00179856	.	.	.	2754738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0144789807169	0.0004	.	0.0011	0.0004	0	0	0	0.0019	0	0.0008	0.0002846	44	154602	rs145889711	0.0003	0.0003	0.0003	0.0003	0.0082	0.0003	0.0003	0.0063	0.0056	0.0002	0.0003	0.0002	0	0.0001	0.0082	0.0003	0.0007	0.0006	0.0003	0.0003	0.0002	0.0005	0.0009	0.0003	0.0002	0.0006	0.0004	7.217e-05	0	0.0009	0	0	0.0003	0.0068	0.0004	0.0005	0.0004	0.004	0.65419	D	0.259	0.23097	T	0.432	0.35621	B	0.106	0.31143	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.725	0.44537	L	0.66	0.52416	T	-2.19	0.49352	N	0.168	0.17828	-0.9505	0.40885	T	0.119	0.41799	T	10	0.07008067	0.10146	T	0.014479	0.34624	T	0.135	0.36572	.	.	0.484162603407	0.48046	0.4210526837639201	0.42021	0.33147152316	0.35224	0.503728508949	0.39347	T	0.104061	0.41328	T	-0.262547	0.12604	T	-0.252996	0.49522	T	0.0521029643714428	0.05865	T	0.854215	0.54045	D	0.42630795	0.62509	0.22805165	0.47835	0.42630795	0.62510	0.22805165	0.47834	-7.648	0.58645	D	.	.	0.097	0.17785	B	.;.	.;.	4.143125	0.62090	24.4	0.99924255422758768	0.98980	0.91315	0.53286	D	AEFDBCI	0.499663	0.53325	N	0.109992316499031	0.46927	2.925797	0.236487234498482	0.51885	3.367239	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	2.508000	0.45111	7.307000	0.58111	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.667	0.88111	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006633	0.000000	0.006849	0.011696	0.000000	0.008772	0.006369	0.003788	0.1667	2077.06	34	chr10	101006993	.	G	A	2077.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.89;DP=280;ExcessHet=0.4139;FS=4.289;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.078;SOR=0.418	GT:AD:DP:GQ:PL	0/1:28,36:64:99:855,0,659	4	0	2	0
chr10	103570968	103570968	C	T	exonic	NEURL1	.	nonsynonymous SNV	NEURL1:NM_004210:exon2:c.C182T:p.T61M	.	381	1126	15	0	0	15	0.00661667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00720906252433	.	0.000199681	0.0004	0	0.0002	0	0	0.0002	0	0.0022	0.0003816	59	154602	rs200414040	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0020	0.0019	2.987e-05	0.0001	3.826e-05	0	0.0002	0.0026	9.622e-05	0.0004	0.0023	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	9.695e-05	0.0014	0.0011	0	0	6.533e-05	0	0	0	0	0.0002	0	0.0025	0.037	0.43085	D	0.065	0.52060	T	0.971	0.57185	D	0.302	0.41118	B	0.000064	0.52346	D	0.165528	0.999986	0.18198	N	1.445	0.36358	L	.	.	.	-1.28	0.34596	N	0.348	0.38950	-1.0457	0.15621	T	0.065	0.26983	T	9	0.019372523	0.00432	T	0.007209	0.19116	T	0.083	0.24192	.	.	0.262679179196	0.25893	0.18010148591389805	0.17929	1.04843531002	0.76047	0.504908204079	0.39512	T	0.052901	0.29294	T	-0.431787	0.01446	T	-0.398867	0.33515	T	0.0314689681577452	0.02221	T	0.951205	0.81406	D	0.07228108	0.16068	0.1244334	0.29992	0.07228108	0.16067	0.1244334	0.29992	-5.103	0.37939	T	.	.	0.076	0.08417	B	.;.	.;.	2.721290	0.35591	19.94	0.99664954574020737	0.78202	0.29606	0.23866	N	AEFDBI	0.355816	0.44741	N	-0.252262292040224	0.31014	1.73485	-0.339918181000423	0.26823	1.484103	0.950456832868798	0.27896	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.7	3.79	0.42757	0.963000	0.28890	1.688000	0.28053	0.524000	0.24156	0.675000	0.28393	0.953000	0.29079	0.058000	0.15825	0.1274:0.6607:0.2119:0.0	11.118	0.47495	83	0.96533	Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1591.83	33	chr10	103570968	.	C	T	1591.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.429;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.39;SOR=0.681	GT:AD:DP:GQ:PL	0/1:57,65:122:99:1602,0,1322	5	0	1	0
chr10	111078748	111078748	C	G	exonic	ADRA2A	.	nonsynonymous SNV	ADRA2A:NM_000681:exon1:c.C752G:p.P251R	.	286	1217	19	0	0	19	0.00774562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.023762	0.0141	0	0.0014	0.0077	0	0	0	0.1798	0.0079947	1236	154602	rs375697365	0.0045	0.0051	0.0026	0.0065	0.0910	0.0044	0.0044	0.0890	0.0882	3.779e-05	0.0001	0	0.0034	0	0.0038	4.54e-05	0.0061	0.0910	0.0033	0.0033	0.0017	0.0050	0.0960	0.0031	0.0030	0.0888	0.0859	9.65e-05	0	0.0008	0	0.0037	0	0	2.95e-05	0.0014	0.0960	0.033	0.44358	D	0.048	0.48594	D	.	.	.	.	.	.	0.002693	0.00908	U	8.920880	1	0.08975	N	.	.	.	-0.13	0.64818	T	-1.11	0.28703	N	0.169	0.17966	-0.9753	0.36059	T	0.189	0.54019	T	10	0.0013929904	0.00015	T	.	.	.	0.109	0.30843	.	.	0.551344072312	0.54791	0.49099629110237214	0.49020	.	.	0.856488347054	0.90589	D	.	.	.	-0.512724	0.00484	T	-0.412553	0.31931	T	0.00441534719150818	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	2.724763	0.35650	19.95	0.9154680438930568	0.20824	0.07155	0.13180	N	AEFDBCI	0.086527	0.17544	N	-0.671328715862301	0.16841	0.8616187	-0.654172431740839	0.18111	0.9660849	0.995644396510623	0.34242	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.93	2.94	0.33188	2.040000	0.40824	5.248000	0.48084	0.502000	0.22824	0.098000	0.22752	0.985000	0.30750	0.622000	0.31948	0.1712:0.6819:0.1469:0.0	8.822	0.34193	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.004110	0.008982	0.000000	0.000000	0.000000	0.034091	0.08333	1139.83	40	chr10	111078748	.	C	G	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.237;DP=308;ExcessHet=0;FS=4.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.94;SOR=0.368	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1150,0,1309	5	0	1	0
chr10	114290299	114290299	G	C	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon13:c.G2182C:p.V728L,VWA2:NM_001320804:exon13:c.G2182C:p.V728L	.	437	1079	6	0	0	6	0.00277264	.	.	.	712176	VWA2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.283	0.0479908215589	.	0.00119808	0.0032	0.0011	0	0	0.0017	0.0068	0.0052	0.0014	0.0012225	189	154602	rs45560935	0.0071	0.0068	0.0072	0.0070	0.0084	0.0070	0.0070	0.0082	0.0082	0.0009	0.0030	0.0077	2.798e-05	0.0012	0.0032	0.0084	0.0065	0.0018	0.0042	0.0042	0.0045	0.0039	0.0073	0.0039	0.0038	0.0067	0.0065	0.0012	0	0.0033	0.0049	0	0.0010	0	0.0073	0.0052	0.0010	0.062	0.36912	T	0.08	0.41913	T	0.819	0.45682	P	0.272	0.39956	B	0.065105	0.21904	N	0.461364	0.999974	0.18612	N	1.425	0.35738	L	-3.0	0.92158	D	-0.77	0.21429	N	0.235	0.26475	-0.3627	0.73183	T	0.431	0.77258	T	9	0.010863394	0.00240	T	0.047991	0.63174	D	0.283	0.60100	.	.	0.256283259241	0.25257	0.5600709737082584	0.55934	.	.	0.328970015049	0.14778	T	0.133824	0.46473	T	-0.332222	0.05945	T	-0.243451	0.50462	T	0.00259579810364478	0.00027	T	0.643636	0.25529	T	0.06709533	0.14499	0.08920413	0.20845	0.06709533	0.14498	0.08920413	0.20844	-3.533	0.16897	T	0.206353611543292	0.27553	0.118	0.24088	B	.	.	0.803261	0.11738	8.316	0.91708217591352614	0.21002	0.22141	0.21645	N	AEFDGBCI	0.294190	0.40463	N	-0.884419530040341	0.11212	0.5398869	-0.998199850672625	0.09825	0.491107	0.0831568253700793	0.15920	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.65	-1.47	0.08312	0.330000	0.19460	-1.448000	0.05416	-0.667000	0.04321	0.023000	0.19925	0.000000	0.08366	0.431000	0.27472	0.5818:0.0:0.4182:0.0	10.348	0.43102	628	0.65206	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	CTB-1144G6.6	Nerve_Tibial	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1461.83	34	chr10	114290299	.	G	C	1461.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.28;DP=276;ExcessHet=0;FS=0.758;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.063;SOR=0.796	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1472,0,1184	5	0	1	0
chr10	117548154	117548154	G	A	exonic	EMX2	.	nonsynonymous SNV	EMX2:NM_001165924:exon2:c.G496A:p.D166N	Schizencephaly	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.012970262883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.53426	D	.	.	.	.	.	.	.	.	.	.	0.535902	0.81001	D	.	.	.	.	.	.	.	.	.	0.105	0.08925	-0.8994	0.48054	T	0.144	0.46623	T	6	0.16659477	0.31104	T	0.01297	0.31999	T	.	.	.	.	0.774191030368	0.77212	.	.	.	.	.	.	.	.	.	.	-0.166278	0.25801	T	-0.476623	0.24807	T	0.301076658192931	0.25049	T	0.636736	0.25039	T	.	.	.	.	.	.	.	.	-3.267	0.13315	T	.	.	0.072	0.04080	B	.;.	.;.	1.415902	0.18319	13.67	0.99842102540392286	0.92229	0.92815	0.56613	D	AEFDBCI	0.121918	0.23681	N	-0.0171804518557059	0.41078	2.450713	0.154771919535207	0.47396	2.970398	0.999999990446405	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.24	5.24	0.72863	1.976000	0.40202	8.607000	0.77753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.187	0.93634	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1427.06	36	chr10	117548154	.	G	A	1427.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.502;DP=268;ExcessHet=0.4139;FS=0.662;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.777;SOR=0.703	GT:AD:DP:GQ:PL	0/1:35,31:66:99:695,0,917	4	0	2	0
chr10	119030318	119030318	-	CCA	exonic	NANOS1	.	nonframeshift insertion	NANOS1:NM_199461:exon1:c.517_518insCCA:p.T176_S177insT	Spermatogenic failure 12, Autosomal dominant	372	1147	3	0	0	3	0.00130605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs879248027	0.0004	0.0004	0.0004	0.0005	0.0062	0.0004	0.0004	0.0052	0.0048	0.0036	0.0014	0.0028	0.0062	0	0.0004	0.0002	0.0009	0.0015	0.0015	0.0015	0.0016	0.0015	0.0045	0.0014	0.0013	0.0030	0.0026	0.0033	0	0.0013	0.0041	0.0045	0	0	0.0003	0.0025	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	105.24	30	chr10	119030318	.	G	GCCA	105.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.253;DP=65;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.05;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:75:115,0,75	5	0	1	0
chr10	120513963	120513963	G	A	exonic	PLPP4	.	nonsynonymous SNV	PLPP4:NM_001030059:exon3:c.G218A:p.R73Q,PLPP4:NM_001318166:exon3:c.G218A:p.R73Q,PLPP4:NM_001318167:exon3:c.G218A:p.R73Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.00997361547022	.	.	4.968e-05	0	8.639e-05	0	0.0002	0	0	0.0002	4.53e-05	7	154602	rs748975790	8.141e-05	8.14e-05	7.487e-05	8.802e-05	7.734e-05	6.935e-05	6.487e-05	6.41e-05	5.91e-05	0	4.474e-05	0	2.519e-05	0.0003	0	7.734e-05	9.934e-05	6.961e-05	3.946e-05	3.941e-05	3.856e-05	4.04e-05	5.881e-05	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.416e-05	0	0	0	0	9.455e-05	0	5.881e-05	0	0	0.402	0.11156	T	0.296	0.27145	T	0.015	0.17086	B	0.004	0.10090	B	0.028101	0.25656	N	0.452394	0.999987	0.81001	D	.	.	.	-0.88	0.74689	T	-1.2	0.30555	N	0.342	0.38335	-0.8122	0.54417	T	0.230	0.59620	T	10	0.15988871	0.30030	T	0.009974	0.25946	T	0.215	0.50805	.	.	0.72062673939	0.71816	0.6800527502229324	0.67944	0.415885500396	0.42230	0.617542862892	0.55382	T	0.055847	0.30120	T	-0.244631	0.14764	T	-0.352503	0.38918	T	0.0745144516183429	0.09270	T	0.915108	0.69728	D	0.11141179	0.26328	0.09891263	0.23598	0.11141179	0.26327	0.09891263	0.23597	-6.945	0.53632	T	.	.	0.083	0.11654	B	.;.;.	.;.;.	3.724029	0.53232	23.3	0.99553253630953831	0.71273	0.67171	0.33336	D	AEFGCIJ	0.477765	0.52061	N	-0.00579540946318031	0.41592	2.490581	0.218991808750893	0.50900	3.277488	0.994284150774611	0.33568	0.706298	0.61202	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	4.949000	0.63298	9.830000	0.81856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8581:0.1419	15.064	0.71648	771	0.49057	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2173.06	35	chr10	120513963	.	G	A	2173.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.17;DP=383;ExcessHet=0.4139;FS=1.592;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.428;SOR=0.815	GT:AD:DP:GQ:PL	0/1:72,43:115:99:1006,0,1679	4	0	2	0
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.08333	1333.83	33	chr10	122216727	.	C	T	1333.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.021;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.264;SOR=0.702	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1344,0,1780	5	0	1	0
chr10	122299068	122299068	G	A	exonic	BTBD16	.	nonsynonymous SNV	BTBD16:NM_001318189:exon9:c.G728A:p.G243E,BTBD16:NM_144587:exon9:c.G725A:p.G242E	.	.	.	.	.	.	.	.	.	.	.	2427456	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00687834795004	.	.	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs147355457	0.0003	0.0003	0.0004	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	0.0002	4.474e-05	0	0	0	0.0005	0.0004	0.0003	5.798e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0003	0	0	6.545e-05	0	0	0	0	0.0004	0	0	0.004	0.65419	D	0.01	0.65728	D	0.001	0.07471	B	0.001	0.04355	B	0.341349	0.13958	N	0.670224	1	0.08975	N	0	0.06538	N	2.32	0.16640	T	0.03	0.06612	N	0.236	0.26596	-0.9875	0.33224	T	0.024	0.10103	T	10	0.108103156	0.20109	T	0.006878	0.18205	T	0.076	0.22200	0.618	0.75232	0.392239652056	0.38839	0.3833543667523381	0.38250	0.185083578846	0.20806	0.289548695087	0.08857	T	0.003989	0.03403	T	-0.537885	0.00345	T	-0.692338	0.06255	T	0.0824964435143897	0.10303	T	0.333467	0.07063	T	0.04853685	0.08476	0.083011426	0.18992	0.04853685	0.08476	0.083011426	0.18992	-1.807	0.02530	T	.	.	0.152	0.33664	B	.	.	2.663716	0.34712	19.70	0.97665538600689539	0.35224	0.08966	0.14813	N	ALL	0.248333	0.36875	N	-0.695412048822511	0.16151	0.8203963	-0.523508841820222	0.21515	1.164282	0.999999999999886	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.607795	0.38427	0	0.56214	0.19341	0	.	.	5.66	5.66	0.87293	2.756000	0.47228	.	.	-0.110000	0.15115	0.962000	0.33725	1.000000	0.68203	0.139000	0.19909	0.0:0.0:0.1703:0.8297	9.992	0.41048	938	0.14419	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1036.83	33	chr10	122299068	.	G	A	1036.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.167;DP=254;ExcessHet=0;FS=5.883;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.417;SOR=0.287	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1047,0,1025	5	0	1	0
chr10	122633295	122633295	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon36:c.G4231A:p.E1411K,DMBT1:NM_017579:exon48:c.G6085A:p.E2029K,DMBT1:NM_001320644:exon49:c.G6112A:p.E2038K,DMBT1:NM_007329:exon49:c.G6115A:p.E2039K,DMBT1:NM_001377530:exon52:c.G6502A:p.E2168K	.	.	.	.	.	.	.	.	.	.	.	3207553	DMBT1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.187	0.0137601425903	0.0024	0.00239617	0.0007	0.0089	0.0002	0	0	0	0	0	0.0007244	112	154602	rs112645522	0.0003	0.0003	0.0003	0.0002	0.0090	0.0003	0.0002	0.0081	0.0078	0.0090	0.0003	0	0	0	0.0007	2.698e-06	0.0012	5.797e-05	0.0025	0.0025	0.0026	0.0023	0.0087	0.0023	0.0022	0.0079	0.0076	0.0087	0	0.0006	0	0	0	0	0	0.0028	0	0.117	0.32769	T	0.039	0.51112	D	0.527	0.41330	P	0.181	0.41929	B	0.391867	0.13244	U	0.604873	1	0.08975	N	0.71	0.18616	N	2.25	0.17761	T	-1.75	0.50666	N	0.53	0.56403	-1.0781	0.07721	T	0.048	0.20434	T	10	0.0064243674	0.00146	T	0.01376	0.33405	T	0.187	0.46274	.	.	0.236278675362	0.23226	0.49736474730303243	0.49657	0.539597992946	0.51187	0.512709677219	0.40601	T	0.028962	0.20860	T	-0.460703	0.00973	T	-0.427722	0.30195	T	0.0420147288614007	0.04057	T	0.755224	0.38363	T	0.05478315	0.10559	0.08867343	0.20691	0.05478315	0.10559	0.08867343	0.20690	-6.187	0.47818	T	.	.	0.204	0.59091	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.265460	0.28955	17.97	0.99508494803114966	0.68499	0.38144	0.25922	N	AEFDBI	0.133062	0.25259	N	-0.339240211854061	0.27670	1.519972	-0.354431894277662	0.26372	1.456256	0.76719612996331	0.23608	0.553676	0.25195	0	0.626922	0.53725	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.28	3.4	0.38031	1.069000	0.30252	.	.	-0.677000	0.04263	0.827000	0.30089	0.730000	0.26410	0.155000	0.20479	0.0839:0.1522:0.7639:0.0	8.767	0.33868	571	0.70397	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB 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	0.1667	2227.06	33	chr10	122633295	.	G	A	2227.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.42;DP=370;ExcessHet=0.4139;FS=3.849;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=1.02;SOR=0.469	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1099,0,1743	4	0	2	0
chr10	122636044	122636044	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon37:c.G4331A:p.R1444H,DMBT1:NM_017579:exon49:c.G6185A:p.R2062H,DMBT1:NM_001320644:exon50:c.G6212A:p.R2071H,DMBT1:NM_007329:exon50:c.G6215A:p.R2072H,DMBT1:NM_001377530:exon53:c.G6602A:p.R2201H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00319302564903	0.0015	0.00259585	0.0004	0.0048	0	0	0	4.496e-05	0	6.058e-05	0.0004204	65	154602	rs199856639	0.0001	0.0001	0.0001	0.0001	0.0040	0.0001	0.0001	0.0034	0.0032	0.0040	0.0002	0.0001	0	0	0.0005	1.259e-05	0.0005	2.319e-05	0.0012	0.0012	0.0013	0.0011	0.0042	0.0011	0.0010	0.0037	0.0035	0.0042	0	0.0003	0.0012	0	0	0	1.47e-05	0.0014	0	0.669	0.04575	T	1.0	0.01155	T	0.008	0.14655	B	0.005	0.11217	B	0.732048	0.06376	N	1.172560	1	0.08975	N	0.725	0.18768	N	2.21	0.18414	T	2.87	0.00269	N	0.081	0.16308	-0.9660	0.38013	T	0.020	0.08453	T	10	0.0071528256	0.00163	T	0.003193	0.06996	T	0.021	0.04004	.	.	0.348101942276	0.34424	0.10967633304233301	0.10896	0.174241393469	0.19618	0.396219611168	0.24542	T	0.012147	0.10726	T	-0.683747	0.00046	T	-0.754528	0.03313	T	0.014381836168468	0.00289	T	0.0137986	0.00087	T	0.01975987	0.00514	0.025866369	0.00648	0.01975987	0.00513	0.025866369	0.00647	-3.786	0.20595	T	.	.	0.068	0.02639	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.488622	0.01904	0.158	0.1544210803512206	0.00378	0.00323	0.01694	N	AEFBI	0.031850	0.03484	N	-1.38940946166204	0.02737	0.1212714	-1.38817605753912	0.03377	0.1574118	0.00598563775109804	0.11096	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.37	-1.47	0.08312	-0.143000	0.10278	.	.	-0.046000	0.17342	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3911:0.0:0.226:0.3829	3.400	0.06897	570	0.70478	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	2195.06	34	chr10	122636044	.	G	A	2195.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.94;DP=288;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.443;SOR=0.711	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1095,0,922	4	0	2	0
chr10	122636161	122636161	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon37:c.G4448A:p.R1483Q,DMBT1:NM_017579:exon49:c.G6302A:p.R2101Q,DMBT1:NM_001320644:exon50:c.G6329A:p.R2110Q,DMBT1:NM_007329:exon50:c.G6332A:p.R2111Q,DMBT1:NM_001377530:exon53:c.G6719A:p.R2240Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00415114490683	0.0010	0.00159744	0.0003	0.0031	0	0	0.0002	0	0	0	0.0002587	40	154602	rs201259183	8.552e-05	8.551e-05	9.938e-05	7.152e-05	0.0024	7.313e-05	6.817e-05	0.0020	0.0018	0.0024	0.0001	0	0	7.491e-05	0.0002	1.439e-05	0.0002	3.48e-05	0.0008	0.0008	0.0008	0.0008	0.0029	0.0007	0.0007	0.0025	0.0024	0.0029	0	6.536e-05	0	0	9.429e-05	0	1.47e-05	0.0014	0	0.825	0.05341	T	0.742	0.05274	T	0.994	0.66517	D	0.436	0.45556	B	0.390462	0.04474	N	1.517430	1	0.08975	N	0.96	0.23930	L	2.26	0.17596	T	0.06	0.08495	N	0.028	0.01274	-0.9992	0.30143	T	0.018	0.07518	T	10	0.005709946	0.00127	T	0.004151	0.09963	T	0.041	0.10877	.	.	0.0806252709748	0.07271	0.08278961387479095	0.08213	0.167019727277	0.18835	0.18999171257	0.00225	T	0.014141	0.12098	T	-0.730691	0.00024	T	-0.826355	0.01328	T	0.0164118218151024	0.00408	T	0.171583	0.03035	T	0.022094391	0.00850	0.027538057	0.00915	0.022094391	0.00849	0.027538057	0.00915	-1.357	0.01496	T	.	.	0.115	0.23041	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.433939	0.02088	0.195	0.73026961422913816	0.10181	0.00717	0.03025	N	AEFGBI	0.050958	0.08956	N	-2.08683654121325	0.00137	0.005859077	-2.18710016082021	0.00120	0.005257791	0.999999360340619	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.52	-11.0	0.00133	-2.521000	0.01027	.	.	-1.789000	0.00640	0.000000	0.06391	0.000000	0.08366	0.577000	0.30821	0.2768:0.0799:0.4063:0.237	3.885	0.08599	570	0.70478	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB 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	.	.	.	.	.	.	.	.	0.1667	2770.06	34	chr10	122636161	.	G	A	2770.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.2;DP=341;ExcessHet=0.4139;FS=1.763;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.04;SOR=0.868	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1342,0,1099	4	0	2	0
chr10	123137633	123137633	G	A	exonic	HMX3	.	nonsynonymous SNV	HMX3:NM_001105574:exon2:c.G976A:p.A326T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0025	0.00499201	0.0031	0.0344	0.0045	0	0	0.0001	0.0044	0	0.0012807	198	154602	rs371335454	0.0006	0.0006	0.0007	0.0005	0.0179	0.0006	0.0006	0.0166	0.0161	0.0179	0.0023	0	2.642e-05	0	0.0006	0.0001	0.0015	2.684e-05	0.0050	0.0050	0.0051	0.0048	0.0165	0.0047	0.0045	0.0154	0.0150	0.0165	0	0.0037	0	0	0	0	2.941e-05	0.0052	0	0.144	0.25255	T	0.497	0.11299	T	0.349	0.33622	B	0.07	0.27859	B	0.000005	0.62929	D	0.000000	0.919769	0.36643	D	0.6	0.15550	N	-2.91	0.91696	D	-0.6	0.17834	N	0.294	0.33250	-0.1248	0.79522	T	0.430	0.77219	T	10	0.004415095	0.00090	T	.	.	.	0.315	0.63694	.	.	0.722340994916	0.71989	0.6094840894012252	0.60880	0.678397583926	0.59883	0.735640525818	0.72332	T	0.104847	0.41478	T	-0.282326	0.10423	T	-0.162062	0.58165	T	0.0161288583793228	0.00390	T	0.676832	0.28555	T	0.09205334	0.21587	0.14201182	0.33800	0.09205334	0.21586	0.14201182	0.33799	-6.203	0.47947	T	.	.	0.074	0.04889	B	.	.	3.761601	0.53977	23.4	0.99609583920949507	0.74694	0.94951	0.62900	D	AEFDBHCI	0.560751	0.56902	D	-0.151783548947576	0.35160	2.015967	0.0175936624653418	0.40532	2.420447	0.999999522174248	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.66	4.66	0.57857	1.326000	0.33341	8.580000	0.77642	0.656000	0.54149	0.986000	0.36153	1.000000	0.68203	0.949000	0.49496	0.0:0.2048:0.7952:0.0	13.479	0.60780	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	0.001535	0.000000	0.002778	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2672.06	34	chr10	123137633	.	G	A	2672.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.627;DP=307;ExcessHet=0.4139;FS=3.884;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.69;SOR=1.023	GT:AD:DP:GQ:PL	0/1:32,65:97:99:1605,0,792	4	0	2	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3886.55	86	chr10	124989543	.	T	C	3886.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.798;DP=634;ExcessHet=11.5949;FS=16.072;MLEAC=6;MLEAF=0.5;MQ=50.35;MQRankSum=-6.863;QD=6.18;ReadPosRankSum=0.379;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,14:111:99:0|1:124989533_G_A:296,0,3944:124989533	0	0	6	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	.	.	.	.	.	.	.	.	0.4167	1416.52	147	chr10	124994489	.	T	G	1416.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.95;DP=755;ExcessHet=6.1542;FS=33.012;MLEAC=5;MLEAF=0.417;MQ=58.07;MQRankSum=-8.191;QD=2.09;ReadPosRankSum=-3.293;SOR=3.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,12:124:99:0|1:124994489_T_G:167,0,4636:124994489	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	2194.52	159	chr10	124994501	.	G	A	2194.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.641;DP=861;ExcessHet=6.1542;FS=33.341;MLEAC=5;MLEAF=0.417;MQ=57.59;MQRankSum=-7.95;QD=3.04;ReadPosRankSum=-2.138;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,13:132:99:0|1:124994489_T_G:188,0,4907:124994489	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	2212.52	159	chr10	124994505	.	A	T	2212.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.83;DP=871;ExcessHet=6.1542;FS=33.335;MLEAC=5;MLEAF=0.417;MQ=57.51;MQRankSum=-7.894;QD=3.09;ReadPosRankSum=-1.23;SOR=3.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,13:132:99:0|1:124994489_T_G:188,0,4887:124994489	1	0	5	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	3005.55	168	chr10	124994530	.	G	A	3005.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.746;DP=943;ExcessHet=11.5949;FS=48.068;MLEAC=6;MLEAF=0.5;MQ=56.62;MQRankSum=-6.592;QD=3.63;ReadPosRankSum=2.07;SOR=4.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,16:145:99:0|1:124994523_G_A:273,0,5246:124994523	0	0	6	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	1629.54	164	chr10	124994542	.	C	T	1629.54	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.508;DP=944;ExcessHet=11.5949;FS=56.34;MLEAC=6;MLEAF=0.5;MQ=56.51;MQRankSum=-6.252;QD=2.04;ReadPosRankSum=3.19;SOR=4.285	GT:AD:DP:GQ:PL	0/1:124,16:140:51:51,0,3662	0	0	6	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	4211.55	168	chr10	124994577	.	C	A	4211.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.901;DP=938;ExcessHet=11.5949;FS=67.395;MLEAC=6;MLEAF=0.5;MQ=56.29;MQRankSum=-6.279;QD=5.19;ReadPosRankSum=2.52;SOR=4.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,17:148:99:0|1:124994577_C_A:320,0,5309:124994577	0	0	6	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	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998077	.	C	G	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.906;DP=835;ExcessHet=1.383;FS=18.751;MLEAC=4;MLEAF=0.667;MQ=58.23;MQRankSum=-8.16;QD=3.43;ReadPosRankSum=1.92;SOR=2.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,20:133:99:0|1:124998077_C_G:500,0,4583:124998077	0	0	3	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	.	.	.	.	.	.	.	.	0.5	1432.82	131	chr10	124998080	.	G	C	1432.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.443;DP=833;ExcessHet=1.383;FS=18.548;MLEAC=4;MLEAF=0.667;MQ=58.24;MQRankSum=-8.19;QD=3.42;ReadPosRankSum=2.2;SOR=2.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,20:132:99:0|1:124998077_C_G:503,0,4622:124998077	0	0	3	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	.	.	.	.	.	.	.	.	0.5	1441.82	129	chr10	124998087	.	T	C	1441.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.763;DP=839;ExcessHet=1.383;FS=18.297;MLEAC=4;MLEAF=0.667;MQ=58.22;MQRankSum=-8.13;QD=3.47;ReadPosRankSum=3.18;SOR=2.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,20:133:99:0|1:124998077_C_G:500,0,4685:124998077	0	0	3	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	.	.	.	.	.	.	.	.	0.5	1429.82	129	chr10	124998090	.	G	A	1429.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-0.079;DP=845;ExcessHet=1.383;FS=18.634;MLEAC=4;MLEAF=0.667;MQ=58.24;MQRankSum=-8.13;QD=3.4;ReadPosRankSum=3.54;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,20:137:99:0|1:124998077_C_G:488,0,4802:124998077	0	0	3	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	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998111	.	A	C	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.488;DP=845;ExcessHet=1.383;FS=13.991;MLEAC=4;MLEAF=0.667;MQ=58.27;MQRankSum=-8.308;QD=3.43;ReadPosRankSum=3.85;SOR=1.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,20:128:99:0|1:124998111_A_C:515,0,4475:124998111	0	0	3	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	.	.	.	.	.	.	.	.	0.5	1435.82	130	chr10	124998113	.	A	G	1435.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.104;DP=843;ExcessHet=1.383;FS=13.991;MLEAC=4;MLEAF=0.667;MQ=58.23;MQRankSum=-8.308;QD=3.43;ReadPosRankSum=3.51;SOR=1.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,20:128:99:0|1:124998111_A_C:515,0,4475:124998111	0	0	3	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	.	.	.	.	.	.	.	.	0.25	45.69	144	chr10	125003062	.	T	A	45.69	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.274;DP=740;ExcessHet=0.4139;FS=16.691;MLEAC=2;MLEAF=0.25;MQ=57.04;MQRankSum=-6.159;QD=0.24;ReadPosRankSum=1.39;SOR=1.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,9:120:33:0|1:125003062_T_A:33,0,4600:125003062	2	0	2	2
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	.	.	.	.	.	.	.	.	0.25	45.69	140	chr10	125003065	.	T	A	45.69	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.037;DP=736;ExcessHet=0.4139;FS=16.543;MLEAC=2;MLEAF=0.25;MQ=57.06;MQRankSum=-6.159;QD=0.24;ReadPosRankSum=1.12;SOR=1.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,9:120:33:0|1:125003062_T_A:33,0,4600:125003062	2	0	2	2
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	282.06	34	chr10	125039033	.	T	A	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.369;DP=377;ExcessHet=0.4139;FS=4.397;MLEAC=2;MLEAF=0.167;MQ=58.33;MQRankSum=-10.08;QD=1.24;ReadPosRankSum=1.5;SOR=0.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,14:124:99:0|1:125039033_T_A:246,0,4508:125039033	4	0	2	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	282.06	34	chr10	125039035	.	T	C	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.356;DP=372;ExcessHet=0.4139;FS=4.397;MLEAC=2;MLEAF=0.167;MQ=58.3;MQRankSum=-10.08;QD=1.24;ReadPosRankSum=1.57;SOR=0.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,14:124:99:0|1:125039033_T_A:246,0,4508:125039033	4	0	2	0
chr10	126974604	126974604	C	A	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377544:exon3:c.C152A:p.A51D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	32.07	1	chr10	126974604	.	C	A	32.07	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=12;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:33:40,0,33	4	0	1	1
chr10	133186208	133186208	G	C	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G860C:p.R287P	.	408	1110	4	0	0	4	0.00179856	.	.	.	2325030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00865584916163	.	.	0.0003	0	0	0	0	0.0003	0	0.0013	0.0002199	34	154602	rs752105461	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0015	0.0012	3.092e-05	5.041e-05	0.0026	0	2.024e-05	0.0025	8.249e-05	0.0004	0.0009	0.0002	0.0002	0.0002	0.0003	0.0012	0.0001	0.0001	0.0005	0.0004	2.407e-05	0	6.534e-05	0.0035	0	0	0	0.0001	0.0005	0.0012	0.297	0.15458	T	0.316	0.19362	T	0.494	0.43019	P	0.077	0.37346	B	0.953897	0.07674	N	1.026230	1	0.08975	N	.	.	.	2.67	0.18724	T	-1.15	0.29525	N	0.174	0.23884	-1.0338	0.19236	T	0.031	0.13330	T	10	0.011535138	0.00252	T	0.008656	0.22878	T	0.017	0.02790	0.262	0.20631	0.170165803431	0.16609	0.2459666774567312	0.24510	0.270215761304	0.29546	0.357813179493	0.19066	T	0.033244	0.22831	T	-0.522275	0.00427	T	-0.600975	0.12730	T	0.017870412163044	0.00514	T	0.335566	0.07155	T	0.16667916	0.37019	0.08654457	0.20057	0.16667916	0.37019	0.08654457	0.20057	-3.828	0.21223	T	.	.	0.120	0.29833	B	.;.	.;.	0.773306	0.11435	8.041	0.92218175862570817	0.21592	0.03967	0.09375	N	AEFDBI	0.103335	0.20706	N	-0.671549333671584	0.16835	0.8612437	-0.756511160625438	0.15562	0.8190947	0.0406992602695945	0.14451	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.21	2.27	0.27501	-0.015000	0.12572	0.119000	0.14890	0.647000	0.52776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1169:0.2216:0.6614:0.0	4.953	0.13373	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003539	0.000000	0.002732	0.005848	0.050000	0.000000	0.003086	0.003788	0.08333	837.83	38	chr10	133186208	.	G	C	837.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.74;DP=235;ExcessHet=0;FS=4.237;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.294;SOR=1.52	GT:AD:DP:GQ:PL	0/1:25,28:53:99:848,0,630	5	0	1	0
chr10	133186417	133186417	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G1069A:p.A357T	.	427	1091	4	0	0	4	0.00182983	.	.	.	2325297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00875637007389	.	.	0.0003	0	0	0	0	0.0003	0	0.0010	0.0002911	45	154602	rs201959912	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.987e-05	4.474e-05	0.0025	0	1.919e-05	0.0024	8.634e-05	0.0004	0.0010	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	2.405e-05	0	0.0001	0.0035	0	0	0	0.0001	0.0005	0.0012	1.0	0.00964	T	1.0	0.02693	T	0.006	0.21357	B	0.005	0.18489	B	0.558271	0.05410	N	1.271130	1	0.08975	N	.	.	.	2.55	0.20122	T	0.06	0.06488	N	0.029	0.00825	-1.0068	0.27912	T	0.021	0.08778	T	10	0.0071769655	0.00163	T	0.008756	0.23123	T	0.011	0.01250	0.07	0.00395	0.0297737177859	0.01360	0.23967221302424227	0.23881	0.177105754943	0.19927	0.287326157093	0.08534	T	0.027076	0.19905	T	-0.683419	0.00046	T	-0.827265	0.01311	T	0.00770742257572953	0.00090	T	0.393061	0.09795	T	0.032224067	0.03207	0.044767126	0.05872	0.032224067	0.03207	0.044767126	0.05872	-4.169	0.26301	T	.	.	0.092	0.13690	B	.;.	.;.	-0.188007	0.03153	0.510	0.58031025430780836	0.05901	0.01706	0.05419	N	AEFDBI	0.039509	0.05748	N	-1.54109555196729	0.01587	0.06935517	-1.55758168669406	0.01924	0.08779216	0.0235786180357086	0.13517	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	-1.69	0.07747	-1.269000	0.02942	-0.171000	0.11226	-1.775000	0.00659	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4341:0.1677:0.3982:0.0	4.321	0.10456	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	0.002518	0.000000	0.001359	0.005848	0.050000	0.000000	0.000000	0.003788	0.08333	1410.83	38	chr10	133186417	.	G	A	1410.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.864;DP=271;ExcessHet=0;FS=5.556;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=0.483;SOR=1.298	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1421,0,918	5	0	1	0
chr11	376469	376469	C	A	exonic	B4GALNT4	.	nonsynonymous SNV	B4GALNT4:NM_178537:exon14:c.C1346A:p.P449H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	.	0.00219649	0.0010	0	0.0003	0	0	1.782e-05	0	0.0071	0.0007633	118	154602	rs200464265	0.0004	0.0004	0.0002	0.0007	0.0070	0.0004	0.0004	0.0065	0.0063	0	0.0002	7.739e-05	2.533e-05	0	0.0004	7.21e-06	0.0005	0.0070	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0001	0.0052	0.0045	0	0	6.543e-05	0	0	0	0	0	0	0.0070	0.008	0.58626	D	0.009	0.66756	D	0.982	0.60036	D	0.578	0.50118	P	0.013430	0.01364	N	2.651750	0.996588	0.22968	N	2.7	0.79018	M	3.37	0.05847	T	-3.34	0.66325	D	0.284	0.32148	-1.0200	0.23715	T	0.031	0.13461	T	10	0.0053452253	0.00117	T	.	.	.	0.062	0.17934	0.201	0.11522	0.0934897674506	0.08844	0.4501806250193311	0.44936	0.328225827202	0.34941	0.742934465408	0.73405	T	0.007107	0.06527	T	-0.53522	0.00358	T	-0.538554	0.18438	T	0.126896493959956	0.15092	T	0.474053	0.14146	T	0.18124889	0.39286	0.20526144	0.44688	0.18124889	0.39286	0.20526144	0.44687	-7.117	0.54882	T	.	.	0.184	0.39865	B	.	.	3.296807	0.45235	22.1	0.99570449240272585	0.72379	0.14281	0.18319	N	AEFI	0.034911	0.04405	N	-0.00939412272604369	0.41428	2.477903	-0.105992792910176	0.35149	2.030008	0.0183773916801095	0.13051	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.61	3.61	0.40494	-0.026000	0.12340	2.967000	0.35781	0.437000	0.21030	0.005000	0.17040	1.000000	0.68203	0.347000	0.25591	0.2187:0.7813:0.0:0.0	9.111	0.35891	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003846	0.08333	424.83	34	chr11	376469	.	C	A	424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.89;DP=234;ExcessHet=0;FS=2.593;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.54;ReadPosRankSum=0.968;SOR=1.136	GT:AD:DP:GQ:PL	0/1:47,18:65:99:435,0,1250	5	0	1	0
chr11	498023	498023	G	A	exonic	RNH1	.	nonsynonymous SNV	RNH1:NM_203384:exon8:c.C1075T:p.R359W,RNH1:NM_203385:exon8:c.C1075T:p.R359W,RNH1:NM_203388:exon8:c.C1075T:p.R359W,RNH1:NM_203389:exon8:c.C1075T:p.R359W,RNH1:NM_002939:exon9:c.C1075T:p.R359W,RNH1:NM_203383:exon9:c.C1075T:p.R359W,RNH1:NM_203386:exon9:c.C1075T:p.R359W,RNH1:NM_203387:exon9:c.C1075T:p.R359W	.	.	.	.	.	.	.	.	.	.	.	2400708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.0638858280608	7.7e-05	0.000798722	0.0001	0.0002	0	0.0008	0	1.507e-05	0	0.0005	0.0001811	28	154602	rs374635782	8.688e-05	8.687e-05	5.718e-05	0.0001	0.0008	7.421e-05	6.969e-05	0.0006	0.0006	8.961e-05	0	0	0.0003	0	0	2.248e-05	0.0003	0.0008	0.0001	0.0001	8.992e-05	0.0002	0.0019	8.657e-05	7.25e-05	0.0010	0.0007	0.0001	0	0	0	0.0010	0	0	1.47e-05	0	0.0019	0.008	0.58626	D	0.014	0.66756	D	0.987	0.61912	D	0.152	0.34249	B	0.115745	0.02680	N	1.942170	1	0.08975	N	0.805	0.20218	L	0.59	0.53943	T	-3.61	0.69477	D	0.193	0.21969	-0.8360	0.52911	T	0.107	0.38832	T	10	0.022221953	0.00549	T	0.063886	0.69106	D	0.116	0.32463	.	.	0.704350777263	0.70178	0.2616547225435387	0.26078	0.189338636663	0.21250	0.260185420513	0.04913	T	0.201983	0.56003	T	-0.393485	0.02553	T	-0.460259	0.26570	T	0.0811654333368729	0.10136	T	0.328467	0.06836	T	0.36074114	0.57892	0.16000384	0.37289	0.36074114	0.57892	0.16000384	0.37288	-5.663	0.43363	T	.	.	0.142	0.31304	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.417646	0.31083	18.63	0.98198912805608318	0.39105	0.21093	0.21279	N	AEFDBCI	0.275597	0.39052	N	-0.653977462051634	0.17345	0.8917107	-0.811352872992663	0.14221	0.741927	0.997536016613686	0.35727	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.73	0.326	0.15150	0.578000	0.23476	1.921000	0.29710	0.590000	0.31872	0.000000	0.06391	0.012000	0.20211	0.004000	0.06068	0.0:0.5084:0.4916:0.0	13.918	0.63416	884	0.28482	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3453.83	40	chr11	498023	.	G	A	3453.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.678;DP=432;ExcessHet=0;FS=4.401;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.177;SOR=0.649	GT:AD:DP:GQ:PL	0/1:107,132:239:99:3464,0,2504	5	0	1	0
chr11	1017955	1017955	C	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G4846C:p.V1616L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00229174719971	.	.	0.0017	0.0038	0.0008	0.0032	0.0011	0.0011	0.0047	0.0030	.	.	.	rs113926343	7.88e-07	0.0008	0	1.578e-06	1.052e-06	0	0	.	.	0	0	0	0	0	0	1.052e-06	0	0	0	5.91e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.259	0.31472	B	0.152	0.34249	B	.	.	.	.	1	0.08975	N	1.155	0.29575	L	2.47	0.14783	T	-0.04	0.07590	N	0.027	0.00571	-0.9499	0.40989	T	0.021	0.08686	T	9	0.00694412	0.00158	T	0.002292	0.04397	T	0.003	0.00094	.	.	0.163833314356	0.15978	0.09761541318074733	0.09692	0.087332336583	0.09842	0.172479629517	0.00043	T	0.014369	0.12243	T	-0.399329	0.02339	T	-0.811385	0.01634	T	0.0507352199732214	0.05628	T	.	.	.	0.029291295	0.02401	0.033170562	0.02169	0.029291295	0.02400	0.033170562	0.02169	-7.603	0.58332	D	.	.	0.077	0.06295	B	.	.	-1.590968	0.00245	0.004	0.42620328911290351	0.03154	0.01256	0.04413	N	AEFDGBCI	0.024389	0.01504	N	-1.34491184671897	0.03178	0.1415301	-1.47816894898137	0.02524	0.1162249	0.999795503595	0.43153	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.73	-1.99	0.07047	-3.396000	0.00539	-14.292000	0.00411	-3.367000	0.00092	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2204:0.2998:0.4798:0.0	4.588	0.11689	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	.	.	.	.	.	.	.	.	0.08333	470.83	318	chr11	1017955	.	C	G	470.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.357;DP=1285;ExcessHet=0;FS=1.383;MLEAC=1;MLEAF=0.083;MQ=55.29;MQRankSum=-2.851;QD=2.85;ReadPosRankSum=0.083;SOR=0.547	GT:AD:DP:GQ:PL	0/1:133,32:180:99:481,0,4374	5	0	1	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	.	.	.	.	.	.	.	.	0.08333	68.83	293	chr11	1017980	.	G	C	68.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.78;DP=1268;ExcessHet=0;FS=4.271;MLEAC=1;MLEAF=0.083;MQ=54.75;MQRankSum=-4.434;QD=0.41;ReadPosRankSum=-1.631;SOR=1.44	GT:AD:DP:GQ:PL	0/1:155,13:168:79:79,0,6408	5	0	1	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.08333	1115.83	37	chr11	1075685	.	C	T	1115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.843;DP=268;ExcessHet=0;FS=4.484;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.09;SOR=0.328	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1126,0,923	5	0	1	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3427.23	381	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	3427.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=3138;ExcessHet=1.383;FS=3.222;MLEAC=2;MLEAF=0.167;MQ=54.83;MQRankSum=-3.156;QD=3.28;ReadPosRankSum=0.519;SOR=0.914	GT:AD:DP:GQ:PL	0/1:334,121:533:99:3298,0,22004	4	0	2	0
chr11	1096645	1096645	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	692	825	4	1	0	6	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198884028	0.0009	0.0007	0.0005	0.0012	0.0107	0.0008	0.0008	0.0100	0.0098	7.623e-05	0.0001	0	3.448e-05	0	0.0027	0.0001	0.0007	0.0107	7.443e-05	0.0004	9.884e-05	4.983e-05	0.0025	1.973e-05	1.047e-05	0.0004	0.0002	0	0	0	0	0	0	0	5.081e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1786.7	52	chr11	1096645	.	C	A	1786.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.235;DP=554;ExcessHet=0;FS=0.71;MLEAC=1;MLEAF=0.1;MQ=54.18;MQRankSum=1.49;QD=14.53;ReadPosRankSum=0.78;SOR=0.818	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1796,0,2676	4	0	1	1
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	.	.	.	.	.	.	.	.	0.2	144.13	17	chr11	1096743	.	T	C	144.13	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.11;DP=170;ExcessHet=1.383;FS=45.978;MLEAC=2;MLEAF=0.2;MQ=49.86;MQRankSum=-0.637;QD=2.06;ReadPosRankSum=-1.294;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,2:24:18:0|1:1096650_C_T:18,0,838:1096650	3	0	2	1
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1236.79	82	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	1236.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.413;DP=844;ExcessHet=0;FS=3.466;MLEAC=1;MLEAF=0.083;MQ=35.53;MQRankSum=-1.6;QD=8.03;ReadPosRankSum=-0.708;SOR=0.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,44:154:99:0|1:1097308_C_CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT:1247,0,2988:1097308	5	0	1	0
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1941.71	95	chr11	1097542	.	C	T	1941.71	.	AC=2;AF=0.333;AN=6;BaseQRankSum=2.06;DP=603;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=49.77;MQRankSum=3.29;QD=20.88;ReadPosRankSum=0.785;SOR=0.836	GT:AD:DP:GQ:PL	1/1:11,82:93:17:1956,17,0	2	1	0	3
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	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	.	.	.	.	.	.	.	.	0.2	117.73	63	chr11	1097805	.	C	A	117.73	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.531;DP=469;ExcessHet=0.4139;FS=8.798;MLEAC=2;MLEAF=0.2;MQ=33.9;MQRankSum=1.02;QD=0.88;ReadPosRankSum=-0.372;SOR=2.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,7:81:17:0|1:1097769_T_C:17,0,2107:1097769	3	0	2	1
chr11	1243709	1243709	A	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.A6829T:p.T2277S	.	476	1043	3	0	0	3	0.00143609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00398141172649	.	0.000998403	0.0009	0	8.643e-05	0	0	3.005e-05	0	0.0067	0.0001921	5	26028	rs566783011	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	0	0	0	2.519e-05	0	0.0021	1.259e-05	0.0004	0.0066	0.0002	0.0002	6.503e-05	0.0003	0.0062	0.0001	0.0001	0.0044	0.0038	0	0	0	0	0	0	0	0	0	0.0062	0.378	0.11262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.77	0.25841	T	-0.48	0.15379	N	0.068	0.04072	-1.0267	0.21527	T	0.054	0.22959	T	9	0.0059332848	0.00133	T	0.003981	0.09431	T	0.015	0.02232	.	.	0.043077524339	0.03247	0.2536995402099471	0.25283	.	.	0.205650538206	0.00640	T	0.024053	0.18250	T	-0.590838	0.00166	T	-0.618306	0.11317	T	0.0148934294328664	0.00316	T	0.242476	0.03503	T	0.029871758	0.02553	0.032949828	0.02110	0.029871758	0.02553	0.032949828	0.02109	-4.04	0.24400	T	.	.	0.160	0.35393	B	.	.	0.685435	0.10542	7.250	0.90342315894487868	0.19607	0.00900	0.03527	N	AEFI	0.042798	0.06686	N	-0.808591940972911	0.13090	0.6424752	-0.9173952337723	0.11684	0.596749	1.28984583444717E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.99	1.6	0.22686	1.304000	0.33087	-3.234000	0.02948	0.528000	0.24546	0.012000	0.18695	0.000000	0.08366	0.025000	0.12405	0.8629:0.0:0.1371:0.0	7.308	0.25631	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2052.83	36	chr11	1243709	.	A	T	2052.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.583;DP=518;ExcessHet=0;FS=2.177;MLEAC=1;MLEAF=0.083;MQ=59.49;MQRankSum=2.18;QD=14.46;ReadPosRankSum=-0.898;SOR=0.947	GT:AD:DP:GQ:PL	0/1:66,76:142:99:2063,0,1781	5	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.08333	2289.83	34	chr11	1956322	.	G	A	2289.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.1;DP=374;ExcessHet=0;FS=0.534;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-2.098;SOR=0.763	GT:AD:DP:GQ:PL	0/1:97,92:189:99:2300,0,2347	5	0	1	0
chr11	2403286	2403286	C	G	exonic	TSSC4	.	nonsynonymous SNV	TSSC4:NM_001297659:exon3:c.C653G:p.P218R,TSSC4:NM_005706:exon3:c.C653G:p.P218R,TSSC4:NM_001297658:exon4:c.C653G:p.P218R,TSSC4:NM_001297660:exon4:c.C653G:p.P218R,TSSC4:NM_001297661:exon4:c.C461G:p.P154R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0517748546446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.69154	D	0.999	0.77913	D	0.98	0.74843	D	0.000043	0.53742	U	0.075021	0.940296	0.81001	D	1.965	0.53209	M	1.5	0.35960	T	-3.07	0.63207	D	0.616	0.70615	-0.6932	0.60759	T	0.193	0.54564	T	10	0.38401398	0.54405	T	0.051775	0.64800	D	0.246	0.55340	0.435	0.48664	0.29385284311	0.29004	0.4150058638441848	0.41416	0.130674028925	0.14740	0.598430991173	0.52683	T	0.206016	0.56523	T	-0.044927	0.45215	T	-0.302311	0.44482	T	0.927377164363861	0.59019	D	0.577142	0.20757	T	0.408272	0.61302	0.33283466	0.59128	0.408272	0.61302	0.33283466	0.59127	-3.592	0.19466	T	.	.	0.465	0.64113	A	.;.;.;.	.;.;.;.	4.024048	0.59457	24.1	0.99781117605807468	0.86780	0.90319	0.51400	D	AEFBCI	0.587022	0.58483	D	0.311736897913766	0.56751	3.840304	0.150816183642422	0.47185	2.952561	0.999998519137935	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.67	2.75	0.31439	4.612000	0.60873	7.129000	0.57618	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.386000	0.26469	0.0:0.9002:0.0:0.0998	10.066	0.41476	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	.	.	.	.	.	.	.	.	0.1667	2162.06	33	chr11	2403286	.	C	G	2162.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.933;DP=320;ExcessHet=0.4139;FS=5.591;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.55;SOR=0.404	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1305,0,1200	4	0	2	0
chr11	3669344	3669344	G	A	exonic	CHRNA10	.	nonsynonymous SNV	CHRNA10:NM_020402:exon3:c.C214T:p.R72W	.	421	1100	1	0	0	1	0.000454339	.	.	.	2356369	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.806	0.250809389265	7.7e-05	.	0.0002	0	8.658e-05	0.0001	0	0.0003	0	0.0001	0.0001746	27	154602	rs200272875	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	6.411e-05	5.911e-05	2.989e-05	0.0001	0.0045	0	3.745e-05	0.0003	7.736e-05	0.0004	0.0001	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	9.003e-05	0	0	0.0001	0.0049	0	0	0	7.352e-05	0	0.0006	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000071	0.52346	D	0.000000	0.999281	0.81001	D	3.575	0.93507	H	-1.3	0.79571	T	-6.73	0.92605	D	0.883	0.88137	0.681	0.92934	D	0.740	0.91105	D	10	0.3449691	0.51480	T	0.250809	0.89106	D	0.806	0.93699	.	.	0.939134122139	0.93850	0.6302270130243415	0.62956	0.608453772384	0.55612	0.81268286705	0.83903	D	0.682699	0.90699	D	0.271225	0.80548	D	0.400128	0.92114	D	0.344743636754267	0.26811	T	0.980802	0.93421	D	0.7776993	0.82512	0.78776217	0.87507	0.7776993	0.82514	0.78776217	0.87508	-10.5	0.76847	D	.	.	0.699	0.72918	P	.	.	5.019356	0.83409	28.0	0.99870006878076589	0.94815	0.97315	0.73978	D	AEFDGBI	0.458235	0.50935	N	0.500016668733299	0.67093	5.035711	0.410557811763356	0.62220	4.434034	0.99988561968933	0.44867	0.372202	0.05800	0	0.546412	0.12157	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	5.54	4.62	0.56946	1.807000	0.38540	4.438000	0.43375	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.895000	0.43227	0.0:0.0:0.8426:0.1574	13.513	0.60978	835	0.38313	Neurotransmitter-gated ion-channel ligand-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	.	.	.	.	.	.	.	.	0.08333	1129.83	35	chr11	3669344	.	G	A	1129.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=265;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.727;SOR=0.941	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1140,0,1156	5	0	1	0
chr11	6768261	6768261	C	T	exonic	OR2AG2	.	nonsynonymous SNV	OR2AG2:NM_001004490:exon1:c.G697A:p.G233R	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00144634529571	0.0016	0.00159744	0.0016	0.0010	0.0014	0	0	0.0023	0.0033	0.0005	0.0016041	248	154602	rs143018775	0.0022	0.0022	0.0022	0.0022	0.0081	0.0021	0.0021	0.0063	0.0056	0.0004	0.0017	0.0015	0	0.0001	0.0081	0.0025	0.0026	0.0005	0.0019	0.0019	0.0020	0.0018	0.0057	0.0017	0.0017	0.0047	0.0044	0.0005	0	0.0057	0.0023	0	0	0.0204	0.0023	0.0043	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000084	0.51296	D	0.000000	1	0.08975	N	2.66	0.77858	M	8.25	0.00271	T	-7.04	0.93833	D	0.307	0.34659	-1.0040	0.28755	T	0.002	0.00526	T	10	0.010412455	0.00232	T	0.001446	0.02164	T	0.068	0.19811	0.584	0.71118	0.45553875121	0.45177	0.2119157015489632	0.21107	0.05690108089	0.06292	0.215650826693	0.01074	T	0.008477	0.07783	T	-0.530015	0.00384	T	-0.539964	0.18300	T	0.0602325163226866	0.07206	T	0.891311	0.62583	D	0.87381077	0.89166	0.76935583	0.86381	0.87381077	0.89167	0.76935583	0.86382	-9.395	0.70204	D	.	.	0.362	0.60630	A	.;.;.	.;.;.	3.953177	0.57923	23.9	0.9985118727065555	0.93013	0.08069	0.14042	N	AEFGBI	0.070082	0.13899	N	0.150399072860873	0.48831	3.090569	-0.0673493762495646	0.36749	2.142636	2.88814230646248E-4	0.06355	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.47	3.55	0.39770	-0.022000	0.12424	0.424000	0.18252	0.596000	0.33519	0.000000	0.06391	0.029000	0.21193	0.003000	0.05239	0.0:0.9061:0.0:0.0939	10.793	0.45648	496	0.76301	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	6697.06	44	chr11	6768261	.	C	T	6697.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.411;DP=605;ExcessHet=0.4139;FS=3.203;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.342;SOR=0.502	GT:AD:DP:GQ:PL	0/1:109,116:225:99:3443,0,3194	4	0	2	0
chr11	7938716	7938716	C	T	exonic	OR10A3	.	nonsynonymous SNV	OR10A3:NM_001003745:exon1:c.G805A:p.E269K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0038765257092	0.0005	.	0.0003	0	0	0	0	0.0005	0	6.056e-05	0.0002264	35	154602	rs142623287	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0001	0	0	0	0	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	4.83e-05	0	6.545e-05	0	0	0	0	0.0004	0.0005	0	0.242	0.17584	T	0.457	0.12704	T	0.958	0.54977	D	0.419	0.45047	B	0.017456	0.27721	U	0.162995	0.999448	0.21182	N	1.2	0.30300	L	8.73	0.00091	T	-2.05	0.47008	N	0.206	0.22870	-0.7392	0.58493	T	0.000	0.00152	T	10	0.06826961	0.09631	T	0.003877	0.09117	T	0.076	0.22200	.	.	0.531245695338	0.52774	0.10761347339283284	0.10690	0.030149542159	0.03112	0.24258056283	0.03028	T	0.009584	0.08721	T	-0.453981	0.01070	T	-0.555738	0.16779	T	0.154635116457939	0.17466	T	.	.	.	0.17411381	0.38197	0.1620334	0.37659	0.17411381	0.38197	0.1620334	0.37658	-5.333	0.40268	T	.	.	0.123	0.25721	B	.;.	.;.	3.736124	0.53476	23.4	0.99783850695842202	0.87043	0.26584	0.23035	N	AEFBI	0.080422	0.16261	N	0.020454684407766	0.42785	2.58456	-0.00974991343322435	0.39274	2.32609	3.21668443426285E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.65	4.65	0.57626	0.513000	0.22476	0.874000	0.22338	0.541000	0.25215	0.000000	0.06391	0.000000	0.08366	0.873000	0.41610	0.0:0.8998:0.0:0.1002	8.903	0.34663	793	0.45818	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1685.83	36	chr11	7938716	.	C	T	1685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.283;DP=320;ExcessHet=0;FS=4.145;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=0.985;QD=12.97;ReadPosRankSum=-0.564;SOR=0.989	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1696,0,1854	5	0	1	0
chr11	12204322	12204322	G	A	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon2:c.G337A:p.V113I,MICAL2:NM_001282667:exon2:c.G337A:p.V113I,MICAL2:NM_001282664:exon3:c.G337A:p.V113I,MICAL2:NM_001282665:exon3:c.G337A:p.V113I,MICAL2:NM_001346292:exon3:c.G337A:p.V113I,MICAL2:NM_001346294:exon3:c.G337A:p.V113I,MICAL2:NM_001346298:exon3:c.G337A:p.V113I,MICAL2:NM_001282663:exon4:c.G337A:p.V113I,MICAL2:NM_001282668:exon4:c.G337A:p.V113I,MICAL2:NM_001346293:exon4:c.G337A:p.V113I,MICAL2:NM_001346295:exon4:c.G337A:p.V113I,MICAL2:NM_001346296:exon4:c.G337A:p.V113I,MICAL2:NM_001346297:exon4:c.G337A:p.V113I,MICAL2:NM_001346299:exon4:c.G337A:p.V113I,MICAL2:NM_014632:exon4:c.G337A:p.V113I	.	430	1059	33	0	0	33	0.0153417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	.	0.0026	0.00778754	0.0055	0.0005	0.0024	0	0.0032	0.0039	0.0088	0.0211	0.0050064	774	154602	rs140406273	0.0042	0.0042	0.0038	0.0047	0.0197	0.0042	0.0041	0.0189	0.0186	0.0006	0.0018	3.826e-05	5.038e-05	0.0038	0.0069	0.0034	0.0053	0.0197	0.0029	0.0029	0.0026	0.0032	0.0178	0.0026	0.0026	0.0148	0.0137	0.0004	0	0.0041	0	0.0002	0.0044	0.0034	0.0031	0.0038	0.0178	0.053	0.56456	T	0.006	0.92824	D	0.104	0.25941	B	0.215	0.37512	B	0.000001	0.84330	D	0.000000	1	0.81001	D	0.51	0.13489	N	-3.73	0.95458	D	-0.99	0.26422	N	0.389	0.43029	0.385	0.88870	D	0.769	0.92157	D	9	0.008889675	0.00201	T	.	.	.	0.395	0.71004	.	.	0.769179187583	0.76706	0.7287106623859314	0.72815	0.441022210684	0.44097	0.584412813187	0.50707	T	0.038793	0.24967	T	-0.101395	0.36194	T	0.0978326	0.76765	D	0.023508386497665	0.01085	T	0.908909	0.69206	D	0.15731739	0.35455	0.13362809	0.32039	0.15731739	0.35454	0.13362809	0.32038	-8.562	0.65248	D	.	.	0.132	0.36315	B	.;.;.;.;.	.;.;.;.;.	4.339909	0.66570	25.0	0.998640528353262	0.94184	0.98884	0.88144	D	AEFBI	0.907839	0.86237	D	0.148236922659775	0.48730	3.081587	0.353058625645098	0.58690	4.041303	0.999999999999998	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.7	5.7	0.88690	8.116000	0.89434	9.910000	0.82419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.429	0.94749	900	0.24599	FAD-binding domain;.;FAD-binding domain;FAD-binding domain;FAD-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	0.009567	0.005051	0.001359	0.008772	0.000000	0.008621	0.018293	0.015152	0.08333	1826.83	33	chr11	12204322	.	G	A	1826.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.695;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.614;SOR=0.725	GT:AD:DP:GQ:PL	0/1:61,69:130:99:1837,0,1584	5	0	1	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	31.91	59	chr11	33085953	.	G	A	31.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.303;DP=318;ExcessHet=0;FS=95.007;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=1.2;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,12:68:39:0|1:33085952_T_C:39,0,1776:33085952	2	0	1	3
chr11	35222374	35222374	G	A	splicing	CD44	NM_001202557:exon9:c.882-1G>A	.	.	.	421	1071	28	2	0	32	0.0147194	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	0.0096	0.0022	0.0103	0	0.0049	0.0066	0.0097	0.0141	0.0024838	384	154602	rs140184039	0.0118	0.0097	0.0118	0.0119	0.0139	0.0117	0.0116	0.0132	0.0129	0.0020	0.0036	0.0030	7.942e-05	0.0047	0.0103	0.0127	0.0128	0.0139	0.0067	0.0067	0.0070	0.0065	0.0139	0.0064	0.0063	0.0113	0.0103	0.0020	0.0033	0.0052	0.0023	0.0004	0.0044	0.0136	0.0106	0.0071	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	.	.	.	.	.	.	.	.	0.08333	523.83	35	chr11	35222374	.	G	A	523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=242;ExcessHet=0;FS=5.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.951;SOR=1.329	GT:AD:DP:GQ:PL	0/1:46,22:68:99:534,0,1140	5	0	1	0
chr11	56290915	56290915	G	A	exonic	OR8H1	.	nonsynonymous SNV	OR8H1:NM_001005199:exon1:c.C148T:p.R50C	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00226515428395	0.0014	0.000399361	0.0026	0.0005	0.0024	0	0.0003	0.0032	0.0033	0.0038	0.0023221	359	154602	rs114085258	0.0023	0.0023	0.0022	0.0024	0.0139	0.0023	0.0022	0.0114	0.0105	0.0004	0.0020	0.0018	2.519e-05	0.0005	0.0139	0.0024	0.0023	0.0037	0.0016	0.0016	0.0014	0.0017	0.0024	0.0014	0.0013	0.0021	0.0020	0.0004	0	0.0021	0.0017	0	0.0004	0.0102	0.0024	0.0024	0.0021	0.131	0.26629	T	0.222	0.26883	T	0.007	0.14184	B	0.005	0.11217	B	0.751571	0.09696	N	0.885812	1	0.08975	N	1.635	0.41844	L	5.36	0.01050	T	-3.77	0.71397	D	0.129	0.12341	-0.9319	0.43859	T	0.003	0.00864	T	10	0.008479685	0.00192	T	0.002265	0.04314	T	0.012	0.01476	.	.	0.323886383625	0.31992	0.121807884539681	0.12107	0.0194599050397	0.01906	0.176154866815	0.00064	T	0.015399	0.12927	T	-0.634558	0.00090	T	-0.685114	0.06676	T	0.0118400986416438	0.00184	T	0.206779	0.02461	T	0.13738309	0.31811	0.11470877	0.27690	0.13738309	0.31811	0.11470877	0.27689	-5.737	0.44022	T	.	.	0.113	0.22969	B	.;.;.	.;.;.	1.607499	0.20547	14.80	0.66336125590452277	0.08029	0.00339	0.01760	N	AEFI	0.022536	0.01138	N	-1.47895737634507	0.01999	0.08781918	-1.5823665782927	0.01763	0.08020581	2.65419837908199E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.98	-5.67	0.02247	-3.928000	0.00374	.	.	0.301000	0.18947	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.6126:0.1046:0.1775:0.1053	4.916	0.13201	187	0.92701	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	0.009082	0.000000	0.012228	0.023392	0.000000	0.008621	0.003067	0.003817	0.08333	4067.83	36	chr11	56290915	.	G	A	4067.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=492;ExcessHet=0;FS=0.428;MLEAC=1;MLEAF=0.083;MQ=59.97;MQRankSum=-1.355;QD=13.84;ReadPosRankSum=-1.366;SOR=0.645	GT:AD:DP:GQ:PL	0/1:141,153:294:99:4078,0,3614	5	0	1	0
chr11	56470374	56470374	C	T	exonic	OR5M3	.	nonsynonymous SNV	OR5M3:NM_001004742:exon1:c.G124A:p.G42S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00550381715403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs983567516	6.843e-06	8.893e-06	4.086e-06	9.629e-06	8.966e-05	3.46e-06	2.52e-06	2.376e-05	1.258e-05	8.966e-05	0	0	0	0	0	3.598e-06	1.656e-05	2.319e-05	6.58e-06	6.569e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.059	0.37536	T	0.075	0.42794	T	0.633	0.40250	P	0.264	0.39629	B	0.000706	0.42254	D	0.000000	0.999999	0.08975	N	1.18	0.29980	L	5.38	0.01033	T	-3.43	0.67359	D	0.089	0.06720	-0.8735	0.50264	T	0.004	0.01125	T	10	0.2272135	0.39595	T	0.005504	0.14166	T	0.097	0.27909	0.546	0.66015	0.31077124679	0.30691	0.35819924500028133	0.35733	0.102494100127	0.11603	0.248005956411	0.03561	T	0.011702	0.10405	T	-0.224509	0.17381	T	-0.560268	0.16352	T	0.545226335525513	0.34299	D	0.773423	0.59406	T	0.249922	0.47990	0.3175543	0.57729	0.249922	0.47990	0.3175543	0.57728	-6.882	0.53166	T	.	.	0.147	0.32372	B	.;.;.;.	.;.;.;.	0.950264	0.13263	9.765	0.99188135839720604	0.54906	0.13972	0.18153	N	AEFI	0.101277	0.20345	N	-0.424716121321984	0.24605	1.329767	-0.447504942551813	0.23619	1.289026	1.21535226932743E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	3.34	0.37357	-1.756000	0.01911	.	.	0.416000	0.20752	0.000000	0.06391	0.000000	0.08366	0.097000	0.18139	0.0:0.6707:0.1582:0.1711	5.991	0.18695	245	0.90404	.;.;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	.	.	.	.	.	.	.	.	0.08333	1710.83	37	chr11	56470374	.	C	T	1710.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=325;ExcessHet=0;FS=1.37;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.494;SOR=0.836	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1721,0,1658	5	0	1	0
chr11	56490838	56490838	C	T	exonic	OR5M8	.	nonsynonymous SNV	OR5M8:NM_001005282:exon1:c.G533A:p.C178Y	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0435079132396	0.0015	0.000599042	0.0025	0.0006	0.0024	0	0.0003	0.0031	0.0033	0.0036	0.0022962	355	154602	rs138015382	0.0022	0.0022	0.0021	0.0024	0.0134	0.0022	0.0021	0.0110	0.0101	0.0004	0.0020	0.0018	0	0.0004	0.0134	0.0023	0.0022	0.0036	0.0015	0.0015	0.0014	0.0017	0.0023	0.0014	0.0013	0.0020	0.0019	0.0004	0	0.0021	0.0017	0	0.0004	0.0102	0.0023	0.0019	0.0021	0.004	0.65419	D	0.016	0.60972	D	0.186	0.29254	B	0.248	0.38946	B	0.000532	0.43581	D	0.000000	0.999856	0.49910	D	4.11	0.97368	H	0.06	0.61798	T	-10.89	0.99244	D	0.924	0.92784	-0.1214	0.79602	T	0.390	0.74416	T	10	0.17161718	0.31890	T	0.043508	0.61018	D	0.342	0.66392	.	.	0.697589686059	0.69497	0.36235771181923543	0.36149	0.00995304507162	0.00909	0.402249157429	0.25383	T	0.052113	0.29070	T	-0.15179	0.28031	T	0.00803209	0.70855	D	0.155709351559736	0.17549	T	0.873613	0.58243	D	0.7403689	0.80313	0.6827156	0.81350	0.7403689	0.80315	0.6827156	0.81351	-7.141	0.55057	T	.	.	0.351	0.56625	A	.	.	2.841059	0.37485	20.5	0.9889017120642537	0.47984	0.96577	0.69837	D	AEFI	0.654769	0.62733	D	0.315262003062904	0.56930	3.858816	0.336687262439069	0.57711	3.937747	0.998949662240528	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	4.35	0.51454	7.813000	0.84661	.	.	0.544000	0.25403	1.000000	0.71638	0.991000	0.31484	0.139000	0.19909	0.0:1.0:0.0:0.0	14.902	0.70330	259	0.89842	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	0.009606	0.000000	0.012228	0.023392	0.000000	0.000000	0.003106	0.007576	0.08333	2206.83	33	chr11	56490838	.	C	T	2206.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.393;DP=359;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=0.008;QD=12.61;ReadPosRankSum=0.312;SOR=0.633	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2217,0,2506	5	0	1	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	0.08333	547.83	33	chr11	57741941	.	C	T	547.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.085;DP=198;ExcessHet=0;FS=2.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.318;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,24:40:99:0|1:57741941_C_T:558,0,418:57741941	5	0	1	0
chr11	58118518	58118518	C	G	exonic	OR9I1	.	nonsynonymous SNV	OR9I1:NM_001005211:exon1:c.G927C:p.Q309H	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0017464591403	0.0015	0.00199681	0.0023	0.0007	0.0006	0	0.0003	0.0025	0.0023	0.0064	0.0021216	328	154602	rs78218902	0.0027	0.0027	0.0026	0.0027	0.0051	0.0026	0.0026	0.0047	0.0045	0.0005	0.0012	3.924e-05	0	0.0005	0.0005	0.0029	0.0021	0.0051	0.0017	0.0017	0.0017	0.0018	0.0066	0.0016	0.0015	0.0048	0.0042	0.0004	0.0011	0.0014	0	0	0.0008	0	0.0027	0.0005	0.0066	0.032	0.44694	D	0.052	0.47581	T	0.003	0.11197	B	0.002	0.06944	B	0.244438	0.15642	N	0.529823	0.999998	0.08975	N	0.12	0.08593	N	7.81	0.00336	T	-0.75	0.21003	N	0.306	0.34552	-0.9602	0.39143	T	0.001	0.00188	T	10	0.0051858723	0.00113	T	0.001746	0.02934	T	0.021	0.04004	0.323	0.30387	0.043077524339	0.03247	0.11375534099243384	0.11303	0.01488363945	0.01414	0.251041471958	0.03878	T	0.009635	0.08763	T	-0.607642	0.00131	T	-0.645346	0.09283	T	0.00447250848855902	0.00048	T	0.178282	0.01754	T	0.059110884	0.11976	0.06251627	0.12243	0.059110884	0.11975	0.06251627	0.12242	-3.846	0.21493	T	.	.	0.110	0.22609	B	.;.;.	.;.;.	0.478189	0.08477	5.237	0.96061645574548626	0.28593	0.05746	0.11674	N	AEFBI	0.069210	0.13687	N	-0.8836841713395	0.11230	0.5408413	-0.850386526472921	0.13279	0.6879384	5.04543286494343E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	2.9	0.32809	0.106000	0.15191	-0.542000	0.08577	0.549000	0.26987	0.020000	0.19661	0.000000	0.08366	0.078000	0.17132	0.0:0.669:0.2325:0.0985	6.637	0.22081	397	0.82902	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1059.83	36	chr11	58118518	.	C	G	1059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.734;DP=249;ExcessHet=0;FS=2.041;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.051;SOR=0.453	GT:AD:DP:GQ:PL	0/1:30,42:72:99:1070,0,775	5	0	1	0
chr11	58203454	58203454	G	A	exonic	OR1S2	.	nonsynonymous SNV	OR1S2:NM_001004459:exon1:c.C728T:p.S243F	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00228935207681	0.0015	0.000998403	0.0014	0.0007	8.715e-05	0	0.0003	0.0023	0	0.0002	0.0014618	226	154602	rs150759965	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0032	0.0032	0.0003	0.0004	3.826e-05	0	0.0003	0.0007	0.0033	0.0022	0.0002	0.0013	0.0013	0.0016	0.0011	0.0022	0.0012	0.0011	0.0019	0.0018	0.0007	0	0.0010	0	0	0.0004	0	0.0022	0.0019	0	0.0	0.91255	D	0.003	0.76473	D	0.994	0.66517	D	0.975	0.73362	D	0.043912	0.23692	N	0.304308	1	0.08975	N	3.435	0.92070	M	8.04	0.00313	T	-5.85	0.88495	D	0.293	0.33140	-1.0636	0.10878	T	0.003	0.01059	T	10	0.009837478	0.00221	T	0.002289	0.04397	T	0.064	0.18567	.	.	0.551220473365	0.54778	0.08712565818314942	0.08645	0.0208532295275	0.02063	.	.	.	0.026217	0.19446	T	-0.453544	0.01076	T	-0.426051	0.30385	T	0.112984814801264	0.13730	T	0.763824	0.39073	T	0.7702838	0.82065	0.8311787	0.90261	0.7702838	0.82067	0.8311787	0.90262	-8.595	0.65056	D	.	.	0.182	0.39613	B	.;.	.;.	2.866015	0.37883	20.6	0.99682572365147382	0.79373	0.08400	0.14334	N	AEFGI	0.046031	0.07597	N	0.270090364975258	0.54638	3.629011	0.00421630426395582	0.39909	2.373584	5.04111399564214E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	3.82	0.43153	0.941000	0.28602	3.229000	0.36897	0.676000	0.76740	0.001000	0.13787	0.777000	0.26748	0.053000	0.15439	0.0:0.1516:0.8484:0.0	14.118	0.64702	360	0.84920	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	3384.83	37	chr11	58203454	.	G	A	3384.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.558;DP=523;ExcessHet=0;FS=0.507;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.301;SOR=0.768	GT:AD:DP:GQ:PL	0/1:92,127:219:99:3395,0,2680	5	0	1	0
chr11	59578311	59578311	T	C	exonic	OSBP	.	nonsynonymous SNV	OSBP:NM_002556:exon12:c.A1898G:p.D633G	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.639	0.0580433243498	.	.	5.786e-05	9.612e-05	0	0	0	7.51e-05	0	6.152e-05	5.82e-05	9	154602	rs763784991	5.336e-05	5.336e-05	5.445e-05	5.225e-05	0.0003	4.344e-05	4.017e-05	0.0001	9.193e-05	2.987e-05	0.0002	0	0	0	0.0003	4.586e-05	0.0002	3.478e-05	7.882e-05	7.879e-05	5.137e-05	0.0001	0.0003	4.495e-05	3.511e-05	8.877e-05	5.386e-05	4.823e-05	0	0.0003	0	0	0	0	7.348e-05	0	0.0002	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.475	0.71894	M	1.3	0.35590	T	-5.84	0.88431	D	0.929	0.93370	-0.4303	0.71057	T	0.273	0.64453	T	10	0.9194267	0.91298	D	0.058043	0.67180	D	0.639	0.86232	.	.	0.471862085557	0.46814	0.9624422852502884	0.96230	2.24847628594	0.96075	0.626802563667	0.56692	T	0.35752	0.72421	T	0.0412687	0.57211	T	0.0581717	0.74123	D	0.867699563503265	0.51770	D	0.979302	0.92791	D	0.7330276	0.79895	0.71565396	0.83218	0.7330276	0.79897	0.71565396	0.83219	-9.58	0.71356	D	.	.	0.440	0.61710	A	.	.	5.027686	0.83596	28.1	0.99847408967844953	0.92750	0.99278	0.93852	D	AEFBI	0.902443	0.85034	D	0.878772525147622	0.90680	10.51588	0.835374928801588	0.92132	11.25438	0.999999658839545	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	7.804000	0.84553	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.177	0.72607	424	0.81215	.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	4137.06	35	chr11	59578311	.	T	C	4137.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.35;DP=458;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.404;SOR=0.696	GT:AD:DP:GQ:PL	0/1:76,75:151:99:2087,0,1962	4	0	2	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	836.45	77	chr11	61740527	.	G	C	836.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.875;DP=464;ExcessHet=6.1542;FS=405.124;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.901;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,25:77:99:0|1:61740527_G_C:386,0,1391:61740527	1	0	5	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	2249.55	76	chr11	61740531	.	T	C	2249.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.876;DP=490;ExcessHet=11.5949;FS=293.869;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.58;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,25:76:99:0|1:61740527_G_C:388,0,1385:61740527	0	0	6	0
chr11	62678051	62678051	G	A	exonic	UBXN1	.	nonsynonymous SNV	UBXN1:NM_001286078:exon3:c.C181T:p.R61W,UBXN1:NM_001286077:exon5:c.C358T:p.R120W,UBXN1:NM_015853:exon5:c.C358T:p.R120W	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	7.7e-05	0.00279553	0.0012	0	0	0.0150	0	0.0001	0	0.0005	0.0010479	162	154602	rs117555780	0.0004	0.0004	0.0004	0.0004	0.0117	0.0004	0.0004	0.0109	0.0105	0	0	0	0.0117	0	0.0003	3.597e-05	0.0002	0.0005	0.0006	0.0006	0.0005	0.0007	0.0156	0.0005	0.0005	0.0129	0.0119	0	0	6.554e-05	0	0.0156	0	0	7.351e-05	0	0.0006	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.052299	0.999633	0.47961	D	3.07	0.87108	M	1.69	0.27032	T	-5.22	0.85027	D	0.634	0.64733	-0.9060	0.47332	T	0.086	0.33522	T	10	0.008662492	0.00196	T	.	.	.	0.271	0.58633	.	.	0.279809986126	0.27602	0.35753564639156343	0.35667	2.00016760847	0.93824	0.79307025671	0.80910	T	0.404526	0.76096	T	-0.279707	0.10698	T	-0.156303	0.58682	T	0.128321572366758	0.15226	T	0.973003	0.92760	D	0.70982635	0.78598	0.65843105	0.79994	0.70982635	0.78599	0.65843105	0.79995	-9.934	0.73516	D	.	.	0.387	0.65519	A	.;.;.;.;.	.;.;.;.;.	5.091136	0.85017	28.5	0.99913687808108997	0.98238	0.75491	0.36964	D	AEFDBCI	.	.	.	0.534633128316703	0.69154	5.31667	0.475574628489934	0.66374	4.943943	0.999994852790271	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.1	4.17	0.48303	1.558000	0.35917	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.839:0.161	13.211	0.59248	405	0.82444	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4021.06	40	chr11	62678051	.	G	A	4021.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=453;ExcessHet=0.4139;FS=1.976;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.5;SOR=0.577	GT:AD:DP:GQ:PL	0/1:82,85:167:99:2210,0,2033	4	0	2	0
chr11	62910311	62910311	G	A	exonic	CHRM1	.	nonsynonymous SNV	CHRM1:NM_000738:exon2:c.C790T:p.R264W	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0152911730628	.	.	0.0001	0	0	0.0001	0	0.0001	0	0.0002	9.06e-05	14	154602	rs781487671	5.346e-05	5.336e-05	4.228e-05	6.474e-05	0.0005	4.352e-05	4.025e-05	0.0001	0.0001	0.0001	0	0	2.519e-05	0	0.0005	4.497e-05	1.657e-05	0.0002	3.945e-05	3.94e-05	5.141e-05	2.693e-05	0.0002	1.716e-05	1.13e-05	1.171e-05	6.25e-06	4.83e-05	0	0	0	0	0	0	4.412e-05	0	0.0002	0.029	0.46513	D	0.036	0.52060	D	0.001	0.07471	B	0.0	0.01387	B	0.136479	0.18446	N	0.429938	0.98072	0.25091	N	1.775	0.45938	L	0.21	0.60361	T	-0.73	0.20576	N	0.132	0.12770	-0.9526	0.40520	T	0.131	0.44268	T	10	0.10382229	0.19108	T	0.015291	0.35936	T	0.056	0.15993	.	.	0.457822240193	0.45404	0.7070118361765791	0.70643	0.912470087647	0.71115	0.853696346283	0.90171	D	0.468362	0.80232	T	-0.335856	0.05680	T	-0.440776	0.28721	T	0.0294728133780554	0.01909	T	0.80302	0.45008	T	0.063606076	0.13410	0.042263392	0.04993	0.063606076	0.13409	0.042263392	0.04993	-5.099	0.38274	T	.	.	0.166	0.36928	B	.;.	.;.	2.254424	0.28799	17.92	0.96884140168052102	0.31473	0.16282	0.19316	N	AEFDGBI	0.208716	0.33477	N	-0.676021912614472	0.16707	0.8535114	-0.630490998545798	0.18712	1.000785	0.999999077001978	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.72	0.212	0.14516	-0.003000	0.12836	.	.	-0.126000	0.13398	0.000000	0.06391	1.000000	0.68203	0.958000	0.51230	0.0914:0.0:0.4721:0.4365	6.667	0.22235	804	0.43891	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	.	.	.	.	.	.	.	.	0.1667	2024.06	33	chr11	62910311	.	G	A	2024.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.41;DP=303;ExcessHet=0.4139;FS=3.24;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.308;SOR=0.45	GT:AD:DP:GQ:PL	0/1:27,35:62:99:1161,0,801	4	0	2	0
chr11	65780185	65780203	GCAGTGGTGGCCGCCAGCA	-	exonic	AP5B1	.	frameshift deletion	AP5B1:NM_138368:exon2:c.290_308del:p.L97Pfs*55	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386329563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	727.03	36	chr11	65780184	.	GGCAGTGGTGGCCGCCAGCA	G	727.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.574;DP=120;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=1.24;SOR=0.904	GT:AD:DP:GQ:PL	0/1:9,8:17:99:309,0,354	4	0	2	0
chr11	67664499	67664499	G	A	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon8:c.C770T:p.P257L,ALDH3B2:NM_001354345:exon9:c.C770T:p.P257L	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	.	0.0018	0.00279553	0.0026	0.0004	0.0010	0	0	0.0026	0.0022	0.0076	0.0023738	367	154602	rs150084712	0.0025	0.0025	0.0023	0.0027	0.0072	0.0024	0.0024	0.0068	0.0066	0.0004	0.0007	0.0085	2.519e-05	1.872e-05	0.0063	0.0023	0.0026	0.0072	0.0019	0.0019	0.0017	0.0021	0.0104	0.0017	0.0016	0.0081	0.0073	0.0004	0	0.0012	0.0098	0	0	0	0.0023	0.0014	0.0104	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.545	0.99110	H	-3.69	0.95317	D	-9.7	0.98602	D	0.989	0.99670	1.091	0.99295	D	0.957	0.98615	D	10	0.12536263	0.23821	T	.	.	.	0.928	0.98267	.	.	0.976308020779	0.97605	0.9449000254571344	0.94472	0.777711585674	0.65120	0.622250556946	0.56047	T	0.494025	0.81734	T	0.213359	0.75148	D	0.538826	0.95405	D	0.230741646468653	0.21987	T	0.992251	0.97542	D	0.9802403	0.99128	0.9513399	0.98480	0.9802403	0.99128	0.9513399	0.98480	-10.231	0.75283	D	.	.	0.466	0.62985	A	.;.	.;.	5.238448	0.87935	29.4	0.99897445217261727	0.96971	0.99222	0.93031	D	AEFDBI	0.873197	0.79542	D	0.986518143290859	0.95316	13.50433	0.839598244448149	0.92395	11.40123	0.9999999998381	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	9.833000	0.98330	11.147000	0.87239	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	16.108	0.81049	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.004076	0.029240	0.000000	0.008621	0.012195	0.000000	0.1667	3760.06	33	chr11	67664499	.	G	A	3760.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.33;DP=496;ExcessHet=0.4139;FS=1.29;MLEAC=2;MLEAF=0.167;MQ=59.91;MQRankSum=0;QD=11.19;ReadPosRankSum=0.555;SOR=0.617	GT:AD:DP:GQ:PL	0/1:95,81:176:99:2044,0,2509	4	0	2	0
chr11	68688878	68688878	A	G	exonic	GAL	.	nonsynonymous SNV	GAL:NM_015973:exon5:c.A253G:p.N85D	.	429	1088	5	0	0	5	0.00229253	.	.	.	526463	GAL-related_disorder|Familial_temporal_lobe_epilepsy_8	.|MONDO:MONDO:0014650,MedGen:C4225318,OMIM:616461,Orphanet:101046	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.0041346410659	0.0018	0.000199681	0.0018	0.0007	0.0004	0	0.0003	0.0030	0.0011	0.0003	0.0018046	279	154602	rs145825008	0.0022	0.0022	0.0022	0.0021	0.0027	0.0021	0.0021	0.0026	0.0026	0.0005	0.0002	0.0007	0	0.0003	0.0023	0.0027	0.0016	0.0002	0.0013	0.0013	0.0015	0.0010	0.0024	0.0011	0.0011	0.0021	0.0020	0.0005	0	6.533e-05	0.0006	0	0.0003	0	0.0024	0.0009	0.0002	0.356	0.12070	T	0.416	0.14284	T	0.002	0.09854	B	0.005	0.11217	B	0.031693	0.25133	N	0.434676	1	0.08975	N	1.01	0.25309	L	0.88	0.46028	T	-2.2	0.49519	N	0.127	0.12055	-1.0406	0.17132	T	0.066	0.27364	T	10	0.007835507	0.00178	T	0.004135	0.09900	T	0.088	0.25558	.	.	0.344483371355	0.34058	0.2692163837963068	0.26834	0.14339573165	0.16189	0.319076061249	0.13281	T	0.315604	0.68720	T	-0.677592	0.00050	T	-0.748196	0.03557	T	0.00332309520042867	0.00035	T	0.348865	0.07732	T	0.105139	0.24859	0.06379725	0.12692	0.091293454	0.21386	0.076005	0.16788	-2.787	0.08064	T	0.10230146235944937	0.07760	0.079	0.07083	B	.	.	0.334140	0.07081	3.650	0.63880400772978929	0.07342	0.03331	0.08406	N	AEDBCI	0.056894	0.10553	N	-1.02357252254032	0.08117	0.3794409	-1.08820614304315	0.07931	0.3878409	0.428211273009373	0.20348	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	3.94	0.036	0.13508	0.347000	0.19760	0.924000	0.22727	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6341:0.0:0.3659:0.0	6.259	0.20101	809	0.43032	Galanin message associated peptide (GMAP)|Galanin message associated peptide (GMAP)	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1657.83	36	chr11	68688878	.	A	G	1657.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.09;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.22;SOR=0.658	GT:AD:DP:GQ:PL	0/1:66,71:137:99:1668,0,1728	5	0	1	0
chr11	69067504	69067504	A	T	exonic	TPCN2	.	nonsynonymous SNV	TPCN2:NM_139075:exon8:c.A728T:p.Q243L	.	.	.	.	.	.	.	.	0.0645	0.466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.282746572528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13744	T	0.287	0.21210	T	0.009	0.38028	B	0.009	0.40614	B	0.409415	0.13017	N	0.684405	0.870085	0.28220	N	1.175	0.29870	L	-4.42	0.97469	D	-1.83	0.42957	N	0.506	0.53796	0.330	0.88030	D	0.775	0.92353	D	10	0.2779212	0.45360	T	0.282747	0.90289	D	0.547	0.81193	0.277	0.23004	0.826045039834	0.82439	0.5005053005675622	0.49971	0.235332845833	0.26065	0.383998990059	0.22822	T	0.50644	0.82463	D	0.232756	0.76978	D	0.0965618	0.76679	D	0.370952739704327	0.27834	T	0.525248	0.17252	T	0.13076338	0.30502	0.078223035	0.17501	0.13076338	0.30502	0.078223035	0.17500	-4.553	0.31576	T	.	.	0.092	0.15160	B	.;.;.;.	.;.;.;.	3.217547	0.43821	21.8	0.95819222579028052	0.27907	0.97805	0.77262	D	AEFDBI	0.712055	0.66530	D	-0.109212199029725	0.36991	2.145809	0.0095593303685193	0.40156	2.392156	0.999639590619422	0.41205	0.651	0.46895	0	0.653731	0.59785	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.97	4.97	0.65419	3.278000	0.51366	8.810000	0.78271	0.743000	0.86499	0.994000	0.38300	1.000000	0.68203	0.461000	0.28141	1.0:0.0:0.0:0.0	11.350	0.48820	929	0.16858	Ion transport domain;Ion transport domain;Ion transport domain;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	.	.	.	.	.	.	.	.	0.08333	473.83	42	chr11	69067504	.	A	T	473.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.567;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,18:43:99:0|1:69067500_T_C:484,0,668:69067500	5	0	1	0
chr11	71582755	71582755	C	0	exonic	KRTAP5-11	.	.	.	.	435	1026	56	4	1	65	0.0302457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2432.45	38	chr11	71582755	.	C	*	2432.45	.	AC=3;AF=0.25;AN=12;DP=709;ExcessHet=0.7136;FS=4.23;MLEAC=3;MLEAF=0.25;MQ=59.82;QD=5.95;SOR=0.463	GT:AD:DP:GQ:PL	0/1:78,45:123:99:1689,0,3054	3	0	3	0
chr11	74033924	74033924	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6236T:p.T2079M	.	421	1071	30	0	0	30	0.0138122	.	.	.	1291895	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.184	.	.	0.00439297	0.0110	0	0.0052	0	0	0.0012	0.0053	0.0201	0.0014036	217	154602	rs184111772	0.0019	0.0018	0.0014	0.0024	0.0184	0.0018	0.0018	0.0176	0.0173	0.0002	0.0015	0.0008	0	0	0.0097	0.0008	0.0021	0.0184	0.0010	0.0010	0.0008	0.0013	0.0149	0.0009	0.0008	0.0122	0.0111	0.0002	0	0.0011	0.0009	0.0002	0	0.0102	0.0007	0.0019	0.0149	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000590	0.43095	D	0.096031	0.882274	0.35776	D	2.705	0.79137	M	2.64	0.12780	T	-2.09	0.47683	N	0.574	0.59648	-1.0499	0.14425	T	0.096	0.36159	T	7	0.0060827434	0.00137	T	.	.	.	0.184	0.45763	.	.	0.337378238328	0.33340	0.4445737345665607	0.44375	.	.	.	.	.	0.053507	0.29462	T	-0.286743	0.09966	T	-0.169726	0.57469	T	0.0842597628729641	0.10523	T	0.873413	0.58193	D	0.089841336	0.21004	0.21382648	0.45909	0.075775586	0.17095	0.17880712	0.40573	-5.338	0.40318	T	0.8030745479137866	0.87944	0.097	0.15788	B	.	.	4.330860	0.66357	25.0	0.9991052077426007	0.98022	0.97068	0.72503	D	AEFGBI	0.573744	0.57681	D	0.515381272732333	0.67998	5.157176	0.613423312346808	0.75913	6.395608	0.999999989327057	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	5.553000	0.66992	5.818000	0.50061	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.338	0.94317	327	0.86637	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	3201.83	35	chr11	74033924	.	G	A	3201.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=374;ExcessHet=0;FS=4.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.589;SOR=0.836	GT:AD:DP:GQ:PL	0/1:71,115:186:99:3212,0,1728	5	0	1	0
chr11	74497045	74497045	G	T	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.G140T:p.R47I	.	437	1054	29	2	0	33	0.0154134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0163	0	0.0111	0	0	0.0115	0.0227	0.0201	0.002141	331	154602	rs192945527	0.0073	0.0036	0.0053	0.0087	0.0316	0.0070	0.0069	0.0263	0.0243	0.0013	0.0029	0.0171	0	7.812e-05	0.0316	0.0035	0.0066	0.0201	0.0031	0.0031	0.0029	0.0033	0.0116	0.0029	0.0028	0.0092	0.0083	0.0009	0.0187	0.0037	0.0161	0	9.443e-05	0.0238	0.0035	0.0033	0.0116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1070.83	34	chr11	74497045	.	G	T	1070.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.743;DP=267;ExcessHet=0;FS=1.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.494;SOR=0.968	GT:AD:DP:GQ:PL	0/1:32,37:69:99:1081,0,877	5	0	1	0
chr11	74636254	74636254	C	G	exonic	POLD3	.	nonsynonymous SNV	POLD3:NM_001363597:exon11:c.C1060G:p.L354V,POLD3:NM_006591:exon11:c.C1177G:p.L393V	.	436	1065	20	1	0	22	0.010223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0054	0.00758786	0.0048	0.0120	0.0036	0	0	0.0038	0.0111	0.0095	0.0047089	728	154602	rs147578662	0.0044	0.0045	0.0040	0.0048	0.0140	0.0043	0.0043	0.0129	0.0125	0.0140	0.0033	0.0125	0	0.0001	0.0137	0.0038	0.0057	0.0104	0.0061	0.0061	0.0061	0.0062	0.0122	0.0058	0.0057	0.0113	0.0110	0.0122	0.0186	0.0040	0.0138	0	0	0.0136	0.0036	0.0047	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.906936	0.07391	N	1.040440	1	0.08975	N	-0.805	0.01590	N	.	.	.	0.93	0.01551	N	0.128	0.12198	-1.0058	0.28216	T	0.007	0.02399	T	9	0.009622067	0.00217	T	.	.	.	0.186	0.46104	.	.	0.27715347029	0.27323	0.017684955252262904	0.01723	0.136271015109	0.15368	0.399592012167	0.25011	T	0.054	0.29655	T	-0.524436	0.00414	T	-0.514416	0.20862	T	0.00392473038531743	0.00042	T	0.10439	0.01051	T	0.035855096	0.04301	0.034463543	0.02519	0.035855096	0.04300	0.034463543	0.02519	-1.504	0.01911	T	.	.	0.043	0.00026	B	.;.;.	.;.;.	-0.562606	0.01677	0.120	0.079146042684005963	0.00053	0.00993	0.03770	N	AEFBI	0.014095	0.00212	N	-1.61163960912611	0.01207	0.05249856	-1.48734499859597	0.02448	0.1125918	0.993142806065922	0.33102	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.7	-2.42	0.06164	-0.401000	0.07293	-0.041000	0.12668	-0.107000	0.15377	0.542000	0.27283	0.124000	0.22932	0.054000	0.15518	0.2595:0.2184:0.1911:0.3309	0.108	0.00050	295	0.88218	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.020202	0.019022	0.023392	0.050000	0.017241	0.003049	0.015152	0.08333	1327.83	34	chr11	74636254	.	C	G	1327.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.407;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.446;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,34:61:99:0|1:74636253_C_T:1338,0,1031:74636253	5	0	1	0
chr11	78658413	78658413	A	G	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon34:c.T7955C:p.I2652T	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0516012032973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.297	0.20551	T	0.501	0.37169	P	0.058	0.26451	B	0.000026	0.55875	N	0.119994	0.970165	0.38779	D	1.5	0.37844	L	-2.5	0.89219	D	-0.6	0.17834	N	0.106	0.09066	-0.2755	0.75662	T	0.454	0.78709	T	9	0.119888246	0.22698	T	0.051601	0.64730	D	0.279	0.59619	0.694	0.83126	0.110392049598	0.10638	0.38789296920661737	0.38704	0.352013665624	0.37038	0.689756691456	0.65671	T	0.094253	0.39379	T	-0.00710966	0.50668	T	-0.247989	0.50014	T	0.908971130847931	0.56373	D	0.840116	0.51512	T	0.10432148	0.24660	0.104492694	0.25098	0.10432148	0.24660	0.104492694	0.25097	-4.194	0.26665	T	0.12574580119496806	0.12567	0.306	0.53487	B	.	.	2.540064	0.32855	19.17	0.38074288237269294	0.02547	0.90784	0.52254	D	AEFDBI	0.497708	0.53212	N	0.00792381080437241	0.42216	2.539384	0.143081232903301	0.46777	2.918172	0.954372008485592	0.28128	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	4.52	0.54797	3.893000	0.55955	6.203000	0.54917	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9306:0.0:0.0694:0.0	11.517	0.49777	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	6713.06	36	chr11	78658413	.	A	G	6713.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.33;DP=665;ExcessHet=0.4139;FS=1.095;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.021;SOR=0.8	GT:AD:DP:GQ:PL	0/1:127,129:256:99:3497,0,3359	4	0	2	0
chr11	78670022	78670022	T	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon32:c.A6323G:p.Y2108C	Tremor, hereditary essential, 5, Autosomal dominant	421	1094	7	0	0	7	0.00318907	.	.	.	973819	Tremor,_hereditary_essential,_5|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014756,MedGen:C4225223,OMIM:616736|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.859	0.193454303888	8e-05	.	0.0003	0.0001	0.0004	0	0	0.0002	0.0045	0.0005	0.0002393	37	154602	rs199597334	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	0.0003	3.826e-05	0	1.873e-05	0.0016	0.0001	0.0004	0.0007	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	9.242e-05	0.0003	0.0002	9.653e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0.0008	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.555	0.74557	M	-2.73	0.90679	D	-7.67	0.96317	D	0.946	0.95374	0.796	0.94359	D	0.832	0.94376	D	9	0.8593582	0.85148	D	0.193454	0.86304	D	0.859	0.95691	.	.	0.855755013898	0.85436	0.6582113387227471	0.65758	1.08233471969	0.77171	0.906079351902	0.97086	D	0.769416	0.93816	D	0.211622	0.74984	D	0.422581	0.92827	D	0.841276109218597	0.49432	D	1.000	0.99817	D	0.84473985	0.86949	0.77236474	0.86563	0.84473985	0.86951	0.77236474	0.86564	-12.072	0.85200	D	0.6492023433362442	0.72108	0.565	0.69390	P	.;.	.;.	5.643354	0.92759	33	0.99792230011611927	0.87750	0.97654	0.76186	D	AEFDGBI	0.935161	0.92960	D	0.721000088859149	0.81010	7.422873	0.674235804161141	0.80426	7.296413	0.999976972244521	0.50053	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.69	4.69	0.58546	8.017000	0.88732	7.950000	0.75812	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.624	0.68208	871	0.31377	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.08333	2239.83	34	chr11	78670022	.	T	C	2239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.11;DP=347;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.35;SOR=0.719	GT:AD:DP:GQ:PL	0/1:82,81:163:99:2250,0,2180	5	0	1	0
chr11	82932519	82932519	C	T	exonic	DDIAS	.	nonsynonymous SNV	DDIAS:NM_001363481:exon5:c.C1181T:p.S394L,DDIAS:NM_145018:exon6:c.C1181T:p.S394L	.	428	1086	8	0	0	8	0.00366972	.	.	.	3661903	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0194978454767	.	.	0.0003	0	0	0	0	0	0.0011	0.0019	0.0002135	33	154602	rs140627913	0.0001	0.0001	4.764e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	0	0	0	2.519e-05	0	0.0007	4.496e-06	0.0001	0.0019	7.222e-05	7.218e-05	5.14e-05	9.398e-05	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.003	0.68238	D	0.113	0.36901	T	0.999	0.77913	D	0.88	0.62516	P	0.266510	0.15211	N	0.606911	1	0.81001	D	.	.	.	0.89	0.45636	T	-4.06	0.74582	D	0.117	0.10626	-0.8413	0.52560	T	0.207	0.56553	T	9	0.022558123	0.00566	T	0.019498	0.41878	T	0.207	0.49555	0.257	0.19845	0.39694197178	0.39312	0.12593667477936668	0.12519	0.0339437621462	0.03563	.	.	.	0.078317	0.35863	T	-0.406959	0.02083	T	-0.364608	0.37517	T	0.199211552739143	0.20372	T	0.650435	0.26116	T	0.15718736	0.35432	0.2153233	0.46116	0.15718736	0.35432	0.2153233	0.46115	-4.19	0.26607	T	.	.	0.080	0.07985	B	.;.	.;.	1.201597	0.15936	12.21	0.38069310740091578	0.02546	0.68076	0.33666	D	AEFGBI	0.141346	0.26349	N	-0.0155255940065112	0.41152	2.456498	-0.182020413323913	0.32197	1.829415	0.999519582842014	0.40117	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	4.71	0.59010	1.935000	0.39802	0.369000	0.17657	0.599000	0.40250	0.008000	0.17931	0.000000	0.08366	0.007000	0.07825	0.0:0.926:0.0:0.074	13.193	0.59145	578	0.69858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2400.83	33	chr11	82932519	.	C	T	2400.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=369;ExcessHet=0;FS=3.198;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.117;SOR=0.762	GT:AD:DP:GQ:PL	0/1:102,94:196:99:2411,0,2535	5	0	1	0
chr11	90086048	90086050	GTT	-	exonic	UBTFL1	.	nonframeshift deletion	UBTFL1:NM_001143975:exon1:c.99_101del:p.F34del	.	443	1077	2	0	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.403e-06	1.379e-06	0	2.817e-06	2.363e-05	2.3e-07	9e-08	3.92e-06	1.47e-06	0	0	0	0	0	0	0	0	2.363e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1950.79	33	chr11	90086047	.	CGTT	C	1950.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=369;ExcessHet=0;FS=0.702;MLEAC=1;MLEAF=0.083;MQ=41.64;MQRankSum=-5.397;QD=17.57;ReadPosRankSum=-1.801;SOR=0.767	GT:AD:DP:GQ:PL	0/1:60,51:111:99:1961,0,2352	5	0	1	0
chr11	96092211	96092237	TGCTGCTGCTGCTGCTGCTGCTGCTGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1794_1820del:p.Q613_Q621del	Mucoepidermoid salivary gland carcinoma (3)	523	84	111	621	183	1536	0.889546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0316	.	0.0081	0.0011	0	0	0.0008	0.0100	0	0.0104	0.0016106	249	154602	rs781325682	0.0051	0.0048	0.0049	0.0053	0.0121	0.0050	0.0050	0.0097	0.0089	0.0007	0.0015	0.0150	0	0.0006	0.0121	0.0051	0.0062	0.0091	0.0039	0.0038	0.0041	0.0037	0.0087	0.0036	0.0035	0.0066	0.0059	0.0006	0.0629	0.0015	0.0145	0	0.0003	0.0103	0.0056	0.0020	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	18150.3	75	chr11	96092210	.	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	T	18150.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.677;DP=720;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=31.54;ReadPosRankSum=1.54;SOR=0.16	GT:AD:DP:GQ:PL	1/0:1,62:110:99:4111,1765,2310	5	0	1	0
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	.	.	.	.	.	.	.	.	0.4	756.44	129	chr11	106010660	.	C	G	756.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-3.078;DP=816;ExcessHet=3.1439;FS=243.716;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.98;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,32:161:67:.:.:67,0,4158:.	1	0	4	1
chr11	108482164	108482164	C	T	exonic	POGLUT3	.	nonsynonymous SNV	POGLUT3:NM_001363503:exon4:c.G743A:p.R248Q,POGLUT3:NM_153705:exon4:c.G743A:p.R248Q	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0037	0.00139776	0.0038	0.0009	8.646e-05	0	0.0077	0.0053	0.0056	0.0026	0.0037774	584	154602	rs186063712	0.0045	0.0045	0.0045	0.0045	0.0049	0.0044	0.0044	0.0048	0.0048	0.0006	0.0003	0.0067	0	0.0083	0.0010	0.0049	0.0035	0.0027	0.0035	0.0035	0.0034	0.0036	0.0054	0.0032	0.0031	0.0050	0.0048	0.0006	0	0.0001	0.0061	0	0.0082	0	0.0054	0.0028	0.0033	0.088	0.32296	T	0.166	0.31225	T	0.806	0.45231	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.98	0.21865	T	-1.8	0.42384	N	0.612	0.62866	-1.0978	0.04367	T	0.047	0.20116	T	10	0.006697327	0.00152	T	.	.	.	0.119	0.33137	.	.	0.330589388543	0.32661	0.7326316064024624	0.73208	0.759004592836	0.64143	0.3074670434	0.11525	T	0.008436	0.07749	T	-0.295377	0.09102	T	-0.19292	0.55316	T	0.0369718364538798	0.03151	T	0.848615	0.53011	T	0.4207075	0.62139	0.31173235	0.57179	0.4207075	0.62139	0.31173235	0.57178	-9.151	0.68664	D	.	.	0.094	0.16143	B	.;.	.;.	4.086770	0.60831	24.3	0.99934380038121418	0.99535	0.95489	0.64924	D	AEFBI	0.642920	0.61972	D	0.351084018428282	0.58796	4.054221	0.427423632869112	0.63278	4.558581	0.999696438630859	0.41870	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.31	4.37	0.51830	3.444000	0.52678	2.465000	0.32872	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9287:0.0:0.0713	14.595	0.67993	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.1667	1061.06	35	chr11	108482164	.	C	T	1061.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.77;DP=248;ExcessHet=0.4139;FS=0.744;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.621;SOR=0.777	GT:AD:DP:GQ:PL	0/1:22,25:47:99:626,0,498	4	0	2	0
chr11	108482219	108482219	G	T	exonic	POGLUT3	.	nonsynonymous SNV	POGLUT3:NM_001363503:exon4:c.C688A:p.L230I,POGLUT3:NM_153705:exon4:c.C688A:p.L230I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00260835985045	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279112721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.469	0.08534	T	0.404	0.14818	T	0.008	0.14655	B	0.026	0.20792	B	0.311028	0.14433	N	0.690632	0.999987	0.18198	N	.	.	.	1.98	0.21865	T	-0.53	0.16393	N	0.262	0.29659	-0.9838	0.34116	T	0.025	0.10910	T	10	0.12835342	0.24415	T	0.002608	0.05292	T	0.031	0.07369	0.367	0.37524	0.226586394389	0.22295	0.35989462459512817	0.35903	0.195636061854	0.21915	0.26440730691	0.05427	T	0.002973	0.02370	T	-0.274442	0.11266	T	-0.631993	0.10265	T	0.118982918560505	0.14330	T	0.770923	0.40735	T	0.06131424	0.12681	0.03842408	0.03707	0.06131424	0.12681	0.03842408	0.03706	-4.562	0.31690	T	.	.	0.069	0.03093	B	.;.	.;.	2.379848	0.30549	18.47	0.94164025009157093	0.24372	0.82276	0.41528	D	AEFBI	0.163918	0.29025	N	-0.666981227674585	0.16968	0.8691289	-0.493805723636809	0.22323	1.211949	0.00658832009138818	0.11256	0.744818	0.98587	0	0.653731	0.59785	0	0.658983	0.55881	0	0.76194	0.99817	0	.	.	5.31	0.981	0.18875	2.435000	0.44469	2.861000	0.35203	-0.163000	0.11536	0.977000	0.34929	1.000000	0.68203	0.937000	0.47636	0.0:0.2375:0.5033:0.2592	10.282	0.42726	740	0.53092	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	312.83	35	chr11	108482219	.	G	T	312.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.355;DP=179;ExcessHet=0;FS=6.68;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.568;SOR=0.12	GT:AD:DP:GQ:PL	0/1:15,14:29:99:323,0,466	5	0	1	0
chr11	112028585	112028585	C	T	exonic	DLAT	.	nonsynonymous SNV	DLAT:NM_001372031:exon3:c.C452T:p.A151V,DLAT:NM_001372032:exon3:c.C452T:p.A151V,DLAT:NM_001372033:exon3:c.C452T:p.A151V,DLAT:NM_001372034:exon3:c.C419T:p.A140V,DLAT:NM_001372035:exon3:c.C452T:p.A151V,DLAT:NM_001372036:exon3:c.C326T:p.A109V,DLAT:NM_001372037:exon3:c.C284T:p.A95V,DLAT:NM_001372039:exon3:c.C452T:p.A151V,DLAT:NM_001372041:exon3:c.C452T:p.A151V,DLAT:NM_001931:exon3:c.C452T:p.A151V	Pyruvate dehydrogenase E2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0887931950327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.015	0.61642	D	0.372	0.56013	B	0.312	0.63157	B	0.004742	0.33426	N	0.348460	0.903954	0.81001	D	2.285	0.65182	M	0.37	0.57729	T	-0.87	0.36385	N	0.42	0.50778	-0.3813	0.72611	T	0.312	0.68229	T	10	0.36940417	0.53356	T	0.088793	0.75201	D	0.229	0.52916	0.418	0.45873	0.679913390818	0.67719	0.34472874959310035	0.34385	0.664077401662	0.59052	0.488060832024	0.37170	T	0.160514	0.50439	T	-0.0659416	0.41974	T	-0.332497	0.41190	T	0.957216501235962	0.64953	D	0.965603	0.87267	D	0.1269211	0.29715	0.0925788	0.21825	0.1269211	0.29715	0.0925788	0.21824	-8.675	0.65583	D	.	.	0.142	0.46025	B	.;.	.;.	4.434338	0.68789	25.3	0.99874719420651092	0.95160	0.98419	0.82582	D	AEFDBI	0.838514	0.75603	D	0.321779671850602	0.57267	3.893518	0.342407219782394	0.58053	3.973599	0.999999999885122	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.75	0.59954	7.477000	0.80071	5.977000	0.52101	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.999000	0.91618	0.0:0.9297:0.0:0.0703	14.490	0.67226	594	0.68584	Biotin/lipoyl attachment|Biotin/lipoyl attachment;Biotin/lipoyl attachment|Biotin/lipoyl attachment	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2274.06	34	chr11	112028585	.	C	T	2274.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.192;DP=361;ExcessHet=0.4139;FS=2.324;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.57;SOR=0.535	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1228,0,1598	4	0	2	0
chr11	113412715	113412715	T	C	exonic	DRD2	.	nonsynonymous SNV	DRD2:NM_016574:exon6:c.A892G:p.K298E,DRD2:NM_000795:exon7:c.A979G:p.K327E	.	0	1515	7	0	0	7	0.00230491	.	.	.	241055	Dystonic_disorder|not_provided	Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0025	0.00279553	0.0038	0.0005	0.0005	0	0.0222	0.0039	0.0099	0.0024	0.0034799	538	154602	rs71653614	0.0031	0.0031	0.0030	0.0031	0.0027	0.0030	0.0030	0.0026	0.0026	0.0004	0.0005	0.0004	0	0.0207	0.0007	0.0027	0.0028	0.0023	0.0036	0.0035	0.0029	0.0043	0.0039	0.0033	0.0032	0.0035	0.0034	0.0007	0	0.0004	0.0006	0.0002	0.0205	0.0034	0.0039	0.0033	0.0025	0.312	0.29158	T	0.713	0.09795	T	0.007	0.18235	B	0.011	0.21540	B	0.000000	0.84330	D	0.081650	0.999997	0.58761	D	1.445	0.36358	L	-0.67	0.72458	T	-0.57	0.24898	N	0.487	0.53181	-0.8557	0.51570	T	0.165	0.50209	T	10	0.006436944	0.00146	T	.	.	.	0.212	0.50341	.	.	0.83841986829	0.83687	0.4838085822904552	0.48300	1.27943491311	0.82487	0.639596939087	0.58507	T	0.109656	0.42371	T	-0.260005	0.12899	T	-0.140988	0.60032	T	0.0501452647467594	0.05525	T	0.856214	0.56597	D	0.29855898	0.52775	0.374772	0.62636	0.29855898	0.52775	0.374772	0.62635	-4.51	0.35396	T	.	.	0.132	0.36732	B	.;.;.;.;.	.;.;.;.;.	3.459078	0.48208	22.6	0.99723632802450846	0.82266	0.98484	0.83265	D	AEFBI	0.942577	0.94733	D	-0.00477627300684651	0.41639	2.494186	0.231205104956738	0.51588	3.339955	0.999999998100973	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	8.017000	0.88732	7.876000	0.72232	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.450	0.83825	860	0.33753	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	0	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.1667	3185.06	34	chr11	113412715	.	T	C	3185.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.73;DP=371;ExcessHet=0.4139;FS=13.769;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.146;SOR=1.433	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1647,0,1641	4	0	2	0
chr11	113412766	113412766	G	A	exonic	DRD2	.	nonsynonymous SNV	DRD2:NM_016574:exon6:c.C841T:p.P281S,DRD2:NM_000795:exon7:c.C928T:p.P310S	.	1	1487	30	4	0	38	0.0126162	.	.	.	253994	DRD2-associated_Dystonia|not_specified|Dystonic_disorder|not_provided	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.0120403957927	0.0006	0.000798722	0.0014	0	0.0010	0	0	0.0021	0	0.0010	0.001216	188	154602	rs1800496	0.0011	0.0011	0.0010	0.0011	0.0274	0.0010	0.0010	0.0239	0.0226	0.0008	0.0011	0.0168	0	7.489e-05	0.0274	0.0006	0.0024	0.0012	0.0012	0.0012	0.0012	0.0011	0.0012	0.0010	0.0010	0.0010	0.0009	9.627e-05	0	0.0011	0.0150	0	0	0.0308	0.0012	0.0038	0.0010	0.446	0.09236	T	0.87	0.12072	T	0.0	0.02946	B	0.001	0.06944	B	0.007316	0.31472	N	0.382752	0.856594	0.28418	N	1.18	0.29980	L	-0.52	0.70950	T	-0.3	0.11913	N	0.095	0.07535	-0.9782	0.35413	T	0.131	0.44228	T	10	0.003302753	0.00057	T	0.01204	0.30251	T	0.053	0.14996	.	.	0.635011714626	0.63201	0.2832165131889466	0.28234	0.819110548624	0.67075	0.288126349449	0.08650	T	0.080947	0.36483	T	-0.399698	0.02326	T	-0.392466	0.34263	T	0.00755147470409422	0.00087	T	0.427357	0.25136	T	0.031609956	0.03031	0.044623986	0.05823	0.031609956	0.03031	0.044623986	0.05823	-3.059	0.10831	T	.	.	0.064	0.02145	B	.;.;.;.;.	.;.;.;.;.	1.639653	0.20925	14.97	0.87683899775081209	0.17406	0.93619	0.58715	D	AEFDBI	0.380806	0.46331	N	-0.740278025076547	0.14899	0.7461527	-0.597916278238898	0.19546	1.049245	0.11352656309492	0.16710	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.73	1.56	0.22423	0.409000	0.20803	4.908000	0.45924	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.896000	0.43308	0.0684:0.4643:0.3579:0.1094	7.779	0.28218	860	0.33753	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	0.021652	0.005051	0.027174	0.061404	0.000000	0.025862	0.003049	0.003788	0.08333	2074.83	45	chr11	113412766	.	G	A	2074.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=326;ExcessHet=0;FS=2.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=0.543;SOR=0.689	GT:AD:DP:GQ:PL	0/1:48,66:114:99:2085,0,1424	5	0	1	0
chr11	113932386	113932386	A	C	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon4:c.A433C:p.S145R,HTR3B:NM_006028:exon5:c.A466C:p.S156R	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0250066252546	0.0055	0.00179712	0.0041	0.0005	0.0034	0.0001	0.0018	0.0058	0.0033	0.0032	0.0040814	631	154602	rs72466469	0.0049	0.0049	0.0048	0.0050	0.0068	0.0048	0.0048	0.0052	0.0052	0.0007	0.0038	0.0143	0.0001	0.0013	0.0068	0.0053	0.0055	0.0031	0.0040	0.0040	0.0044	0.0036	0.0063	0.0038	0.0037	0.0058	0.0056	0.0009	0	0.0041	0.0121	0	0.0013	0	0.0063	0.0061	0.0035	0.004	0.65419	D	0.084	0.41742	T	0.934	0.58077	P	0.643	0.61279	P	0.012047	0.29308	N	0.421195	0.527966	0.31951	D	1.595	0.40691	L	-1.28	0.79376	T	-2.34	0.51811	N	0.387	0.42834	-0.2710	0.75785	T	0.383	0.73943	T	10	0.01663372	0.00351	T	0.025007	0.47992	D	0.264	0.57741	0.21	0.12781	0.757769487402	0.75556	0.42280760931178624	0.42197	0.25041078572	0.27610	0.319523781538	0.13349	T	0.152105	0.49235	T	-0.315207	0.07298	T	-0.223215	0.52425	T	0.0488645287089559	0.05299	T	0.809719	0.47040	T	0.3483172	0.56935	0.29076025	0.55100	0.3483172	0.56936	0.29076025	0.55099	-3.717	0.19569	T	.	.	0.150	0.33086	B	.;.	.;.	1.647686	0.21022	15.02	0.99737840350303608	0.83264	0.36996	0.25661	N	AEFBI	0.232044	0.35518	N	-0.317441561955011	0.28486	1.57156	-0.43329920996704	0.24026	1.313442	7.90171590104167E-4	0.07810	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.82	0.729	0.17416	1.081000	0.30402	1.366000	0.25918	-0.208000	0.08445	0.291000	0.25242	0.078000	0.22336	0.445000	0.27784	0.6577:0.0:0.2158:0.1265	4.941	0.13316	864	0.32732	Neurotransmitter-gated ion-channel ligand-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	0.008560	0.000000	0.013587	0.002924	0.000000	0.008621	0.015244	0.003788	0.1667	2265.06	36	chr11	113932386	.	A	C	2265.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.174;DP=357;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.876;SOR=0.732	GT:AD:DP:GQ:PL	0/1:50,41:91:99:1076,0,1444	4	0	2	0
chr11	114571227	114571227	C	T	exonic	NXPE4	.	nonsynonymous SNV	NXPE4:NM_001077639:exon6:c.G1346A:p.R449Q,NXPE4:NM_017678:exon6:c.G494A:p.R165Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00827556891443	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018607965	5.473e-06	5.472e-06	2.723e-06	8.251e-06	2.988e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.988e-05	0	0	2.519e-05	0	0	4.497e-06	0	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-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	0.03	0.45393	D	0.119	0.40267	T	0.995	0.67487	D	0.73	0.55268	P	0.002761	0.36001	N	0.114147	0.742329	0.29722	N	2.225	0.63025	M	1.74	0.26301	T	-3.27	0.65512	D	0.142	0.15328	-0.9690	0.37407	T	0.090	0.34518	T	10	0.27441728	0.44995	T	0.008276	0.21928	T	0.131	0.35738	0.593	0.72247	0.0716867268079	0.06686	0.33502939688955846	0.33415	0.0913205535873	0.10314	0.22347971797	0.01520	T	0.097845	0.40107	T	-0.22149	0.17791	T	-0.555931	0.16761	T	0.977362215518951	0.71809	D	0.845015	0.54241	T	0.17207219	0.37878	0.13648082	0.32649	0.17207219	0.37878	0.13648082	0.32648	-6.691	0.55746	T	.	.	0.080	0.11558	B	.;.	.;.	2.647511	0.34467	19.63	0.99932698502033535	0.99439	0.11653	0.16775	N	AEFBI	0.067987	0.13391	N	-0.0016559543925265	0.41781	2.505259	-0.110253571194246	0.34975	2.018072	1.77264381391972E-6	0.01202	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	0.373	0.15410	0.060000	0.14220	-0.423000	0.09272	0.599000	0.40250	0.056000	0.21631	0.000000	0.08366	0.998000	0.85391	0.0:0.637:0.0:0.363	9.592	0.38719	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	.	.	.	.	.	.	.	.	0.08333	1671.83	33	chr11	114571227	.	C	T	1671.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=422;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.902;SOR=0.593	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1682,0,1610	5	0	1	0
chr11	116873495	116873495	C	T	exonic	SIK3	.	nonsynonymous SNV	SIK3:NM_001281749:exon12:c.G1579A:p.V527I,SIK3:NM_001366686:exon13:c.G1723A:p.V575I,SIK3:NM_025164:exon13:c.G1723A:p.V575I,SIK3:NM_001281748:exon14:c.G1246A:p.V416I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0208737108328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.50676	D	0.251	0.23638	T	.	.	.	.	.	.	0.002137	0.37183	U	0.000000	1	0.81001	D	.	.	.	-0.59	0.71543	T	-0.56	0.17003	N	0.605	0.62696	-0.1566	0.78754	T	0.466	0.79389	T	10	0.52754855	0.62996	D	0.020874	0.43546	T	0.236	0.53931	.	.	0.483636461449	0.47994	0.19405906281004623	0.19323	.	.	0.718300104141	0.69799	T	.	.	.	-0.0194792	0.48927	T	-0.265757	0.48248	T	0.765236657019517	0.44156	D	0.937706	0.77081	D	0.058621045	0.11815	0.06616715	0.13517	0.058621045	0.11814	0.06616715	0.13516	-3.396	0.19274	T	.	.	0.232	0.46516	B	.;.	.;.	4.843301	0.79091	27.0	0.99898895181073477	0.97124	0.99608	0.97942	D	AEFDBIJ	0.834348	0.75241	D	0.725464003348847	0.81301	7.490365	0.752031520102046	0.86308	8.847939	0.999999999999998	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	7.246000	0.77688	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.893	0.96936	487	0.76954	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1180.06	35	chr11	116873495	.	C	T	1180.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.022;DP=249;ExcessHet=0.4139;FS=3.631;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.464;SOR=1.055	GT:AD:DP:GQ:PL	0/1:24,24:48:99:618,0,602	4	0	2	0
chr11	121145567	121145567	C	T	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon12:c.C3556T:p.R1186W,TBCEL-TECTA:NM_001378761:exon18:c.C4513T:p.R1505W	.	0	1520	1	1	0	3	0.000985869	.	.	.	318882	Autosomal_dominant_nonsyndromic_hearing_loss_12|TECTA-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_21	MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|.|MedGen:C3661900|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.352	0.0857344375054	0.0003	0.00179712	0.0009	0	0.0002	0.0005	0	7.492e-05	0	0.0058	0.0007827	121	154602	rs148098950	0.0005	0.0005	0.0004	0.0007	0.0057	0.0005	0.0005	0.0053	0.0051	8.961e-05	0.0002	0	0.0002	0	0.0010	0.0002	0.0006	0.0057	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0047	0.0040	0.0001	0	0.0007	0	0.0006	0	0	0.0001	0	0.0064	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	0.999746	0.48716	D	1.585	0.39878	L	0.18	0.60361	T	-2.46	0.53736	N	0.871	0.86833	-0.4790	0.69403	T	0.314	0.68424	T	10	0.0098540485	0.00221	T	0.085734	0.74592	D	0.352	0.67326	.	.	0.847631421277	0.84616	0.7341693214237388	0.73361	1.05113681247	0.76148	0.732054233551	0.71807	T	0.297435	0.67003	T	-0.0749782	0.40528	T	0.121857	0.78359	D	0.154764115743218	0.17476	T	0.965803	0.87368	D	0.43300048	0.62948	0.43418798	0.66947	0.46722206	0.65120	0.48998272	0.70493	-6.788	0.52470	T	0.2611662731153489	0.35261	0.712	0.78526	P	.;.;.	.;.;.	4.606355	0.72999	25.9	0.99918054428031255	0.98518	0.94445	0.61189	D	AEFDGBI	0.692640	0.65224	D	0.508790843477593	0.67608	5.104366	0.486460838566011	0.67094	5.037986	0.992833245878254	0.32986	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.87	4.95	0.64894	4.074000	0.57297	2.657000	0.33854	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.885000	0.42453	0.2643:0.7357:0.0:0.0	14.691	0.68694	768	0.49510	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1941.06	34	chr11	121145567	.	C	T	1941.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.4;DP=334;ExcessHet=0.4139;FS=10.467;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.43;SOR=1.363	GT:AD:DP:GQ:PL	0/1:55,34:89:99:916,0,1529	4	0	2	0
chr11	124016028	124016028	T	C	exonic	OR10G4	.	nonsynonymous SNV	OR10G4:NM_001004462:exon1:c.T454C:p.S152P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00213611560206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18122	T	0.214	0.26386	T	0.93	0.51791	P	0.826	0.59373	P	0.009044	0.30540	N	0.153091	1	0.08975	N	2.115	0.58683	M	8.71	0.00105	T	-2.4	0.52776	N	0.391	0.43223	-0.9712	0.36946	T	0.001	0.00348	T	10	0.31800085	0.49204	T	0.002136	0.03962	T	0.146	0.38789	0.671	0.80903	0.356690202451	0.35275	0.5664517962978667	0.56573	1.4447974456	0.86034	0.303079456091	0.10862	T	0.015766	0.13159	T	-0.175055	0.24476	T	-0.489231	0.23473	T	0.729989051818848	0.42209	D	0.790321	0.43084	T	0.81992656	0.85214	0.77696985	0.86843	0.81992656	0.85216	0.77696985	0.86844	-9.487	0.70778	D	.	.	0.560	0.69045	A	.;.;.	.;.;.	2.149906	0.27382	17.44	0.98690069572946659	0.44752	0.03964	0.09371	N	AEFGI	0.090500	0.18338	N	-0.476650375471921	0.22848	1.222843	-0.746594454364417	0.15805	0.8331071	2.41199109085581E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.33	-3.33	0.04649	0.108000	0.15232	-12.201000	0.00543	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.896000	0.43308	0.0:0.0857:0.5157:0.3985	8.485	0.32223	808	0.43318	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	.	.	.	.	.	.	.	.	0.08333	7164.83	34	chr11	124016028	.	T	C	7164.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.975;DP=1679;ExcessHet=0;FS=4.094;MLEAC=1;MLEAF=0.083;MQ=54.42;MQRankSum=1.24;QD=14.39;ReadPosRankSum=1.92;SOR=0.997	GT:AD:DP:GQ:PL	0/1:238,260:498:99:7175,0,6772	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	868.06	130	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	868.06	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.51;DP=434;ExcessHet=0.6695;FS=70.836;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.55;ReadPosRankSum=-2.554;SOR=3.812	GT:AD:DP:GQ:PL	0/1:180,31:211:99:690,0,7435	2	0	2	2
chr11	124310747	124310747	G	T	exonic	OR8D1	.	nonsynonymous SNV	OR8D1:NM_001002917:exon1:c.C20A:p.S7Y	.	0	225	1	0	0	1	0.00221729	.	.	.	2809972	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.156	.	0.0032	0.00239617	0.0051	0.0012	0.0010	0.0001	0.0146	0.0068	0.0034	0.0016	0.0046701	722	154602	rs138336307	0.0051	0.0051	0.0052	0.0050	0.0055	0.0050	0.0050	0.0054	0.0054	0.0007	0.0012	0.0001	5.051e-05	0.0151	0.0026	0.0055	0.0045	0.0018	0.0036	0.0036	0.0034	0.0038	0.0050	0.0033	0.0032	0.0045	0.0044	0.0009	0	0.0009	0	0	0.0127	0.0034	0.0050	0.0038	0.0025	0.005	0.63226	D	0.0	0.92824	D	0.994	0.66517	D	0.949	0.68658	D	0.002408	0.36612	U	0.000000	1	0.08975	N	2.8	0.81625	M	0.57	0.54347	T	-4.8	0.80682	D	0.252	0.28498	-0.6657	0.62023	T	0.280	0.65170	T	10	0.004672587	0.00098	T	.	.	.	0.156	0.40720	.	.	0.706755276554	0.70420	0.19012550452594687	0.18930	0.174898917413	0.19690	0.307069569826	0.11463	T	0.032777	0.22635	T	-0.374278	0.03383	T	-0.305976	0.44091	T	0.0591280296414971	0.07031	T	0.272873	0.04620	T	0.20797701	0.43020	0.24547438	0.50036	0.20797701	0.43019	0.24547438	0.50035	-8.688	0.65667	D	.	.	0.255	0.48958	B	.;.;.	.;.;.	2.375908	0.30495	18.45	0.98819855230770837	0.46769	0.13737	0.18024	N	AEFBHCI	0.062492	0.12017	N	0.0617164674475527	0.44684	2.737914	-0.204796844717841	0.31362	1.774263	0.0231309669669615	0.13484	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.687789	0.68303	1	.	.	4.42	3.51	0.39297	0.637000	0.24348	.	.	0.648000	0.52827	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1:0.0:0.9:0.0	9.451	0.37889	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	0	0	1	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.1667	1428.06	38	chr11	124310747	.	G	T	1428.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.246;DP=239;ExcessHet=0.4139;FS=3.647;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.086;SOR=1.263	GT:AD:DP:GQ:PL	0/1:19,24:43:99:763,0,579	4	0	2	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	.	.	.	.	.	.	.	.	0.25	457.03	76	chr12	4591261	.	G	C	457.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.555;DP=428;ExcessHet=1.383;FS=328.029;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=0.671;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,31:76:99:0|1:4591261_G_C:270,0,661:4591261	3	0	3	0
chr12	10125341	10125341	G	T	exonic	CLEC7A	.	nonsynonymous SNV	CLEC7A:NM_197950:exon2:c.C211A:p.Q71K,CLEC7A:NM_022570:exon3:c.C310A:p.Q104K,CLEC7A:NM_197949:exon3:c.C310A:p.Q104K,CLEC7A:NM_197947:exon4:c.C448A:p.Q150K,CLEC7A:NM_197948:exon4:c.C448A:p.Q150K	Candidiasis, familial, 4, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00429355101762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219601495	6.843e-06	7.525e-06	5.447e-06	8.253e-06	0.0002	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0.0002	7.195e-06	1.656e-05	0	6.576e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.42199	D	0.15	0.50809	T	0.936	0.65571	P	0.81	0.64047	P	0.048939	0.23207	N	0.313183	0.934859	0.27788	N	1.53	0.38800	L	2.41	0.16640	T	-1.61	0.40468	N	0.328	0.40963	-1.1864	0.00284	T	0.070	0.28478	T	10	0.3556102	0.52318	T	0.004294	0.10404	T	0.120	0.33359	0.437	0.48993	0.596150557166	0.59293	0.3631063465657643	0.36224	0.0512428658498	0.05640	0.290709525347	0.09026	T	0.062342	0.31891	T	-0.221768	0.17753	T	-0.556331	0.16722	T	0.429087966680527	0.30027	T	0.865913	0.56597	D	0.31728613	0.54409	0.2062852	0.44835	0.31728613	0.54409	0.2062852	0.44834	-3.364	0.14576	T	.	.	0.090	0.18828	B	.;.;.;.;.	.;.;.;.;.	1.761290	0.22403	15.61	0.9836513810381613	0.40689	0.16350	0.19348	N	AEFDIJ	0.292124	0.40308	N	0.0872591396215003	0.45869	2.836336	0.0061090511578461	0.39997	2.380162	0.999917519429966	0.45857	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.68	4.68	0.58319	1.846000	0.38929	4.224000	0.42611	0.676000	0.76740	0.009000	0.18154	0.992000	0.31684	0.005000	0.06747	0.0:0.0:1.0:0.0	13.409	0.60376	889	0.27310	.;.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1237.83	38	chr12	10125341	.	G	T	1237.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.496;DP=333;ExcessHet=0;FS=2.337;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.784;SOR=0.966	GT:AD:DP:GQ:PL	0/1:80,53:133:99:1248,0,2068	5	0	1	0
chr12	13090602	13090602	C	T	exonic	GSG1	.	nonsynonymous SNV	GSG1:NM_001080554:exon2:c.G265A:p.V89M,GSG1:NM_001080555:exon2:c.G265A:p.V89M,GSG1:NM_001206842:exon2:c.G265A:p.V89M,GSG1:NM_001206843:exon2:c.G226A:p.V76M,GSG1:NM_001206845:exon2:c.G226A:p.V76M,GSG1:NM_001367358:exon2:c.G265A:p.V89M,GSG1:NM_001367359:exon2:c.G265A:p.V89M,GSG1:NM_001367360:exon2:c.G265A:p.V89M,GSG1:NM_001367361:exon2:c.G265A:p.V89M,GSG1:NM_001367362:exon2:c.G265A:p.V89M,GSG1:NM_001367363:exon2:c.G265A:p.V89M,GSG1:NM_001367364:exon2:c.G265A:p.V89M,GSG1:NM_001368007:exon2:c.G226A:p.V76M,GSG1:NM_031289:exon2:c.G226A:p.V76M,GSG1:NM_153823:exon2:c.G226A:p.V76M	.	436	1071	13	2	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0206664809255	0.0012	0.00119808	0.0018	9.614e-05	0.0004	0	0	0.0022	0.0022	0.0040	0.0016494	255	154602	rs144983335	0.0013	0.0013	0.0011	0.0014	0.0066	0.0012	0.0012	0.0049	0.0044	0.0001	0.0008	0.0099	2.519e-05	9.36e-05	0.0066	0.0010	0.0016	0.0040	0.0011	0.0011	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0109	0.0002	0.0002	0.0068	0.0010	0.0033	0.0048	0.032	0.50132	D	0.006	0.72224	D	0.82	0.64070	P	0.446	0.57829	B	0.000569	0.43250	D	0.101500	0.966761	0.25879	N	2.31	0.66127	M	1.49	0.31470	T	-1.6	0.43334	N	0.233	0.45709	-0.8987	0.48125	T	0.153	0.48343	T	10	0.009343088	0.00211	T	0.020666	0.43310	T	0.102	0.29158	.	.	0.211220785272	0.20719	0.1817743636384318	0.18096	0.229546519496	0.25508	0.377721041441	0.21933	T	.	.	.	-0.403335	0.02201	T	-0.353612	0.38790	T	0.0944165238397986	0.11731	T	0.834417	0.50622	T	.	.	.	.	.	.	.	.	-5.467	0.47010	T	.	.	0.097	0.47116	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.849589	0.37622	20.5	0.99754537399279275	0.84537	0.88277	0.48132	D	AEFBI	0.523014	0.54679	D	0.301132813179315	0.56206	3.785084	0.312670558490132	0.56283	3.791481	0.999910397921076	0.45857	0.428477	0.06694	0	0.491513	0.07743	0	0.468601	0.07175	0	0.613276	0.41899	0	.	.	5.55	4.64	0.57399	1.164000	0.31420	3.312000	0.37472	0.599000	0.40250	0.935000	0.32453	1.000000	0.68203	0.997000	0.79791	0.1317:0.7987:0.0:0.0695	10.748	0.45391	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	0.004532	0.000000	0.005435	0.002924	0.050000	0.000000	0.009146	0.003788	0.08333	1181.83	35	chr12	13090602	.	C	T	1181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.48;DP=280;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.522;SOR=0.597	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1192,0,1544	5	0	1	0
chr12	21765733	21765733	G	A	exonic	KCNJ8	.	nonsynonymous SNV	KCNJ8:NM_004982:exon3:c.C1265T:p.S422L	.	0	1515	7	0	0	7	0.00230491	.	.	.	167406	not_specified|KCNJ8-related_disorder|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided|Brugada_syndrome	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.187	0.0194152558076	0.0015	0.000199681	0.0016	9.615e-05	0.0010	0.0001	0	0.0025	0.0033	0.0010	0.0014618	226	154602	rs72554071	0.0011	0.0011	0.0010	0.0011	0.0045	0.0010	0.0010	0.0032	0.0027	0.0002	0.0007	0.0310	0	7.488e-05	0.0045	0.0004	0.0028	0.0009	0.0012	0.0012	0.0013	0.0011	0.0006	0.0011	0.0010	0.0005	0.0004	0.0001	0.0011	0.0005	0.0328	0	9.432e-05	0.0034	0.0006	0.0028	0.0006	0.21	0.19639	T	0.247	0.23914	T	0.013	0.16609	B	0.004	0.10090	B	0.243235	0.15666	N	0.650929	1	0.08975	N	0.345	0.11182	N	-1.12	0.77593	T	-0.62	0.18248	N	0.104	0.08786	-0.9524	0.40555	T	0.199	0.55499	T	10	0.0040097833	0.00077	T	0.019415	0.41777	T	0.187	0.46274	.	.	0.425148423609	0.42132	0.6132004647008038	0.61252	0.932174325602	0.71871	0.362425088882	0.19739	T	0.264	0.63551	T	-0.364457	0.03884	T	-0.356891	0.38413	T	0.0120851045618877	0.00192	T	0.684232	0.29249	T	0.068914935	0.15055	0.08378752	0.19227	0.07222775	0.16049	0.07127815	0.15244	-3.866	0.21794	T	.	.	.	.	.	.	.	2.304429	0.29492	18.14	0.93033629694933062	0.22635	0.44658	0.27366	N	AEFBI	0.602448	0.59431	D	-0.670389501032449	0.16868	0.8632347	-0.556396499684281	0.20637	1.112709	0.00978492626089505	0.11913	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	4.45	0.53365	2.485000	0.44909	5.319000	0.48286	0.654000	0.53741	0.077000	0.22263	0.978000	0.30204	0.917000	0.45243	0.1593:0.0:0.8407:0.0	9.499	0.38171	746	0.52331	.	.	.	.	.	.	Likely benign	0	0	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	0.003027	0.005102	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	3798.83	33	chr12	21765733	.	G	A	3798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=500;ExcessHet=0;FS=7.25;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.237;SOR=0.42	GT:AD:DP:GQ:PL	0/1:171,148:319:99:3809,0,4311	5	0	1	0
chr12	25035741	25035741	A	G	exonic	LOC645177	.	nonsynonymous SNV	LOC645177:NM_001321724:exon15:c.A1805G:p.E602G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988196150	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11016247	0.20578	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13032	B	.	.	1.045967	0.14271	10.85	0.60694291284428947	0.06525	0.02623	0.07209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0146702453269927	0.12623	0.078448	0.01964	0	0.097471	0.02872	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0554192	0.12871	4.41	3.21	0.35933	0.564000	0.23265	0.355000	0.17517	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.7981:0.0:0.0:0.2019	7.038	0.24184	882	0.29131	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1118.83	34	chr12	25035741	.	A	G	1118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=247;ExcessHet=0;FS=4.605;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.777;SOR=1.029	GT:AD:DP:GQ:PL	0/1:30,44:74:99:1129,0,723	5	0	1	0
chr12	27297731	27297731	C	T	exonic	STK38L	.	nonsynonymous SNV	STK38L:NM_015000:exon2:c.C11T:p.T4M	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0200581951477	.	.	1.649e-05	0	0	0	0	2.999e-05	0	0	3.84e-05	1	26028	rs769405820	6.16e-06	7.524e-06	5.448e-06	6.879e-06	5.978e-05	2.9e-06	2.1e-06	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	5.398e-06	0	1.161e-05	2.63e-05	2.628e-05	3.856e-05	1.346e-05	6.549e-05	8.15e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	6.549e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.004	0.79402	D	0.65	0.40644	P	0.075	0.28327	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.075	0.27130	L	0.91	0.44856	T	-1.16	0.36787	N	0.504	0.53620	-1.0194	0.23910	T	0.070	0.28642	T	10	0.24432775	0.41662	T	0.020058	0.42574	T	0.206	0.49396	0.141	0.04462	0.276254252017	0.27237	0.6803634936155969	0.67975	1.01917520793	0.75045	0.656677603722	0.60934	T	0.028812	0.20786	T	0.0132526	0.53467	T	-0.203254	0.54337	T	0.703793346881866	0.40900	D	0.812919	0.47089	T	0.27404058	0.50471	0.22644989	0.47622	0.27404058	0.50471	0.22644989	0.47621	-4.271	0.27768	T	.	.	0.145	0.40570	B	.;.;.;.;.;.	.;.;.;.;.;.	4.131709	0.61838	24.4	0.99907708549180407	0.97801	0.99652	0.98359	D	AEFDGBIJ	0.883140	0.81181	D	0.257254776824368	0.53998	3.566641	0.401536695101505	0.61662	4.369331	0.99999999999969	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.0	0.00009	3	.	.	5.18	5.18	0.71140	7.517000	0.80687	4.907000	0.45915	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.083	0.93175	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	.	.	.	.	.	.	.	.	0.08333	562.83	38	chr12	27297731	.	C	T	562.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.5;DP=235;ExcessHet=0;FS=4.094;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.543;SOR=1.456	GT:AD:DP:GQ:PL	0/1:39,21:60:99:573,0,944	5	0	1	0
chr12	31103905	31103905	G	A	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon27:c.G2785A:p.V929M,DDX11:NM_152438:exon27:c.G2785A:p.V929M	Warsaw breakage syndrome, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	1196097	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.163	0.00748483736346	.	0.000599042	0.0007	9.835e-05	8.75e-05	0	0	0.0004	0	0.0037	0.0006015	93	154602	rs563857266	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0036	0.0035	5.975e-05	0.0002	0.0018	2.519e-05	0	0.0019	0.0002	0.0005	0.0040	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	9.622e-05	0	0.0001	0.0014	0	0	0.0034	0.0002	0.0009	0.0031	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.78	0.73631	T	-0.01	0.07155	N	0.036	0.01068	-1.0410	0.17011	T	0.140	0.45997	T	9	0.0043744743	0.00089	T	0.007485	0.19846	T	0.163	0.42028	.	.	0.146414634003	0.14194	0.08912661703273703	0.08845	.	.	0.280788213015	0.07602	T	0.041273	0.25804	T	-0.532648	0.00371	T	-0.53817	0.18476	T	0.011753953541351	0.00181	T	0.346065	0.07604	T	0.12034441	0.28321	0.1082753	0.26080	0.15108362	0.34363	0.08874401	0.20711	-5.077	0.37664	T	.	.	0.191	0.41047	B	.	.	-0.129462	0.03469	0.645	0.68285945622942401	0.08611	0.01298	0.04511	N	ALL	0.032709	0.03744	N	-1.95776623687186	0.00260	0.01116694	-2.05078849641703	0.00238	0.01049825	0.999999033922941	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	1.38	-2.76	0.05547	-2.220000	0.01300	-5.410000	0.01729	-2.628000	0.00228	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3866:0.1846:0.2024:0.2264	0.221	0.00157	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	1	0	0	1	0	1	0	0.001138	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1512.83	79	chr12	31103905	.	G	A	1512.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.813;DP=378;ExcessHet=0;FS=2.558;MLEAC=1;MLEAF=0.083;MQ=57.53;MQRankSum=-0.495;QD=13.88;ReadPosRankSum=-0.773;SOR=0.441	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1523,0,1096	5	0	1	0
chr12	31984932	31984932	A	T	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A3977T:p.H1326L	.	431	1090	1	0	0	1	0.000458505	.	.	.	2681775	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00263896373661	7.7e-05	.	4.956e-05	0	0	0	0	7.515e-05	0	6.064e-05	3.88e-05	6	154602	rs368576980	1.643e-05	1.642e-05	1.77e-05	1.514e-05	0.0005	1.111e-05	9.34e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	1.709e-05	1.656e-05	1.164e-05	3.285e-05	3.283e-05	3.853e-05	2.689e-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	1.0	0.00964	T	0.704	0.05642	T	0.001	0.07471	B	0.002	0.06944	B	0.502957	0.05103	N	1.288820	1	0.08975	N	0.625	0.15840	N	2.8	0.11082	T	-2.62	0.56301	D	0.056	0.02759	-0.9558	0.39952	T	0.011	0.04088	T	9	0.03362876	0.01544	T	0.002639	0.05377	T	0.010	0.01040	.	.	0.0806252709748	0.07271	0.10932828391730737	0.10861	0.00861022644597	0.00783	0.231563150883	0.02086	T	0.003442	0.02849	T	-0.480095	0.00738	T	-0.741496	0.03828	T	0.0364698539137878	0.03063	T	0.260974	0.04194	T	0.07494326	0.16853	0.05638653	0.10067	0.07494326	0.16853	0.05638653	0.10066	-2.48	0.05646	T	.	.	0.095	0.14888	B	.	.	-0.365220	0.02346	0.254	0.19290560363183287	0.00644	0.03253	0.08281	N	AEFBCI	0.027429	0.02239	N	-1.37473362959474	0.02876	0.127656	-1.39154854106964	0.03341	0.1556655	0.9317095776166	0.27059	0.67177	0.52595	0	0.606735	0.50208	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	5.21	-3.75	0.04087	0.179000	0.16653	-0.331000	0.09890	-0.041000	0.17446	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3288:0.2737:0.0853:0.3122	1.314	0.01976	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	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1700.83	68	chr12	31984932	.	A	T	1700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=371;ExcessHet=0;FS=7.7;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.181;SOR=0.802	GT:AD:DP:GQ:PL	0/1:45,60:105:99:1711,0,1149	5	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	582.61	32	chr12	39764776	.	G	C	582.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.452;DP=279;ExcessHet=6.1542;FS=487.012;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.852;SOR=9.49	GT:AD:DP:GQ:PL	0/1:25,18:43:99:120,0,435	1	0	5	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	3610.71	725	chr12	40482890	.	T	*	3610.71	.	AC=5;AF=0.625;AN=8;BaseQRankSum=-0.907;DP=5463;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.75;MQ=58.02;MQRankSum=-21.32;QD=1.08;ReadPosRankSum=2.88;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:20,937:957:99:.:.:30613,2254,0:.	1	2	1	2
chr12	40483937	40483937	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	549	967	5	0	1	6	0.00257865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113645766486	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1322352843	1.513e-05	0.0001	1.022e-05	2.085e-05	0.0001	8.12e-06	5.93e-06	2.447e-05	9.77e-06	0	0	0	0	0	0	1.354e-05	0	0.0001	0.0001	0.0020	0.0001	0.0001	0.0007	7.809e-05	6.269e-05	0.0001	6.151e-05	9.677e-05	0	0	0.0004	0	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.125	1470.68	566	chr12	40483937	.	A	T	1470.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.402;DP=3604;ExcessHet=0;FS=9.497;MLEAC=1;MLEAF=0.125;MQ=59.13;MQRankSum=-17.26;QD=2.18;ReadPosRankSum=-9.884;SOR=1.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:596,78:674:99:0|1:40483937_A_T:1479,0,24335:40483937	3	0	1	2
chr12	40483949	40483949	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	555	963	2	1	1	5	0.00207254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214288909938	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1448414589	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	7.699e-05	0	0	0	0	0	0.0003	0.0002	0.0002	0.0004	0.0028	0.0005	0.0004	0.0011	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0004	0.0005	0.0009	0	0.0076	0.0006	0.0008	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	2006.68	566	chr12	40483949	.	T	C	2006.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.9;DP=3632;ExcessHet=0;FS=6.993;MLEAC=1;MLEAF=0.125;MQ=59.09;MQRankSum=-15.78;QD=2.84;ReadPosRankSum=-7.591;SOR=1.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:614,92:706:99:0|1:40483937_A_T:2015,0,25389:40483937	3	0	1	2
chr12	40483953	40483953	-	CTG	exonic	MUC19	.	unknown	UNKNOWN	.	551	967	3	0	1	4	0.00154879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217565650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	6.448e-05	0.0002	0.0004	9.17e-05	7.722e-05	9.084e-05	7.039e-05	0.0001	0	6.558e-05	0	0.0002	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2364.79	566	chr12	40483953	.	A	ACTG	2364.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.69;DP=3631;ExcessHet=0;FS=6.424;MLEAC=1;MLEAF=0.083;MQ=59.09;MQRankSum=-15.01;QD=3.35;ReadPosRankSum=-7.214;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:606,100:706:99:0|1:40483937_A_T:2375,0,25055:40483937	5	0	1	0
chr12	40483955	40483955	-	AGCTGAAGTGACAGGGACAACTAGACT	exonic	MUC19	.	unknown	UNKNOWN	.	558	957	5	0	2	7	0.00260552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0017	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0	0.0003	0	0	0.0003	0.0007	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3167.64	566	chr12	40483955	.	C	CAGCTGAAGTGACAGGGACAACTAGACT	3167.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.97;DP=3648;ExcessHet=0;FS=7.547;MLEAC=1;MLEAF=0.125;MQ=59.07;MQRankSum=-13.99;QD=4.43;ReadPosRankSum=-7.699;SOR=1.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:596,119:715:99:0|1:40483937_A_T:3176,0,24582:40483937	3	0	1	2
chr12	40484339	40484339	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122365396896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.846e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5797.69	566	chr12	40484339	.	C	G	5797.69	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.015;DP=5086;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=55.25;MQRankSum=-5.483;QD=4.27;ReadPosRankSum=-0.599;SOR=0.653	GT:AD:DP:GQ:PL	0/1:1051,306:1358:99:5807,0,31219	4	0	1	1
chr12	40485585	40485854	AGACAACTGGACCATCAGCTGGGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCTATCAGCTGTGGTGACAGGGATAACTGGACTATCAGCTGAGGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGGGATAACTGGACTATCAGCTGAGGTGACAA	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.529e-05	1.576e-05	3.133e-05	1.825e-05	6.351e-05	1.625e-05	1.379e-05	1.6e-05	1.289e-05	6.351e-05	0	0	0	0	0	2.502e-05	0	6.095e-05	6.582e-06	6.57e-06	1.287e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7332.79	586	chr12	40485584	.	GAGACAACTGGACCATCAGCTGGGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCTATCAGCTGTGGTGACAGGGATAACTGGACTATCAGCTGAGGTGACAGGGACAACTGGACTATCAGCTGGGGTGACAGGGATAACTGGACTATCAGCTGAGGTGACAA	G	7332.79	.	AC=1;AF=0.083;AN=12;DP=3601;ExcessHet=0;FS=3.772;MLEAC=1;MLEAF=0.083;MQ=59.09;MQRankSum=-0.286;QD=8.93;SOR=0.866	GT:AD:DP:GQ:PL	0/1:554,267:821:99:7343,0,21907	5	0	1	0
chr12	40485585	40485585	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	63403.5	750	chr12	40485585	.	A	*	63403.5	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.623;DP=3839;ExcessHet=0.7136;FS=1.142;MLEAC=1;MLEAF=0.1;MQ=59.15;MQRankSum=-0.105;QD=19.13;ReadPosRankSum=-0.154;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:554,267:821:99:.:.:7343,0,21907:.	4	0	1	1
chr12	40485606	40485696	GGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGA	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7823.01	679	chr12	40485606	.	GGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGA	*	7823.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=3456;ExcessHet=0.4139;FS=2.485;MLEAC=1;MLEAF=0.083;MQ=54.38;MQRankSum=7.43;QD=7.15;ReadPosRankSum=7.85;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:554,267:821:99:.:.:7343,0,21907:.	5	0	1	0
chr12	40485607	40485637	GGTGACAGGGACAGGTAGACTATCAGCTGAA	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485607	.	GGTGACAGGGACAGGTAGACTATCAGCTGAA	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3445;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=54.23;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:554,267:821:99:.:.:7343,0,21907:.	4	0	2	0
chr12	40485654	40485657	GCCC	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485654	.	GCCC	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3385;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.98;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:554,267:821:99:.:.:7343,0,21907:.	4	0	2	0
chr12	40485660	40485747	CAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485660	.	CAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3365;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.94;MQRankSum=1.84;QD=0.31;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:554,267:821:99:.:.:7343,0,21907:.	4	0	2	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6371.03	740	chr12	40486404	.	T	TATCA	6371.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.67;DP=4248;ExcessHet=0.4139;FS=59.339;MLEAC=2;MLEAF=0.167;MQ=57.2;MQRankSum=-24.1;QD=4.47;ReadPosRankSum=-6.812;SOR=6.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:692,91:783:99:0|1:40486404_T_TATCA:1731,0,27618:40486404	4	0	2	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6045.18	749	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	6045.18	.	AC=2;AF=0.25;AN=8;BaseQRankSum=8.4;DP=4276;ExcessHet=0.4139;FS=44.818;MLEAC=2;MLEAF=0.25;MQ=57.15;MQRankSum=-21.31;QD=4.56;ReadPosRankSum=-6.734;SOR=5.464	GT:AD:DP:GQ:PL	0/1:696,43:739:99:1913,0,28232	2	0	2	2
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4965.01	732	chr12	40486506	.	A	*	4965.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.78;DP=5361;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.14;QD=1.05;ReadPosRankSum=-1.393;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:487,352:839:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13394,0,19282:40486484	1	0	5	0
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4962.01	732	chr12	40486507	.	G	*	4962.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=5.4;DP=5358;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.16;QD=1.05;ReadPosRankSum=-1.443;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:487,352:839:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13394,0,19282:40486484	1	0	5	0
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4473.01	732	chr12	40486514	.	G	*	4473.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.1;DP=5372;ExcessHet=11.5949;FS=17.567;MLEAC=5;MLEAF=0.417;MQ=58.43;MQRankSum=-13.92;QD=0.95;ReadPosRankSum=-3.436;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:487,352:839:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13394,0,19282:40486484	1	0	5	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	14265.8	784	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	14265.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.854;DP=5239;ExcessHet=11.5949;FS=9.249;MLEAC=5;MLEAF=0.417;MQ=56.7;MQRankSum=-17.81;QD=3.6;ReadPosRankSum=6.38;SOR=2.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:754,19:776:99:.:.:3463,0,31234:.	1	0	5	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	12638.8	777	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12638.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.656;DP=5154;ExcessHet=11.5949;FS=11.854;MLEAC=5;MLEAF=0.417;MQ=56.84;MQRankSum=-22.75;QD=2.71;ReadPosRankSum=-2.795;SOR=2.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:734,19:756:99:.:.:3353,0,29976:.	1	0	5	0
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	107.83	160	chr12	40511000	.	A	G	107.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.47;DP=708;ExcessHet=0;FS=39.946;MLEAC=1;MLEAF=0.083;MQ=58.99;MQRankSum=-14.09;QD=0.54;ReadPosRankSum=-4.309;SOR=5.369	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,16:200:99:0|1:40510979_A_G:118,0,7678:40510979	5	0	1	0
chr12	49030304	49030304	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon43:c.C13975T:p.R4659W	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	995233	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.288	0.349753338637	.	0.000199681	5e-05	0	0	0.0002	0	0	0	0.0002	2.59e-05	4	154602	rs558561472	1.516e-05	1.573e-05	1.095e-05	1.943e-05	0.0001	9.93e-06	8.48e-06	4.946e-05	3.191e-05	2.999e-05	0	0	0.0001	0	0	1.446e-05	0	0	1.315e-05	1.313e-05	2.572e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.002	0.72154	D	.	.	.	0.978	0.58756	D	0.328	0.42011	B	0.545140	0.11495	N	0.712469	0.998578	0.22064	N	1.5	0.37844	L	-1.64	0.82533	D	-3.15	0.64132	D	0.307	0.34659	-0.7163	0.59644	T	0.308	0.67822	T	10	0.12035215	0.22794	T	0.349753	0.92237	D	0.288	0.60691	0.218	0.13932	0.36413608308	0.36018	0.13057394669557557	0.12982	0.15301633933	0.17264	0.33336353302	0.15442	T	0.216712	0.57896	T	-0.17094	0.25092	T	-0.257618	0.49063	T	0.40893092751503	0.29278	T	0.861714	0.55578	D	0.13003787	0.30354	0.2121448	0.45671	0.13003787	0.30354	0.2121448	0.45670	-5.621	0.42984	T	.	.	0.101	0.17573	B	.	.	3.225588	0.43964	21.8	0.97034509500761268	0.32084	0.88877	0.49021	D	AEFGBCI	0.253970	0.37337	N	0.0115953410347507	0.42383	2.552551	0.0873464406718693	0.43909	2.683141	0.0633056771283325	0.15291	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.58	3.68	0.41359	1.467000	0.34930	6.223000	0.55146	0.676000	0.76740	0.922000	0.32020	1.000000	0.68203	0.993000	0.69303	0.0:0.2944:0.7056:0.0	13.730	0.62260	415	0.81806	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	4165.06	33	chr12	49030304	.	G	A	4165.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.249;DP=463;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.901;SOR=0.711	GT:AD:DP:GQ:PL	0/1:76,76:152:99:1838,0,1791	4	0	2	0
chr12	53196758	53196758	G	T	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon6:c.C637A:p.R213S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0825578291581	0.0004	0.000599042	0.0006	0	0.0012	0	0	0.0008	0.0011	0	0.0006015	93	154602	rs11574537	0.0006	0.0006	0.0006	0.0006	0.0054	0.0005	0.0005	0.0039	0.0034	0.0004	0.0016	0.0091	0	0	0.0054	0.0003	0.0017	3.48e-05	0.0008	0.0008	0.0008	0.0008	0.0022	0.0007	0.0007	0.0016	0.0014	0.0002	0	0.0022	0.0104	0	0	0.0170	0.0006	0.0028	0	0.011	0.55530	D	0.197	0.27855	T	0.221	0.30336	B	0.107	0.31211	B	0.267061	0.15201	N	0.491750	1	0.08975	N	1.465	0.36909	L	-3.02	0.92258	D	-2.02	0.46503	N	0.44	0.49965	-0.2706	0.75795	T	0.559	0.83919	D	10	0.0107575655	0.00238	T	0.082558	0.73927	D	0.338	0.66010	.	.	0.883221294441	0.88207	0.5358905244624111	0.53514	0.565344544128	0.52876	0.361900389194	0.19662	T	0.605	0.87387	D	-0.225307	0.17273	T	-0.131792	0.60821	T	0.0129271835238952	0.00223	T	0.819518	0.63671	T	0.43884242	0.63328	0.22037275	0.46810	0.43884242	0.63328	0.22037275	0.46809	-6.585	0.50938	T	.	.	0.151	0.38658	B	.;.;.	.;.;.	3.489234	0.48758	22.7	0.99037735821458062	0.50939	0.17479	0.19855	N	AEFBCI	0.202013	0.32864	N	-0.321542058664074	0.28331	1.561775	-0.250838444849185	0.29742	1.66884	0.998527127172996	0.37129	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.05	4.15	0.47978	0.455000	0.21555	6.637000	0.56171	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.986000	0.61781	0.0:0.1485:0.6978:0.1538	10.113	0.41745	744	0.52588	Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.020202	0.009511	0.011696	0.000000	0.008621	0.003049	0.000000	0.1667	3206.06	35	chr12	53196758	.	G	T	3206.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.37;DP=430;ExcessHet=0.4139;FS=6.482;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.976;SOR=0.87	GT:AD:DP:GQ:PL	0/1:79,72:151:99:1880,0,1813	4	0	2	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	428.48	78	chr12	54363394	.	G	A	428.48	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.22;DP=463;ExcessHet=1.383;FS=284.876;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.03;SOR=8.739	GT:AD:DP:GQ:PL	0/1:70,19:89:41:41,0,1671	3	0	3	0
chr12	55681815	55681815	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C61T:p.L21F	.	431	1064	25	2	0	29	0.0134446	.	.	.	702406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0042	0.000998403	0.0073	0.0010	0.0042	0	0.0012	0.0136	0.0150	0.0034	0.0027037	418	154602	rs199581976	0.0036	0.0036	0.0035	0.0037	0.0193	0.0035	0.0035	0.0164	0.0153	0.0011	0.0027	0.0266	0	0.0007	0.0193	0.0033	0.0054	0.0027	0.0034	0.0034	0.0036	0.0032	0.0041	0.0032	0.0031	0.0037	0.0036	0.0008	0.0088	0.0031	0.0282	0	0.0006	0.0204	0.0041	0.0109	0.0029	0.005	0.63226	D	0.025	0.60337	D	0.008	0.14655	B	0.012	0.16012	B	0.033067	0.24945	U	0.331836	0.99201	0.41532	D	2.94	0.84723	M	1.8	0.25344	T	-2.9	0.60827	D	0.4	0.44090	-1.0594	0.11905	T	0.046	0.19680	T	10	0.0033551455	0.00058	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.8861837634931694	0.88587	0.0410168488921	0.04401	0.481642216444	0.36283	T	0.035111	0.24699	T	-0.575825	0.00204	T	-0.598818	0.12910	T	0.0420220997220355	0.04059	T	0.50025	0.15636	T	0.24753305	0.47732	0.29166937	0.55192	0.24753305	0.47732	0.29166937	0.55191	-5.103	0.37939	T	.	.	0.104	0.24733	B	.;.	.;.	2.197060	0.28021	17.66	0.99204784752352737	0.55381	0.48273	0.28170	N	ALL	0.875120	0.79836	D	-0.54545360957274	0.20627	1.08873	-0.562489992760993	0.20475	1.103277	0.999999999986705	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	4.75	2.93	0.33092	-0.894000	0.04230	.	.	0.549000	0.26987	0.000000	0.06391	0.759000	0.26609	0.674000	0.33367	0.1728:0.5688:0.1673:0.0911	3.582	0.07507	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	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	0.019467	0.025253	0.017956	0.017857	0.000000	0.054545	0.015528	0.007692	0.25	3570.0	40	chr12	55681815	.	C	T	3570.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.59;DP=308;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=-0.181;SOR=0.703	GT:AD:DP:GQ:PL	0/1:40,35:75:99:1017,0,1124	4	1	1	0
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.25	3352.0	41	chr12	55693209	.	C	T	3352.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.84;DP=299;ExcessHet=0;FS=0.766;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.8;ReadPosRankSum=0.632;SOR=0.667	GT:AD:DP:GQ:PL	0/1:29,40:69:99:1036,0,629	4	1	1	0
chr12	57037948	57037948	G	C	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon18:c.C1882G:p.R628G,MYO1A:NM_001256041:exon19:c.C1882G:p.R628G	.	0	1515	7	0	0	7	0.00230491	.	.	.	175740	not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_48|MYO1A-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0011920,MedGen:C1842939,OMIM:607841,Orphanet:90635|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.820	0.352150848041	0.0015	.	0.0016	0	0.0004	0	0.0008	0.0025	0.0033	0.0008	0.001423	220	154602	rs151187460	0.0011	0.0011	0.0010	0.0012	0.0040	0.0011	0.0011	0.0027	0.0023	8.961e-05	0.0004	0.0253	0	0.0010	0.0040	0.0006	0.0019	0.0010	0.0012	0.0012	0.0012	0.0012	0.0012	0.0011	0.0010	0.0007	0.0006	4.811e-05	0	0.0005	0.0294	0	0.0008	0.0102	0.0008	0.0014	0.0012	0.001	0.78490	D	0.001	0.83351	D	0.822	0.45767	P	0.747	0.55931	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.075	0.97183	H	-3.07	0.92508	D	-6.86	0.93135	D	0.919	0.97535	1.005	0.97266	D	0.894	0.96485	D	10	0.06275889	0.08074	T	0.352151	0.92296	D	0.820	0.94238	.	.	0.968785866751	0.96844	0.8094398816263911	0.80898	0.516495157487	0.49535	0.521145105362	0.41787	T	0.856968	0.96794	D	0.169695	0.71095	D	0.420538	0.92759	D	0.178237352329982	0.19124	T	0.960204	0.84976	D	0.87879914	0.89568	0.7941477	0.87904	0.87879914	0.89569	0.7941477	0.87904	-11.708	0.83400	D	.	.	0.905	0.83772	P	.;.	.;.	4.744086	0.76536	26.5	0.99901694956992149	0.97350	0.97418	0.74624	D	AEFBI	0.862756	0.78112	D	0.786777251917161	0.85272	8.526654	0.705533799339281	0.82798	7.857393	0.999977444310092	0.50053	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	4.049000	0.57110	7.633000	0.62825	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:0.8169:0.183	11.227	0.48118	174	0.93268	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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2656.06	36	chr12	57037948	.	G	C	2656.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.93;DP=362;ExcessHet=0.4139;FS=3.141;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.414;SOR=0.92	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1288,0,1483	4	0	2	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1333.71	38	chr12	70329450	.	T	C	1333.71	.	AC=2;AF=0.5;AN=4;BaseQRankSum=0.098;DP=364;ExcessHet=0.4139;FS=336.318;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=0.274;SOR=7.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,40:100:99:0|1:70329448_G_A:1177,0,2241:70329448	0	0	2	4
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1330.99	38	chr12	70329451	.	G	A	1330.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.725;DP=379;ExcessHet=0.4139;FS=336.318;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=0.501;SOR=7.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,40:100:99:0|1:70329448_G_A:1177,0,2241:70329448	1	0	2	3
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V,PAWR:NM_001354733:exon3:c.A577G:p.I193V,PAWR:NM_002583:exon3:c.A577G:p.I193V	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.000000	0.006793	0.008772	0.000000	0.008621	0.006098	0.026515	0.1667	1816.06	36	chr12	79621147	.	T	C	1816.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.265;DP=321;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.062;SOR=0.679	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1164,0,1442	4	0	2	0
chr12	88060951	88060951	A	G	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon47:c.T6401C:p.I2134T	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	386	1115	18	3	0	24	0.0106477	.	.	.	177274	Intellectual_disability|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|not_specified|Leber_congenital_amaurosis|not_provided|Joubert_syndrome_5|Meckel_syndrome,_type_4|Meckel-Gruber_syndrome|Nephronophthisis|Joubert_syndrome	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MedGen:CN169374|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	.	0.0055	0.00579073	0.0147	0.0019	0.0014	0	0.0011	0.0191	0.0069	0.0195	0.0053816	832	154602	rs117852025	0.0075	0.0075	0.0072	0.0078	0.0163	0.0074	0.0074	0.0155	0.0152	0.0012	0.0024	0.0363	5.289e-05	0.0011	0.0163	0.0070	0.0100	0.0163	0.0053	0.0053	0.0054	0.0051	0.0137	0.0050	0.0049	0.0110	0.0101	0.0015	0	0.0018	0.0478	0.0008	0.0009	0.0102	0.0066	0.0062	0.0137	0.003	0.68238	D	0.019	0.59159	D	0.999	0.77913	D	0.964	0.71005	D	0.000003	0.62929	D	0.101317	0.99994	0.51968	D	1.975	0.53506	M	-0.9	0.74896	T	-1.88	0.43906	N	0.834	0.95021	-0.0647	0.80894	T	0.483	0.80270	T	10	0.009030223	0.00204	T	.	.	.	0.406	0.71869	.	.	0.875205848546	0.87398	0.34686869949352617	0.34600	0.378355118775	0.39249	0.710693120956	0.68693	T	0.476381	0.80704	T	-0.0341945	0.46804	T	0.189782	0.82556	D	0.0166690938146821	0.00426	T	0.847515	0.52873	T	0.16860478	0.37327	0.25384763	0.51040	0.19353971	0.41067	0.26356167	0.52163	-8.001	0.61077	D	0.7348488337888284	0.81667	0.347	0.56403	A	.;.;.	.;.;.	4.609159	0.73081	25.9	0.99875343345217849	0.95244	0.98733	0.86156	D	AEFBI	0.884967	0.81510	D	0.806607080363494	0.86520	8.911169	0.806839436661137	0.90263	10.32915	0.999996654593781	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	8.349000	0.89970	11.229000	0.90032	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.558	0.84362	876	0.30350	.;.;.	.	.	.	.	.	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	0.015152	0.000000	0.009511	0.005882	0.050000	0.000000	0.036810	0.022727	0.08333	991.83	22	chr12	88060951	.	A	G	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.979;DP=259;ExcessHet=0;FS=0.88;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.347;SOR=0.527	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1002,0,832	5	0	1	0
chr12	101345664	101345664	G	A	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon37:c.G4716A:p.M1572I	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0021	0.00459265	0.0074	0.0007	0.0579	0	0.0039	0.0023	0.0100	0.0020	0.0067852	1049	154602	rs144785642	0.0038	0.0039	0.0041	0.0035	0.0458	0.0037	0.0037	0.0441	0.0434	0.0008	0.0458	0	2.525e-05	0.0044	0.0012	0.0027	0.0034	0.0016	0.0038	0.0038	0.0036	0.0040	0.0198	0.0035	0.0034	0.0179	0.0172	0.0009	0	0.0198	0	0.0004	0.0037	0	0.0027	0.0028	0.0015	0.203	0.20154	T	0.182	0.29249	T	0.731	0.42679	P	0.116	0.31939	B	0.000000	0.84330	D	0.087062	0.986594	0.40456	D	1.85	0.49092	L	2.32	0.16640	T	-0.62	0.18248	N	0.402	0.44283	-1.1120	0.02903	T	0.009	0.03403	T	10	0.0067596436	0.00153	T	.	.	.	0.101	0.28911	0.429	0.47680	0.313210971179	0.30940	0.27399943588334424	0.27312	0.197629072986	0.22136	0.378657341003	0.22066	T	0.009386	0.08551	T	-0.48284	0.00712	T	-0.429099	0.30037	T	0.0115471454193722	0.00174	T	0.913409	0.69158	D	0.2553387	0.48567	0.18284982	0.41237	0.2553387	0.48567	0.18284982	0.41236	-2.12	0.03671	T	.	.	0.568	0.67568	P	.	.	2.830195	0.37313	20.5	0.9827852508492223	0.39833	0.94658	0.61888	D	AEFGBI	0.274215	0.38945	N	0.164363330676233	0.49494	3.149155	0.270862674998777	0.53846	3.551589	0.724505652118829	0.22971	0.732398	0.92422	0	0.71359	0.82159	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.06	5.17	0.70848	1.935000	0.39802	7.440000	0.58865	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0671:0.0:0.9329:0.0	15.237	0.73134	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.000000	0.009146	0.000000	0.08333	785.83	35	chr12	101345664	.	G	A	785.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.388;DP=262;ExcessHet=0;FS=1.756;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.956;SOR=0.686	GT:AD:DP:GQ:PL	0/1:54,36:90:99:796,0,1360	5	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*42	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	77.79	76	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	77.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=422;ExcessHet=0;FS=1.2;MLEAC=1;MLEAF=0.083;MQ=58.58;MQRankSum=-8.627;QD=0.76;ReadPosRankSum=-2.56;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:88:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:88,0,3869:103984920	5	0	1	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	78.66	38	chr12	103984922	.	T	TTAAGGA	78.66	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.99;DP=433;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.36;MQRankSum=-9.402;QD=0.77;ReadPosRankSum=-2.491;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:88:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:88,0,3868:103984920	4	0	1	1
chr12	105149736	105149736	A	G	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon25:c.A2639G:p.Q880R,WASHC4:NM_015275:exon25:c.A2636G:p.Q879R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.010796529327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.444	0.13177	T	0.144	0.27697	B	0.082	0.29098	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.94	0.43672	T	-1.6	0.38540	N	0.617	0.67908	-1.0114	0.26478	T	0.112	0.40006	T	10	0.43354934	0.57647	T	0.010797	0.27747	T	0.247	0.55478	0.362	0.36711	0.468504517574	0.46476	0.7643528262417968	0.76383	0.380374659178	0.39407	0.636296749115	0.58038	T	0.007906	0.20890	T	0.0227449	0.54753	T	-0.205105	0.54163	T	0.894473135471344	0.54587	D	0.891611	0.62654	D	0.33398953	0.55795	0.2746048	0.53390	0.33398953	0.55795	0.2746048	0.53389	-7.436	0.57158	T	0.3604586751250251	0.45695	0.096	0.19518	B	.;.	.;.	3.520857	0.49350	22.8	0.99559595113000032	0.71707	0.98892	0.88252	D	AEFGBI	0.911389	0.87060	D	0.220978640405951	0.52217	3.397229	0.382399936640429	0.60481	4.236045	0.999999998960038	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.645665	0.59343	0	.	.	5.52	5.52	0.82153	9.325000	0.96006	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.224	0.65390	649	0.63102	WASH complex subunit 7, central domain;WASH complex subunit 7, central 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	.	.	.	.	.	.	.	.	0.08333	752.83	33	chr12	105149736	.	A	G	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.517;DP=263;ExcessHet=0;FS=2.797;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=1.39;SOR=0.645	GT:AD:DP:GQ:PL	0/1:51,38:89:99:763,0,1176	5	0	1	0
chr12	108519092	108519092	C	G	exonic	FICD	.	nonsynonymous SNV	FICD:NM_007076:exon3:c.C994G:p.Q332E	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00132950667831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.932	0.02239	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.004541	0.33648	N	0.372188	0.999598	0.81001	D	-1.005	0.01165	N	.	.	.	0.35	0.03761	N	0.074	0.04790	-0.9627	0.38664	T	0.056	0.23413	T	9	0.02797553	0.00935	T	0.00133	0.01885	T	0.065	0.18881	0.387	0.40788	0.355658859761	0.35178	0.5015983488860183	0.50081	0.274362340275	0.29928	0.291806340218	0.09185	T	0.018246	0.14740	T	-0.269077	0.11859	T	-0.624287	0.10851	T	0.0630517024196776	0.07640	T	0.856914	0.54589	D	0.24597305	0.47561	0.20052485	0.43987	0.24597305	0.47561	0.20052485	0.43986	-4.904	0.35780	T	.	.	0.059	0.00780	B	.	.	0.475019	0.08445	5.203	0.62298910650473416	0.06927	0.71002	0.34827	D	AEFDBCI	0.079625	0.16086	N	-1.06687024630479	0.07261	0.3367398	-0.876254718590257	0.12657	0.652393	0.999761688811034	0.42728	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.96	0.547	0.16392	-0.138000	0.10353	0.767000	0.21364	0.599000	0.40250	0.602000	0.27764	0.999000	0.35428	1.000000	0.97212	0.0:0.4548:0.4832:0.062	16.345	0.82959	888	0.27761	Fido domain|Fido 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	.	.	.	.	.	.	.	.	0.08333	1893.83	38	chr12	108519092	.	C	G	1893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.843;DP=322;ExcessHet=0;FS=2.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.7;SOR=0.504	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1904,0,2331	5	0	1	0
chr12	113208019	113208019	T	C	exonic	IQCD	.	nonsynonymous SNV	IQCD:NM_001330452:exon2:c.A148G:p.K50E,IQCD:NM_138451:exon2:c.A148G:p.K50E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00577300164586	.	.	3.295e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs755868572	1.984e-05	1.984e-05	5.445e-06	3.438e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.251	0.39340	T	0.997	0.70673	D	0.932	0.66722	D	0.001405	0.39109	N	0.217286	0.778233	0.34234	D	.	.	.	3.05	0.08721	T	-1.85	0.43334	N	0.32	0.36043	-1.0585	0.12134	T	0.038	0.16246	T	10	0.2026082	0.36386	T	0.005773	0.14982	T	0.071	0.20720	0.383	0.40134	0.294918367191	0.29099	0.36443508613905995	0.36357	0.585960603407	0.54216	0.531466782093	0.43242	T	0.016934	0.15622	T	-0.285608	0.10081	T	-0.351841	0.38993	T	0.172529801726341	0.18751	T	0.717128	0.34274	T	0.18082148	0.39223	0.18168567	0.41047	0.18082148	0.39222	0.18168567	0.41046	-6.713	0.59423	T	.	.	0.325	0.54868	B	.;.;.	.;.;.	3.502821	0.49019	22.7	0.99464564667029642	0.65996	0.56842	0.30221	D	AEFGBHCIJ	0.186489	0.31380	N	0.225548524842894	0.52440	3.418139	0.257178546561566	0.53058	3.476818	0.999999999789162	0.74766	0.615465	0.37627	0	0.218748	0.04544	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.58	4.58	0.56077	1.028000	0.29734	4.176000	0.42305	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1795:0.8205	9.402	0.37605	747	0.52260	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2077.83	36	chr12	113208019	.	T	C	2077.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.887;DP=328;ExcessHet=0;FS=1.27;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.03;SOR=0.824	GT:AD:DP:GQ:PL	0/1:71,83:154:99:2088,0,1872	5	0	1	0
chr12	122206469	122206469	A	G	exonic	B3GNT4	.	nonsynonymous SNV	B3GNT4:NM_001330492:exon2:c.A143G:p.H48R,B3GNT4:NM_030765:exon3:c.A218G:p.H73R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0046664946748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.03996	T	0.453	0.12848	T	0.0	0.02946	B	0.0	0.01387	B	0.597896	0.05629	N	1.313780	1	0.08975	N	0.075	0.08292	N	1.49	0.34841	T	0.02	0.09796	N	0.046	0.01825	-0.9894	0.32753	T	0.025	0.10821	T	10	0.051377803	0.05011	T	0.004666	0.11566	T	0.012	0.01476	0.205	0.12076	0.119812018005	0.11559	0.29726791214289333	0.29639	0.0108487799371	0.01009	0.305981040001	0.11300	T	0.012902	0.11259	T	-0.251682	0.13894	T	-0.5993	0.12870	T	0.0806349176234419	0.10068	T	0.463154	0.13467	T	0.03532943	0.04138	0.05621737	0.10003	0.03532943	0.04138	0.05621737	0.10002	-2.995	0.10127	T	.	.	0.057	0.00563	B	.;.;.	.;.;.	-1.460061	0.00320	0.005	0.45597679192332163	0.03591	0.11186	0.16466	N	AEFDGBHCI	0.071493	0.14234	N	-1.72763394382455	0.00748	0.03231208	-1.73821404112846	0.00978	0.04383207	0.999992931303211	0.74766	0.205752	0.04085	2	0.514364	0.08380	0	0.459711	0.06710	0	0.645665	0.59343	0	.	.	5.0	-6.34	0.01808	-2.300000	0.01219	-3.528000	0.02719	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3554:0.3317:0.313:0.0	7.836	0.28533	754	0.51307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2458.83	37	chr12	122206469	.	A	G	2458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.114;DP=365;ExcessHet=0;FS=2.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.91;SOR=0.536	GT:AD:DP:GQ:PL	0/1:88,97:185:99:2469,0,2314	5	0	1	0
chr12	122473634	122473634	T	C	exonic	ZCCHC8	.	nonsynonymous SNV	ZCCHC8:NM_001350935:exon11:c.A1756G:p.M586V,ZCCHC8:NM_001350938:exon11:c.A1273G:p.M425V,ZCCHC8:NM_001350937:exon12:c.A1273G:p.M425V,ZCCHC8:NM_001350936:exon13:c.A1690G:p.M564V,ZCCHC8:NM_017612:exon14:c.A1987G:p.M663V	.	0	1506	16	0	0	16	0.00528402	.	.	.	713395	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.169	.	0.0075	0.00359425	0.0085	0.0007	0.0021	0	0.0089	0.0123	0.0100	0.0065	0.0084216	1302	154602	rs139379402	0.0097	0.0097	0.0097	0.0096	0.0111	0.0096	0.0095	0.0110	0.0109	0.0016	0.0034	0.0022	0	0.0085	0.0055	0.0111	0.0072	0.0068	0.0070	0.0070	0.0076	0.0064	0.0115	0.0067	0.0065	0.0109	0.0106	0.0013	0	0.0075	0.0017	0	0.0061	0	0.0115	0.0052	0.0073	0.193	0.20912	T	0.464	0.12456	T	0.993	0.65571	D	0.621	0.51426	P	0.000000	0.84330	D	0.039904	0.929302	0.39844	D	1.935	0.51832	L	0.86	0.46777	T	-1.57	0.37955	N	0.559	0.58373	-0.8644	0.50944	T	0.115	0.40695	T	10	0.008665562	0.00196	T	.	.	.	0.169	0.43123	.	.	0.371383927776	0.36753	0.32673906889023335	0.32586	.	.	0.421713083982	0.28073	T	0.02314	0.17715	T	-0.414323	0.01861	T	-0.356891	0.38413	T	0.0194582856685798	0.00650	T	0.760024	0.38453	T	0.59290934	0.72308	0.5955058	0.76517	0.59290934	0.72309	0.5955058	0.76517	-2.462	0.05527	T	.	.	0.162	0.35684	B	.;.;.	.;.;.	2.936153	0.39022	20.9	0.9923800534272369	0.56437	0.94130	0.60203	D	AEFBCI	0.515748	0.54257	D	0.290945771969442	0.55688	3.732958	0.346381743936911	0.58291	3.998724	0.999552630850052	0.40362	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	2.897000	0.48363	3.479000	0.38635	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	15.926	0.79402	754	0.51307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.011696	0.000000	0.000000	0.006098	0.003788	0.08333	1384.83	38	chr12	122473634	.	T	C	1384.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.543;DP=314;ExcessHet=0;FS=3.226;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.603;SOR=0.625	GT:AD:DP:GQ:PL	0/1:65,61:126:99:1395,0,1649	5	0	1	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V,SBNO1:NM_018183:exon24:c.A3175G:p.M1059V	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016633	0.005102	0.014946	0.017544	0.000000	0.000000	0.027439	0.030303	0.08333	650.83	48	chr12	123313662	.	T	C	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.3;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=2.17;SOR=0.659	GT:AD:DP:GQ:PL	0/1:35,27:62:99:661,0,922	5	0	1	0
chr13	21155744	21155744	C	A	exonic	SKA3	.	nonsynonymous SNV	SKA3:NM_145061:exon8:c.G1187T:p.R396M	.	424	1074	24	0	0	24	0.0110497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00655732284586	0.0025	0.000998403	0.0032	0.0002	0.0024	0	0.0006	0.0040	0.0011	0.0048	0.0028395	439	154602	rs142890023	0.0026	0.0027	0.0025	0.0028	0.0078	0.0026	0.0025	0.0060	0.0054	0.0004	0.0030	0.0257	0	0.0003	0.0078	0.0021	0.0039	0.0042	0.0027	0.0027	0.0026	0.0028	0.0065	0.0025	0.0024	0.0055	0.0051	0.0004	0	0.0065	0.0283	0	0.0002	0	0.0026	0.0029	0.0021	0.115	0.28520	T	0.114	0.36765	T	0.699	0.41837	P	0.149	0.34106	B	0.002066	0.00855	N	3.612860	1	0.08975	N	1.1	0.28011	L	1.93	0.22881	T	0.05	0.06369	N	0.266	0.30118	-1.0233	0.22638	T	0.022	0.09330	T	10	0.0023711026	0.00035	T	0.006557	0.17301	T	0.044	0.11924	.	.	0.0611884634855	0.05136	0.1217849557672996	0.12105	0.26630172821	0.29171	0.234472036362	0.02315	T	0.002509	0.01904	T	-0.574407	0.00208	T	-0.59871	0.12919	T	0.0205916437736956	0.00759	T	0.257374	0.04056	T	0.04667294	0.07851	0.018296078	0.00051	0.04667294	0.07850	0.018296078	0.00051	-3.985	0.23578	T	.	.	0.102	0.18206	B	.	.	0.787864	0.11583	8.173	0.87692296343027942	0.17412	0.00902	0.03533	N	AEFBI	0.038169	0.05362	N	-1.07229275287915	0.07157	0.331655	-1.21817822696198	0.05618	0.2681761	0.999906649784887	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.05	-7.57	0.01176	-1.136000	0.03334	0.074000	0.14299	0.535000	0.24933	0.000000	0.06391	0.000000	0.08366	0.852000	0.40310	0.2247:0.3987:0.1781:0.1985	1.636	0.02577	630	0.65016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.008152	0.000000	0.000000	0.000000	0.018293	0.003788	0.08333	1061.83	34	chr13	21155744	.	C	A	1061.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.795;DP=246;ExcessHet=0;FS=3.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-1.614;SOR=0.682	GT:AD:DP:GQ:PL	0/1:24,42:66:99:1072,0,552	5	0	1	0
chr13	35171273	35171273	C	T	exonic	NBEA	.	nonsynonymous SNV	NBEA:NM_001379245:exon25:c.C4235T:p.T1412M,NBEA:NM_001385012:exon26:c.C4244T:p.T1415M,NBEA:NM_015678:exon26:c.C4244T:p.T1415M	.	432	1086	4	0	0	4	0.00183824	0.0065	0.058	.	2813833	not_provided|NBEA-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00920038457388	0.0006	0.000399361	0.0008	0.0002	0.0025	0	0	0.0005	0	0.0017	0.0006339	98	154602	rs201205330	0.0006	0.0006	0.0006	0.0006	0.0018	0.0005	0.0005	0.0015	0.0013	6.047e-05	0.0018	3.887e-05	0	0.0001	0.0011	0.0005	0.0006	0.0016	0.0005	0.0005	0.0005	0.0004	0.0019	0.0004	0.0003	0.0010	0.0007	0.0002	0	0.0002	0	0	0	0	0.0007	0	0.0019	0.028	0.46129	D	0.18	0.43913	T	0.089	0.25085	B	0.007	0.16012	B	0.000004	0.62929	D	0.104768	0.988503	0.40776	D	1.04	0.26193	L	0.7	0.51474	T	-1.62	0.42957	N	0.353	0.39457	-1.0081	0.27510	T	0.112	0.40145	T	10	0.011654615	0.00298	T	0.009	0.24177	T	0.049	0.13647	.	.	0.082315109003	0.07666	0.5756835672972415	0.57497	0.286609179392	0.31053	0.768053889275	0.77133	T	0.183	0.53560	T	-0.452513	0.01091	T	-0.430043	0.29930	T	0.0196598496189053	0.00669	T	0.872513	0.71716	D	0.12861371	0.30062	0.1627584	0.37791	0.12861371	0.30062	0.1627584	0.37790	-6.482	0.50147	T	0.10605313297357434	0.08479	0.084	0.09530	B	.;.;.;.	.;.;.;.	4.393026	0.67818	25.1	0.96473609191300369	0.29946	0.95833	0.66349	D	AEFI	0.644391	0.62066	D	0.0121177794040695	0.42405	2.554428	0.19894044697837	0.49790	3.178003	0.563918644401705	0.21436	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.28	5.28	0.74118	2.878000	0.48213	4.889000	0.45745	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.257	0.93938	935	0.14827	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.1667	882.06	31	chr13	35171273	.	C	T	882.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.707;DP=215;ExcessHet=0.4139;FS=16.512;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.73;SOR=0.091	GT:AD:DP:GQ:PL	0/1:17,25:42:99:662,0,468	4	0	2	0
chr13	38878873	38878873	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon23:c.G8902A:p.V2968I	Fraser syndrome, Autosomal recessive	0	1482	38	2	0	42	0.0139721	.	.	.	192950	not_provided|FREM2-related_disorder|Isolated_cryptophthalmia|Fraser_syndrome_2|Fraser_syndrome_1|not_specified	MedGen:C3661900|.|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.056	0.0102558500374	0.0048	0.000998403	0.0040	0.0009	0.0011	0.0001	0.0021	0.0055	0.0077	0.0046	0.0041591	643	154602	rs116099212	0.0061	0.0061	0.0061	0.0060	0.0070	0.0060	0.0059	0.0069	0.0069	0.0007	0.0015	7.653e-05	2.519e-05	0.0033	0.0028	0.0070	0.0049	0.0051	0.0037	0.0038	0.0037	0.0038	0.0067	0.0035	0.0034	0.0062	0.0060	0.0011	0	0.0020	0	0.0002	0.0016	0	0.0067	0.0038	0.0031	0.08	0.33585	T	0.206	0.27056	T	.	.	.	.	.	.	0.002338	0.36766	N	0.264885	0.993144	0.41849	D	.	.	.	-0.42	0.69536	T	-0.41	0.14000	N	0.652	0.66272	-1.0176	0.24495	T	0.117	0.41187	T	10	0.0065407753	0.00148	T	0.010256	0.26588	T	0.056	0.15993	.	.	0.426202426774	0.42236	0.14119275005712914	0.14042	0.0952479098463	0.10753	0.276971101761	0.07074	T	.	.	.	-0.477356	0.00766	T	-0.450503	0.27642	T	0.00287879507293326	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03231	B	.	.	1.329046	0.17341	13.11	0.92925960834785915	0.22489	0.89029	0.49255	D	AEFBI	0.180878	0.30819	N	-0.631734908366904	0.17996	0.9307912	-0.534714442032908	0.21212	1.146487	0.160449643237721	0.17584	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.631631	0.49550	0	.	.	5.84	1.17	0.19998	2.125000	0.41639	1.187000	0.24738	-0.113000	0.14837	1.000000	0.71638	0.912000	0.28152	0.982000	0.59238	0.3239:0.0:0.5553:0.1208	5.795	0.17643	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.011364	0.08333	1160.83	35	chr13	38878873	.	G	A	1160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.258;DP=266;ExcessHet=0;FS=2.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.412;SOR=0.463	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1171,0,1389	5	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	111.06	73	chr13	48459808	.	T	C	111.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.727;DP=395;ExcessHet=0.4139;FS=123.222;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.184;SOR=7.853	GT:AD:DP:GQ:PL	0/1:80,24:104:69:69,0,1522	4	0	2	0
chr13	52135824	52135824	T	A	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon13:c.A1163T:p.K388M,NEK3:NM_002498:exon14:c.A1214T:p.K405M,NEK3:NM_152720:exon14:c.A1214T:p.K405M	.	432	1089	0	1	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0231157293941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000014	0.62929	D	0.149020	0.70393	0.30077	N	2.76	0.80626	M	.	.	.	.	.	.	0.435	0.48504	-0.0643	0.80902	T	0.539	0.82965	D	10	0.52444464	0.62828	D	0.023116	0.46062	T	.	.	.	.	0.391000631824	0.38715	0.552179138133198	0.55143	.	.	0.415255129337	0.27183	T	0.061775	0.31743	T	-0.0010328	0.51512	T	-0.23926	0.50871	T	0.956467071410308	0.64763	D	0.850615	0.56452	D	0.12704182	0.29739	0.10138486	0.24268	0.12704182	0.29739	0.10138486	0.24267	-5.587	0.45435	T	.	.	0.349	0.56514	A	.;.;.;.	.;.;.;.	3.544833	0.49806	22.8	0.99503388059387932	0.68147	0.86873	0.46251	D	AEFBI	0.225509	0.34959	N	0.272349445166862	0.54752	3.640055	0.157560897882457	0.47544	2.983048	0.839878502930899	0.24847	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.21	1.46	0.21769	1.253000	0.32488	2.202000	0.31296	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.0:0.2239:0.0:0.7761	8.712	0.33552	726	0.54788	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	934.83	33	chr13	52135824	.	T	A	934.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.328;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.403;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,40:86:99:945,0,1122	5	0	1	0
chr13	113820925	113820925	G	A	exonic	GAS6	.	nonsynonymous SNV	GAS6:NM_000820:exon15:c.C1976T:p.A659V	.	.	.	.	.	.	.	.	.	.	.	3681039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.00904040253773	.	.	1.698e-05	0	0	0	0	3.116e-05	0	0	1.29e-05	2	154602	rs780966895	1.164e-05	1.3e-05	8.178e-06	1.514e-05	0.0002	7.09e-06	5.8e-06	9.24e-06	4.56e-06	0	2.237e-05	0	0	0	0.0002	6.296e-06	8.287e-05	3.479e-05	3.285e-05	3.283e-05	0	6.724e-05	0.0002	1.261e-05	7.98e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.733	0.03776	T	0.848	0.03527	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.27	0.79277	T	1.26	0.00998	N	0.082	0.05799	-0.9549	0.40114	T	0.153	0.48291	T	9	0.031648546	0.01303	T	0.00904	0.23797	T	0.107	0.30369	.	.	0.293502639404	0.28954	0.1688083700788141	0.16800	0.247271584804	0.27277	0.251349300146	0.03912	T	.	.	.	-0.254101	0.13600	T	-0.51991	0.20304	T	0.0353772975504398	0.02872	T	0.714229	0.32652	T	0.13700305	0.31739	0.05813872	0.10692	0.13700305	0.31739	0.05813872	0.10691	-3.582	0.17596	T	.	.	0.091	0.13127	B	.	.	0.841918	0.12137	8.687	0.93678488462270582	0.23578	0.03037	0.07925	N	ALL	0.137918	0.25905	N	-1.23557258051603	0.04494	0.2029194	-1.22405961662133	0.05525	0.263503	0.999999999987798	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.72	-2.14	0.06725	1.724000	0.37685	0.669000	0.20577	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.107000	0.18608	0.659:0.0:0.1931:0.1479	5.796	0.17648	889	0.27310	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1176.83	36	chr13	113820925	.	G	A	1176.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.737;SOR=0.77	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1187,0,762	5	0	1	0
chr14	18967973	18967973	A	G	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon1:c.A488G:p.D163G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00140141947623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.07140	T	0.678	0.06147	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.38236	T	-1.14	0.29323	N	0.147	0.14905	-0.9637	0.38468	T	0.021	0.09056	T	9	0.060992032	0.07580	T	0.001401	0.02062	T	.	.	0.493	0.58048	0.0138822411134	0.00435	0.07455446641056031	0.07391	.	.	0.702951908112	0.67571	T	0.001657	0.01084	T	-0.261024	0.12779	T	-0.61272	0.11765	T	0.0664081357097046	0.08138	T	0.435556	0.11926	T	0.042447716	0.06440	0.089846745	0.21033	0.042447716	0.06440	0.089846745	0.21033	-9.415	0.70329	D	.	.	0.092	0.13644	B	.	.	0.589247	0.09576	6.352	0.64720985066413428	0.07572	0.01421	0.04793	N	AEFI	0.031153	0.03271	N	-1.38691289955028	0.02759	0.1223219	-1.36622744845366	0.03618	0.1691438	2.15982679078891E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	1.27	0.20595	0.175000	0.16577	.	.	-0.570000	0.04786	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	1.0:0.0:0.0:0.0	4.725	0.12314	.	.	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	.	.	.	.	.	.	.	.	0.1667	1961.08	40	chr14	18967973	.	A	G	1961.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.91;DP=398;ExcessHet=0.4139;FS=3.209;MLEAC=2;MLEAF=0.167;MQ=30.21;MQRankSum=1.63;QD=6.45;ReadPosRankSum=-0.086;SOR=0.465	GT:AD:DP:GQ:PL	0/1:138,52:190:99:1015,0,3695	4	0	2	0
chr14	18985413	18985413	C	G	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon7:c.C1129G:p.Q377E	.	749	761	12	0	0	12	0.00782269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000995831050359	.	.	0.0014	0	0.0031	0.0007	0	0.0008	0.0045	0.0043	3.84e-05	1	26028	rs201133679	0.0017	0.0067	0.0017	0.0017	0.0213	0.0016	0.0016	0.0198	0.0192	0.0004	0.0213	0.0054	0.0013	0.0005	0.0016	0.0011	0.0019	0.0023	0.0011	0.0032	0.0012	0.0009	0.0039	0.0009	0.0008	0.0027	0.0023	0.0005	0	0.0039	0.0017	0.0017	0	0	0.0009	0.0021	0.0008	0.025	0.47320	D	0.146	0.32891	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.79	0.25509	T	-0.68	0.19509	N	0.15	0.15328	-0.9541	0.40256	T	0.032	0.13548	T	9	0.0067068934	0.00152	T	9.96E-4	0.01050	T	.	.	0.268	0.21576	0.0138822411134	0.00435	0.023526008375047404	0.02304	.	.	0.650385797024	0.60041	T	0.001799	0.01223	T	-0.209333	0.19474	T	-0.538469	0.18446	T	0.0223406448157293	0.00947	T	0.608239	0.22965	T	0.08524681	0.19765	0.14990585	0.35376	0.08524681	0.19764	0.14990585	0.35375	-1.958	0.03026	T	.	.	0.067	0.02370	B	.	.	0.270675	0.06484	2.960	0.79974958318614919	0.12987	0.00315	0.01661	N	AEFI	0.021473	0.00960	N	-1.44666217930686	0.02243	0.09884121	-1.55002631544704	0.01976	0.09023787	5.99962833003407E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.18	-2.36	0.06282	-0.376000	0.07522	.	.	0.284000	0.18682	0.051000	0.21449	0.000000	0.08366	0.038000	0.14061	0.0:0.4072:0.5928:0.0	8.085	0.29928	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005383	0.008197	0.005510	0.008850	0.000000	0.008929	0.007353	0.004167	0.1667	192.07	40	chr14	18985413	.	C	G	192.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.804;DP=249;ExcessHet=0.4139;FS=4.301;MLEAC=2;MLEAF=0.167;MQ=34.35;MQRankSum=0.621;QD=1.59;ReadPosRankSum=0.052;SOR=0.27	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,9:81:25:.:.:25,0,2605:.	4	0	2	0
chr14	23103781	23103781	G	T	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon4:c.C497A:p.P166Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2923063	0.46807	T	.	.	.	.	.	.	.	.	.	0.3113500067326587	0.31047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479552	0.15329	T	0.14401741	0.33074	0.32608128	0.58518	0.14401741	0.33074	0.32608128	0.58517	-3.66	0.18729	T	.	.	0.277	0.51068	B	.;.;.	.;.;.	3.791636	0.54583	23.5	0.73780255991438359	0.10452	0.92628	0.56160	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999953275815	0.74766	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.853923	0.52080	5.8	4.91	0.63897	3.205000	0.50792	6.515000	0.55817	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.1659:0.0:0.8341:0.0	8.976	0.35100	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	37.68	1	chr14	23103781	.	G	T	37.68	.	AC=2;AF=0.25;AN=8;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=18.84;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	2
chr14	32600736	32600736	G	A	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon7:c.G2674A:p.E892K	.	424	1065	32	1	0	34	0.0157116	.	.	.	702857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0091	0.00299521	0.0071	0.0012	0.0052	0.0001	0.0015	0.0111	0.0055	0.0018	0.0070698	1093	154602	rs34572259	0.0085	0.0085	0.0085	0.0084	0.0133	0.0084	0.0083	0.0109	0.0100	0.0017	0.0058	0.0191	5.04e-05	0.0016	0.0133	0.0096	0.0097	0.0023	0.0062	0.0062	0.0068	0.0056	0.0099	0.0059	0.0057	0.0093	0.0090	0.0013	0.0011	0.0070	0.0187	0.0002	0.0012	0.0238	0.0099	0.0052	0.0019	0.005	0.63226	D	0.027	0.58089	D	1.0	0.90584	D	0.986	0.76916	D	0.000038	0.55875	D	0.074651	0.577939	0.32350	D	0.695	0.17993	N	3.4	0.19450	T	-0.91	0.29323	N	0.725	0.76203	-0.9896	0.32702	T	0.047	0.20077	T	10	0.009763002	0.00219	T	.	.	.	0.131	0.35738	.	.	0.459974577466	0.45620	0.4104450211692473	0.40960	0.0771311899759	0.08663	0.735888004303	0.72368	T	0.17017	0.51782	T	-0.506004	0.00529	T	-0.490221	0.23368	T	0.0347308637286346	0.02762	T	0.835416	0.51562	T	0.22084916	0.44649	0.22094502	0.46887	0.22084916	0.44649	0.22094502	0.46886	-9.329	0.72742	D	.	.	0.100	0.17232	B	.;.;.	.;.;.	4.541604	0.71388	25.7	0.99883674826507607	0.95892	0.83575	0.42683	D	AEFDBI	0.220216	0.34500	N	0.272256118490707	0.54747	3.639588	0.265175929667817	0.53517	3.520271	0.999994986649258	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	5.18	3.3	0.36912	3.694000	0.54474	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0722:0.1326:0.7952:0.0	10.690	0.45058	607	0.67291	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.016129	0.035354	0.016304	0.005848	0.000000	0.017241	0.021472	0.003788	0.1667	2287.06	33	chr14	32600736	.	G	A	2287.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.777;DP=356;ExcessHet=0.4139;FS=1.051;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.016;SOR=0.601	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1295,0,1572	4	0	2	0
chr14	45175375	45175375	T	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon13:c.T2543C:p.I848T,FANCM:NM_020937:exon14:c.T2621C:p.I874T	.	.	.	.	.	.	.	.	.	.	.	841438	not_provided|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00084438953799	.	.	8.455e-06	0	8.721e-05	0	0	0	0	0	6.5e-06	1	154602	rs774139592	2.271e-05	2.258e-05	1.272e-05	3.279e-05	0.0004	1.643e-05	1.406e-05	6.315e-05	3.62e-05	0	0	0	0	0	0.0004	1.942e-05	1.716e-05	0.0001	1.97e-05	1.969e-05	1.285e-05	2.686e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0	0	0.086	0.32610	T	0.369	0.44501	T	0.097	0.25541	B	0.016	0.17743	B	0.010839	0.01288	N	2.246270	1	0.08975	N	0	0.06538	N	2.86	0.17596	T	-0.93	0.27669	N	0.177	0.19055	-1.0204	0.23584	T	0.021	0.08870	T	10	0.07447937	0.11390	T	8.44E-4	0.00713	T	0.036	0.09122	.	.	0.221734844693	0.21761	0.061482601137988716	0.06088	0.108240947712	0.12206	0.31266862154	0.12310	T	0.05135	0.28854	T	-0.423366	0.01629	T	-0.728461	0.04398	T	0.0658603724887803	0.08058	T	0.525647	0.17278	T	0.04033274	0.05739	0.03454563	0.02541	0.04033274	0.05738	0.03454563	0.02541	-3.841	0.21418	T	.	.	0.102	0.23675	B	.;.;.	.;.;.	-0.238364	0.02900	0.417	0.69690805168179526	0.09053	0.03479	0.08641	N	AEBI	0.059058	0.11125	N	-1.04428782386425	0.07700	0.3586068	-1.04482107633448	0.08815	0.435285	0.0416875949627673	0.14494	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.97	1.0	0.18999	-0.659000	0.05423	-0.218000	0.10790	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.2459:0.1144:0.1609:0.4788	0.777	0.00968	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	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.1667	2658.06	34	chr14	45175375	.	T	C	2658.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.145;DP=336;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=2.2;SOR=0.668	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1490,0,1591	4	0	2	0
chr14	50201043	50201043	C	G	exonic	SOS2	.	nonsynonymous SNV	SOS2:NM_006939:exon3:c.G255C:p.W85C	Noonan syndrome 9, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.873	0.217889650577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	-1.9	0.84628	D	-11.33	0.99407	D	0.914	0.91621	0.705	0.93236	D	0.783	0.92621	D	10	0.84055686	0.83211	D	0.21789	0.87631	D	0.873	0.96207	0.552	0.66856	0.814105034827	0.81235	0.8317910279672358	0.83138	1.97721070638	0.93612	0.953378796577	0.99817	D	0.708476	0.91665	D	0.446435	0.92319	D	0.403496	0.92225	D	0.999515175819397	0.97717	D	0.992201	0.98745	D	0.9194583	0.93195	0.88998944	0.94266	0.9194583	0.93196	0.88998944	0.94266	-10.554	0.77157	D	0.7428761047561503	0.82496	1.000	0.99585	P	.;.	.;.	5.189249	0.87026	29.1	0.9926454252364264	0.57322	0.98902	0.88388	D	AEFBI	0.899860	0.84473	D	0.87958812349528	0.90724	10.53597	0.842079368808883	0.92545	11.48861	0.999999999849753	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.34	5.34	0.75982	7.893000	0.85877	7.612000	0.61951	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.400	0.94616	459	0.78817	Histone H2A/H2B/H3;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	658.83	34	chr14	50201043	.	C	G	658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.943;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=1.18;SOR=0.734	GT:AD:DP:GQ:PL	0/1:49,32:81:99:669,0,1256	5	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	442.52	21	chr14	58213644	.	T	C	442.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.935;DP=298;ExcessHet=6.1542;FS=360.341;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.36;SOR=9	GT:AD:DP:GQ:PL	0/1:34,15:49:52:52,0,708	1	0	5	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	579.42	77	chr14	64158707	.	T	C	579.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.587;DP=539;ExcessHet=6.1542;FS=180.799;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.52;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,16:89:99:0|1:64158707_T_C:103,0,2326:64158707	1	0	5	0
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	92.84	41	chr14	64158708	.	G	A	92.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.779;DP=374;ExcessHet=0;FS=51.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-0.219;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,16:89:99:0|1:64158707_T_C:103,0,2326:64158707	5	0	1	0
chr14	71587916	71587916	C	T	exonic	SIPA1L1	.	nonsynonymous SNV	SIPA1L1:NM_001284246:exon2:c.C44T:p.T15I,SIPA1L1:NM_001284247:exon4:c.C44T:p.T15I,SIPA1L1:NM_001354285:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354287:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354288:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354286:exon6:c.C44T:p.T15I,SIPA1L1:NM_001284245:exon7:c.C44T:p.T15I,SIPA1L1:NM_015556:exon7:c.C44T:p.T15I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0125808766887	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	.	2.054e-06	2.052e-06	4.086e-06	0	2.701e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.20912	T	0.11	0.37310	T	0.666	0.41077	P	0.23	0.38212	B	0.042546	0.23831	N	0.463823	0.999949	0.19238	N	1.39	0.34934	L	-1.01	0.76300	T	-3.28	0.65627	D	0.223	0.34012	-0.8628	0.51061	T	0.236	0.60319	T	10	0.09123403	0.15965	T	0.012581	0.31278	T	0.088	0.25558	0.257	0.19845	0.485485078511	0.48178	0.07605499963878577	0.07541	0.380412379635	0.39413	0.446199983358	0.31425	T	0.078574	0.35924	T	-0.0496129	0.44507	T	-0.309042	0.43762	T	0.425381481647491	0.29889	T	0.872813	0.58002	D	0.05980843	0.12200	0.053633418	0.09072	0.05980843	0.12199	0.053633418	0.09072	-4.148	0.25995	T	.	.	0.133	0.28920	B	.;.;.;.	.;.;.;.	2.132625	0.27151	17.36	0.93881906736153264	0.23900	0.62811	0.31895	D	AEFBHCI	0.175524	0.30270	N	-0.518148280748305	0.21493	1.141042	-0.432371355780511	0.24053	1.315044	0.999992544863892	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.42	3.53	0.39533	2.346000	0.43683	4.062000	0.41595	0.599000	0.40250	0.506000	0.27002	0.999000	0.35428	0.993000	0.69303	0.0:0.6077:0.3923:0.0	15.573	0.76094	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	.	.	.	.	.	.	.	.	0.1667	1296.06	33	chr14	71587916	.	C	T	1296.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.724;DP=271;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.598;SOR=0.736	GT:AD:DP:GQ:PL	0/1:47,27:74:99:707,0,1317	4	0	2	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	321.03	129	chr14	78297852	.	G	A	321.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.202;DP=747;ExcessHet=1.383;FS=240.602;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.123;SOR=10.76	GT:AD:DP:GQ:PL	0/1:107,50:161:74:74,0,1991	3	0	3	0
chr14	81396151	81396151	A	G	exonic	STON2	.	nonsynonymous SNV	STON2:NM_001256430:exon4:c.T116C:p.L39P,STON2:NM_001366849:exon4:c.T116C:p.L39P,STON2:NM_001366850:exon4:c.T116C:p.L39P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.019124636134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.91255	T	0.282	0.21545	T	0.001	0.07471	B	0.002	0.06944	B	0.885378	0.07262	N	1.058040	0.99999	0.08975	N	1.355	0.33814	L	-2.11	0.86216	D	-0.21	0.69236	N	0.062	0.04307	-0.7598	0.57416	T	0.354	0.71728	T	10	0.05246547	0.05286	T	0.019125	0.41408	T	0.205	0.49236	0.146	0.04941	0.395439683604	0.39153	0.1740998074451335	0.17328	0.168298605729	0.18978	0.309052467346	0.11764	T	0.004865	0.04280	T	-0.00123817	0.51485	T	-0.239555	0.50842	T	0.048658911138773	0.05263	T	0.509649	0.16214	T	0.07359461	0.16456	0.082202084	0.18743	0.07359461	0.16456	0.082202084	0.18743	-3.279	0.13467	T	.	.	0.059	0.00834	B	.;.;.;.;.	.;.;.;.;.	1.359111	0.17679	13.30	0.945318469345936	0.25031	0.02409	0.06817	N	AEFGBI	0.087342	0.17709	N	-0.870672768988695	0.11544	0.5576998	-0.803707879765214	0.14407	0.7525385	0.999904016978778	0.45458	0.775728	0.99543	0	0.573888	0.26702	0	0.663124	0.60104	0	0.564101	0.26826	0	.	.	5.8	0.466	0.15928	0.100000	0.15067	1.936000	0.29800	0.743000	0.86499	0.000000	0.06391	0.001000	0.17328	0.980000	0.58198	0.5409:0.2914:0.1677:0.0	5.016	0.13678	653	0.62661	.;.;.;Stonin-2, N-terminal;Stonin-2, 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	.	.	.	.	.	.	.	.	0.08333	1239.83	33	chr14	81396151	.	A	G	1239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=273;ExcessHet=0;FS=2.601;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.84;SOR=1.022	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1250,0,1335	5	0	1	0
chr14	92071010	92071010	-	CTGCTGCTGCTGCTG	exonic	ATXN3	.	nonframeshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAG:p.A22_G23insAAAAA,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAG:p.A77_G78insAAAAA,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAG:p.A37_G38insAAAAA,ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAG:p.A92_G93insAAAAA,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAG:p.A143_G144insAAAAA,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAG:p.Q184_G185insQQQQQ,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAG:p.Q126_G127insQQQQQ,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAG:p.Q254_G255insQQQQQ,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAG:p.Q235_G236insQQQQQ,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAG:p.Q290_G291insQQQQQ,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAG:p.Q250_G251insQQQQQ,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAG:p.Q305_G306insQQQQQ	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2810653	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002911	45	154602	rs763541221	0.0010	0.0011	0.0010	0.0010	0.0104	0.0010	0.0010	0.0094	0.0090	0.0104	0.0015	0.0018	0	0.0007	0.0029	0.0007	0.0018	0.0011	0.0033	0.0032	0.0032	0.0034	0.0093	0.0031	0.0030	0.0085	0.0082	0.0093	0	0.0035	0.0023	0	0.0003	0.0071	0.0009	0.0015	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8092.51	47	chr14	92071010	.	C	CCTGCTGCTGCTGCTG	8092.51	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.34;DP=353;ExcessHet=0;FS=5.991;MLEAC=2;MLEAF=0.167;MQ=59.47;MQRankSum=-1.307;QD=31.58;ReadPosRankSum=-0.975;SOR=1.535	GT:AD:DP:GQ:PL	1/1:0,2:27:46:453,47,0	5	1	0	0
chr14	93928472	93928472	G	T	exonic	FAM181A	.	nonsynonymous SNV	FAM181A:NM_001207071:exon2:c.G187T:p.A63S,FAM181A:NM_001207072:exon2:c.G187T:p.A63S,FAM181A:NM_001207073:exon2:c.G187T:p.A63S,FAM181A:NM_001207074:exon2:c.G187T:p.A63S,FAM181A:NM_138344:exon3:c.G373T:p.A125S	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00606174131219	0.0018	0.000599042	0.0015	0.0002	0.0007	0	0.0014	0.0023	0.0034	0.0007	0.0015136	234	154602	rs139773135	0.0016	0.0016	0.0016	0.0015	0.0042	0.0015	0.0015	0.0029	0.0024	0.0003	0.0008	0.0140	0	0.0017	0.0042	0.0014	0.0027	0.0007	0.0015	0.0015	0.0013	0.0017	0.0019	0.0013	0.0013	0.0016	0.0015	0.0002	0	0.0007	0.0138	0	0.0025	0.0068	0.0019	0.0014	0.0004	0.744	0.04643	T	0.809	0.04220	T	0.012	0.16265	B	0.006	0.12133	B	0.203244	0.16547	N	0.496191	1	0.08975	N	1.7	0.43825	L	1.6	0.28604	T	-0.04	0.08971	N	0.063	0.05037	-0.9512	0.40765	T	0.022	0.09375	T	10	0.0038964152	0.00074	T	0.006062	0.15846	T	0.045	0.12272	.	.	0.107399877778	0.10242	0.12977652117394323	0.12902	0.0628094498283	0.06995	0.361955672503	0.19671	T	0.005197	0.04646	T	-0.562994	0.00244	T	-0.587336	0.13897	T	0.00891513138234211	0.00111	T	.	.	.	0.07257533	0.16154	0.078052275	0.17447	0.07257533	0.16153	0.078052275	0.17447	-4.204	0.27341	T	.	.	0.095	0.14797	B	.;.;.;.;.	.;.;.;.;.	1.198498	0.15906	12.18	0.60569020453218336	0.06495	0.05956	0.11914	N	AEFBI	0.072216	0.14405	N	-1.04326936254504	0.07720	0.3596091	-0.952441548041904	0.10866	0.5500831	0.204699209452549	0.18166	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	2.68	0.30839	0.412000	0.20852	6.380000	0.55540	0.590000	0.31872	0.000000	0.06391	0.999000	0.35428	0.022000	0.11911	0.094:0.1938:0.5673:0.1449	4.322	0.10461	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.005435	0.014620	0.000000	0.008621	0.003049	0.000000	0.08333	1229.83	40	chr14	93928472	.	G	T	1229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.578;DP=275;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=2.59;SOR=0.585	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1240,0,1205	5	0	1	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	0.1667	3385.06	128	chr14	94290332	.	G	A	3385.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.11;DP=442;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.706;SOR=0.679	GT:AD:DP:GQ:PL	0/1:81,62:143:99:1496,0,2067	4	0	2	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	1167.3	85	chr14	94497802	.	C	T	1167.3	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.282;DP=483;ExcessHet=3.1439;FS=349.365;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.071;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,33:86:99:.:.:333,0,991:.	0	0	4	2
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	86.08	26	chr14	96328715	.	G	C	86.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.468;DP=143;ExcessHet=0.4139;FS=59.017;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=2.33;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,10:30:31:0|1:96328709_G_C:31,0,388:96328709	4	0	2	0
chr14	103975473	103975473	T	C	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon7:c.T931C:p.Y311H	.	.	.	.	.	.	.	.	.	.	.	2373708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00623647484305	.	.	9.477e-05	0	0.0002	0	0	0.0001	0	0	0.0001035	16	154602	rs764483040	6.295e-05	6.293e-05	6.399e-05	6.189e-05	0.0001	5.229e-05	4.846e-05	6.323e-05	5.825e-05	0	0.0001	0	0	0	0	7.645e-05	3.313e-05	0	5.913e-05	5.91e-05	5.138e-05	6.723e-05	0.0001	3.077e-05	2.21e-05	5.841e-05	4.239e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0	0.577	0.06049	T	0.123	0.35582	T	0.012	0.16265	B	0.02	0.19048	B	0.055147	0.22665	N	0.377447	0.999995	0.08975	N	1.79	0.46772	L	4.27	0.02513	T	-0.99	0.26200	N	0.245	0.27673	-1.0017	0.29430	T	0.012	0.04653	T	10	0.09786022	0.17653	T	0.006236	0.16347	T	0.048	0.13305	0.645	0.78224	0.170165803431	0.16609	0.6562136160662583	0.65557	0.278161204612	0.30303	0.346315026283	0.17378	T	0.112681	0.42914	T	-0.437265	0.01342	T	-0.610832	0.11917	T	0.0550469388983849	0.06364	T	0.808019	0.45805	T	0.059917342	0.12234	0.057719693	0.10544	0.059917342	0.12234	0.057719693	0.10543	-5.718	0.43853	T	.	.	0.096	0.28232	B	.;.	.;.	1.383513	0.17953	13.46	0.87846619740112741	0.17525	0.76013	0.37250	D	AEFDI	0.302762	0.41092	N	-0.391027981910677	0.25787	1.402488	-0.358706164840169	0.26240	1.448126	0.414014300746783	0.20236	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	2.68	0.30839	2.314000	0.43403	1.116000	0.24201	0.665000	0.62972	0.915000	0.31815	0.002000	0.18203	0.988000	0.63387	0.0:0.1733:0.0:0.8267	8.595	0.32874	465	0.78421	Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1256.83	35	chr14	103975473	.	T	C	1256.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.89;DP=262;ExcessHet=0;FS=1.676;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.26;SOR=0.667	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1267,0,1154	5	0	1	0
chr14	104930007	104930007	C	T	exonic	PLD4	.	nonsynonymous SNV	PLD4:NM_001308174:exon6:c.C640T:p.R214W,PLD4:NM_138790:exon6:c.C619T:p.R207W	.	.	.	.	.	.	.	.	.	.	.	2297415	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0108576405845	.	.	5.013e-05	0	0	0	0	9.111e-05	0	0	5.82e-05	9	154602	rs746101864	4.927e-05	4.925e-05	5.311e-05	4.54e-05	5.936e-05	3.994e-05	3.671e-05	4.786e-05	4.366e-05	0	0	0	2.519e-05	0	0	5.936e-05	3.312e-05	3.478e-05	7.886e-05	7.881e-05	8.994e-05	6.726e-05	0.0004	4.497e-05	3.513e-05	0.0002	0.0001	2.414e-05	0	0.0004	0	0	0	0	7.351e-05	0	0	0.006	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.84	0.60170	P	0.131655	0.18615	N	0.548950	0.999997	0.08975	N	2.965	0.85198	M	1.8	0.25509	T	-5.17	0.83489	D	0.42	0.45992	-0.9311	0.43977	T	0.126	0.43257	T	10	0.24359462	0.41577	T	0.010858	0.27874	T	0.107	0.30369	0.545	0.65873	0.471941563831	0.46822	0.563174634371461	0.56244	0.328705556561	0.34977	0.283849298954	0.08035	T	0.082123	0.36756	T	-0.315386	0.07282	T	-0.493163	0.23060	T	0.793707430362701	0.45933	D	0.893711	0.82144	D	0.23649484	0.46500	0.26417398	0.52233	0.23649484	0.46500	0.26417398	0.52233	-8.405	0.63798	D	.	.	0.090	0.13690	B	.;.;.;.	.;.;.;.	3.013353	0.40302	21.1	0.99655140728175884	0.77568	0.07025	0.13051	N	AEFDGBI	0.377091	0.46099	N	-0.479138387420667	0.22765	1.217896	-0.726060627635678	0.16313	0.8623732	0.993739236038795	0.33333	0.695654	0.57023	0	0.723109	0.82256	0	0.563428	0.18855	0	0.562822	0.20929	0	.	.	3.87	-0.678	0.10782	0.033000	0.13642	-0.665000	0.07962	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.6983:0.3017:0.0:0.0	13.826	0.62845	982	0.03397	.;.;.;Phospholipase D-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	.	.	.	.	.	.	.	.	0.08333	1869.83	35	chr14	104930007	.	C	T	1869.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.191;DP=332;ExcessHet=0;FS=1.277;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.6;SOR=0.589	GT:AD:DP:GQ:PL	0/1:74,76:150:99:1880,0,1754	5	0	1	0
chr14	104950428	104950428	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A4723G:p.K1575E,AHNAK2:NM_138420:exon7:c.A5023G:p.K1675E	.	431	1090	0	1	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0024	0.00579073	0.0016	0.0066	0.0040	0.0078	0	0.0001	0.0023	0.0004	0.0015653	242	154602	rs190165756	0.0006	0.0006	0.0006	0.0005	0.0077	0.0006	0.0005	0.0070	0.0067	0.0072	0.0028	3.88e-05	0.0077	1.92e-05	0.0003	8.205e-05	0.0009	0.0004	0.0023	0.0023	0.0024	0.0021	0.0082	0.0021	0.0020	0.0062	0.0055	0.0063	0	0.0015	0	0.0082	0	0.0034	0.0002	0.0015	0.0007	0.478	0.08286	T	0.238	0.24549	T	0.983	0.60381	D	0.978	0.74104	D	.	.	.	.	1	0.81001	D	2.33	0.66821	M	5.78	0.00681	T	-1.15	0.29525	N	0.187	0.20395	-1.0398	0.17374	T	0.006	0.02093	T	9	0.006961435	0.00158	T	.	.	.	0.096	0.27654	.	.	0.0551355673512	0.04727	0.0039706299088745865	0.00372	.	.	0.257249176502	0.04569	T	0.019657	0.15622	T	-0.571382	0.00217	T	-0.590081	0.13659	T	0.0198273499705426	0.00684	T	0.692231	0.30167	T	0.19792527	0.41676	0.10043962	0.24015	0.19792527	0.41676	0.10043962	0.24015	-9.856	0.73045	D	.	.	0.179	0.39064	B	.	.	2.333315	0.29889	18.27	0.94255251961912712	0.24530	0.18232	0.20175	N	AEFBI	.	.	.	-0.255816846521136	0.30872	1.725544	-0.450780250098706	0.23527	1.283458	0.165191738801595	0.17653	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.97	3.97	0.45241	0.442000	0.21343	-1.400000	0.05528	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	11.157	0.47719	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	.	.	.	.	.	.	.	.	0.08333	5500.83	136	chr14	104950428	.	T	C	5500.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.577;DP=1884;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.92;MQRankSum=0.566;QD=12.17;ReadPosRankSum=0.558;SOR=0.661	GT:AD:DP:GQ:PL	0/1:228,224:452:99:5511,0,6217	5	0	1	0
chr14	104951031	104951031	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4120T:p.R1374W,AHNAK2:NM_138420:exon7:c.C4420T:p.R1474W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00688079849206	.	0.00259585	0.0001	0	0	0	0	9.511e-05	0	0.0005	0.0004995	13	26028	rs536790569	0.0001	8.851e-05	8.742e-05	0.0001	0.0008	8.955e-05	8.357e-05	0.0006	0.0006	9.431e-05	8.422e-05	0	2.571e-05	0	0	6.795e-05	2.422e-05	0.0008	0.0001	0.0002	5.389e-05	0.0002	0.0010	9.161e-05	7.402e-05	0.0004	0.0003	0	0	8.917e-05	0	0.0010	0	0	0.0001	0.0014	0.0006	0.007	0.59928	D	0.025	0.56192	D	0.979	0.59044	D	0.14	0.33554	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	5.46	0.00959	T	-1.23	0.31170	N	0.188	0.20528	-0.8763	0.50052	T	0.003	0.01026	T	9	0.012402773	0.00267	T	0.006881	0.18205	T	0.118	0.32913	0.311	0.28451	0.152612264143	0.14878	0.007841199481338774	0.00749	.	.	0.210725963116	0.00842	T	0.020888	0.16365	T	-0.575089	0.00206	T	-0.672966	0.07420	T	0.0823292955756187	0.10283	T	0.383462	0.09368	T	0.040735435	0.05870	0.040628422	0.04436	0.040735435	0.05869	0.040628422	0.04436	-6.323	0.48904	T	.	.	0.086	0.10594	B	.	.	1.876222	0.23830	16.17	0.94703942961988274	0.25360	0.00792	0.03237	N	AEFBI	.	.	.	-0.711472819774354	0.15698	0.7934441	-0.952897858325336	0.10855	0.5494772	1.02432179258145E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	1.9	0.459	0.15890	-0.471000	0.06709	-3.942000	0.02438	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1491:0.5113:0.3396	5.191	0.14534	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002710	0.000000	0.003268	0.000000	0.000000	0.000000	0.000000	0.000000	0.2	7223.93	.	chr14	104951031	.	G	A	7223.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.81;DP=559;ExcessHet=0;FS=3.464;MLEAC=2;MLEAF=0.2;MQ=59.81;MQRankSum=-0.183;QD=32.54;ReadPosRankSum=-1.53;SOR=0.567	GT:AD:DP:GQ:PL	1/1:1,221:222:99:7241,655,0	4	1	0	1
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	0.1667	4421.06	54	chr14	104953797	.	C	T	4421.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.573;DP=631;ExcessHet=0.4139;FS=1.759;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.38;SOR=0.589	GT:AD:DP:GQ:PL	0/1:112,97:209:99:2482,0,3030	4	0	2	0
chr14	105529694	105529694	C	T	exonic	TMEM121	.	nonsynonymous SNV	TMEM121:NM_001331238:exon2:c.C860T:p.P287L,TMEM121:NM_025268:exon2:c.C860T:p.P287L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.15544580431	.	.	5.615e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs781969647	1.435e-06	2.737e-06	1.419e-06	1.451e-06	1.843e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.843e-06	0	0	6.708e-06	6.573e-06	0	1.373e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.149	0.24758	T	0.273	0.22154	T	0.039	0.21116	B	0.023	0.19966	B	0.005511	0.32736	U	0.000000	1	0.08975	N	0	0.06538	N	.	.	.	0.0	0.07008	N	0.309	0.34874	-1.0458	0.15592	T	0.054	0.22883	T	9	0.08391923	0.14010	T	0.155446	0.83639	D	0.028	0.06331	0.184	0.09259	0.104622674875	0.10061	0.5500050222962688	0.54926	1.25776184724	0.81953	0.842736363411	0.88511	D	0.043868	0.26638	T	-0.210254	0.19342	T	-0.51952	0.20344	T	0.0840139908682058	0.10492	T	0.505449	0.15971	T	0.046537034	0.07804	0.057787098	0.10565	0.046537034	0.07803	0.057787098	0.10564	-4.454	0.30283	T	.	.	0.072	0.04356	B	.;.	.;.	1.993846	0.25335	16.72	0.95976789979660726	0.28346	0.08652	0.14551	N	AEFDBHCI	0.082152	0.16631	N	-0.860605885725915	0.11790	0.5709316	-0.809350206123155	0.14270	0.7447234	0.999999709833864	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.33	3.42	0.38259	0.725000	0.25638	2.919000	0.35553	0.596000	0.33519	0.000000	0.06391	0.906000	0.28050	0.617000	0.31819	0.0:0.6565:0.3435:0.0	11.735	0.51024	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	.	.	.	.	.	.	.	.	0.08333	732.83	34	chr14	105529694	.	C	T	732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.72;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.857;SOR=0.705	GT:AD:DP:GQ:PL	0/1:46,27:73:99:743,0,1248	5	0	1	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.3333	2439.96	33	chr15	20845872	.	T	C	2439.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.07;DP=1260;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=37.37;MQRankSum=-0.44;QD=2.08;ReadPosRankSum=0.277;SOR=0.788	GT:AD:DP:GQ:PL	0/1:285,59:344:99:566,0,6877	2	0	4	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.5	95	chr15	23361385	.	C	*	468.5	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.948;DP=430;ExcessHet=3.1439;FS=1.576;MLEAC=3;MLEAF=0.25;MQ=57.4;MQRankSum=0.836;QD=1.43;ReadPosRankSum=2.96;SOR=0.688	GT:AD:DP:GQ:PL	0/1:34,16:50:99:551,0,1306	3	0	3	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10281.9	114	chr15	23440492	.	C	*	10281.9	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.67;DP=681;ExcessHet=0;FS=3.882;MLEAC=5;MLEAF=0.417;MQ=57.6;MQRankSum=1.04;QD=15.51;ReadPosRankSum=0.335;SOR=0.821	GT:AD:DP:GQ:PL	1/0:0,66:132:99:4786,2217,2575	1	0	5	0
chr15	30093173	30093173	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.T1657C:p.S553P	.	155	1357	10	0	0	10	0.00367107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00121525788431	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200195856	0.0002	0.0007	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0004	0.0002	0.0002	0.0006	0.0002	0.0005	0.0001	0.0002	0.0005	0.0006	0.0021	0.0006	0.0005	0.0011	0.0005	0.0004	0.0004	0.0004	0.0004	0	0.0006	0.0006	0.0011	0.0006	0	0.0006	0.0010	0.0009	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.7	0.00032	N	2.12	0.19726	T	4.86	0.00026	N	0.123	0.11483	-0.9684	0.37530	T	0.015	0.05946	T	6	0.02580288	0.00763	T	0.001215	0.01583	T	.	.	.	.	0.0401082797425	0.02173	0.1795603255725934	0.17875	1.60696827796	0.88818	.	.	.	0.002467	0.01855	T	-0.350049	0.04724	T	-0.740598	0.03866	T	0.034453742032627	0.02714	T	.	.	.	0.0440634	0.06977	0.062303003	0.12166	0.0440634	0.06977	0.062303003	0.12166	-2.956	0.09715	T	.	.	0.044	0.00036	B	.	.	-0.048893	0.03957	0.886	0.23489921705929645	0.00995	0.00013	0.00170	N	AEFI	0.012405	0.00135	N	-1.2329140063075	0.04530	0.2046269	-1.40894494982791	0.03162	0.1469507	1.7484122585101E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	0.429	0.15721	0.455000	0.21555	-0.908000	0.06966	-2.424000	0.00287	0.837000	0.30238	0.000000	0.08366	0.000000	0.00833	0.2984:0.497:0.0:0.2046	2.193	0.03665	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	31.83	35	chr15	30093173	.	T	C	31.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=229;ExcessHet=0;FS=16.723;MLEAC=1;MLEAF=0.083;MQ=34.55;MQRankSum=-3.608;QD=0.48;ReadPosRankSum=-1.232;SOR=3.952	GT:AD:DP:GQ:PL	0/1:58,9:67:42:42,0,1535	5	0	1	0
chr15	30557784	30557784	G	A	exonic	GOLGA8Q	.	nonsynonymous SNV	GOLGA8Q:NM_001355476:exon9:c.G625A:p.E209K	.	443	1077	2	0	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000416327322425	.	.	0.0016	0	0	0	0	0	0	0.0025	0.0001164	18	154602	rs769757416	0.0002	0.0003	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	3.055e-05	0	0	7.588e-05	0	0.0002	1.725e-05	0.0002	0.0028	0.0001	0.0002	3.904e-05	0.0002	0.0027	6.597e-05	5.392e-05	0.0016	0.0013	2.483e-05	0	0	0	0	0	0	2.962e-05	0	0.0027	0.346	0.12469	T	0.281	0.21612	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.94	0.22678	T	0.85	0.01736	N	0.079	0.05414	.	.	.	.	.	.	.	0.008328617	0.00189	T	4.16E-4	0.00078	T	.	.	.	.	0.0138822411134	0.00435	0.243965938943695	0.24310	0.321520750167	0.34353	.	.	.	.	.	.	-0.647613	0.00075	T	-0.709812	0.05305	T	.	.	.	0.529347	0.17530	T	0.026030997	0.01609	0.055281717	0.09668	0.026030997	0.01608	0.055281717	0.09668	-3.355	0.14457	T	.	.	0.072	0.04119	B	.	.	-0.060563	0.03882	0.847	0.38354982934906579	0.02582	0.01153	0.04166	N	AEFI	0.034106	0.04165	N	.	.	.	.	.	.	0.0169153975057417	0.12889	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.77	-1.54	0.08130	-0.046000	0.11937	-6.332000	0.01428	-4.345000	0.00032	0.973000	0.34540	0.000000	0.08366	0.000000	0.00833	0.2057:0.3997:0.3947:0.0	5.037	0.13778	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	460.83	42	chr15	30557784	.	G	A	460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.74;DP=357;ExcessHet=0;FS=3.423;MLEAC=1;MLEAF=0.083;MQ=30.11;MQRankSum=-0.463;QD=2.65;ReadPosRankSum=0.273;SOR=1.061	GT:AD:DP:GQ:PL	0/1:138,36:174:99:471,0,3321	5	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1176.82	82	chr15	33066576	.	A	G	1176.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.882;DP=456;ExcessHet=1.383;FS=211.078;MLEAC=4;MLEAF=0.667;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=-0.619;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,12:80:99:0|1:33066576_A_G:227,0,2739:33066576	0	0	3	3
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	335.34	82	chr15	33066579	.	C	T	335.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.962;DP=493;ExcessHet=1.383;FS=169.888;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.41;ReadPosRankSum=-0.494;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,11:81:92:0|1:33066576_A_G:92,0,2865:33066576	3	0	2	1
chr15	34242208	34242208	T	G	exonic	SLC12A6	.	nonsynonymous SNV	SLC12A6:NM_001042497:exon15:c.A2011C:p.M671L,SLC12A6:NM_005135:exon16:c.A1903C:p.M635L,SLC12A6:NM_133647:exon16:c.A2056C:p.M686L,SLC12A6:NM_001042494:exon17:c.A1879C:p.M627L,SLC12A6:NM_001042495:exon17:c.A1879C:p.M627L,SLC12A6:NM_001042496:exon17:c.A2029C:p.M677L,SLC12A6:NM_001365088:exon17:c.A2056C:p.M686L	Agenesis of the corpus callosum with peripheral neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.020431993491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	D	0.103082	0.984308	0.41290	D	-2.99	0.00014	N	-4.54	0.97732	D	1.36	0.00878	N	0.305	0.34444	-0.0106	0.82037	T	0.492	0.80708	T	10	0.07766375	0.12284	T	0.020432	0.43023	T	0.343	0.66488	0.566	0.68768	0.179529687257	0.17594	0.36829319292533486	0.36743	0.974042105135	0.73489	0.635146737099	0.57875	T	0.534301	0.83940	D	0.0947219	0.63717	D	-0.101715	0.63264	T	0.23075507581234	0.21987	T	0.822018	0.48145	T	0.09822812	0.23167	0.13434298	0.32193	0.09822812	0.23167	0.13434298	0.32192	0.51	0.00268	T	.	.	0.062	0.01348	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.196240	0.28006	17.65	0.67894651845458498	0.08492	0.77817	0.38307	D	AEFDBHI	0.221442	0.34607	N	-0.722688189610016	0.15384	0.7748804	-0.376248780316141	0.25707	1.415367	0.999992102931556	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.93	4.93	0.64394	1.940000	0.39851	2.888000	0.35372	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1709:0.8291	9.934	0.40706	822	0.40702	.;.;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A domain;Amino acid permease/ SLC12A 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	53.73	37	chr15	34242208	.	T	G	53.73	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.357;DP=213;ExcessHet=0;FS=41.638;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.59;SOR=5.707	GT:AD:DP:GQ:PL	0/1:34,11:45:63:63,0,510	4	0	1	1
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	581.98	37	chr15	40356171	.	T	*	581.98	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.46;DP=255;ExcessHet=3.1439;FS=22.072;MLEAC=2;MLEAF=0.167;MQ=59.06;MQRankSum=1.45;QD=3.61;ReadPosRankSum=-0.195;SOR=2.081	GT:AD:DP:GQ:PL	0/1:40,17:57:99:492,0,1448	4	0	2	0
chr15	40356189	40356255	ACCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	714.23	29	chr15	40356189	.	ACCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	*	714.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.941;DP=341;ExcessHet=1.383;FS=26.684;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=2.78;SOR=1.609	GT:AD:DP:GQ:PL	0/1:40,17:57:99:492,0,1448	4	0	2	0
chr15	41573817	41573817	-	ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	splicing	TYRO3	NM_006293:exon18:c.2282+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC;NM_001330264:exon18:c.2147+2->ATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	.	.	.	425	1069	16	0	12	28	0.00742804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.499e-05	9.718e-05	0	0	0	0.0001	0	0	.	.	.	.	4.792e-06	6.156e-06	2.724e-06	6.88e-06	0.0002	1.99e-06	1.28e-06	7.2e-07	2e-07	0	2.241e-05	0	0	3.755e-05	0.0002	2.699e-06	0	0	0.0008	0.0025	0.0009	0.0007	0.0009	0.0007	0.0006	0.0007	0.0006	0.0006	0	0.0009	0.0012	0	0.0012	0.0034	0.0009	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1724.01	37	chr15	41573817	.	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	1724.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.24;DP=364;ExcessHet=0.4139;FS=9.802;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.468;SOR=0.741	GT:AD:DP:GQ:PL	0/1:71,26:97:99:869,0,2895	5	0	1	0
chr15	41873610	41873610	T	C	splicing	SPTBN5	NM_016642:exon26:c.4891-2A>G	.	.	.	421	1095	6	0	0	6	0.00273224	1.0000	0.912	.	2817465	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0004	0.000399361	0.0004	0	0.0023	0	0	0.0009	0	0	9.06e-05	14	154602	rs201755073	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	0.0001	0.0010	7.949e-05	0	0	0.0037	0.0001	0.0003	0.0001	0.0005	0.0005	0.0004	0.0006	0.0027	0.0004	0.0003	0.0020	0.0018	0	0	0.0027	0	0	0	0.0068	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0870298	0.62853	D	0.301795	0.88280	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.798290	0.77943	26.8	0.99487612758217414	0.67235	0.98004	0.78799	D	AEFGBI	.	.	.	1.01545169791207	0.96200	14.41447	0.853787589948177	0.93234	11.91074	0.99999076030791	0.74766	0.099367	0.02607	0	0.059962	0.00310	0	0.074216	0.02223	0	0.117559	0.03655	0	0.852332	0.51913	5.24	5.24	0.72863	4.999000	0.63678	3.598000	0.39212	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	14.156	0.64950	197	0.92378	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1049.83	35	chr15	41873610	.	T	C	1049.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.146;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.833;SOR=0.794	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1060,0,1155	5	0	1	0
chr15	42083780	42083780	C	T	splicing	PLA2G4D	NM_178034:exon7:c.472-1G>A	.	.	.	419	1090	13	0	0	13	0.00592795	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0303514	0.0176	0.0016	0.0640	0.1046	0.0070	0.0019	0.0134	0.0179	0.0161317	2494	154602	rs12442923	0.0066	0.0066	0.0067	0.0065	0.1029	0.0065	0.0065	0.1003	0.0992	0.0016	0.0555	0.0018	0.1029	0.0074	0.0085	0.0006	0.0092	0.0157	0.0081	0.0082	0.0074	0.0089	0.0980	0.0078	0.0076	0.0910	0.0882	0.0013	0	0.0283	0.0014	0.0980	0.0056	0.0102	0.0011	0.0080	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.65039e-21	0.81001	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295059	0.09133	T	-0.119131	0.61874	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.763962	0.93445	33	0.99021041686711508	0.50569	0.79996	0.39755	D	AEFDBCI	.	.	.	0.817461207292694	0.87186	9.131558	0.574163006531401	0.73095	5.914449	0.999947807246276	0.47345	0.06567	0.01388	0	0.085267	0.02369	0	0.056003	0.00319	0	0.075334	0.01956	0	0.965	0.68401	3.79	3.79	0.42757	4.413000	0.59549	7.558000	0.60417	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.437000	0.27605	0.0:1.0:0.0:0.0	11.331	0.48712	89	0.96298	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	640.83	36	chr15	42083780	.	C	T	640.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=-1.582;SOR=0.765	GT:AD:DP:GQ:PL	0/1:52,27:79:99:651,0,1368	5	0	1	0
chr15	42736590	42736590	C	T	exonic	CDAN1	.	nonsynonymous SNV	CDAN1:NM_138477:exon2:c.G281A:p.R94H	Dyserythropoietic anemia, congenital, type Ia, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.879645685743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.28271	T	0.216	0.92824	T	0.961	0.55431	D	0.425	0.45259	B	0.066816	0.21785	N	0.414481	0.652208	0.30523	N	1.295	0.32453	L	-2.24	0.87194	D	-1.04	0.54382	N	0.256	0.28965	-0.0399	0.81420	T	0.526	0.82350	D	10	0.33614916	0.50760	T	0.879646	0.99083	D	0.257	0.56827	0.236	0.16608	0.411411441165	0.40760	0.5284091621115986	0.52764	2.1666736912	0.95441	0.920750081539	0.98380	D	0.151298	0.49117	T	-0.0171324	0.49262	T	-0.262386	0.48586	T	0.914012730121613	0.57050	D	0.745225	0.40183	T	0.07040858	0.15505	0.048092667	0.07070	0.07040858	0.15505	0.048092667	0.07069	-6.154	0.47550	T	0.21297146298502706	0.28588	0.198	0.46378	B	.;.	.;.	4.198665	0.63341	24.6	0.9991331061624471	0.98238	0.35561	0.25330	N	AEFDBHCIJ	0.074309	0.14891	N	0.184128103916754	0.50437	3.233706	0.169276277986722	0.48171	3.036794	0.999980745741134	0.51787	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.22	3.3	0.36912	2.064000	0.41059	4.301000	0.42940	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.9019:0.0:0.0981	9.627	0.38919	82	0.96572	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	230.83	38	chr15	42736590	.	C	T	230.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.18;DP=143;ExcessHet=0;FS=1.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.91;SOR=1.179	GT:AD:DP:GQ:PL	0/1:12,10:22:99:241,0,289	5	0	1	0
chr15	42840406	42840406	C	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon4:c.G245C:p.G82A	Spinocerebellar ataxia 11, Autosomal dominant	2	1514	6	0	0	6	0.00197759	.	.	.	441741	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.420	0.14805088156	0.0003	0.000399361	0.0003	0	0	0	0	0.0005	0	0.0002	0.0002523	39	154602	rs200821440	0.0003	0.0003	0.0003	0.0003	0.0045	0.0002	0.0002	0.0032	0.0027	0.0006	0.0001	0	0	0	0.0045	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0.0102	0.0004	0.0009	0.0002	0.036	0.43393	D	0.04	0.59732	D	0.597	0.49745	P	0.678	0.64047	P	0.000000	0.84330	D	0.044251	1	0.81001	D	0.505	0.13445	N	1.93	0.22881	T	-5.71	0.89401	D	0.93	0.94196	-1.0190	0.24041	T	0.107	0.38955	T	10	0.42749122	0.57271	T	0.148051	0.83001	D	0.420	0.72930	.	.	0.476521225925	0.47281	0.7631474613662579	0.76262	0.903865718972	0.70756	0.779498100281	0.78851	T	0.354751	0.72186	T	-0.192418	0.21904	T	-0.155591	0.58746	T	0.26270267367363	0.23432	T	0.980302	0.94694	D	0.87693137	0.89417	0.81012625	0.88908	0.9195968	0.93209	0.79001737	0.87647	-9.112	0.68414	D	.	.	0.864	0.80551	P	.;.;.;.;.	.;.;.;.;.	4.838636	0.78981	27.0	0.95334170494985193	0.26697	0.97518	0.75271	D	AEFBI	0.883216	0.81195	D	0.472593576090897	0.65496	4.829807	0.560772000652274	0.72148	5.764658	0.999999037759939	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	7.211000	0.77438	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.935	0.92554	99	0.95913	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	406.83	33	chr15	42840406	.	C	G	406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.895;DP=257;ExcessHet=0;FS=2.178;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=-1.719;SOR=0.449	GT:AD:DP:GQ:PL	0/1:47,21:68:99:417,0,1255	5	0	1	0
chr15	42945463	42945463	T	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon47:c.A5116C:p.N1706H	Johanson-Blizzard syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0734154755636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.235	0.63160	M	0.18	0.60361	T	-4.52	0.78302	D	0.673	0.68082	-0.3687	0.73001	T	0.372	0.73083	T	10	0.6965835	0.72182	D	0.073415	0.71782	D	0.336	0.65816	0.228	0.15406	0.85081843959	0.84938	0.6458271162850663	0.64517	0.687227062568	0.60371	0.798536241055	0.81740	T	0.68154	0.90654	D	0.0576418	0.59317	T	-0.154978	0.58800	T	0.994418108471991	0.85688	D	0.952105	0.81652	D	0.7864204	0.83050	0.6394537	0.78940	0.7864204	0.83052	0.6394537	0.78941	-5.73	0.43959	T	0.8889155133377773	0.94422	0.579	0.67998	P	.	.	4.431289	0.68724	25.3	0.99593061182629194	0.73748	0.98829	0.87402	D	AEFGBI	0.895809	0.83623	D	0.761821197743358	0.83673	8.079257	0.74396087258604	0.85707	8.661009	0.999999660067243	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	7.903000	0.86133	7.928000	0.74873	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	15.612	0.76481	37	0.98026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	508.83	35	chr15	42945463	.	T	G	508.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.68;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.839;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,18:36:99:519,0,443	5	0	1	0
chr15	45117717	45117717	C	T	exonic	DUOXA1;DUOXA2	.	nonsynonymous SNV	DUOXA1:NM_001276265:exon7:c.G1115A:p.R372H,DUOXA1:NM_001276264:exon11:c.G1250A:p.R417H,DUOXA1:NM_144565:exon11:c.G1250A:p.R417H	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0849638014385	.	.	8.266e-06	0	0	0	0	0	0	6.104e-05	6.5e-06	1	154602	rs766823135	4.107e-06	4.104e-06	4.085e-06	4.129e-06	2.32e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0	2.7e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.099	0.38891	T	0.474	0.36620	P	0.047	0.24832	B	.	.	.	.	1	0.81001	D	.	.	.	0.53	0.61326	T	0.2	0.04861	N	0.124	0.20793	-0.9621	0.38781	T	0.112	0.40145	T	8	0.10206124	0.18684	T	0.084964	0.74434	D	0.230	0.53062	0.247	0.18293	0.368369118721	0.36443	0.2125027745191685	0.21166	0.338732872668	0.35836	0.278492689133	0.07283	T	.	.	.	-0.134525	0.30765	T	-0.249484	0.49867	T	0.144928966341349	0.16692	T	0.467953	0.13790	T	.	.	.	.	.	.	.	.	-5.043	0.37304	T	.	.	0.088	0.17488	B	.;.;.;.	.;.;.;.	1.153478	0.15417	11.83	0.98814104557277493	0.46672	0.50098	0.28584	D	AEFBCI	0.146593	0.27008	N	-0.446303591525871	0.23866	1.284643	-0.417843358155879	0.24473	1.340353	0.990328979882761	0.32115	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.46	0.87	0.18239	0.447000	0.21428	-0.403000	0.09398	-0.214000	0.08267	0.778000	0.29449	0.000000	0.08366	0.484000	0.28656	0.0:0.3956:0.5068:0.0976	7.553	0.26978	600	0.68026	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	770.83	39	chr15	45117717	.	C	T	770.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.983;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=1.39;SOR=0.804	GT:AD:DP:GQ:PL	0/1:43,30:73:99:781,0,1072	5	0	1	0
chr15	45187858	45187858	C	A	exonic	SHF	.	nonsynonymous SNV	SHF:NM_001301168:exon1:c.G94T:p.A32S,SHF:NM_001301169:exon1:c.G94T:p.A32S,SHF:NM_001301170:exon1:c.G94T:p.A32S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128619635388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.539e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.172	0.31225	T	.	.	.	.	.	.	.	.	.	.	1	0.22611	N	.	.	.	0.79	0.80983	T	-0.09	0.08340	N	0.113	0.10056	.	.	.	.	.	.	.	0.12535834	0.23821	T	0.12862	0.81058	D	.	.	.	.	0.849901322559	0.84845	.	.	.	.	.	.	.	0.039883	0.25342	T	-0.0964081	0.37019	T	-0.37626	0.36159	T	.	.	.	0.49655	0.15423	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06250	B	.;.;.	.;.;.	0.930545	0.13055	9.561	0.91679091814364733	0.20970	0.14258	0.18307	N	AEFDBHCIJ	0.056733	0.10511	N	.	.	.	.	.	.	0.999999941418389	0.74766	0.455138	0.09556	0	0.218748	0.04544	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	2.7	-0.336	0.12030	-1.924000	0.01657	-0.403000	0.09398	-0.405000	0.05282	0.000000	0.06391	0.115000	0.22839	0.958000	0.51230	0.0:0.4698:0.0:0.5302	6.081	0.19166	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	37.79	4	chr15	45187858	.	C	A	37.79	.	AC=2;AF=0.333;AN=6;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=18.9;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	3
chr15	50301220	50301220	C	A	splicing	GABPB1	NM_005254:exon5:c.619+1G>T;NM_001320915:exon6:c.619+1G>T;NM_001320910:exon6:c.619+1G>T;NM_002041:exon5:c.619+1G>T	.	.	.	425	1055	39	3	0	45	0.0208817	1.0000	0.938	.	2817570	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	0.00219649	0.0038	0.0016	0.0020	0	0	0.0044	0.0079	0.0072	0.0035058	542	154602	rs80042819	0.0035	0.0035	0.0033	0.0036	0.0115	0.0034	0.0033	0.0093	0.0084	0.0021	0.0030	0.0122	2.521e-05	0.0002	0.0115	0.0033	0.0038	0.0070	0.0029	0.0030	0.0031	0.0028	0.0046	0.0027	0.0026	0.0032	0.0030	0.0023	0.0022	0.0029	0.0072	0.0002	9.418e-05	0.0136	0.0036	0.0047	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0724187	0.61142	D	0.334834	0.89709	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.696742	0.75312	26.3	0.99276755404042938	0.57765	0.98054	0.79209	D	AEFBI	.	.	.	1.01461228058669	0.96177	14.38738	0.855504721223187	0.93334	11.97405	0.99392507945788	0.33413	0.156188	0.03335	0	0.156173	0.03658	0	0.121303	0.03266	0	0.126568	0.03934	0	0.976	0.78573	5.17	5.17	0.70848	1.906000	0.39518	4.004000	0.41101	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9179:0.0:0.0821	11.681	0.50721	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.08333	1032.83	33	chr15	50301220	.	C	A	1032.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=266;ExcessHet=0;FS=0.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-2.315;SOR=0.543	GT:AD:DP:GQ:PL	0/1:54,41:95:99:1043,0,1372	5	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	48.55	43	chr15	51480616	.	G	C	48.55	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-3;DP=390;ExcessHet=0.4139;FS=408.533;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=0.84;SOR=8.468	GT:AD:DP:GQ:PL	0/1:76,31:107:3:3,0,1756	1	0	2	3
chr15	55672580	55672580	C	G	exonic	PRTG	.	nonsynonymous SNV	PRTG:NM_173814:exon11:c.G1906C:p.V636L	.	437	1080	5	0	0	5	0.00230947	.	.	.	703259	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0075	0.00239617	0.0072	0.0017	0.0056	0.0001	0.0148	0.0097	0.0078	0.0022	0.0068175	1054	154602	rs149494002	0.0087	0.0087	0.0088	0.0085	0.0098	0.0085	0.0085	0.0096	0.0096	0.0016	0.0043	0.0004	5.039e-05	0.0143	0.0014	0.0098	0.0082	0.0027	0.0062	0.0062	0.0064	0.0060	0.0095	0.0059	0.0057	0.0089	0.0087	0.0018	0	0.0033	0.0006	0	0.0135	0.0068	0.0095	0.0038	0.0023	0.113	0.28772	T	0.276	0.22359	T	0.071	0.23930	B	0.038	0.23361	B	0.002061	0.37364	N	0.232951	0.999854	0.49910	D	1.82	0.47800	L	1.96	0.22270	T	-1.6	0.46842	N	0.587	0.60749	-1.1330	0.01644	T	0.040	0.17277	T	10	0.006695509	0.00152	T	.	.	.	0.085	0.24743	0.507	0.60232	0.342631996419	0.33872	0.6183329705583821	0.61766	0.160112996357	0.18061	0.612492501736	0.54668	T	0.065569	0.32721	T	-0.337909	0.05535	T	-0.251053	0.49714	T	0.00679731370280906	0.00077	T	0.869313	0.57326	D	0.1595642	0.35837	0.17360745	0.39699	0.1595642	0.35836	0.17360745	0.39698	-7.412	0.56989	T	.	.	0.341	0.55978	A	.;.	.;.	3.719838	0.53147	23.3	0.99247667342241963	0.56759	0.98198	0.80457	D	AEFBI	0.650962	0.62488	D	0.0629097893960828	0.44739	2.742448	0.232147999281446	0.51640	3.344773	0.997794014938111	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.661000	0.61213	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	18.678	0.91497	596	0.68392	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2518.06	34	chr15	55672580	.	C	G	2518.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.224;DP=281;ExcessHet=0.4139;FS=1.488;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=1.58;SOR=0.875	GT:AD:DP:GQ:PL	0/1:27,49:76:99:1482,0,640	4	0	2	0
chr15	62164783	62164783	C	G	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.G202C:p.A68P	.	421	1013	82	6	0	94	0.0443396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	0.0036	0.0139776	0.0439	0.0102	0.0222	0	0.0455	0.0300	0.0323	0.0540	0.0054656	845	154602	rs146941362	0.0098	0.0096	0.0089	0.0107	0.0407	0.0097	0.0096	0.0395	0.0390	0.0021	0.0047	0.0178	0.0004	0.0038	0.0368	0.0082	0.0114	0.0407	0.0069	0.0069	0.0066	0.0072	0.0415	0.0065	0.0064	0.0368	0.0350	0.0027	0.0077	0.0052	0.0173	0.0010	0.0045	0.0171	0.0075	0.0104	0.0415	0.263	0.16412	T	0.197	0.27855	T	0.863	0.47474	P	0.562	0.49608	P	0.717320	0.09964	U	0.841107	1	0.08975	N	1.445	0.36358	L	-3.27	0.93640	D	-1.54	0.37375	N	0.119	0.10911	-0.3071	0.74787	T	0.494	0.80816	T	10	0.002736181	0.00043	T	.	.	.	0.297	0.61730	.	.	.	.	0.08612991599421099	0.08546	1.94099853373	0.93232	0.790393352509	0.80503	T	0.006496	0.05931	T	-0.404157	0.02174	T	-0.321904	0.42365	T	0.0249916728120931	0.01272	T	0.435556	0.11926	T	0.14233036	0.32760	0.19578515	0.43275	0.14233036	0.32759	0.19578515	0.43274	-3.454	0.15794	T	.	.	0.087	0.11269	B	.	.	0.845048	0.12171	8.717	0.9855664577571297	0.42922	0.12150	0.17090	N	AEFDBCIJ	0.321505	0.42428	N	-0.642543929129143	0.17678	0.9116954	-0.842017092142143	0.13479	0.6994675	0.999950864942535	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.581474	0.35302	0	.	.	3.25	-0.0685	0.13088	-0.595000	0.05822	-0.498000	0.08819	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1906:0.4752:0.0:0.3342	3.087	0.05904	277	0.89083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027244	0.005882	0.022857	0.024242	0.000000	0.045455	0.013158	0.067460	0.1667	1544.06	48	chr15	62164783	.	C	G	1544.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.507;DP=272;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.35;SOR=0.728	GT:AD:DP:GQ:PL	0/1:23,37:60:99:988,0,514	4	0	2	0
chr15	67465269	67465269	C	T	exonic	IQCH	.	nonsynonymous SNV	IQCH:NM_001322472:exon11:c.C1427T:p.T476I,IQCH:NM_001284347:exon12:c.C1619T:p.T540I,IQCH:NM_001322474:exon12:c.C1664T:p.T555I,IQCH:NM_001322470:exon13:c.C1856T:p.T619I,IQCH:NM_001322473:exon13:c.C1856T:p.T619I,IQCH:NM_001284348:exon14:c.C1631T:p.T544I,IQCH:NM_001322475:exon14:c.C1856T:p.T619I,IQCH:NM_001031715:exon17:c.C2648T:p.T883I	.	429	1072	19	2	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0007	0.00499201	0.0035	0.0002	0.0004	0	0.0002	0.0006	0.0066	0.0221	0.0031047	480	154602	rs36067711	0.0018	0.0018	0.0011	0.0024	0.0220	0.0017	0.0017	0.0212	0.0209	0.0001	0.0006	0.0009	0	0.0001	0.0045	0.0004	0.0021	0.0220	0.0012	0.0012	0.0008	0.0017	0.0258	0.0011	0.0010	0.0221	0.0207	0.0002	0	0.0003	0.0003	0.0002	0	0.0136	0.0006	0.0019	0.0258	0.204	0.20607	T	0.194	0.28120	T	0.0	0.07471	B	0.002	0.06944	B	0.061213	0.02142	N	1.971120	1	0.08975	N	1.04	0.26193	L	0.89	0.45636	T	-1.48	0.36586	N	0.066	0.11197	-1.0332	0.19427	T	0.038	0.16290	T	10	0.0029875338	0.00049	T	.	.	.	0.020	0.03691	.	.	0.0138822411134	0.00435	0.23561869525893303	0.23476	0.108590475103	0.12248	0.276120305061	0.06957	T	0.046214	0.27356	T	-0.7134	0.00030	T	-0.780606	0.02435	T	0.0105919242418063	0.00148	T	0.467153	0.13745	T	0.028126314	0.02102	0.03579109	0.02898	0.028126314	0.02102	0.03579109	0.02898	-4.728	0.33742	T	.	.	0.099	0.19800	B	.;.;.	.;.;.	-1.750442	0.00175	0.003	0.81642553260835471	0.13787	0.01283	0.04476	N	AEFDGBI	0.040499	0.06034	N	-2.00195676999597	0.00210	0.008980746	-2.10308409786073	0.00184	0.008079054	0.999999999999998	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.05	-10.1	0.00330	-3.429000	0.00527	-5.629000	0.01650	-0.902000	0.02317	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1868:0.438:0.2202:0.155	1.579	0.02472	778	0.48011	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.001359	0.011696	0.000000	0.000000	0.009146	0.018939	0.1667	3136.06	39	chr15	67465269	.	C	T	3136.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.335;DP=396;ExcessHet=0.4139;FS=3.549;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.844;SOR=0.505	GT:AD:DP:GQ:PL	0/1:49,69:118:99:1715,0,1257	4	0	2	0
chr15	72289289	72289289	T	C	splicing	CELF6	NM_001172684:exon8:c.881-2A>G;NM_052840:exon8:c.881-2A>G	.	.	.	363	1158	1	0	0	1	0.000431593	1.0000	0.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779176827	4.382e-05	4.583e-05	3.921e-05	4.852e-05	0.0001	3.488e-05	3.166e-05	5.084e-05	3.283e-05	3.053e-05	2.647e-05	0	0.0001	0	0	4.294e-05	5.097e-05	6.145e-05	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	6.852e-05	2.866e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.302222	0.08451	T	-0.481514	0.24285	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.402194	0.47155	22.4	0.76843570732595579	0.11632	0.92199	0.55166	D	AEFDBI	.	.	.	0.38320040964616	0.60512	4.240842	0.0733793051189895	0.43216	2.627906	0.0297979835463002	0.13907	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.148506	0.27271	4.77	0.717	0.17352	1.883000	0.39293	1.938000	0.29812	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.504000	0.29107	0.4622:0.0:0.0:0.5378	9.515	0.38264	201	0.92177	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	739.06	35	chr15	72289289	.	T	C	739.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.11;DP=189;ExcessHet=0.4139;FS=0.957;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.535;SOR=0.937	GT:AD:DP:GQ:PL	0/1:20,21:41:99:523,0,652	4	0	2	0
chr15	76376173	76376173	G	T	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon29:c.C3106A:p.P1036T,SCAPER:NM_020843:exon29:c.C3844A:p.P1282T,SCAPER:NM_001353009:exon30:c.C3862A:p.P1288T,SCAPER:NM_001353010:exon30:c.C3442A:p.P1148T,SCAPER:NM_001353011:exon30:c.C3460A:p.P1154T,SCAPER:NM_001353012:exon30:c.C3442A:p.P1148T	.	9	1511	2	0	0	2	0.000661376	.	.	.	3509727	SCAPER-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.0033296938603	0.0003	0.000399361	0.0003	0	0	0	0	0.0004	0	0.0003	0.0002587	40	154602	rs201658000	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	4.472e-05	0.0034	0	0	0	9.174e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	0	0	0	0.0055	0	0	0	0.0002	0	0.0010	0.639	0.08212	T	0.918	0.23164	T	.	.	.	.	.	.	0.000002	0.62929	D	0.104145	0.976104	0.39246	D	1.92	0.51302	L	1.85	0.24841	T	-1.37	0.33998	N	0.354	0.39558	-1.0936	0.04959	T	0.045	0.19397	T	10	0.011371076	0.00249	T	0.00333	0.07421	T	0.025	0.05312	.	.	0.390060412749	0.38622	0.23575942146011358	0.23490	0.410785350422	0.41854	0.701834917068	0.67409	T	0.010532	0.09498	T	-0.395286	0.02486	T	-0.513428	0.20964	T	0.0708068311214447	0.08763	T	0.90081	0.65538	D	0.14646026	0.33526	0.11824492	0.28544	0.14646026	0.33525	0.11824492	0.28543	-5.383	0.40756	T	.	.	0.084	0.13644	B	.;.;.	.;.;.	3.092322	0.41643	21.4	0.76063755722947934	0.11319	0.95079	0.63361	D	AEFDGIJ	0.495006	0.53056	N	-0.0279954116684034	0.40591	2.413133	0.190832313781499	0.49344	3.138664	0.999999919526966	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.608524	0.38960	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	2.833000	0.47861	7.638000	0.63056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1298:0.7355:0.1347	12.031	0.52694	666	0.61362	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	731.06	34	chr15	76376173	.	G	T	731.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.727;DP=265;ExcessHet=0.4139;FS=0.752;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=0.209;SOR=0.821	GT:AD:DP:GQ:PL	0/1:40,16:56:99:349,0,1125	4	0	2	0
chr15	78025495	78025495	C	G	exonic	TBC1D2B	.	nonsynonymous SNV	TBC1D2B:NM_015079:exon5:c.G850C:p.V284L,TBC1D2B:NM_144572:exon5:c.G850C:p.V284L	.	443	1072	5	2	0	9	0.00418021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0029	0.0175719	0.0133	0.0016	0.0152	0.0868	0.0282	0.0064	0.0224	0.0031	0.0113065	1748	154602	rs78162825	0.0076	0.0075	0.0077	0.0075	0.0780	0.0075	0.0075	0.0757	0.0748	0.0011	0.0156	0.0018	0.0780	0.0261	0.0020	0.0045	0.0100	0.0037	0.0082	0.0082	0.0074	0.0090	0.0720	0.0078	0.0076	0.0660	0.0636	0.0013	0.0296	0.0091	0.0006	0.0720	0.0246	0	0.0052	0.0099	0.0029	0.295	0.14743	T	0.358	0.17166	T	0.0	0.02946	B	0.0	0.06944	B	0.089432	0.20428	N	0.547632	1	0.08975	N	0.85	0.21244	L	3.14	0.07920	T	-0.09	0.08340	N	0.036	0.01068	-0.9594	0.39293	T	0.002	0.00646	T	10	0.0013072789	0.00014	T	.	.	.	0.081	0.23632	0.041	0.00037	.	.	0.17463556954092851	0.17382	0.262192732783	0.28783	0.328629881144	0.14726	T	0.00291	0.02768	T	-0.693615	0.00040	T	-0.703162	0.05655	T	0.00757326381172157	0.00088	T	0.644736	0.25622	T	0.03274336	0.03357	0.03610186	0.02989	0.03274336	0.03356	0.03610186	0.02988	-3.169	0.12322	T	.	.	0.086	0.21987	B	.;.;.	.;.;.	1.027955	0.14078	10.65	0.915796467345807	0.20861	0.07433	0.13450	N	AEFBI	0.049559	0.08574	N	-0.758324555770469	0.14408	0.7174576	-0.723979710650468	0.16364	0.8653307	0.999625377689843	0.41093	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.39	0.972	0.18824	-0.064000	0.11593	0.160000	0.15395	-0.218000	0.08083	0.186000	0.24138	0.001000	0.17328	0.991000	0.66497	0.0:0.4555:0.1351:0.4094	5.968	0.18568	777	0.48198	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.007576	0.1667	572.06	23	chr15	78025495	.	C	G	572.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.508;DP=142;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.108;SOR=0.701	GT:AD:DP:GQ:PL	0/1:19,11:30:99:284,0,572	4	0	2	0
chr15	81319351	81319351	T	C	exonic	STARD5	.	nonsynonymous SNV	STARD5:NM_181900:exon4:c.A388G:p.I130V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0124853905124	0.0006	0.000199681	0.0006	0.0005	0.0018	0	0.0002	0.0006	0.0011	0.0005	0.0005304	82	154602	rs143662006	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	8.963e-05	0.0008	0	0	9.36e-05	0.0003	0.0007	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	6.533e-05	0	0	0	0.0034	0.0006	0.0014	0.0004	0.708	0.04069	T	0.656	0.06598	T	0.009	0.15093	B	0.035	0.22741	B	0.000366	0.45194	D	0.188519	0.789777	0.29239	N	1.9	0.50570	L	-1.14	0.77843	T	-0.41	0.14000	N	0.222	0.24883	-0.8271	0.53486	T	0.280	0.65219	T	10	0.02822408	0.00957	T	0.012485	0.31090	T	0.164	0.42212	.	.	0.480274617672	0.47656	0.38265672614642693	0.38180	0.1251482573	0.14108	0.408055126667	0.26188	T	0.010116	0.09163	T	-0.319159	0.06966	T	-0.334316	0.40987	T	0.00401589249432638	0.00043	T	0.741926	0.36121	T	0.091514565	0.21446	0.05982417	0.11294	0.091514565	0.21446	0.05982417	0.11293	-4.186	0.26548	T	.	.	0.074	0.04975	B	.	.	1.263467	0.16614	12.65	0.72067584920340289	0.09844	0.70015	0.34418	D	AEFBCI	0.140681	0.26265	N	-0.613915136344802	0.18526	0.9624994	-0.564755144033833	0.20415	1.099771	0.999790775542854	0.43153	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.95	1.16	0.19936	1.422000	0.34434	-0.011000	0.13060	0.609000	0.47794	0.996000	0.39380	0.891000	0.27831	0.954000	0.50415	0.1312:0.0:0.2842:0.5846	7.300	0.25587	889	0.27310	START domain|START domain|START 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	.	.	.	.	.	.	.	.	0.1667	2958.06	33	chr15	81319351	.	T	C	2958.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.976;DP=341;ExcessHet=0.4139;FS=1.808;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.643;SOR=0.549	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1313,0,1370	4	0	2	0
chr15	82345130	82345130	G	A	exonic	GOLGA6L10	.	nonsynonymous SNV	GOLGA6L10:NM_001164465:exon6:c.C730T:p.R244C,GOLGA6L10:NM_001322400:exon6:c.C730T:p.R244C	.	744	763	15	0	0	15	0.00973394	.	.	.	2333882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00501892893472	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200328108	0.0003	0.0013	0.0002	0.0004	0.0014	0.0003	0.0003	0.0007	0.0006	0.0014	6.54e-05	0.0002	0.0004	0.0002	0	0.0004	0.0005	0.0001	0.0010	0.0030	0.0011	0.0009	0.0035	0.0008	0.0008	0.0028	0.0026	0.0035	0.0012	0.0006	0.0014	0.0003	0.0004	0	0.0003	0	0.0003	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.051504552	0.05041	T	0.001461	0.02215	T	.	.	.	.	0.0297737177859	0.01360	0.030426935394265955	0.02991	.	.	.	.	.	0.150635	0.49020	T	-0.28982	0.09654	T	-0.654083	0.08670	T	.	.	.	0.234177	0.03217	T	0.05860465	0.11811	0.05212441	0.08525	0.05860465	0.11811	0.05212441	0.08524	-3.404	0.15110	T	.	.	0.134	0.29144	B	.	.	0.972778	0.13500	10.02	0.79052861391817675	0.12569	0.00259	0.01419	N	AEFI	0.079793	0.16123	N	.	.	.	.	.	.	4.68160811495497E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.594	-1.19	0.09091	-0.821000	0.04560	-3.786000	0.02538	-2.355000	0.00307	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5106:0.0:0.2277:0.2617	2.001	0.03256	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	40.9	83	chr15	82345130	.	G	A	40.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0;DP=445;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=42.3;MQRankSum=-0.967;QD=13.63;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:48:0|1:82345130_G_A:48,0,73:82345130	2	0	1	3
chr15	88871510	88871510	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon13:c.G6961A:p.V2321I,ACAN:NM_013227:exon14:c.G7075A:p.V2359I,ACAN:NM_001369268:exon15:c.G7189A:p.V2397I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	3	1516	2	1	0	4	0.00131752	.	.	YES	439186	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.00347553905536	0.0011	0.000199681	0.0008	0.0002	0.0006	0	0	0.0011	0.0012	0.0005	0.0007697	119	154602	rs150555123	0.0012	0.0012	0.0012	0.0012	0.0014	0.0012	0.0011	0.0014	0.0013	0.0003	0.0010	0.0005	0	7.512e-05	0.0002	0.0014	0.0012	0.0003	0.0009	0.0009	0.0010	0.0008	0.0020	0.0008	0.0007	0.0014	0.0012	0.0002	0	0.0020	0.0006	0	0	0	0.0014	0.0005	0	0.843	0.07071	T	0.781	0.06788	T	.	.	.	.	.	.	0.010616	0.29855	N	0.000000	0.999999	0.08975	N	.	.	.	2.32	0.16640	T	-0.39	0.13611	N	0.136	0.20660	-1.0024	0.29226	T	0.021	0.08917	T	10	0.019824654	0.00448	T	0.003476	0.07847	T	0.041	0.10877	.	.	0.0675242888579	0.06100	0.5396566820515746	0.53890	0.261733253027	0.28725	0.317637383938	0.13063	T	.	.	.	-0.686421	0.00044	T	-0.763388	0.02993	T	0.00835893870462146	0.00101	T	0.454355	0.15447	T	0.019203026	0.00447	0.029473625	0.01288	0.017440213	0.00272	0.027778026	0.00957	-2.405	0.07161	T	.	.	0.086	0.19800	B	.;.;.;.;.;.	.;.;.;.;.;.	0.245519	0.06252	2.707	0.97751645658308861	0.35745	0.20724	0.21145	N	AEFDBCI	0.094997	0.19200	N	-0.17876720219888	0.34020	1.936805	-0.126960422530195	0.34307	1.971984	0.785066180036367	0.23915	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.59	3.68	0.41359	0.206000	0.17174	0.415000	0.18155	-0.127000	0.13314	0.360000	0.25842	0.010000	0.20010	0.607000	0.31564	0.1699:0.3074:0.5227:0.0	5.737	0.17339	964	0.07719	C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-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	0.002541	0.000000	0.006812	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1483.06	33	chr15	88871510	.	G	A	1483.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.13;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.674;SOR=0.735	GT:AD:DP:GQ:PL	0/1:30,26:56:99:791,0,724	4	0	2	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4264.94	39	chr15	89776903	.	AGGGCAGGGGCAG	*	4264.94	.	AC=6;AF=0.5;AN=12;DP=215;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;QD=24.8;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,22:22:69:.:.:987,69,0:.	2	2	2	0
chr15	90765340	90765340	C	T	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon9:c.C2119T:p.P707S,BLM:NM_001287247:exon9:c.C2119T:p.P707S,BLM:NM_001287248:exon9:c.C994T:p.P332S,BLM:NM_001287246:exon10:c.C2119T:p.P707S	Bloom syndrome, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	132939	BLM-related_disorder|not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Bloom_syndrome	.|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.284	0.0184591890883	0.0016	0.000998403	0.0016	0.0004	0.0016	0	0.0003	0.0022	0.0022	0.0012	0.00174	269	154602	rs146077918	0.0020	0.0020	0.0020	0.0021	0.0023	0.0020	0.0019	0.0022	0.0022	0.0004	0.0018	0.0009	2.52e-05	0.0004	0.0021	0.0023	0.0019	0.0016	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0014	0.0023	0.0022	0.0003	0.0044	0.0029	0.0012	0	0.0003	0	0.0026	0.0019	0.0010	0.095	0.31235	T	0.323	0.27679	T	0.018	0.17786	B	0.047	0.24832	B	0.000065	0.52346	D	0.168793	0.999987	0.54805	D	0.98	0.24916	L	-0.97	0.75670	T	-4.41	0.79659	D	0.153	0.19459	-0.8053	0.54831	T	0.226	0.59007	T	10	0.014493585	0.00305	T	0.018459	0.40531	T	0.284	0.60219	.	.	0.864008763442	0.86269	0.5265579632617995	0.52579	0.102639998988	0.11614	0.454432964325	0.32550	T	0.228798	0.59444	T	-0.294338	0.09205	T	-0.194619	0.55155	T	0.0430593173252616	0.04249	T	0.950905	0.81262	D	0.32163432	0.54777	0.41443408	0.65587	0.42169252	0.62205	0.435562	0.67038	-6.941	0.53602	T	0.14693495229786818	0.16988	0.082	0.18622	B	.;.	.;.	2.618897	0.34026	19.51	0.99203767697127287	0.55351	0.93001	0.57076	D	AEFBI	0.468795	0.51545	N	-0.160683240991684	0.34782	1.989516	0.0668568496794711	0.42895	2.602599	0.999999981836099	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	1.661000	0.37024	3.975000	0.40857	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.123	0.86585	636	0.64483	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	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.1667	917.06	33	chr15	90765340	.	C	T	917.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.901;DP=200;ExcessHet=0.4139;FS=1.821;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.701;SOR=0.481	GT:AD:DP:GQ:PL	0/1:20,25:45:99:597,0,524	4	0	2	0
chr15	90876318	90876318	C	T	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon3:c.C241T:p.R81C,FURIN:NM_001289824:exon3:c.C241T:p.R81C,FURIN:NM_001382619:exon3:c.C241T:p.R81C,FURIN:NM_001382620:exon3:c.C241T:p.R81C,FURIN:NM_001382621:exon3:c.C241T:p.R81C,FURIN:NM_001382622:exon3:c.C241T:p.R81C,FURIN:NM_002569:exon3:c.C241T:p.R81C	.	364	1140	17	1	0	19	0.00826446	.	.	.	2814491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0023	0.00199681	0.0027	0.0002	0.0043	0	0	0.0040	0.0022	0.0005	0.0025226	390	154602	rs148110342	0.0019	0.0019	0.0018	0.0020	0.0187	0.0018	0.0018	0.0159	0.0148	0.0006	0.0041	0.0440	0.0003	1.883e-05	0.0187	0.0009	0.0046	0.0005	0.0023	0.0023	0.0022	0.0023	0.0059	0.0021	0.0020	0.0050	0.0046	0.0004	0	0.0059	0.0409	0.0002	0	0	0.0011	0.0076	0.0006	0.07	0.46513	T	0.174	0.70582	T	0.989	0.62824	D	0.586	0.50343	P	0.050699	0.23048	N	0.447962	0.999957	0.52396	D	2.535	0.73915	M	1.45	0.32482	T	-2.77	0.85921	D	0.398	0.43899	-0.9372	0.43057	T	0.094	0.35604	T	10	0.00404045	0.00079	T	.	.	.	0.144	0.38394	.	.	0.561097471998	0.55770	0.6000992533537909	0.59940	1.53222317347	0.87605	0.355705976486	0.18759	T	0.548407	0.84664	D	-0.417001	0.01788	T	-0.373875	0.36436	T	0.0450712634716505	0.04615	T	0.756024	0.48387	T	0.397754	0.60576	0.2696546	0.52848	0.397754	0.60577	0.2696546	0.52847	-9.266	0.69394	D	.	.	0.235	0.49078	B	.;.;.;.	.;.;.;.	5.478016	0.91348	32	0.99817111299830841	0.90061	0.81348	0.40770	D	AEFDGBCI	0.461300	0.51112	N	0.12144743292192	0.47464	2.971798	0.0456702509744604	0.41862	2.522201	0.999963247579836	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.58	3.67	0.41236	1.852000	0.38988	3.185000	0.36675	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.996000	0.76049	0.0:0.9142:0.0:0.0858	11.108	0.47436	702	0.57624	Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.010101	0.025815	0.038012	0.050000	0.017241	0.018293	0.003788	0.1667	1779.06	33	chr15	90876318	.	C	T	1779.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=265;ExcessHet=0.4139;FS=1.485;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-0.239;SOR=0.529	GT:AD:DP:GQ:PL	0/1:31,29:60:99:832,0,876	4	0	2	0
chr15	99105891	99105891	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon1:c.C692T:p.A231V,SYNM:NM_145728:exon1:c.C692T:p.A231V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	.	.	0.00379393	0.0444	0	.	0.3571	.	0	0.25	0.0161	0.0005175	80	154602	rs531355545	0.0003	0.0003	0.0003	0.0003	0.0115	0.0003	0.0003	0.0106	0.0102	0	0	0	0.0115	0	0	5.567e-06	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	0.0137	0.0004	0.0003	0.0111	0.0101	0	0	0	0	0.0137	0	0	1.477e-05	0	0.0002	0.126	0.27194	T	0.135	0.34124	T	0.836	0.46303	P	0.455	0.46267	P	.	.	.	.	1	0.19363	N	.	.	.	-2.41	0.88689	D	-1.27	0.36586	N	0.337	0.40665	-0.3262	0.74246	T	0.590	0.85316	D	9	0.0013459623	0.00015	T	.	.	.	0.392	0.70764	.	.	.	.	0.24266122982553778	0.24180	0.560577814504	0.52574	0.786938786507	0.79977	T	0.424972	0.77523	T	-0.38515	0.02890	T	-0.182197	0.56319	T	0.0740906982124328	0.09214	T	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33823	B	.;.;.	.;.;.	3.983064	0.58568	24.0	0.99636948325186692	0.76387	0.05780	0.11713	N	ALL	.	.	.	0.0239212475639864	0.42945	2.597198	-0.0201062591392396	0.38807	2.291743	0.999999999987787	0.74766	0.623204	0.39778	0	0.552344	0.17405	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	4.29	2.15	0.26590	0.917000	0.28286	3.153000	0.36534	0.518000	0.23583	0.208000	0.24400	0.997000	0.33255	0.909000	0.44452	0.1719:0.5751:0.149:0.104	3.757	0.08114	982	0.03397	.;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	.	.	.	.	.	.	.	.	0.1667	353.06	40	chr15	99105891	.	C	T	353.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.75;DP=156;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=1.18;SOR=0.693	GT:AD:DP:GQ:PL	0/1:17,5:22:99:105,0,435	4	0	2	0
chr16	58401	58401	G	T	exonic	RHBDF1	.	nonsynonymous SNV	RHBDF1:NM_022450:exon18:c.C2507A:p.T836N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0146389803185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.05755	T	0.96	0.02548	T	0.167	0.28604	B	0.07	0.27859	B	0.000000	0.84330	N	0.049420	1	0.81001	D	1.175	0.29870	L	0.84	0.47477	T	1.35	0.00889	N	0.853	0.84922	-1.0427	0.16503	T	0.094	0.35631	T	10	0.450723	0.58681	T	0.014639	0.34889	T	0.182	0.45420	0.404	0.43573	0.558966020747	0.55556	0.9459296857039559	0.94574	1.13984766701	0.78886	0.774258375168	0.78063	T	0.01876	0.15068	T	-0.0438528	0.45374	T	-0.300768	0.44644	T	0.600715339183807	0.36429	D	0.923508	0.72088	D	0.291607	0.52142	0.21261644	0.45738	0.291607	0.52142	0.21261644	0.45737	-5.794	0.44522	T	.	.	0.393	0.59199	A	.	.	4.172970	0.62756	24.5	0.87652278567074327	0.17382	0.95078	0.63357	D	AEFGBCI	0.931338	0.92000	D	-0.0323485830046644	0.40393	2.398098	0.156395647056175	0.47483	2.977737	0.999999999999976	0.74766	0.67177	0.52595	0	0.379588	0.06130	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.07	5.07	0.68106	7.795000	0.84442	11.792000	0.96402	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.790	0.88459	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	120.83	34	chr16	58401	.	G	T	120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.031;DP=300;ExcessHet=0;FS=73.651;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=-0.617;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,18:122:99:0|1:58400_G_T:131,0,3947:58400	5	0	1	0
chr16	870792	870792	C	T	exonic	LMF1	.	nonsynonymous SNV	LMF1:NM_001352019:exon8:c.G842A:p.R281K,LMF1:NM_001352020:exon8:c.G1169A:p.R390K,LMF1:NM_001352021:exon8:c.G518A:p.R173K,LMF1:NM_022773:exon8:c.G1169A:p.R390K,LMF1:NM_001352017:exon9:c.G518A:p.R173K,LMF1:NM_001352018:exon9:c.G770A:p.R257K	Lipase deficiency, combined, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00333117436744	.	.	8.372e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs751552083	6.847e-07	6.841e-07	1.362e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.09746	T	0.609	0.17064	T	0.001	0.07471	B	0.003	0.08700	B	0.375752	0.13461	N	0.742304	0.999959	0.19072	N	0.675	0.16386	N	2.03	0.20959	T	-1.38	0.34795	N	0.151	0.15469	-1.0002	0.29860	T	0.022	0.09421	T	10	0.37508142	0.53770	T	0.003331	0.07421	T	0.092	0.26621	0.721	0.85585	0.107399877778	0.10242	0.5329121802128247	0.53216	0.0194653818136	0.01906	0.193875089288	0.00301	T	0.03659	0.24160	T	-0.422762	0.01643	T	-0.762179	0.03035	T	0.0423868241771253	0.04125	T	0.744825	0.36507	T	0.054414466	0.10438	0.053012237	0.08847	0.054414466	0.10437	0.053012237	0.08846	-4.664	0.34452	T	.	.	0.082	0.22500	B	.;.;.	.;.;.	-1.122890	0.00614	0.016	0.6149820472801919	0.06724	0.03284	0.08331	N	AEFBI	0.070489	0.13996	N	-1.94500570023666	0.00277	0.01187845	-2.06326446650796	0.00224	0.009872192	0.998549557068887	0.37167	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.48	-11.0	0.00133	-2.223000	0.01297	-4.235000	0.02266	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0875:0.5563:0.0947:0.2614	9.560	0.38527	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1730.83	34	chr16	870792	.	C	T	1730.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.494;DP=310;ExcessHet=0;FS=1.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.43;SOR=0.582	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1741,0,1575	5	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2638.05	74	chr16	1397277	.	A	*	2638.05	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.44;DP=305;ExcessHet=0.2119;FS=2.154;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.99;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,17:50:99:0|1:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:465,0,1191:1397263	3	1	1	1
chr16	2264278	2264278	C	T	exonic	RNPS1	.	nonsynonymous SNV	RNPS1:NM_001286626:exon2:c.G56A:p.R19H,RNPS1:NM_001286627:exon2:c.G56A:p.R19H,RNPS1:NM_001286625:exon3:c.G125A:p.R42H,RNPS1:NM_006711:exon3:c.G125A:p.R42H,RNPS1:NM_080594:exon3:c.G125A:p.R42H	.	.	.	.	.	.	.	.	.	.	.	3906015	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0224637347743	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs371866900	2.052e-05	2.052e-05	1.906e-05	2.2e-05	2.248e-05	1.456e-05	1.264e-05	1.543e-05	1.304e-05	0	0	3.826e-05	0	0	0	2.248e-05	6.623e-05	0	3.286e-05	3.284e-05	2.57e-05	4.036e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.414e-05	0	0	0	0	0	0	5.88e-05	0	0	0.004	0.91255	D	0.124	0.92824	T	0.995	0.70673	D	0.964	0.76113	D	0.000001	0.84330	D	0.053655	0.999998	0.81001	D	2.215	0.62545	M	3.26	0.09635	T	-1.38	0.82341	N	0.56	0.58713	-1.1819	0.00342	T	0.073	0.29610	T	10	0.36009577	0.52662	T	0.022464	0.45362	T	0.153	0.40148	0.349	0.34598	0.511085392132	0.50748	0.25887386869919055	0.25801	0.578992520332	0.53787	0.868625223637	0.92371	D	0.107706	0.49407	T	-0.0511597	0.44270	T	-0.247618	0.50053	T	0.724794745445251	0.41942	D	0.959904	0.90741	D	0.37403104	0.58881	0.15459605	0.36275	0.37403104	0.58882	0.15459605	0.36275	-6.338	0.54252	T	.	.	0.347	0.75042	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.334599	0.66445	25.0	0.99947678643767435	0.99923	0.96819	0.71109	D	AEFBHCI	0.713125	0.66603	D	0.772533592891677	0.84361	8.266738	0.760160750971382	0.86913	9.044747	0.999999999999766	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	5.557000	0.67018	7.615000	0.62066	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.303	0.87074	546	0.72524	.;.;.;.;.;.;.;.;.;.;.;.;REJ domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1562.83	37	chr16	2264278	.	C	T	1562.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.43;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.18;SOR=0.676	GT:AD:DP:GQ:PL	0/1:76,62:138:99:1573,0,1734	5	0	1	0
chr16	2765312	2765312	G	A	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.G4784A:p.R1595H	.	428	1058	34	2	0	38	0.0176416	.	.	.	797296	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00368844062729	7.7e-05	0.000998403	0.0014	9.643e-05	0.0005	0	0	0.0005	0.0033	0.0079	0.0012225	189	154602	rs200200979	0.0008	0.0008	0.0005	0.0010	0.0085	0.0007	0.0007	0.0079	0.0077	0.0003	0.0003	0.0023	0	0	0.0042	0.0002	0.0013	0.0085	0.0005	0.0005	0.0004	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	0.0003	0	0.0001	0.0017	0	0	0	0.0002	0	0.0077	.	.	.	0.081	0.41742	T	0.002	0.09854	B	0.001	0.04355	B	0.020652	0.26995	N	0.323172	0.999999	0.08975	N	0.41	0.12415	N	1.54	0.30133	T	-0.7	0.19933	N	0.142	0.14196	-1.0345	0.19014	T	0.060	0.25127	T	10	0.0046723187	0.00098	T	0.003688	0.08527	T	0.026	0.05648	.	.	0.146414634003	0.14194	0.1364431615838375	0.13568	.	.	0.271656274796	0.06358	T	0.190352	0.54487	T	-0.609197	0.00128	T	-0.642718	0.09472	T	0.00358669416451388	0.00038	T	0.749925	0.37107	T	0.12951244	0.30247	0.051445775	0.08282	0.12951244	0.30247	0.051445775	0.08282	-5.79	0.44487	T	.	.	0.073	0.04681	B	.	.	1.644181	0.20984	15.00	0.85531461500215655	0.15951	0.54103	0.29534	D	AEFDGBCI	0.115013	0.22631	N	-0.707000716701725	0.15825	0.8009362	-0.710117507493587	0.16709	0.8851789	0.999994791410171	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.38	2.24	0.27264	-0.049000	0.11879	0.420000	0.18209	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.0811:0.0:0.6122:0.3067	7.373	0.25986	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0.008152	0.002924	0.000000	0.000000	0.000000	0.022727	0.1667	6495.06	235	chr16	2765312	.	G	A	6495.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=710;ExcessHet=0.4139;FS=1.75;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.301;SOR=0.566	GT:AD:DP:GQ:PL	0/1:99,121:220:99:3362,0,2372	4	0	2	0
chr16	3067563	3067563	A	C	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A64C:p.I22L,IL32:NM_001308078:exon3:c.A202C:p.I68L,IL32:NM_001369587:exon3:c.A202C:p.I68L,IL32:NM_001369588:exon3:c.A202C:p.I68L,IL32:NM_001369593:exon3:c.A34C:p.I12L,IL32:NM_001369596:exon3:c.A64C:p.I22L,IL32:NM_001012632:exon4:c.A64C:p.I22L,IL32:NM_001012633:exon4:c.A64C:p.I22L,IL32:NM_001012718:exon4:c.A64C:p.I22L,IL32:NM_001369590:exon4:c.A64C:p.I22L,IL32:NM_001376923:exon4:c.A64C:p.I22L,IL32:NM_004221:exon4:c.A64C:p.I22L,IL32:NM_001012631:exon5:c.A64C:p.I22L,IL32:NM_001369589:exon5:c.A64C:p.I22L	.	423	1089	9	1	0	11	0.00502513	.	.	.	703636	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0067	0.00778754	0.0034	0.0200	0.0022	0	0	0.0003	0.0011	0.0094	0.0030659	474	154602	rs115923319	0.0012	0.0012	0.0010	0.0013	0.0201	0.0011	0.0011	0.0188	0.0183	0.0201	0.0016	3.827e-05	2.519e-05	5.617e-05	0.0089	0.0002	0.0022	0.0074	0.0064	0.0064	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0024	0	0.0002	0	0.0068	0.0004	0.0062	0.0071	0.265	0.19854	T	0.245	0.37310	T	0.001	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.53	0.70833	T	-1.13	0.30762	N	0.097	0.15469	-1.0899	0.05549	T	0.059	0.24539	T	9	0.004904866	0.00105	T	.	.	.	0.102	0.29158	0.222	0.14518	0.390531646278	0.38663	0.010596329033309461	0.01020	0.105508220992	0.11931	0.523488879204	0.42117	T	0.010799	0.17609	T	-0.502614	0.00553	T	-0.479152	0.24537	T	0.0043021059021059	0.00046	T	0.321768	0.07383	T	0.1319177	0.30733	0.053210147	0.08918	0.1319177	0.30733	0.053210147	0.08918	-2.472	0.06719	T	.	.	0.201	0.48551	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.463912	0.00317	0.005	0.63556436416830986	0.07255	0.00704	0.02988	N	AEFDBHCI	0.043939	0.07006	N	-2.13589654018943	0.00107	0.004562166	-2.22062230557729	0.00101	0.00441848	0.999999905074155	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-3.797000	0.00409	.	.	-4.398000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3531:0.1285:0.3057:0.2127	0.564	0.00639	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1915.06	40	chr16	3067563	.	A	C	1915.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=291;ExcessHet=0.4139;FS=0.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.261;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,20:61:99:0|1:3067563_A_C:686,0,1622:3067563	4	0	2	0
chr16	3067569	3067569	A	G	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A70G:p.R24G,IL32:NM_001308078:exon3:c.A208G:p.R70G,IL32:NM_001369587:exon3:c.A208G:p.R70G,IL32:NM_001369588:exon3:c.A208G:p.R70G,IL32:NM_001369593:exon3:c.A40G:p.R14G,IL32:NM_001369596:exon3:c.A70G:p.R24G,IL32:NM_001012632:exon4:c.A70G:p.R24G,IL32:NM_001012633:exon4:c.A70G:p.R24G,IL32:NM_001012718:exon4:c.A70G:p.R24G,IL32:NM_001369590:exon4:c.A70G:p.R24G,IL32:NM_001376923:exon4:c.A70G:p.R24G,IL32:NM_004221:exon4:c.A70G:p.R24G,IL32:NM_001012631:exon5:c.A70G:p.R24G,IL32:NM_001369589:exon5:c.A70G:p.R24G	.	425	1088	8	1	0	10	0.00457457	.	.	.	703637	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0064	0.00778754	0.0034	0.0200	0.0022	0	0	0.0003	0.0011	0.0092	0.0030401	470	154602	rs144473418	0.0012	0.0012	0.0010	0.0013	0.0201	0.0011	0.0011	0.0188	0.0183	0.0201	0.0016	3.826e-05	2.519e-05	5.618e-05	0.0090	0.0002	0.0022	0.0072	0.0064	0.0065	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0025	0	0.0002	0	0.0068	0.0004	0.0062	0.0071	0.156	0.91255	T	0.087	0.55341	T	0.183	0.32836	B	0.026	0.32387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.77	0.73739	T	-2.37	0.60827	N	0.194	0.22614	-1.0153	0.25240	T	0.077	0.30706	T	9	0.004132837	0.00081	T	.	.	.	0.119	0.33137	.	.	0.378847511475	0.37492	0.010607139295363157	0.01021	0.175847818237	0.19797	0.390299320221	0.23711	T	0.050373	0.33924	T	-0.376526	0.03276	T	-0.298034	0.44933	T	0.00376691452627779	0.00040	T	0.545245	0.18642	T	0.1457299	0.33392	0.11142638	0.26879	0.1457299	0.33392	0.11142638	0.26878	-3.203	0.20745	T	.	.	0.142	0.50343	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.276816	0.00458	0.010	0.72752288557336842	0.10083	0.00562	0.02559	N	AEFDBHCI	0.036607	0.04905	N	-1.53367403772781	0.01632	0.07137679	-1.65117491242315	0.01370	0.06187062	0.999995198190136	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-2.005000	0.01549	.	.	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4103:0.3972:0.1926:0.0	3.881	0.08582	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1850.06	40	chr16	3067569	.	A	G	1850.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.789;DP=283;ExcessHet=0.4139;FS=1.435;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.605;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,19:58:99:0|1:3067563_A_C:660,0,1573:3067563	4	0	2	0
chr16	3067576	3067576	A	G	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A77G:p.Y26C,IL32:NM_001308078:exon3:c.A215G:p.Y72C,IL32:NM_001369587:exon3:c.A215G:p.Y72C,IL32:NM_001369588:exon3:c.A215G:p.Y72C,IL32:NM_001369593:exon3:c.A47G:p.Y16C,IL32:NM_001369596:exon3:c.A77G:p.Y26C,IL32:NM_001012632:exon4:c.A77G:p.Y26C,IL32:NM_001012633:exon4:c.A77G:p.Y26C,IL32:NM_001012718:exon4:c.A77G:p.Y26C,IL32:NM_001369590:exon4:c.A77G:p.Y26C,IL32:NM_001376923:exon4:c.A77G:p.Y26C,IL32:NM_004221:exon4:c.A77G:p.Y26C,IL32:NM_001012631:exon5:c.A77G:p.Y26C,IL32:NM_001369589:exon5:c.A77G:p.Y26C	.	424	1089	8	1	0	10	0.00457038	.	.	.	703638	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.189	.	0.0068	0.00778754	0.0034	0.0201	0.0022	0	0	0.0004	0.0011	0.0092	0.0030595	473	154602	rs147775375	0.0012	0.0012	0.0010	0.0013	0.0202	0.0011	0.0011	0.0189	0.0184	0.0202	0.0016	3.826e-05	2.519e-05	5.621e-05	0.0092	0.0002	0.0022	0.0071	0.0064	0.0065	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0025	0	0.0002	0	0.0068	0.0004	0.0062	0.0070	0.088	0.54683	T	0.173	0.35710	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	2.08	0.15178	N	0.085	0.13769	-1.0612	0.11459	T	0.074	0.30023	T	9	0.004234284	0.00085	T	.	.	.	0.189	0.46613	.	.	0.386395597597	0.38251	0.007375380469582911	0.00703	0.134618601746	0.15165	0.446694374084	0.31493	T	0.001407	0.02473	T	-0.408003	0.02050	T	-0.343249	0.39976	T	0.00493061331323631	0.00053	T	0.478252	0.14398	T	0.086131394	0.20007	0.053205363	0.08918	0.086131394	0.20006	0.053205363	0.08918	-3.587	0.22617	T	.	.	0.047	0.05890	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.894114	0.00128	0.002	0.20446156828209749	0.00735	0.00131	0.00809	N	AEFDBHCI	0.038229	0.05380	N	-2.21145322574567	0.00072	0.003088292	-2.28019881074111	0.00074	0.003230598	0.999998170551876	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-3.380000	0.00545	.	.	-2.787000	0.00188	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1338:0.1319:0.3687:0.3656	1.730	0.02753	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1723.06	40	chr16	3067576	.	A	G	1723.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.578;DP=279;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.275;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,18:57:99:0|1:3067563_A_C:618,0,1558:3067563	4	0	2	0
chr16	3138428	3138428	C	T	exonic	ZNF213	.	nonsynonymous SNV	ZNF213:NM_001134655:exon3:c.C410T:p.S137L,ZNF213:NM_004220:exon3:c.C410T:p.S137L	.	414	1104	4	0	0	4	0.00180832	.	.	.	3350160	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0137351387812	0.0002	.	3.361e-05	0.0002	8.655e-05	0	0	0	0	6.121e-05	3.88e-05	6	154602	rs369876326	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.238e-05	1.052e-05	4.366e-05	2.772e-05	2.989e-05	0.0001	0	0	0	0.0002	1.259e-05	4.971e-05	2.32e-05	7.883e-05	7.88e-05	0.0001	5.379e-05	0.0001	4.496e-05	3.511e-05	4.737e-05	3.052e-05	0.0001	0	0.0001	0	0	0	0	7.351e-05	0	0	0.332	0.13045	T	0.646	0.30729	T	0.026	0.19406	B	0.005	0.11217	B	0.909730	0.08561	N	0.943428	0.979482	0.25178	N	0	0.06538	N	3.47	0.08721	T	-1.2	0.30555	N	0.296	0.33469	-0.8987	0.48125	T	0.009	0.03011	T	10	0.063832045	0.08374	T	0.013735	0.33353	T	0.035	0.08770	.	.	0.311691414656	0.30774	0.26786186484649577	0.26699	0.151551425514	0.17104	0.451345205307	0.32128	T	0.044855	0.26942	T	-0.482567	0.00715	T	-0.651515	0.08848	T	0.024008646607399	0.01147	T	0.214779	0.34027	T	0.053887814	0.10264	0.03413746	0.02429	0.053887814	0.10263	0.03413746	0.02428	-3.57	0.17424	T	.	.	0.155	0.34205	B	.;.;.;.;.;.	.;.;.;.;.;.	2.186009	0.27867	17.61	0.99078848100084993	0.51906	0.22669	0.21824	N	AEFDBI	0.347623	0.44203	N	-0.963936129759143	0.09383	0.4438104	-0.835856474178337	0.13628	0.7079948	0.023629292656724	0.13521	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.528226	0.09195	0	.	.	5.43	0.96	0.18753	0.012000	0.13184	.	.	-0.193000	0.09282	0.007000	0.17678	0.986000	0.30841	0.813000	0.38311	0.3266:0.4958:0.0:0.1776	3.992	0.09030	749	0.51929	SCAN domain;SCAN domain;SCAN domain;SCAN domain;SCAN domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1215.06	33	chr16	3138428	.	C	T	1215.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.102;DP=227;ExcessHet=0.4139;FS=4.032;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=1.3;SOR=1.035	GT:AD:DP:GQ:PL	0/1:26,30:56:99:766,0,621	4	0	2	0
chr16	4893233	4893233	C	T	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon14:c.G1630A:p.E544K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0571487068551	0.0005	0.000399361	0.0022	0.0004	0.0016	0	0.0063	0.0042	0	0	0.000705	109	154602	rs139608681	0.0008	0.0009	0.0008	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	6.064e-05	0.0004	0.0009	2.596e-05	0.0013	0	0.0009	0.0011	1.202e-05	0.0007	0.0007	0.0007	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	0.0001	0	0.0008	0.0012	0	0.0007	0	0.0012	0	0	0.301	0.14449	T	0.106	0.37872	T	0.858	0.47274	P	0.137	0.33328	B	0.000046	0.53742	D	0.122950	0.992066	0.41545	D	2.24	0.63355	M	-0.39	0.69158	T	-0.59	0.17624	N	0.559	0.61341	-0.7734	0.56670	T	0.199	0.55428	T	10	0.015195042	0.00319	T	0.057149	0.66863	D	0.314	0.63588	.	.	0.81560881684	0.81387	0.2695075998621024	0.26863	0.0397582316544	0.04249	0.534148514271	0.43619	T	0.168022	0.51487	T	-0.273828	0.11334	T	-0.185126	0.56046	T	0.0467045642435551	0.04911	T	0.942106	0.78341	D	0.15465438	0.34994	0.14155057	0.33705	0.15465438	0.34993	0.14155057	0.33704	-5.087	0.37769	T	.	.	0.114	0.24566	B	.;.	.;.	2.778702	0.36494	20.3	0.99448781842989287	0.65172	0.97879	0.77817	D	AEFDBI	0.817622	0.73907	D	-0.009782270191304	0.41411	2.476524	-0.0113628122296573	0.39201	2.320701	0.999695830116385	0.41870	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.07	4.1	0.47196	5.830000	0.69016	2.819000	0.34952	0.597000	0.34315	1.000000	0.71638	0.995000	0.32472	0.003000	0.05239	0.0:0.8606:0.1394:0.0	15.457	0.75050	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	.	.	.	.	.	.	.	.	0.1667	1088.06	26	chr16	4893233	.	C	T	1088.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=204;ExcessHet=0.4139;FS=4.256;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.095;SOR=1.19	GT:AD:DP:GQ:PL	0/1:19,17:36:99:478,0,454	4	0	2	0
chr16	5028114	5028114	G	A	exonic	NAGPA	.	nonsynonymous SNV	NAGPA:NM_016256:exon6:c.C992T:p.P331L	.	426	1093	3	0	0	3	0.00137049	.	.	.	2283765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.465	0.0755380049466	.	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001358	21	154602	rs757866039	6.386e-05	6.498e-05	5.873e-05	6.905e-05	0.0005	5.315e-05	4.93e-05	0.0002	0.0001	0	0	0	0	5.688e-05	0.0005	5.858e-05	0	0.0003	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.004	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.58	0.39772	L	2.93	0.09822	T	-7.6	0.95336	D	0.549	0.57518	-1.0424	0.16592	T	0.086	0.33382	T	10	0.6087973	0.67326	D	0.075538	0.72313	D	0.465	0.76089	0.561	0.68093	0.654857447642	0.65197	0.7144575315481317	0.71388	0.133370945786	0.15016	0.534954965115	0.43733	T	0.790135	0.94539	D	-0.210332	0.19332	T	-0.232487	0.51531	T	0.41960705000205	0.29676	T	0.822018	0.51465	T	0.53463805	0.69094	0.49103072	0.70556	0.53463805	0.69095	0.49103072	0.70556	-7.474	0.57427	T	.	.	0.127	0.27069	B	.;.	.;.	4.824783	0.78622	26.9	0.99895326338464108	0.96819	0.96562	0.69761	D	AEFDBCI	0.935273	0.92990	D	0.710283183995968	0.80308	7.265361	0.635307216562467	0.77523	6.695387	0.999999999999886	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.36	4.36	0.51643	8.002000	0.88029	8.540000	0.77489	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.201000	0.21925	0.0:0.0:1.0:0.0	16.908	0.86002	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	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1772.83	39	chr16	5028114	.	G	A	1772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=363;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-3.443;SOR=0.724	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1783,0,1368	5	0	1	0
chr16	11166443	11166443	G	C	exonic	CLEC16A	.	nonsynonymous SNV	CLEC16A:NM_015226:exon22:c.G2697C:p.Q899H	.	425	1088	7	2	0	11	0.00502972	.	.	.	3944574	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.013814453961	.	.	0.0001	0	0	0	0	1.513e-05	0	0.0010	0.00011	17	154602	rs201236598	0.0001	0.0001	7.115e-05	0.0001	0.0011	8.956e-05	8.438e-05	0.0009	0.0008	0	0	0.0002	2.52e-05	0	0.0007	3.148e-05	0.0002	0.0011	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0006	2.107e-05	1.526e-05	0.0002	8.985e-05	0	0	6.533e-05	0.0003	0	0	0.0034	1.47e-05	0	0.0006	0.19	0.21144	T	0.128	0.34959	T	0.118	0.26577	B	0.054	0.25828	B	0.000110	0.50451	D	0.177321	1	0.26763	N	0	0.06538	N	0.93	0.44065	T	-0.43	0.14390	N	0.246	0.27792	-1.0559	0.12803	T	0.028	0.12190	T	10	0.014883846	0.00313	T	0.013814	0.33491	T	0.151	0.39764	0.161	0.06507	0.0482279557977	0.04254	0.32557027988222903	0.32470	0.190173576988	0.21337	0.411003142595	0.26595	T	0.056295	0.30247	T	-0.46678	0.00891	T	-0.488826	0.23515	T	0.0149342223437648	0.00318	T	0.813419	0.46649	T	0.07920763	0.18082	0.049899105	0.07721	0.07920763	0.18081	0.049899105	0.07720	-3.967	0.23308	T	.	.	0.081	0.08465	B	.	.	0.095292	0.04978	1.542	0.87206860694675259	0.17063	0.06885	0.12910	N	AEFBI	0.055793	0.10261	N	-1.10225195127983	0.06603	0.3044307	-1.28924246405771	0.04575	0.2161134	0.999997465288731	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.97	-9.94	0.00371	-0.753000	0.04897	-3.481000	0.02754	0.676000	0.76740	0.161000	0.23811	0.000000	0.08366	0.746000	0.35646	0.4849:0.3005:0.1148:0.0999	3.790	0.08235	833	0.38804	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2591.06	36	chr16	11166443	.	G	C	2591.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.469;DP=377;ExcessHet=0.4139;FS=5.465;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.09;SOR=1.041	GT:AD:DP:GQ:PL	0/1:64,46:110:99:1131,0,1700	4	0	2	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9020.01	118	chr16	11927475	.	G	*	9020.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.58;DP=719;ExcessHet=0.7136;FS=1.927;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.01;SOR=0.908	GT:AD:DP:GQ:PL	0/1:73,61:134:99:2136,0,2784	4	0	2	0
chr16	11927632	11927688	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.357_413del:p.D120_A138del	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0035	0.0007	0	0.0002	0.0002	0.0023	0.0051	3.84e-05	1	26028	.	0.0008	0.0013	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0.0039	0.0007	0.0002	0	0.0002	0.0026	0.0002	0.0011	0.0076	0.0033	0.0045	0.0030	0.0035	0.0145	0.0030	0.0029	0.0118	0.0108	0.0089	0	0.0015	0.0003	0	9.495e-05	0.0068	0.0005	0.0010	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	766.03	34	chr16	11927631	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	766.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.18;DP=699;ExcessHet=0.4139;FS=13.299;MLEAC=2;MLEAF=0.167;MQ=53.8;MQRankSum=3.31;QD=1.99;ReadPosRankSum=3.99;SOR=1.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:180,20:200:99:.:.:331,0,7357:.	4	0	2	0
chr16	11927664	11927664	G	0	exonic	NPIPB2	.	.	.	.	429	931	151	0	11	162	0.0750124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.0	34	chr16	11927664	.	G	*	32.0	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.82;DP=572;ExcessHet=0.4139;FS=10.107;MLEAC=1;MLEAF=0.083;MQ=53.11;MQRankSum=-3.93;QD=0.09;ReadPosRankSum=-1.173;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:137,20:177:99:.:.:338,0,6332:.	5	0	1	0
chr16	15363771	15363771	G	T	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.C941A:p.T314N	.	475	1024	12	0	11	23	0.00582524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.114018	0.0009	0.0011	0.0014	0	0.0012	0.0011	0	0.0003	0.0039391	609	154602	rs200515084	0.0020	0.0054	0.0018	0.0022	0.0072	0.0019	0.0019	0.0066	0.0063	0.0014	0.0052	0.0026	0.0050	0.0060	0.0033	0.0014	0.0026	0.0072	0.0008	0.0027	0.0010	0.0006	0.0011	0.0007	0.0006	0.0008	0.0007	0.0011	0	0.0011	0.0006	0	0.0005	0	0.0008	0	0	0.285	0.15251	T	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.85	0.47130	T	-2.07	0.47344	N	0.108	0.09349	-1.0053	0.28368	T	0.093	0.35309	T	4	0.0035369694	0.00063	T	.	.	.	0.007	0.00512	.	.	0.110392049598	0.10638	0.007541486687279335	0.00720	1.79356630944	0.91544	.	.	.	0.013126	0.11410	T	-0.27517	0.11187	T	-0.633039	0.10185	T	0.00805360874408913	0.00095	T	0.210079	0.02530	T	0.12149424	0.28567	0.11801673	0.28489	0.12149424	0.28567	0.11801673	0.28489	-7.548	0.57947	D	.	.	0.159	0.35225	B	.	.	-0.040532	0.04009	0.916	0.70897096200238796	0.09447	0.00197	0.01136	N	AEFDI	0.038230	0.05380	N	-0.517686941128063	0.21508	1.141931	-0.658970331887041	0.17990	0.959092	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.271000	0.02936	-4.566000	0.02092	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	606.9	196	chr16	15363771	.	G	T	606.9	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.06;DP=1076;ExcessHet=0;FS=24.786;MLEAC=1;MLEAF=0.167;MQ=56.44;MQRankSum=-9.834;QD=2.9;ReadPosRankSum=-5.555;SOR=2.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,29:209:99:0|1:15363771_G_T:614,0,7220:15363771	2	0	1	3
chr16	15363772	15363772	T	A	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.A940T:p.T314S	.	474	1026	11	0	11	22	0.00533204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.114018	0.0010	0.0012	0.0015	0	0.0014	0.0013	0	0.0003	0.0040103	620	154602	rs201420102	0.0022	0.0055	0.0019	0.0024	0.0076	0.0021	0.0021	0.0069	0.0067	0.0016	0.0055	0.0030	0.0058	0.0072	0.0037	0.0016	0.0029	0.0076	0.0015	0.0041	0.0018	0.0012	0.0019	0.0012	0.0011	0.0013	0.0011	0.0018	0	0.0019	0.0009	0.0016	0.0020	0	0.0013	0	0	0.605	0.05551	T	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.89	0.45636	T	-1.17	0.29933	N	0.095	0.07535	-1.0213	0.23292	T	0.045	0.19152	T	4	0.0033916235	0.00059	T	.	.	.	0.010	0.01040	0.359	0.36222	0.082315109003	0.07666	0.008228124236654345	0.00787	1.27143699399	0.82279	.	.	.	0.010788	0.09704	T	-0.310364	0.07716	T	-0.683593	0.06767	T	0.0049955497737032	0.00054	T	0.140186	0.01129	T	0.08519536	0.19751	0.07435097	0.16256	0.08519536	0.19751	0.07435097	0.16256	-6.997	0.54012	T	.	.	0.177	0.38587	B	.	.	0.030263	0.04496	1.203	0.36374483596762708	0.02336	0.00068	0.00484	N	AEFDI	0.035273	0.04511	N	-0.712332701270957	0.15675	0.7920261	-0.811466716692036	0.14218	0.7417643	1.64775418838586E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-1.435000	0.02529	-3.306000	0.02890	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	600.84	196	chr16	15363772	.	T	A	600.84	.	AC=1;AF=0.167;AN=6;BaseQRankSum=3.39;DP=1088;ExcessHet=0;FS=18.618;MLEAC=1;MLEAF=0.167;MQ=56.55;MQRankSum=-10.54;QD=3.25;ReadPosRankSum=-5.204;SOR=1.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,29:209:99:0|1:15363771_G_T:608,0,7282:15363771	2	0	1	3
chr16	16273795	16273795	A	G	exonic	NOMO2;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	95	129	0	2	0	4	0.0152672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0348921807291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409485748	0.0008	0.0008	0.0008	0.0009	0.0079	0.0008	0.0008	0.0052	0.0043	6.898e-05	0.0003	0.0015	0	2.912e-05	0.0079	0.0006	0.0012	0.0036	0.0005	0.0005	0.0010	0	0.0021	0	0	.	.	0	0	0	0	0	0	0	0.0021	0	0	0.161	0.26300	T	0.013	0.63918	D	0.982	0.60036	D	0.715	0.54683	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.645	0.65844	-1.0958	0.04639	T	0.029	0.12234	T	10	0.10128394	0.18495	T	0.034892	0.55985	D	0.160	0.41473	0.263	0.20788	0.438593652726	0.43481	0.6076498977789883	0.60696	.	.	0.603942036629	0.53460	T	0.004737	0.09303	T	-0.356739	0.04318	T	-0.289822	0.45792	T	0.0926210135221481	0.11525	T	0.956104	0.83363	D	0.25034335	0.48035	0.16223365	0.37694	0.25034335	0.48035	0.16223365	0.37693	-5.107	0.37981	T	.	.	0.197	0.44384	B	.;.	.;.	3.155044	0.42722	21.6	0.98146118154868234	0.38647	0.77618	0.38184	D	AEFI	0.480565	0.52223	N	-0.161683254739873	0.34739	1.986566	-0.197022269048362	0.31645	1.792881	1.26429308109368E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.2	0.192	0.14415	1.099000	0.30625	2.008000	0.30152	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.5178:0.4822:0.0:0.0	11.619	0.50367	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	164.66	3	chr16	16273795	.	A	G	164.66	.	AC=4;AF=0.333;AN=12;DP=48;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=26.35;QD=27.44;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,4:4:12:125,12,0	4	2	0	0
chr16	18520877	18520877	T	C	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0279802166945	.	.	0.0008	0.0001	0.0002	0	0	0.0007	0.0033	0.0028	3.84e-05	1	26028	rs749051082	0.0005	0.0007	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	5.975e-05	0.0003	0.0008	0	0	0.0051	0.0004	0.0007	0.0021	0.0003	0.0005	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0.0003	0	0	0.0068	0.0005	0.0009	0.0010	0.158	0.26629	T	0.013	0.92824	D	0.014	0.16867	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.837	0.86941	-0.7935	0.55526	T	0.013	0.05033	T	10	0.08753258	0.14987	T	0.02798	0.50720	D	0.187	0.46274	.	.	0.31077124679	0.30691	0.6336783096815357	0.63301	.	.	0.594283103943	0.52098	T	0.007539	0.06940	T	-0.347144	0.04909	T	-0.276973	0.47115	T	0.0347181973874079	0.02761	T	0.956104	0.83775	D	0.2227827	0.44885	0.1551629	0.36384	0.2227827	0.44885	0.1551629	0.36383	-5.099	0.41284	T	.	.	0.182	0.42906	B	.;.;.;.;.	.;.;.;.;.	2.522562	0.32602	19.09	0.97507598280086194	0.34331	0.75480	0.36958	D	AEFI	0.455969	0.50803	N	-0.365101523926914	0.26721	1.460499	-0.298532606994092	0.28146	1.567075	5.2496797031966E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.37	2.22	0.27116	1.235000	0.32274	1.258000	0.25213	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.651000	0.32720	0.0:0.0:0.1872:0.8128	9.019	0.35351	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	0.001144	0.000000	0.000000	0.000000	0.000000	0.000000	0.003497	0.004000	0.1667	1949.06	46	chr16	18520877	.	T	C	1949.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.269;DP=643;ExcessHet=0.4139;FS=3.738;MLEAC=2;MLEAF=0.167;MQ=32.05;MQRankSum=-2.342;QD=4.26;ReadPosRankSum=0.761;SOR=0.589	GT:AD:DP:GQ:PL	0/1:148,61:209:99:1055,0,3660	4	0	2	0
chr16	19699502	19699502	G	A	exonic	VPS35L	.	nonsynonymous SNV	VPS35L:NM_001300743:exon27:c.G2368A:p.A790T,VPS35L:NM_001365294:exon28:c.G2446A:p.A816T,VPS35L:NM_001365293:exon29:c.G2569A:p.A857T,VPS35L:NM_020314:exon30:c.G2647A:p.A883T,VPS35L:NM_001365295:exon31:c.G1759A:p.A587T	.	436	1018	64	4	0	72	0.0341556	0.2422	0.41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0022	0.00778754	0.0062	0.0003	0.0007	0	0.0005	0.0026	0.0100	0.0340	0.0055627	860	154602	rs34342607	0.0045	0.0045	0.0034	0.0056	0.0347	0.0044	0.0043	0.0336	0.0332	0.0004	0.0011	0.0004	0	0.0006	0.0120	0.0028	0.0043	0.0347	0.0026	0.0026	0.0024	0.0029	0.0326	0.0024	0.0023	0.0284	0.0268	0.0004	0	0.0012	0	0.0002	0.0002	0.0102	0.0029	0.0019	0.0326	0.514	0.09374	T	0.595	0.08217	T	0.001	0.07471	B	0.004	0.10090	B	0.001404	0.39109	N	0.275088	0.939711	0.37271	D	.	.	.	-0.25	0.67011	T	-0.46	0.17417	N	0.167	0.17691	-1.0187	0.24139	T	0.066	0.27330	T	9	0.0030856133	0.00051	T	.	.	.	0.115	0.32236	.	.	0.628129747422	0.62509	0.0991914943040385	0.09850	0.223371821447	0.24866	.	.	.	0.013786	0.11858	T	-0.463988	0.00928	T	-0.413501	0.31823	T	0.0127124624451056	0.00214	T	0.853715	0.54193	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.;.;.;.;.;.	.;.;.;.;.;.	3.086578	0.41541	21.4	0.98321290364980285	0.40241	0.61960	0.31638	D	AEFBCI	0.112050	0.22163	N	-0.209700433706891	0.32736	1.849513	-0.0127522877868914	0.39137	2.316053	0.999987778612709	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.56	3.33	0.37245	4.850000	0.62587	8.324000	0.76967	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.4103:0.0:0.5897:0.0	3.356	0.06750	739	0.53257	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.010101	0.004076	0.005848	0.000000	0.008621	0.006098	0.030303	0.1667	2498.06	33	chr16	19699502	.	G	A	2498.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.64;DP=359;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.802;SOR=0.7	GT:AD:DP:GQ:PL	0/1:60,51:111:99:1345,0,1593	4	0	2	0
chr16	29383572	29383574	TAT	-	exonic	NPIPB11	.	nonframeshift deletion	NPIPB11:NM_001310137:exon8:c.1358_1360del:p.N453del	.	588	894	40	0	0	40	0.0218818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0069	0.0158	0	0.0022	0.0195	0.0060	0.0102	3.84e-05	1	26028	rs746135908	0.0063	0.0059	0.0057	0.0068	0.0208	0.0061	0.0061	0.0171	0.0157	0.0017	0.0065	0.0183	0	0.0051	0.0208	0.0064	0.0094	0.0024	0.0053	0.0058	0.0051	0.0055	0.0074	0.0048	0.0046	0.0066	0.0064	0.0011	0.0093	0.0045	0.0117	0	0.0012	0.0294	0.0074	0.0035	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2402.99	43	chr16	29383571	.	ATAT	A	2402.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.305;DP=446;ExcessHet=1.383;FS=8.052;MLEAC=3;MLEAF=0.25;MQ=35.66;MQRankSum=-0.782;QD=8.64;ReadPosRankSum=0.166;SOR=1.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,14:83:99:.:.:343,0,2809:.	3	0	3	0
chr16	29897091	29897091	G	A	exonic	SEZ6L2	.	nonsynonymous SNV	SEZ6L2:NM_001243333:exon2:c.C110T:p.P37L,SEZ6L2:NM_001114100:exon3:c.C242T:p.P81L,SEZ6L2:NM_001243332:exon3:c.C242T:p.P81L,SEZ6L2:NM_201575:exon3:c.C242T:p.P81L	.	408	1113	1	0	0	1	0.000449035	.	.	.	703626	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0061	0.00519169	0.0027	0.0365	0.0008	0	0	5.859e-05	0.0053	9.895e-05	0.001727	267	154602	rs187804176	0.0006	0.0006	0.0007	0.0006	0.0222	0.0006	0.0006	0.0209	0.0204	0.0222	0.0011	0	0	0	0.0008	3.536e-05	0.0014	3.575e-05	0.0071	0.0071	0.0072	0.0069	0.0246	0.0067	0.0066	0.0233	0.0228	0.0246	0	0.0029	0	0	0	0.0068	5.882e-05	0.0028	0	0.004	0.78490	D	0.014	0.62352	D	0.001	0.07471	B	0.001	0.04355	B	0.026610	0.25890	N	0.270105	0.984498	0.81001	D	1.445	0.36358	L	0.92	0.44461	T	-0.39	0.26422	N	0.244	0.49237	-1.0842	0.06553	T	0.022	0.09513	T	9	0.0049299	0.00106	T	.	.	.	0.050	0.13987	.	.	0.580411381372	0.57712	0.6906129853749136	0.69001	0.555825171214	0.52270	0.576260566711	0.49558	T	0.160542	0.50443	T	-0.53321	0.00368	T	-0.519099	0.20385	T	0.0311172165124177	0.02164	T	0.949605	0.80601	D	0.10528081	0.24892	0.084244885	0.19364	0.10528081	0.24892	0.084244885	0.19364	-3.918	0.25068	T	.	.	0.112	0.21803	B	.;.;.;.;.	.;.;.;.;.	3.789435	0.54539	23.5	0.99680314822811511	0.79174	0.75492	0.36965	D	AEFBI	0.287001	0.39925	N	-0.162172455225538	0.34719	1.985124	0.0281908103866203	0.41029	2.458191	0.998811326857261	0.37733	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.668105	0.65232	0	.	.	5.36	4.31	0.50718	0.967000	0.28941	9.579000	0.81025	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.966000	0.53164	0.0924:0.0:0.7307:0.1769	7.597	0.27219	246	0.90367	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000524	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	318.83	39	chr16	29897091	.	G	A	318.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.941;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.151;SOR=0.495	GT:AD:DP:GQ:PL	0/1:16,16:32:99:329,0,371	5	0	1	0
chr16	29987892	29987892	C	T	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_016151:exon16:c.C3620T:p.P1207L,TAOK2:NM_001252043:exon17:c.C3281T:p.P1094L	.	.	.	.	.	.	.	.	.	.	.	1382915	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0250278955902	0.0002	.	0.0001	0.0012	0.0002	0	0	0	0.0017	0	7.12e-05	11	154602	rs373807941	4.437e-05	4.446e-05	4.687e-05	4.184e-05	0.0014	3.556e-05	3.236e-05	0.0011	0.0010	0.0014	0.0001	0	0	0	0.0004	0	0.0002	1.176e-05	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	6.541e-05	0	0	0	0	0	0	0	0.488	0.91255	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.06944	B	0.757355	0.06519	N	1.131410	1	0.19694	N	0.345	0.11182	N	-0.39	0.69158	T	-0.4	0.13805	N	0.186	0.28264	-0.9915	0.32218	T	0.142	0.46367	T	9	0.014512092	0.00305	T	0.025028	0.48012	D	0.106	0.30130	.	.	0.184605227958	0.18053	0.2045062377690836	0.20367	0.392072762019	0.40400	0.430480837822	0.29275	T	0.113638	0.43084	T	-0.40715	0.02077	T	-0.398152	0.33598	T	0.0149039561583878	0.00317	T	0.712229	0.32360	T	0.018806808	0.00404	0.022120755	0.00243	0.018806808	0.00403	0.022120755	0.00243	-3.608	0.17973	T	.	.	0.068	0.13174	B	.;.;.	.;.;.	1.456221	0.18780	13.92	0.89900373739643713	0.19201	0.15532	0.18958	N	AEFDBI	0.067339	0.13233	N	-0.750292067897804	0.14624	0.730113	-0.70351045253874	0.16872	0.8946406	0.148761113856394	0.17404	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	3.07	0.34476	0.927000	0.28418	1.444000	0.26551	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.427000	0.27384	0.0:0.7475:0.0:0.2525	5.626	0.16761	77	0.96778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1402.83	38	chr16	29987892	.	C	T	1402.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.293;DP=282;ExcessHet=0;FS=3.078;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=0.677;SOR=0.385	GT:AD:DP:GQ:PL	0/1:31,53:84:99:1413,0,799	5	0	1	0
chr16	29993468	29993468	T	C	exonic	HIRIP3	.	nonsynonymous SNV	HIRIP3:NM_003609:exon6:c.A1498G:p.S500G	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0254119739495	0.0024	0.00139776	0.0006	0.0062	0.0003	0	0	3.017e-05	0.0045	0	0.0005627	87	154602	rs139374551	0.0002	0.0002	0.0002	0.0001	0.0054	0.0001	0.0001	0.0047	0.0045	0.0054	0.0003	0	0	0	0.0005	3.6e-06	0.0005	5.8e-05	0.0018	0.0018	0.0019	0.0016	0.0063	0.0016	0.0015	0.0056	0.0054	0.0063	0	0.0004	0	0	0	0	0	0.0005	0	0.003	0.68238	D	0.018	0.59732	D	0.943	0.53072	P	0.492	0.47401	P	0.002635	0.36208	N	0.275022	1	0.81001	D	2.08	0.57402	M	0.5	0.55608	T	-2.82	0.59545	D	0.296	0.33469	-0.9611	0.38974	T	0.088	0.34105	T	10	0.006287575	0.00142	T	0.025412	0.48380	D	0.151	0.39764	.	.	0.746532560806	0.74424	0.199277183188883	0.19844	0.302961409508	0.32622	0.479249596596	0.35953	T	0.055858	0.30123	T	-0.449933	0.01130	T	-0.416045	0.31529	T	0.0381929577216729	0.03366	T	0.718628	0.33152	T	0.67134005	0.76504	0.5046969	0.71371	0.67134005	0.76506	0.5046969	0.71371	-10.007	0.73954	D	.	.	0.122	0.25429	B	.	.	3.202526	0.43554	21.8	0.99649639326353223	0.77192	0.79733	0.39568	D	AEFDBI	0.142636	0.26513	N	0.135555891635963	0.48128	3.029131	0.15614961964511	0.47469	2.976637	0.999999993081916	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.54	5.54	0.82907	1.300000	0.33040	5.056000	0.47043	0.665000	0.62972	0.939000	0.32602	1.000000	0.68203	0.347000	0.25591	0.0:0.0885:0.0:0.9115	8.224	0.30718	74	0.96871	Histone chaperone domain CHZ|Histone chaperone domain CHZ	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1212.83	36	chr16	29993468	.	T	C	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.908;DP=294;ExcessHet=0;FS=3.422;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.21;SOR=1.037	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1223,0,1894	5	0	1	0
chr16	30121912	30121912	T	C	exonic	MAPK3	.	nonsynonymous SNV	MAPK3:NM_001040056:exon2:c.A265G:p.I89V,MAPK3:NM_001109891:exon2:c.A265G:p.I89V,MAPK3:NM_002746:exon2:c.A265G:p.I89V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0340490209091	0.0005	.	0.0001	0.0010	0.0002	0	0	0	0.0011	0	9.06e-05	14	154602	rs141047495	4.788e-05	4.857e-05	5.173e-05	4.4e-05	0.0016	3.86e-05	3.54e-05	0.0012	0.0011	0.0016	0.0001	0	0	0	0.0003	0	0.0002	1.159e-05	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0010	0.0009	0.0012	0	6.546e-05	0	0	0	0	0	0	0	0.023	0.48642	D	0.037	0.51737	D	0.759	0.43487	P	0.405	0.44649	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.45	0.36711	L	-0.21	0.66294	T	-0.79	0.21860	N	0.629	0.64308	-0.5919	0.65144	T	0.235	0.60173	T	10	0.12631747	0.24012	T	0.034049	0.55408	D	0.239	0.54358	.	.	0.799435439029	0.79756	0.26473257628815705	0.26386	0.803677743758	0.66365	0.784126579762	0.79552	T	0.156313	0.49842	T	-0.264961	0.12325	T	-0.198927	0.54749	T	0.0391067246801186	0.03528	T	0.941606	0.78301	D	0.4124305	0.61584	0.22739246	0.47748	0.4124305	0.61584	0.22739246	0.47747	-9.388	0.72960	D	.	.	0.532	0.67407	A	.;.;.;.;.	.;.;.;.;.	4.453467	0.69252	25.3	0.99867467440655167	0.94547	0.91833	0.54361	D	AEFDGBHCI	0.871826	0.79340	D	0.233568745375249	0.52832	3.45499	0.369504640384717	0.59692	4.149144	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.56214	0.19341	0	.	.	5.63	5.63	0.86108	6.223000	0.72203	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	14.819	0.69684	150	0.94078	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	985.83	38	chr16	30121912	.	T	C	985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=259;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.181;SOR=0.833	GT:AD:DP:GQ:PL	0/1:42,38:80:99:996,0,992	5	0	1	0
chr16	30353440	30353440	G	A	exonic	CD2BP2	.	nonsynonymous SNV	CD2BP2:NM_001243646:exon4:c.C736T:p.P246S,CD2BP2:NM_006110:exon5:c.C736T:p.P246S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0153507912001	.	.	8.253e-06	9.653e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs768245225	3.42e-06	3.42e-06	2.722e-06	4.125e-06	5.038e-05	1e-06	7.3e-07	8.35e-06	3.12e-06	2.987e-05	0	0	5.038e-05	0	0	8.993e-07	1.656e-05	0	2.629e-05	2.627e-05	3.854e-05	1.346e-05	9.658e-05	8.14e-06	5.14e-06	3.251e-05	1.916e-05	9.658e-05	0	0	0	0	0	0	0	0	0	0.327	0.13262	T	0.406	0.14725	T	0.817	0.45613	P	0.275	0.40079	B	0.000030	0.55875	D	0.156600	0.984131	0.40105	D	1.725	0.44537	L	1.62	0.28189	T	0.65	0.02332	N	0.362	0.40364	-1.0727	0.08830	T	0.065	0.26702	T	10	0.2269006	0.39556	T	0.015351	0.36031	T	0.155	0.40530	0.172	0.07774	0.458554320643	0.45480	0.4100015250043565	0.40916	0.311728463542	0.33480	0.42526704073	0.28561	T	0.004923	0.04343	T	-0.21859	0.18185	T	-0.370238	0.36861	T	0.270276963710785	0.23759	T	0.780822	0.41560	T	0.09540268	0.22451	0.11895055	0.28711	0.09540268	0.22451	0.11895055	0.28710	-4.052	0.24579	T	.	.	0.081	0.08272	B	.;.	.;.	2.856667	0.37735	20.6	0.99589986232529792	0.73572	0.93537	0.58487	D	AEFBCI	0.360356	0.45036	N	0.0313110371780036	0.43284	2.624335	0.0851975327894323	0.43803	2.674584	0.999999995845914	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	3.095000	0.49927	11.894000	0.99172	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.105000	0.18517	0.0:0.0:1.0:0.0	17.856	0.88677	199	0.92292	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	5108.06	34	chr16	30353440	.	G	A	5108.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.041;DP=508;ExcessHet=0.4139;FS=3.412;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.513;SOR=0.884	GT:AD:DP:GQ:PL	0/1:92,100:192:99:2623,0,2302	4	0	2	0
chr16	30353722	30353722	T	C	exonic	CD2BP2	.	nonsynonymous SNV	CD2BP2:NM_001243646:exon4:c.A454G:p.M152V,CD2BP2:NM_006110:exon5:c.A454G:p.M152V	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00346990941411	7.7e-05	.	2.599e-05	0.0001	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs372551765	3.971e-05	3.967e-05	4.632e-05	3.303e-05	0.0016	3.115e-05	2.849e-05	0.0008	0.0006	5.975e-05	0	0	2.519e-05	0	0.0016	3.868e-05	0	3.478e-05	4.6e-05	4.597e-05	7.71e-05	1.345e-05	0.0001	2.109e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.941e-05	0	0	0.728	0.03834	T	0.563	0.09022	T	0.0	0.02946	B	0.0	0.01387	B	0.000037	0.55875	D	0.164696	0.999946	0.19238	N	0.475	0.13142	N	1.67	0.27331	T	-0.19	0.09965	N	0.245	0.27792	-0.9914	0.32244	T	0.027	0.11751	T	10	0.037391394	0.02090	T	0.00347	0.07847	T	0.088	0.25558	.	.	0.187945064343	0.18414	0.28202786634924615	0.28115	0.0772688110211	0.08684	0.506601452827	0.39748	T	0.004565	0.03968	T	-0.378097	0.03202	T	-0.596871	0.13076	T	0.0239073666811275	0.01133	T	0.567243	0.20104	T	0.09162422	0.21475	0.076783426	0.17040	0.09162422	0.21475	0.076783426	0.17040	-1.449	0.01663	T	.	.	0.058	0.00754	B	.;.	.;.	3.654516	0.51883	23.2	0.57375179615807204	0.05755	0.27856	0.23393	N	AEFDBCI	0.094266	0.19063	N	-1.05796126815312	0.07432	0.3452343	-0.940339962961932	0.11148	0.5661516	0.999914351820558	0.45857	0.722319	0.85440	0	0.685571	0.66316	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.06	-0.589	0.11097	-0.056000	0.11744	0.229000	0.16167	-0.147000	0.12262	0.012000	0.18695	0.040000	0.21562	0.875000	0.41745	0.1909:0.0:0.4117:0.3974	7.101	0.24517	199	0.92292	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.003049	0.000000	0.1667	2333.06	34	chr16	30353722	.	T	C	2333.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.045;DP=297;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=1.78;SOR=0.695	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1144,0,888	4	0	2	0
chr16	30583200	30583200	A	C	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon3:c.T578G:p.V193G	.	427	1059	35	1	0	37	0.0171694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0084	0.00299521	0.0083	0.0014	0.0075	0.0001	0.0014	0.0124	0.0056	0.0043	0.008441	1305	154602	rs35215913	0.0097	0.0097	0.0096	0.0097	0.0347	0.0095	0.0095	0.0307	0.0292	0.0025	0.0088	0.0360	2.519e-05	0.0015	0.0347	0.0100	0.0130	0.0057	0.0085	0.0085	0.0090	0.0080	0.0135	0.0081	0.0079	0.0120	0.0114	0.0017	0.0011	0.0135	0.0413	0.0006	0.0008	0.0340	0.0118	0.0123	0.0042	0.026	0.56456	D	0.004	0.74150	D	0.025	0.59353	B	0.027	0.65999	B	.	.	.	.	1	0.08975	N	1.4	0.35362	L	0.68	0.51952	T	-4.28	0.78553	D	0.145	0.14622	-0.8910	0.48846	T	0.177	0.52178	T	9	0.005142987	0.00112	T	.	.	.	0.108	0.30607	.	.	0.137902524267	0.13322	0.09788473330174625	0.09719	1.51491552847	0.87300	0.541760087013	0.44694	T	0.075017	0.35078	T	-0.605494	0.00135	T	-0.631495	0.10302	T	0.0371414656308382	0.03181	T	0.247575	0.03662	T	0.25864074	0.48914	0.17264035	0.39534	0.25864074	0.48914	0.17264035	0.39533	-7.663	0.59035	D	.	.	0.480	0.64731	A	.;.	.;.	1.452523	0.18737	13.90	0.98991087645046205	0.49943	0.05448	0.11325	N	AEFDBI	0.091409	0.18515	N	-0.682885310577017	0.16509	0.8417803	-0.880007790065353	0.12568	0.647249	0.024217103947528	0.13563	0.562547	0.31514	0	0.577304	0.33150	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	3.88	-1.14	0.09241	-1.019000	0.03733	-2.951000	0.03199	-0.060000	0.16637	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.52:0.1714:0.3086:0.0	4.346	0.10570	176	0.93188	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ARMC5|ARMC5|BOLA2B|ARMC5|ARMC5|SETD1A	Adipose_Visceral_Omentum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Whole_Blood	.	.	rs35215913	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.036254	0.070707	0.040761	0.070175	0.050000	0.017241	0.015244	0.011364	0.1667	2040.06	33	chr16	30583200	.	A	C	2040.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.91;DP=272;ExcessHet=0.4139;FS=5.44;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=1.14;SOR=0.361	GT:AD:DP:GQ:PL	0/1:24,33:57:99:941,0,696	4	0	2	0
chr16	30583423	30583423	C	T	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon3:c.G355A:p.E119K	.	418	1068	35	1	0	37	0.0170272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0085	0.00299521	0.0082	0.0014	0.0073	0.0001	0.0014	0.0120	0.0037	0.0037	0.0084281	1303	154602	rs35974081	0.0095	0.0095	0.0096	0.0095	0.0347	0.0094	0.0093	0.0307	0.0291	0.0025	0.0093	0.0356	2.563e-05	0.0015	0.0347	0.0099	0.0126	0.0054	0.0085	0.0085	0.0090	0.0079	0.0135	0.0081	0.0079	0.0120	0.0114	0.0017	0.0011	0.0135	0.0412	0.0006	0.0008	0.0340	0.0117	0.0123	0.0042	0.436	0.09374	T	0.766	0.06265	T	0.324	0.33106	B	0.093	0.30104	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.42	0.05507	T	-0.08	0.12283	N	0.186	0.20262	-0.9882	0.33052	T	0.005	0.01797	T	9	0.0026192963	0.00040	T	.	.	.	0.038	0.09825	.	.	0.0482279557977	0.04254	0.1372591504599264	0.13649	0.511365231531	0.49213	0.515919387341	0.41052	T	0.004446	0.03847	T	-0.621603	0.00107	T	-0.654635	0.08632	T	0.00059005552276125	0.00005	T	0.50095	0.15685	T	0.022941232	0.00993	0.034488097	0.02525	0.022941232	0.00993	0.034488097	0.02524	-3.589	0.22813	T	.	.	0.097	0.15921	B	.;.	.;.	0.337488	0.07112	3.688	0.98818526866648293	0.46736	0.00819	0.03310	N	AEFBI	0.026200	0.01926	N	-1.00077854424395	0.08588	0.4032363	-1.03187283093451	0.09089	0.4502492	0.11431094478075	0.16729	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.64	1.66	0.23081	0.177000	0.16615	-0.684000	0.07871	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.138000	0.19872	0.0:0.8217:0.0:0.1783	4.796	0.12642	176	0.93188	.;.	ARMC5|ARMC5|BOLA2B|ARMC5|ARMC5|SETD1A	Adipose_Visceral_Omentum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Whole_Blood	.	.	rs35974081	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.035247	0.065657	0.042120	0.070175	0.050000	0.017241	0.012195	0.011364	0.1667	3096.06	33	chr16	30583423	.	C	T	3096.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.47;DP=390;ExcessHet=0.4139;FS=2.859;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.95;SOR=0.885	GT:AD:DP:GQ:PL	0/1:56,66:122:99:1659,0,1352	4	0	2	0
chr16	30698151	30698151	G	C	exonic	LOC730183	.	nonsynonymous SNV	LOC730183:NM_001256932:exon1:c.C158G:p.S53C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs745382343	5.994e-05	4.788e-05	4.608e-05	7.472e-05	0.0021	4.787e-05	4.35e-05	0.0016	0.0014	0.0021	0.0002	0	0	0	0.0004	5.679e-06	0.0002	4.748e-05	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0016	0.0014	0.0019	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	714.83	41	chr16	30698151	.	G	C	714.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.817;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.32;ReadPosRankSum=0.865;SOR=0.551	GT:AD:DP:GQ:PL	0/1:11,26:37:99:725,0,268	5	0	1	0
chr16	30724027	30724027	C	G	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon25:c.C4603G:p.P1535A	Floating-Harbor syndrome, Autosomal dominant	1	1480	41	0	0	41	0.0136621	.	.	.	169198	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.166	.	0.0063	0.00319489	0.0069	0.0013	0.0062	0.0001	0.0014	0.0100	0.0055	0.0041	0.0068951	1066	154602	rs117804715	0.0077	0.0077	0.0077	0.0077	0.0262	0.0076	0.0075	0.0228	0.0215	0.0019	0.0079	0.0228	2.519e-05	0.0014	0.0262	0.0080	0.0092	0.0057	0.0066	0.0066	0.0071	0.0061	0.0113	0.0063	0.0061	0.0099	0.0094	0.0014	0	0.0113	0.0242	0.0006	0.0007	0.0204	0.0093	0.0118	0.0035	0.004	0.65419	D	0.019	0.59159	D	0.045	0.21781	B	0.012	0.16012	B	0.001773	0.38052	N	0.121034	0.99237	0.27992	N	0.805	0.20218	L	-2.85	0.91363	D	-1.86	0.43524	N	0.122	0.17278	-0.5255	0.67711	T	0.388	0.74312	T	10	0.003346175	0.00058	T	.	.	.	0.166	0.42578	.	.	0.171220215726	0.16700	0.14443267510634614	0.14366	0.409613746433	0.41775	0.432179421186	0.29506	T	0.047445	0.27724	T	-0.401756	0.02255	T	-0.34191	0.40127	T	0.0111071003715947	0.00162	T	0.837516	0.51030	T	0.05706521	0.11311	0.077916384	0.17403	0.06670216	0.14376	0.07444466	0.16284	-5.198	0.38921	T	0.1859785009534004	0.24187	0.076	0.06114	B	.;.	.;.	2.787215	0.36630	20.3	0.97774561931433468	0.35894	0.52099	0.29051	D	AEFDBCI	0.081452	0.16482	N	-0.496018163434093	0.22210	1.184365	-0.364365858900063	0.26068	1.437536	0.999971470864979	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	2.48	0.29194	0.783000	0.26463	1.813000	0.28978	0.549000	0.26987	0.012000	0.18695	1.000000	0.68203	0.998000	0.85391	0.0:0.6961:0.1428:0.1611	7.061	0.24304	10	0.99061	.;.	.	.	.	.	.	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	0.027694	0.030303	0.029891	0.061404	0.050000	0.017241	0.018293	0.011364	0.1667	5652.06	39	chr16	30724027	.	C	G	5652.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.01;DP=567;ExcessHet=0.4139;FS=0.756;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=2.37;SOR=0.754	GT:AD:DP:GQ:PL	0/1:105,86:191:99:2494,0,3018	4	0	2	0
chr16	30965757	30965757	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon8:c.C1876T:p.P626S	.	.	.	.	.	.	.	.	.	.	.	2731415	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.261	0.0525791148518	0.0003	0.000199681	0.0002	0.0012	0.0004	0	0	0	0	0.0001	9.7e-05	15	154602	rs148246624	8.377e-05	7.251e-05	7.955e-05	8.809e-05	0.0025	7.041e-05	6.579e-05	0.0020	0.0018	0.0025	0.0002	0	4.545e-05	0	0.0007	3.082e-06	0.0002	0.0001	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0014	0.0012	0.0017	0	0.0002	0	0	0	0	0	0	0.0005	0.0	0.91255	D	0.013	0.63109	D	0.0	0.02946	B	0.001	0.04355	B	0.000001	0.62929	D	0.000000	0.981844	0.25009	N	1.24	0.30952	L	-3.81	0.95728	D	-2.64	0.56630	D	0.349	0.39052	-0.2908	0.75243	T	0.671	0.88583	D	10	0.018258065	0.00396	T	0.052579	0.65125	D	0.261	0.57352	.	.	0.397201501934	0.39331	0.2915141398365373	0.29064	0.576595669061	0.53609	0.768925786018	0.77263	T	0.05661	0.30337	T	-0.306654	0.08047	T	-0.226494	0.52111	T	0.0901944801441001	0.11241	T	0.516048	0.16641	T	0.46140903	0.64758	0.42805207	0.66531	0.46140903	0.64759	0.42805207	0.66531	-6.17	0.47679	T	.	.	0.123	0.25817	B	.	.	3.268076	0.44723	22.0	0.98035489070701054	0.37743	0.58911	0.30770	D	AEFDBHCI	0.074174	0.14859	N	-0.599732498340796	0.18952	0.988166	-0.52403908877498	0.21501	1.163434	0.999999075754366	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.81	1.8	0.24069	1.361000	0.33740	4.198000	0.42449	0.596000	0.33519	0.002000	0.15269	1.000000	0.68203	0.998000	0.85391	0.1612:0.7469:0.0:0.0919	7.836	0.28531	37	0.98026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1236.83	38	chr16	30965757	.	C	T	1236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.086;DP=315;ExcessHet=0;FS=2.403;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.347;SOR=0.962	GT:AD:DP:GQ:PL	0/1:71,48:119:99:1247,0,1994	5	0	1	0
chr16	31078342	31078342	G	A	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G2018A:p.R673Q	.	.	.	.	.	.	.	.	.	.	.	2731422	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00497872659287	0.0002	.	0.0001	0.0005	0.0002	0	0	0.0001	0.0011	0	0.00011	17	154602	rs147667959	8.008e-05	8.003e-05	8.307e-05	7.705e-05	0.0015	6.804e-05	6.358e-05	0.0012	0.0011	0.0015	0.0002	0	0	3.782e-05	0.0005	3.598e-05	0.0002	2.319e-05	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0009	0.0008	0.0012	0	0.0001	0	0	0	0	7.349e-05	0	0	0.228	0.18956	T	0.199	0.27943	T	0.196	0.29532	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	3.12	0.08106	T	-0.2	0.10136	N	0.096	0.07673	-0.9481	0.41296	T	0.012	0.04605	T	9	0.024490714	0.00675	T	0.004979	0.12566	T	0.016	0.02506	.	.	0.367803931526	0.36392	0.09046711706946438	0.08979	0.453145980313	0.45012	0.319879353046	0.13402	T	0.00978	0.08877	T	-0.609334	0.00128	T	-0.683421	0.06777	T	0.0190103105633233	0.00610	T	0.728327	0.34315	T	0.035558	0.04209	0.05919256	0.11068	0.035558	0.04208	0.05919256	0.11068	-5.654	0.43282	T	.	.	0.105	0.19357	B	.;.	.;.	2.422980	0.31160	18.66	0.99414762796085177	0.63453	0.26792	0.23094	N	AEFBHCI	0.059299	0.11191	N	-0.566906364431564	0.19957	1.048512	-0.440209906468838	0.23827	1.301471	0.995813248437294	0.34342	0.562547	0.31514	0	0.577304	0.33150	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.64	3.52	0.39415	0.970000	0.28980	.	.	0.676000	0.76740	0.675000	0.28393	0.996000	0.32793	0.809000	0.38129	0.0909:0.1559:0.7532:0.0	8.301	0.31175	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1152.83	33	chr16	31078342	.	G	A	1152.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.62;DP=271;ExcessHet=0;FS=1.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-1.509;SOR=0.438	GT:AD:DP:GQ:PL	0/1:39,39:78:99:1163,0,1021	5	0	1	0
chr16	31085168	31085168	A	G	exonic	PRSS53	.	nonsynonymous SNV	PRSS53:NM_001039503:exon7:c.T976C:p.C326R	.	.	.	.	.	.	.	.	.	.	.	2731414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.777	0.220968821304	0.0004	0.000199681	0.0001	0.0010	0.0004	0	0	0	0.0015	0	8.41e-05	13	154602	rs199760254	6.308e-05	6.293e-05	6.137e-05	6.481e-05	0.0020	5.24e-05	4.857e-05	0.0016	0.0015	0.0020	0.0002	0	0	0	0.0005	9.003e-07	0.0002	1.169e-05	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	0.0002	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001267	0.39594	U	0.000000	1	0.81001	D	5.19	0.99953	H	-0.49	0.70365	T	-10.19	0.98914	D	0.94	0.94668	0.622	0.92185	D	0.670	0.88579	D	10	0.8107121	0.80359	D	0.220969	0.87783	D	0.777	0.92542	.	.	0.78844528883	0.78648	0.9382851228237187	0.93809	0.496641408072	0.48171	0.659983754158	0.61406	T	0.715013	0.91900	D	0.0589214	0.59477	T	0.29863	0.88134	D	0.627115726470947	0.37499	D	0.69663	0.30630	T	0.9905708	0.99793	0.9845733	0.99917	0.9905708	0.99793	0.9845733	0.99917	-12.89	0.88904	D	.	.	0.954	0.87360	P	.	.	4.740984	0.76452	26.5	0.99725302538714411	0.82336	0.82049	0.41338	D	AEFDGBCI	0.588195	0.58555	D	0.912064213064427	0.92338	11.36651	0.824323021054402	0.91431	10.88318	0.999999999924874	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.0	0.00061	3	0.664235	0.64389	0	.	.	5.75	5.75	0.90390	4.613000	0.60880	.	.	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.982000	0.59238	1.0:0.0:0.0:0.0	15.034	0.71397	41	0.97903	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1054.83	34	chr16	31085168	.	A	G	1054.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=250;ExcessHet=0;FS=0.993;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=0.08;SOR=0.914	GT:AD:DP:GQ:PL	0/1:24,38:62:99:1065,0,543	5	0	1	0
chr16	31397403	31397403	C	T	exonic	ITGAD	.	nonsynonymous SNV	ITGAD:NM_001318185:exon3:c.C182T:p.T61M,ITGAD:NM_005353:exon3:c.C182T:p.T61M	.	.	.	.	.	.	.	.	.	.	.	2731411	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.0644059551667	0.0004	.	0.0002	0.0013	0.0007	0	0	3.09e-05	0.0024	0	9.06e-05	14	154602	rs150049273	0.0001	0.0001	0.0001	9.563e-05	0.0017	9.109e-05	8.588e-05	0.0014	0.0013	0.0017	0.0003	0	7.647e-05	0	0.0005	5.595e-05	0.0002	1.185e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0001	0	0	0	0	2.94e-05	0	0	0.026	0.46910	D	0.003	0.76473	D	1.0	0.90584	D	0.973	0.72923	D	.	.	.	.	0.971928	0.25628	N	2.17	0.60663	M	-0.73	0.73100	T	-4.95	0.81910	D	0.574	0.59648	-0.5621	0.66324	T	0.461	0.79072	T	9	0.2942811	0.47000	T	0.064406	0.69266	D	0.361	0.68141	.	.	0.895918747923	0.89489	0.6507145803554045	0.65007	0.745798275388	0.63508	0.519068598747	0.41495	T	0.556017	0.85052	D	-0.272639	0.11465	T	-0.204936	0.54179	T	0.146828974394759	0.16848	T	0.816218	0.47186	T	0.053059068	0.09985	0.12608671	0.30372	0.053059068	0.09985	0.12608671	0.30371	-9.471	0.70678	D	.	.	0.112	0.21766	B	.	.	2.983778	0.39815	21.0	0.99667224099404073	0.78330	0.30950	0.24214	N	AEFDBHI	0.105328	0.21049	N	0.123152281196761	0.47546	2.978662	-0.0639600536247437	0.36892	2.152881	0.176513929569706	0.17811	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.05	3.09	0.34677	2.348000	0.43701	.	.	0.599000	0.40250	0.275000	0.25094	0.898000	0.27928	0.013000	0.09966	0.0:0.8861:0.0:0.1139	8.088	0.29948	454	0.79125	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2110.83	34	chr16	31397403	.	C	T	2110.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-1.013;SOR=0.641	GT:AD:DP:GQ:PL	0/1:72,73:145:99:2121,0,1959	5	0	1	0
chr16	31410795	31410795	C	T	exonic	ITGAD	.	nonsynonymous SNV	ITGAD:NM_001318185:exon12:c.C1273T:p.R425C,ITGAD:NM_005353:exon12:c.C1273T:p.R425C	.	.	.	.	.	.	.	.	.	.	.	2375951	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.304	0.0990368747365	0.0011	0.000599042	0.0006	0.0017	0.0002	0	0	0.0007	0.0023	0.0002	0.0005304	82	154602	rs140839965	0.0003	0.0003	0.0003	0.0004	0.0030	0.0003	0.0003	0.0025	0.0023	0.0030	0.0003	0.0087	7.557e-05	0	0.0009	7.285e-05	0.0010	0.0001	0.0009	0.0009	0.0010	0.0008	0.0023	0.0008	0.0007	0.0019	0.0018	0.0023	0	0.0003	0.0072	0	0	0.0034	7.355e-05	0.0014	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.778696	0.29357	N	4.255	0.98070	H	0.99	0.41750	T	-7.47	0.94958	D	0.601	0.61933	-0.4076	0.71787	T	0.364	0.72522	T	9	0.03788528	0.02171	T	0.099037	0.77041	D	0.304	0.62510	.	.	0.714337202855	0.71183	0.7358299566986346	0.73527	0.861284270804	0.68974	0.469128668308	0.34560	T	0.787082	0.94432	D	-0.237916	0.15614	T	-0.121002	0.61720	T	0.140280835679578	0.16300	T	0.987701	0.95793	D	0.45774403	0.64530	0.4488945	0.67918	0.45774403	0.64531	0.4488945	0.67918	-11.816	0.83943	D	.	.	0.620	0.69682	P	.	.	4.948049	0.81718	27.6	0.99905392355110711	0.97651	0.25152	0.22612	N	AEFDBI	0.130970	0.24973	N	0.518303595156669	0.68174	5.180851	0.320528556967302	0.56746	3.838578	4.20349752453967E-5	0.03989	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.4	3.33	0.37245	0.481000	0.21969	.	.	0.524000	0.24156	0.002000	0.15269	0.986000	0.30841	0.722000	0.34836	0.1986:0.6907:0.0:0.1107	6.219	0.19883	426	0.81110	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	37	chr16	31410795	.	C	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.548;DP=273;ExcessHet=0;FS=3.897;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.75;SOR=0.639	GT:AD:DP:GQ:PL	0/1:51,43:94:99:965,0,1174	5	0	1	0
chr16	55528447	55528447	G	A	exonic	LPCAT2	.	nonsynonymous SNV	LPCAT2:NM_017839:exon3:c.G382A:p.V128I	.	433	1037	48	4	0	56	0.0262911	.	.	.	703739	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.468	.	0.0078	0.00559105	0.0077	0.0017	0.0052	0	0.0012	0.0093	0.0100	0.0128	0.0074773	1156	154602	rs61739979	0.0068	0.0068	0.0065	0.0071	0.0373	0.0067	0.0067	0.0332	0.0316	0.0018	0.0060	0.0275	5.041e-05	0.0010	0.0373	0.0064	0.0087	0.0122	0.0054	0.0054	0.0056	0.0053	0.0133	0.0051	0.0050	0.0106	0.0097	0.0013	0	0.0060	0.0265	0.0004	0.0014	0.0272	0.0069	0.0128	0.0133	0.144	0.25255	T	0.208	0.26883	T	0.837	0.46346	P	0.677	0.53365	P	0.000007	0.62929	D	0.106957	1	0.81001	D	1.915	0.51223	L	-3.06	0.92457	D	-0.74	0.20791	N	0.209	0.23253	0.373	0.88694	D	0.712	0.90112	D	10	0.009516329	0.00215	T	.	.	.	0.468	0.76289	.	.	0.883007314517	0.88186	0.4636391809396324	0.46282	0.642191404682	0.57793	0.374768316746	0.21513	T	0.021343	0.16634	T	-0.275501	0.11150	T	-0.158127	0.58521	T	0.0584089146062056	0.06916	T	0.843516	0.52087	T	0.21427143	0.43828	0.2297524	0.48057	0.2164344	0.44102	0.2297524	0.48056	-6.495	0.50248	T	.	.	0.082	0.08851	B	.	.	2.957763	0.39377	20.9	0.99756614939052335	0.84694	0.97969	0.78517	D	AEFBI	0.586403	0.58446	D	0.408504751708759	0.61889	4.39626	0.431893225924825	0.63564	4.592506	0.999999999454702	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.653264	0.51672	0	0.735409	0.98432	0	.	.	5.8	5.8	0.92081	5.616000	0.67389	3.029000	0.36034	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.929000	0.46594	0.0:0.0:1.0:0.0	20.055	0.97648	802	0.44336	Phospholipid/glycerol acyltransferase	.	.	.	.	.	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	0.037764	0.030303	0.040761	0.058480	0.000000	0.034483	0.021341	0.026515	0.08333	1523.83	33	chr16	55528447	.	G	A	1523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.243;DP=341;ExcessHet=0;FS=1.346;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.308;SOR=0.79	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1534,0,1566	5	0	1	0
chr16	56474894	56474894	A	G	exonic	OGFOD1	.	nonsynonymous SNV	OGFOD1:NM_001324363:exon10:c.A1238G:p.H413R,OGFOD1:NM_001324357:exon11:c.A1349G:p.H450R,OGFOD1:NM_001324358:exon11:c.A1187G:p.H396R,OGFOD1:NM_001324359:exon11:c.A1061G:p.H354R,OGFOD1:NM_001324360:exon11:c.A1061G:p.H354R,OGFOD1:NM_001324361:exon11:c.A1187G:p.H396R,OGFOD1:NM_001324362:exon11:c.A932G:p.H311R,OGFOD1:NM_018233:exon11:c.A1352G:p.H451R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0168776904753	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs746312312	6.843e-07	6.841e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.33418	T	0.078	0.42261	T	0.883	0.48537	P	0.601	0.50808	P	0.000000	0.84330	D	0.041854	1	0.81001	D	2.725	0.79712	M	0.85	0.48142	T	-4.53	0.78388	D	0.798	0.79406	-0.6622	0.62179	T	0.251	0.62096	T	9	0.81690586	0.80922	D	0.016878	0.38341	T	.	.	0.821	0.93395	0.676204940702	0.67346	0.7654095052582354	0.76489	0.253375711592	0.27906	0.636112093925	0.58012	T	0.168455	0.51546	T	0.010142	0.53044	T	-0.0540799	0.66744	D	0.692892491280212	0.40382	D	0.663534	0.27241	T	0.5749597	0.71333	0.64010185	0.78975	0.5749597	0.71334	0.64010185	0.78976	-8.395	0.63732	D	.	.	0.171	0.45738	B	.;.	.;.	4.272645	0.65018	24.8	0.99693557382838893	0.80112	0.99278	0.93852	D	AEFBI	0.892476	0.82943	D	0.60382559732634	0.73416	5.962595	0.658657757171752	0.79258	7.044327	0.999999941706811	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	8.312000	0.89895	11.276000	0.91569	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	16.545	0.84275	443	0.79878	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain;Oxoglutarate/iron-dependent oxygenase, C-terminal degradation 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	.	.	.	.	.	.	.	.	0.08333	708.83	37	chr16	56474894	.	A	G	708.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.706;DP=250;ExcessHet=0;FS=4.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-2.644;SOR=0.729	GT:AD:DP:GQ:PL	0/1:34,34:68:99:719,0,876	5	0	1	0
chr16	69119798	69119798	G	C	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.C631G:p.P211A,DERPC:NM_001002847:exon3:c.C631G:p.P211A,DERPC:NM_001040144:exon3:c.C631G:p.P211A,DERPC:NM_001366604:exon3:c.C631G:p.P211A	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.00419329	0.0115	0.0018	0.0053	0	0.125	0.0056	0.0076	0.0153	0.0015394	238	154602	rs185866245	0.0043	0.0038	0.0035	0.0050	0.0134	0.0042	0.0041	0.0127	0.0124	0.0005	0.0021	0.0028	0	0.0063	0.0043	0.0034	0.0034	0.0134	0.0027	0.0027	0.0025	0.0029	0.0124	0.0025	0.0024	0.0099	0.0090	0.0004	0	0.0038	0.0032	0	0.0041	0.0035	0.0032	0.0019	0.0124	0.0	0.91255	D	0.373	0.16328	T	0.001	0.07471	B	0.003	0.08700	B	0.041520	0.23942	N	0.299706	0.999993	0.58761	D	.	.	.	1.92	0.23082	T	0.14	0.05405	N	0.246	0.27792	-1.0519	0.13872	T	0.028	0.12147	T	9	0.0026232302	0.00040	T	.	.	.	0.028	0.06331	.	.	0.247872288689	0.24386	0.0850487383074622	0.08438	.	.	0.483097851276	0.36483	T	0.015917	0.13255	T	-0.581976	0.00187	T	-0.597068	0.13057	T	0.0214830953862535	0.00852	T	0.445855	0.12478	T	0.050773207	0.09225	0.05342995	0.08997	0.050773207	0.09224	0.05342995	0.08996	-5.831	0.44844	T	.	.	0.079	0.07177	B	.	.	2.220679	0.28336	17.76	0.90590718042576435	0.19844	0.32714	0.24653	N	AEFDBCI	0.080978	0.16379	N	-0.463881499344363	0.23272	1.248528	-0.392717760883038	0.25212	1.385206	0.0372603808181577	0.14287	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-0.357	0.11953	1.121000	0.30897	2.798000	0.34835	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.974000	0.55675	0.1664:0.2872:0.3989:0.1476	2.114	0.03483	202	0.92131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1255.83	35	chr16	69119798	.	G	C	1255.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=276;ExcessHet=0;FS=6.665;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.082;SOR=1.378	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1266,0,1232	5	0	1	0
chr16	69150670	69150670	G	C	exonic	UTP4	.	nonsynonymous SNV	UTP4:NM_001318391:exon7:c.G623C:p.R208P,UTP4:NM_032830:exon7:c.G872C:p.R291P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.179054384861	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs760350216	3.215e-05	3.215e-05	3.403e-05	3.025e-05	0.0005	2.478e-05	2.22e-05	0.0001	7.541e-05	0	0	0	0	0.0001	0.0005	2.878e-05	8.279e-05	1.159e-05	5.909e-05	5.905e-05	5.139e-05	6.713e-05	8.82e-05	3.075e-05	2.208e-05	3.762e-05	2.575e-05	0	0	0	0	0	0.0002	0.0034	8.82e-05	0	0	0.007	0.61437	D	0.006	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.46	0.55266	T	-6.05	0.89796	D	0.942	0.94904	-0.5962	0.64971	T	0.226	0.59096	T	10	0.81939757	0.81154	D	0.179054	0.85397	D	0.563	0.82118	0.538	0.64874	0.768968178209	0.76685	0.8928590107996033	0.89255	0.900229685615	0.70609	0.649731576443	0.59948	T	0.379697	0.74239	T	0.213222	0.75134	D	0.198953	0.83070	D	0.96636301279068	0.67559	D	0.907909	0.67446	D	0.8765765	0.89388	0.8258948	0.89918	0.8765765	0.89389	0.8258948	0.89918	-14.08	0.93313	D	0.7855888199124084	0.86484	0.974	0.90086	P	.;.;.;.	.;.;.;.	5.414113	0.90608	31	0.9977128300959891	0.85918	0.98408	0.82470	D	AEFBCI	0.962280	0.98383	D	0.729243432158932	0.81550	7.548458	0.646462670387594	0.78349	6.858081	0.999994153173942	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.702456	0.68683	0	0.691587	0.68394	0	.	.	5.86	4.91	0.63897	8.951000	0.92928	8.661000	0.77972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0708:0.0:0.9292:0.0	14.502	0.67309	101	0.95833	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1728.83	34	chr16	69150670	.	G	C	1728.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.96;SOR=0.655	GT:AD:DP:GQ:PL	0/1:69,63:132:99:1739,0,1689	5	0	1	0
chr16	69332828	69332828	C	T	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001374871:exon4:c.G1468A:p.G490R,COG8:NM_001379261:exon4:c.G1468A:p.G490R,COG8:NM_001379262:exon4:c.G1468A:p.G490R,COG8:NM_001379263:exon4:c.G1468A:p.G490R,COG8:NM_001379264:exon4:c.G1468A:p.G490R,COG8:NM_001379265:exon4:c.G1468A:p.G490R,COG8:NM_032382:exon4:c.G1468A:p.G490R	Congenital disorder of glycosylation, type IIh	.	.	.	.	.	.	.	.	.	.	3952170	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00319776583643	.	.	4.943e-05	0	0	0.0001	0	4.496e-05	0	0.0001	3.88e-05	6	154602	rs202134146	4.31e-05	4.309e-05	4.492e-05	4.125e-05	0.0007	3.442e-05	3.129e-05	0.0002	0.0001	5.974e-05	2.236e-05	3.826e-05	0	0.0001	0.0007	3.237e-05	0.0001	6.956e-05	5.251e-05	5.249e-05	3.854e-05	6.711e-05	7.349e-05	2.555e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0	0	0	0.0002	0.0034	7.349e-05	0	0	0.564	0.06302	T	0.704	0.05642	T	0.002	0.09854	B	0.001	0.04355	B	0.000036	0.55875	D	0.159344	0.971136	0.38848	D	0	0.06538	N	1.0	0.41392	T	1.45	0.00785	N	0.044	0.01658	-1.0539	0.13332	T	0.048	0.20672	T	10	0.08085534	0.13171	T	0.003198	0.07026	T	0.050	0.13987	0.19	0.10039	0.417081434665	0.41324	0.26786364130994156	0.26699	0.165353599507	0.18651	0.378655612469	0.22066	T	0.009634	0.08763	T	-0.410739	0.01965	T	-0.646246	0.09220	T	0.0451463379090555	0.04628	T	0.806719	0.45571	T	0.09886484	0.23325	0.14327386	0.34055	0.09886484	0.23325	0.14327386	0.34054	-2.688	0.07203	T	.	.	0.097	0.15966	B	.;.;.	.;.;.	2.042577	0.25964	16.95	0.78278220849859836	0.12232	0.86041	0.45249	D	AEFBI	0.169317	0.29614	N	-0.346103170301881	0.27415	1.503974	-0.107812951046761	0.35074	2.024926	0.999997546037177	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	4.94	0.64645	2.386000	0.44034	2.868000	0.35247	0.599000	0.40250	0.973000	0.34540	0.910000	0.28117	0.635000	0.32288	0.0:0.6373:0.3627:0.0	13.127	0.58780	117	0.95266	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	929.83	39	chr16	69332828	.	C	T	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.172;DP=251;ExcessHet=0;FS=0.936;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.943;SOR=0.829	GT:AD:DP:GQ:PL	0/1:33,36:69:99:940,0,833	5	0	1	0
chr16	70174403	70174403	G	A	splicing	CLEC18C	NM_173619:exon2:c.124+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0	0	0	0	.	0	0	0	0.0001921	5	26028	rs202244675	0.0012	0.0012	0.0010	0.0013	0.0068	0.0011	0.0011	0.0063	0.0061	0.0001	0	0	2.671e-05	0.0101	0.0016	0.0005	0.0005	0.0068	0.0016	0.0014	0.0007	0.0026	0.0067	0.0014	0.0014	0.0047	0.0041	0.0003	0	0	0	0	0.0152	0	0.0004	0.0006	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0887328	0.63046	D	-0.110318	0.62586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.389316	0.95130	34	0.94867416063574017	0.25685	0.90344	0.51445	D	AEFI	.	.	.	0.816121732903105	0.87103	9.104115	0.595357962185691	0.74605	6.16577	1.0459280926952E-4	0.05123	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.709333	0.43115	4.62	4.62	0.56946	2.558000	0.45541	11.293000	0.92086	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.0:1.0:0.0	13.320	0.59864	163	0.93656	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	58.85	15	chr16	70174403	.	G	A	58.85	.	AC=2;AF=0.2;AN=10;DP=37;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=34.12;QD=29.43;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:73,6,0	4	1	0	1
chr16	70780823	70780823	C	T	exonic	VAC14	.	nonsynonymous SNV	VAC14:NM_001351157:exon8:c.G361A:p.D121N,VAC14:NM_018052:exon9:c.G1063A:p.D355N	Striatonigral degeneration, childhood-onset, Autosomal recessive	425	1096	1	0	0	1	0.000455996	.	.	.	2407176	Striatonigral_degeneration,_childhood-onset	MONDO:MONDO:0014889,MedGen:C4310743,OMIM:617054,Orphanet:497906	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.007436760881	.	.	0.0001	0	0	0	0	3.076e-05	0	0.0009	9.06e-05	14	154602	rs767382527	0.0001	0.0001	9e-05	0.0001	0.0007	9.114e-05	8.619e-05	0.0005	0.0005	0	0	0	0.0001	0	0.0005	7.029e-05	0.0001	0.0007	1.314e-05	1.313e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.097	0.30943	T	0.137	0.33894	T	0.002	0.09854	B	0.001	0.04355	B	0.007110	0.31595	N	0.380726	0.999762	0.20447	N	0.92	0.23413	L	.	.	.	-1.42	0.34992	N	0.046	0.01825	-1.0345	0.19014	T	0.123	0.42589	T	9	0.025434792	0.00738	T	0.007437	0.19739	T	0.042	0.11227	0.236	0.16608	0.043077524339	0.03247	0.357743368675408	0.35688	0.420025717159	0.42536	0.363627851009	0.19912	T	0.339528	0.70866	T	-0.568039	0.00227	T	-0.652105	0.08806	T	0.0461151748895645	0.04804	T	0.748625	0.36937	T	0.062178656	0.12957	0.048083883	0.07066	0.062178656	0.12956	0.048083883	0.07066	-3.681	0.19038	T	0.10500830335619588	0.08276	0.082	0.08948	B	.	.	1.349076	0.17565	13.24	0.99294609115282395	0.58397	0.90700	0.52096	D	AEFDBI	0.264928	0.38216	N	-0.639162244405679	0.17777	0.9176293	-0.575810208826899	0.20125	1.082843	0.999994414713143	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	3.69	0.41483	2.016000	0.40591	0.829000	0.21929	0.599000	0.40250	0.866000	0.30720	0.154000	0.23205	0.009000	0.08673	0.0:0.8319:0.0:0.1681	9.617	0.38860	473	0.77910	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1580.83	33	chr16	70780823	.	C	T	1580.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.637;DP=284;ExcessHet=0;FS=6.327;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-2.142;SOR=0.326	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1591,0,1335	5	0	1	0
chr16	72788746	72788746	G	A	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.C6788T:p.S2263L,ZFHX3:NM_006885:exon10:c.C9530T:p.S3177L	.	406	1099	17	0	0	17	0.00767494	.	.	.	726785	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.299	.	0.0040	0.00479233	0.0070	0.0012	0.0016	0.0002	0.0127	0.0073	0.0135	0.0176	0.0063647	984	154602	rs149133285	0.0066	0.0066	0.0062	0.0070	0.0165	0.0065	0.0064	0.0158	0.0155	0.0010	0.0015	0.0036	5.059e-05	0.0136	0.0032	0.0063	0.0056	0.0165	0.0044	0.0045	0.0041	0.0048	0.0147	0.0042	0.0041	0.0120	0.0110	0.0010	0	0.0014	0.0052	0.0002	0.0126	0.0068	0.0055	0.0047	0.0147	0.134	0.26300	T	0.109	0.39190	T	0.614	0.39766	P	0.091	0.29943	B	0.015144	0.28328	N	0.167464	0.999999	0.81001	D	1.24	0.30952	L	-0.76	0.73417	T	0.89	0.01641	N	0.085	0.12770	-0.6872	0.61038	T	0.122	0.42420	T	10	0.0069570243	0.00158	T	.	.	.	0.299	0.61955	.	.	0.0675242888579	0.06100	0.31363065529219614	0.31276	0.082486663882	0.09310	0.512208878994	0.40531	T	0.067121	0.33122	T	-0.319832	0.06911	T	-0.218567	0.52876	T	0.0190407235609248	0.00613	T	0.842416	0.51891	T	0.066226736	0.14229	0.07746864	0.17261	0.06979778	0.15322	0.07746864	0.17261	-3.693	0.19215	T	.	.	0.135	0.29311	B	.;.;.	.;.;.	4.132775	0.61862	24.4	0.99091553217913653	0.52222	0.91826	0.54346	D	AEFDBCIJ	.	.	.	0.0899268609035179	0.45994	2.846772	0.298987890251713	0.55482	3.711035	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.673471	0.61138	0	0.683762	0.67416	0	.	.	5.89	5.89	0.94758	5.277000	0.65396	9.962000	0.82803	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.253	0.98412	190	0.92594	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007049	0.000000	0.008152	0.011696	0.000000	0.025862	0.003049	0.003788	0.08333	1907.83	41	chr16	72788746	.	G	A	1907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.767;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.631;SOR=0.731	GT:AD:DP:GQ:PL	0/1:52,70:122:99:1918,0,1371	5	0	1	0
chr16	84101767	84101767	A	G	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon2:c.T17C:p.I6T	.	430	1077	15	0	0	15	0.00691563	.	.	.	1660957	MBTPS1-related_disorder|Spondyloepiphyseal_dysplasia,_kondo-fu_type|not_provided	.|MONDO:MONDO:0032721,MedGen:C5193071,OMIM:618392|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00319489	0.0101	0.0008	0.0030	0	0.0361	0.0129	0.0177	0.0038	0.0092431	1429	154602	rs34701895	0.0093	0.0093	0.0093	0.0094	0.0177	0.0092	0.0091	0.0149	0.0139	0.0016	0.0049	0.0037	5.038e-05	0.0325	0.0177	0.0095	0.0089	0.0040	0.0095	0.0095	0.0090	0.0101	0.0127	0.0091	0.0089	0.0120	0.0117	0.0015	0.0241	0.0065	0.0026	0	0.0335	0.0102	0.0127	0.0071	0.0037	0.391	0.10802	T	0.312	0.19599	T	0.02	0.18235	B	0.018	0.18489	B	0.005113	0.33089	N	0.355612	0.830314	0.28768	N	1.1	0.28011	L	1.41	0.33412	T	-0.15	0.82341	N	0.138	0.13626	-1.0449	0.15854	T	0.024	0.10103	T	10	0.0053536	0.00117	T	.	.	.	0.014	0.01968	.	.	.	.	0.4517386798585098	0.45091	0.049455207647	0.05415	0.604184746742	0.53495	T	0.213298	0.57457	T	-0.530541	0.00381	T	-0.520582	0.20234	T	0.00792578813983689	0.00093	T	0.69753	0.30746	T	0.023626905	0.01118	0.0472831	0.06776	0.023548719	0.01103	0.0472831	0.06776	-3.553	0.17182	T	.	.	0.117	0.23709	B	.;.	.;.	1.985030	0.25217	16.68	0.85071971645797162	0.15668	0.89986	0.50819	D	AEFBI	0.280595	0.39438	N	-0.468875365613916	0.23106	1.23843	-0.253978555040062	0.29633	1.661854	0.998649430173461	0.37371	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	2.62	0.30337	3.754000	0.54903	3.086000	0.36259	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.811:0.0:0.189:0.0	10.258	0.42586	702	0.57624	.;.	.	.	.	.	rs34701895	Likely benign	0	0	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	0.005051	0.013587	0.011696	0.000000	0.017241	0.015244	0.003788	0.1667	1391.06	33	chr16	84101767	.	A	G	1391.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.093;DP=249;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.229;SOR=0.624	GT:AD:DP:GQ:PL	0/1:31,31:62:99:787,0,777	4	0	2	0
chr16	84179605	84179605	G	A	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.C950T:p.A317V,TAF1C:NM_001243157:exon12:c.C950T:p.A317V,TAF1C:NM_001243160:exon12:c.C515T:p.A172V,TAF1C:NM_001243159:exon14:c.C719T:p.A240V,TAF1C:NM_005679:exon14:c.C1946T:p.A649V,TAF1C:NM_001243156:exon15:c.C1868T:p.A623V,TAF1C:NM_139353:exon15:c.C1664T:p.A555V	.	395	1122	4	1	0	6	0.00266667	.	.	.	2817853	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.0147665743045	0.0008	0.000599042	0.0008	0.0003	0.0002	0	0	0.0013	0.0024	0.0006	0.0008215	127	154602	rs139380627	0.0012	0.0012	0.0012	0.0012	0.0018	0.0012	0.0012	0.0014	0.0013	0.0001	0.0006	0.0015	0	5.71e-05	0.0018	0.0014	0.0011	0.0008	0.0012	0.0012	0.0012	0.0013	0.0038	0.0011	0.0010	0.0030	0.0027	0.0003	0	0.0038	0.0026	0	0	0.0068	0.0015	0.0019	0.0004	0.077	0.40068	T	0.053	0.54541	T	0.037	0.44108	B	0.012	0.41250	B	0.536896	0.05290	N	1.271510	1	0.08975	N	1.495	0.37439	L	3.6	0.05071	T	-1.19	0.30346	N	0.11	0.23380	-0.9637	0.38468	T	0.012	0.04605	T	10	0.00704208	0.00160	T	0.014767	0.35101	T	0.018	0.03083	.	.	0.156986980423	0.15292	0.12379529269135672	0.12305	.	.	0.255018651485	0.04315	T	0.007564	0.06959	T	-0.569409	0.00223	T	-0.615321	0.11556	T	0.0109394200561875	0.00157	T	0.665433	0.27458	T	0.03879356	0.05237	0.05869657	0.10888	0.03879356	0.05237	0.05869657	0.10888	-4.429	0.30665	T	.	.	0.086	0.16494	B	.;.;.;.;.	.;.;.;.;.	0.744823	0.11144	7.785	0.99575624112286032	0.72682	0.18124	0.20129	N	AEFDBCI	0.126936	0.24409	N	-0.863720242708867	0.11713	0.5668247	-0.907794979046585	0.11909	0.6096361	0.999989958459192	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.95	2.95	0.33285	2.457000	0.44662	1.652000	0.27851	-0.194000	0.09177	0.369000	0.25916	0.004000	0.18990	0.008000	0.08271	0.099:0.0:0.696:0.205	5.95	0.18476	735	0.53711	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	1678.06	46	chr16	84179605	.	G	A	1678.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.437;DP=239;ExcessHet=0.4139;FS=1.833;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=-1.05;SOR=0.836	GT:AD:DP:GQ:PL	0/1:14,23:37:99:734,0,344	4	0	2	0
chr16	85918797	85918797	T	G	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363908:exon5:c.T370G:p.F124V,IRF8:NM_001363907:exon7:c.T1012G:p.F338V,IRF8:NM_002163:exon7:c.T982G:p.F328V	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	486158	not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Immunodeficiency_32B|IRF8-related_disorder	MedGen:C3661900|MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	0.20769611581	0.0002	0.000998403	0.0012	0.0002	0.0004	0.0001	0	0.0003	0.0023	0.0070	0.001009	156	154602	rs202046728	0.0006	0.0006	0.0004	0.0008	0.0055	0.0006	0.0005	0.0051	0.0049	0.0001	0.0005	0	2.519e-05	0	0.0047	0.0002	0.0009	0.0055	0.0005	0.0005	0.0004	0.0005	0.0050	0.0004	0.0003	0.0034	0.0029	0.0002	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0050	0.02	0.55530	D	0.037	0.67890	D	0.001	0.07471	B	0.009	0.14300	B	0.009152	0.30494	N	0.401655	0.619357	0.30793	N	1.605	0.40863	L	-3.19	0.93170	D	0.35	0.05035	N	0.425	0.46649	-0.2654	0.75939	T	0.632	0.87102	D	10	0.0115574	0.00261	T	0.207696	0.87107	D	0.351	0.67234	.	.	0.658593015935	0.65573	0.3841033044616251	0.38325	0.749371048524	0.63688	0.463641107082	0.33810	T	0.517141	0.83044	D	-0.232603	0.16306	T	-0.105252	0.62988	T	0.0275112459255449	0.01618	T	0.713829	0.33319	T	0.08052185	0.18456	0.0643025	0.12868	0.06332419	0.13322	0.05643354	0.10080	-3.422	0.15354	T	0.16528918988687305	0.20481	0.161	0.46700	B	.;.;.;.	.;.;.;.	2.953947	0.39315	20.9	0.97486410063945161	0.34219	0.81664	0.41023	D	AEFGBHCI	0.386683	0.46695	N	-0.439020089020507	0.24114	1.299763	-0.355132035847008	0.26351	1.454916	0.997251064563144	0.35425	0.645754	0.44609	0	0.696144	0.67643	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.1	0.112	0.13929	0.296000	0.18839	0.261000	0.16544	0.665000	0.62972	0.974000	0.34632	0.996000	0.32793	0.974000	0.55675	0.253:0.2889:0.0:0.4582	3.736	0.08035	969	0.06854	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.017241	0.006098	0.003788	0.1667	2472.06	34	chr16	85918797	.	T	G	2472.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.099;DP=360;ExcessHet=0.4139;FS=3.069;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.775;SOR=0.909	GT:AD:DP:GQ:PL	0/1:65,48:113:99:1142,0,1915	4	0	2	0
chr16	88736210	88736210	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon12:c.G1495A:p.V499I	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	426	1085	9	2	0	13	0.00595511	.	.	.	1196174	not_provided|Inborn_genetic_diseases|PIEZO1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.177545364407	.	0.000399361	0.0005	0	0.0029	0	0	0.0007	0	0.0004	0.000207	32	154602	rs530486445	0.0009	0.0009	0.0010	0.0009	0.0079	0.0009	0.0009	0.0060	0.0054	0.0004	0.0007	0.0014	5.597e-05	0.0001	0.0079	0.0010	0.0008	0.0005	0.0007	0.0007	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0012	0.0014	0	0	0.0068	0.0010	0	0.0006	0.799	0.03125	T	0.351	0.17425	T	0.014	0.16867	B	0.005	0.11217	B	0.000024	0.55875	D	0.065276	0.699722	0.30114	N	0.63	0.15941	N	-1.82	0.84047	D	0.15	0.05310	N	0.109	0.09490	-0.7264	0.59145	T	0.340	0.70608	T	10	0.010295153	0.00230	T	0.177545	0.85296	D	0.285	0.60338	.	.	0.0675242888579	0.06100	0.08238491071398324	0.08173	.	.	0.566157817841	0.48135	T	0.00317	0.02576	T	-0.364518	0.03881	T	-0.356979	0.38403	T	0.0145007613998494	0.00295	T	0.742326	0.36163	T	0.013507873	0.00061	0.026395345	0.00727	0.013507873	0.00061	0.026395345	0.00727	-5.198	0.38921	T	.	.	0.081	0.08272	B	.	.	1.982115	0.25182	16.67	0.99570214088054965	0.72318	0.37958	0.25879	N	AEFBHCI	0.170467	0.29737	N	-0.334845440161081	0.27833	1.530253	-0.168228459271217	0.32714	1.863874	0.99998444847203	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	3.52	0.39415	0.534000	0.22807	0.199000	0.15831	-0.256000	0.07045	0.908000	0.31627	0.008000	0.19753	0.963000	0.52385	0.0:0.626:0.0:0.374	3.711	0.07949	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004310	0.000000	0.000000	0.016807	0.000000	0.000000	0.000000	0.000000	0.1667	1254.06	43	chr16	88736210	.	C	T	1254.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.38;DP=258;ExcessHet=0.4139;FS=0.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=1.6;SOR=0.588	GT:AD:DP:GQ:PL	0/1:34,19:53:99:483,0,917	4	0	2	0
chr16	88863762	88863762	C	T	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001294328:exon8:c.G743A:p.R248H,PABPN1L:NM_001385709:exon8:c.G724A:p.V242I	.	401	1118	3	0	0	3	0.00133988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.007418603037	.	.	7.685e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs754129649	6.938e-05	6.704e-05	5.136e-05	8.788e-05	0.0007	5.805e-05	5.395e-05	0.0004	0.0004	6.33e-05	2.802e-05	0	0	0	0.0007	3.615e-05	6.908e-05	0.0006	7.226e-05	7.223e-05	7.706e-05	6.724e-05	0.0006	3.97e-05	3.127e-05	0.0002	8.981e-05	4.824e-05	0	6.54e-05	0	0	9.411e-05	0	5.88e-05	0	0.0006	0.0	0.91255	D	0.059	0.45961	T	0.998	0.73220	D	0.801	0.58220	P	.	.	.	.	1	0.19781	N	.	.	.	.	.	.	-1.99	0.45949	N	0.102	0.08506	-1.0244	0.22279	T	0.061	0.25455	T	7	0.0610677	0.07599	T	0.007419	0.19685	T	0.121	0.33580	0.454	0.51775	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.270658	0.11684	T	-0.270181	0.47801	T	0.0322419626470799	0.02345	T	0.424958	0.11391	T	.	.	.	.	.	.	.	.	-4.135	0.25804	T	.	.	0.088	0.11510	B	.	.	-0.483253	0.01921	0.161	0.79017397360053321	0.12553	0.00804	0.03270	N	AEFBCI	0.016906	0.00409	N	-1.57143446848086	0.01413	0.0616215	-1.75861341519035	0.00901	0.04029479	0.999917649973834	0.45857	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.21	-8.42	0.00836	-2.910000	0.00766	-11.403000	0.00608	-0.319000	0.05888	0.006000	0.17386	0.000000	0.08366	0.051000	0.15275	0.0864:0.094:0.2737:0.546	5.225	0.14712	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1364.06	35	chr16	88863762	.	C	T	1364.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.61;DP=269;ExcessHet=0.4139;FS=4.227;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.75;SOR=0.87	GT:AD:DP:GQ:PL	0/1:34,26:60:99:659,0,828	4	0	2	0
chr16	88866361	88866361	C	G	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon3:c.G246C:p.L82F,PABPN1L:NM_001294328:exon3:c.G246C:p.L82F,PABPN1L:NM_001385709:exon3:c.G246C:p.L82F	.	377	1130	15	0	0	15	0.00659341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0067	0.00678914	0.0079	0.0023	0.0101	0	0	0.0148	0.0109	0.0023	0.0031436	486	154602	rs146771138	0.0098	0.0094	0.0097	0.0098	0.0223	0.0096	0.0096	0.0191	0.0179	0.0024	0.0133	0.0142	2.798e-05	0.0072	0.0223	0.0106	0.0105	0.0025	0.0096	0.0096	0.0098	0.0095	0.0146	0.0092	0.0090	0.0136	0.0133	0.0024	0	0.0146	0.0138	0.0002	0.0072	0.0306	0.0143	0.0114	0.0019	0.405	0.10311	T	0.668	0.06386	T	0.01	0.50336	B	0.008	0.42432	B	0.253097	0.03659	N	1.539410	1	0.08975	N	0	0.06538	N	2.7	0.12162	T	-1.15	0.30555	N	0.051	0.03613	-1.0313	0.20034	T	0.006	0.02206	T	10	0.004073918	0.00080	T	.	.	.	0.019	0.03383	0.142	0.04556	0.0401082797425	0.02173	0.07926362312666765	0.07861	0.00999591242172	0.00916	0.277724415064	0.07177	T	0.008757	0.08018	T	-0.711087	0.00031	T	-0.777947	0.02516	T	0.00569000085141165	0.00062	T	0.152385	0.03851	T	0.04209838	0.06321	0.04503431	0.05971	0.04209838	0.06321	0.04503431	0.05971	-5.191	0.41568	T	.	.	0.099	0.23952	B	.;.;.	.;.;.	-0.354339	0.02388	0.265	0.51160133314860212	0.04513	0.01813	0.05646	N	AEFDGBI	0.111747	0.22114	N	-1.77571958482515	0.00607	0.02617288	-1.92697036149558	0.00433	0.01914093	0.9999656905403	0.48965	0.580535	0.33130	0	0.759151	0.99529	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.68	-9.36	0.00533	-2.326000	0.01195	-4.577000	0.02086	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1883:0.5072:0.1893:0.1152	5.089	0.14031	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	0.013158	0.041237	0.011673	0.000000	0.000000	0.025000	0.014815	0.004950	0.25	2326.03	54	chr16	88866361	.	C	G	2326.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.506;DP=285;ExcessHet=1.383;FS=2.708;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.02;SOR=0.51	GT:AD:DP:GQ:PL	0/1:40,23:63:99:532,0,1078	3	0	3	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	118.56	35	chr17	413815	.	C	*	118.56	.	AC=1;AF=0.1;AN=10;DP=185;ExcessHet=0;FS=2.772;MLEAC=1;MLEAF=0.1;MQ=60;QD=2.76;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,13:40:99:0|1:413794_TGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC_T:223,0,972:413794	4	0	1	1
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	118.56	33	chr17	413822	.	C	*	118.56	.	AC=1;AF=0.1;AN=10;DP=179;ExcessHet=0;FS=2.772;MLEAC=1;MLEAF=0.1;MQ=60;QD=2.76;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,13:40:99:0|1:413794_TGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC_T:223,0,972:413794	4	0	1	1
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	118.56	35	chr17	413824	.	C	*	118.56	.	AC=1;AF=0.1;AN=10;DP=182;ExcessHet=0;FS=2.772;MLEAC=1;MLEAF=0.1;MQ=60;QD=2.76;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,13:40:99:0|1:413794_TGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC_T:223,0,972:413794	4	0	1	1
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H,MYBBP1A:NM_014520:exon3:c.G358C:p.D120H	.	418	1082	21	1	0	23	0.0105167	.	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.026316	0.000000	0.000000	0.003049	0.000000	0.1667	1261.06	36	chr17	4554215	.	C	G	1261.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.542;DP=242;ExcessHet=0.4139;FS=2.817;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.144;SOR=1.061	GT:AD:DP:GQ:PL	0/1:24,17:41:99:507,0,650	4	0	2	0
chr17	5444279	5444279	C	G	exonic	DHX33	.	nonsynonymous SNV	DHX33:NM_001199699:exon11:c.G1531C:p.V511L,DHX33:NM_020162:exon12:c.G2050C:p.V684L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00700795647911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.37750	T	0.431	0.15456	T	0.022	0.36638	B	0.053	0.38946	B	0.000076	0.52346	N	0.129428	0.999528	0.47407	D	1.79	0.46772	L	4.06	0.11407	T	-1.3	0.33798	N	0.099	0.15888	-1.0935	0.04974	T	0.034	0.14683	T	10	0.1486288	0.28142	T	0.007008	0.18567	T	0.051	0.14325	0.359	0.36222	0.594874987132	0.59165	0.41446656259253273	0.41362	0.293512613635	0.31773	0.519453823566	0.41549	T	0.023836	0.23026	T	-0.234044	0.16118	T	-0.573964	0.15087	T	0.322547672419926	0.25925	T	0.813419	0.50261	T	0.063225	0.13291	0.11203683	0.27031	0.063225	0.13290	0.11203683	0.27030	-5.608	0.42865	T	.	.	0.235	0.51359	B	.;.	.;.	1.920929	0.24395	16.38	0.95629214491599779	0.27408	0.89442	0.49909	D	AEFBI	0.204432	0.33087	N	-0.274458695972809	0.30139	1.677692	-0.196935141287074	0.31649	1.793091	0.59126744337202	0.21649	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.6	3.61	0.40494	2.200000	0.42358	2.757000	0.34577	-0.214000	0.08267	0.981000	0.35396	0.994000	0.32194	0.231000	0.22761	0.0:0.8496:0.1504:0.0	14.220	0.65367	623	0.65786	Domain of unknown function DUF1605;Domain of unknown function DUF1605	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2932.06	35	chr17	5444279	.	C	G	2932.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.94;DP=366;ExcessHet=0.4139;FS=0.494;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.14;SOR=0.758	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1536,0,1434	4	0	2	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	179.05	93	chr17	6800775	.	C	G	179.05	.	AC=1;AF=0.5;AN=2;BaseQRankSum=-3.103;DP=523;ExcessHet=0;FS=113.33;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=1.66;SOR=6.932	GT:AD:DP:GQ:PL	0/1:89,31:120:99:183,0,1600	0	0	1	5
chr17	7343497	7343497	G	A	exonic	ACAP1	.	nonsynonymous SNV	ACAP1:NM_014716:exon6:c.G463A:p.A155T	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0246120740439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.161	0.59732	T	0.297	0.32486	B	0.172	0.35394	B	0.000031	0.55875	D	0.117745	0.999998	0.58761	D	1.7	0.43825	L	3.26	0.06681	T	-1.86	0.43524	N	0.557	0.58202	-1.0815	0.07060	T	0.029	0.12322	T	10	0.28693867	0.46276	T	0.024612	0.47597	T	0.179	0.44899	0.467	0.53891	0.510113526977	0.50651	0.3943514466595643	0.39350	0.80725798743	0.66545	0.604625225067	0.53558	T	0.051717	0.48716	T	-0.120105	0.33105	T	-0.410299	0.32190	T	0.844903469085693	0.49732	D	0.872813	0.58002	D	0.32933894	0.55416	0.21727242	0.46387	0.32933894	0.55417	0.21727242	0.46386	-7.889	0.60311	D	.	.	0.280	0.51271	B	.;.;.	.;.;.	3.817665	0.55106	23.6	0.99523650841962152	0.69407	0.98769	0.86615	D	AEFBI	0.674448	0.64017	D	-0.0826386894142808	0.38154	2.230317	0.0237644378365437	0.40822	2.442348	0.999813374118818	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.645665	0.59343	0	.	.	5.24	4.27	0.50009	6.780000	0.74837	9.947000	0.82700	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.842:0.158	13.470	0.60726	222	0.91398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	505.83	36	chr17	7343497	.	G	A	505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.319;DP=192;ExcessHet=0;FS=1.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.482;SOR=0.993	GT:AD:DP:GQ:PL	0/1:17,17:34:99:516,0,460	5	0	1	0
chr17	7817603	7817603	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon66:c.G10063A:p.D3355N	.	428	1090	4	0	0	4	0.0018315	.	.	.	2338383	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.00466527715447	7.7e-05	0.000199681	0.0003	9.69e-05	0.0003	0	0	0.0004	0.0011	0.0004	0.0003105	48	154602	rs137983416	0.0003	0.0003	0.0002	0.0003	0.0016	0.0003	0.0002	0.0008	0.0006	5.974e-05	0.0002	0	0	3.744e-05	0.0016	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	2.408e-05	0	0.0002	0	0	0	0	0.0007	0.0014	0	0.497	0.07821	T	0.478	0.11968	T	0.0	0.02946	B	0.001	0.04355	B	0.007738	0.31228	N	0.339098	0.955513	0.26331	N	0.59	0.15444	N	1.0	0.41392	T	-0.85	0.23156	N	0.302	0.35301	-1.0694	0.09545	T	0.076	0.30429	T	10	0.036501497	0.01952	T	0.004665	0.11566	T	0.037	0.09474	.	.	0.436348499334	0.43257	0.32970557005018136	0.32883	0.264776768799	0.29030	0.416187107563	0.27311	T	0.019252	0.15372	T	-0.525629	0.00408	T	-0.584154	0.14175	T	0.0306677894774644	0.02093	T	0.614539	0.24053	T	0.068028085	0.14784	0.07447376	0.16294	0.068028085	0.14784	0.07447376	0.16294	-1.82	0.02569	T	.	.	0.086	0.15160	B	.;.;.	.;.;.	2.608180	0.33872	19.47	0.90466665645390798	0.19725	0.82136	0.41411	D	AEFDBI	0.158154	0.28377	N	-0.258741857937586	0.30756	1.717917	-0.104840288433148	0.35196	2.033306	0.572392670688966	0.21503	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	3.950000	0.56384	8.720000	0.78159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.0849:0.0:0.9151:0.0	11.373	0.48951	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1619.83	34	chr17	7817603	.	G	A	1619.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.98;DP=380;ExcessHet=0;FS=2.352;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.878;SOR=0.983	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1630,0,1752	5	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	.	.	.	.	.	.	.	.	0.1667	2785.06	36	chr17	11937502	.	G	T	2785.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.737;DP=331;ExcessHet=0.4139;FS=2.939;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.801;SOR=0.963	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1463,0,1204	4	0	2	0
chr17	14236652	14236652	G	A	exonic	CDRT15	.	nonsynonymous SNV	CDRT15:NM_001007530:exon1:c.C182T:p.T61I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00432884689102	.	.	4.467e-05	0	0	0	0	8.857e-05	0	0	3.84e-05	1	26028	rs777478173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.008	0.67890	D	0.938	0.52538	P	0.413	0.44885	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	0.61	0.53516	T	-2.57	0.55501	D	0.127	0.12055	-1.0347	0.18951	T	0.078	0.31042	T	8	0.13855246	0.26350	T	0.004329	0.10529	T	0.058	0.16647	0.173	0.07894	0.462374447365	0.45861	0.10259702981371123	0.10189	1.44073316277	0.85972	0.557602405548	0.46929	T	0.069263	0.33665	T	-0.198197	0.21066	T	-0.522473	0.20045	T	0.317711755554804	0.25729	T	0.431557	0.11736	T	0.104910016	0.24802	0.20920306	0.45255	0.104910016	0.24801	0.20920306	0.45254	-2.901	0.09153	T	.	.	0.243	0.47773	B	.	.	1.531897	0.19653	14.37	0.99598941770050065	0.74101	0.00287	0.01543	N	AEFDI	0.022181	0.01077	N	-0.713867498134481	0.15630	0.7894513	-0.944171274611104	0.11059	0.5610582	1.18417523400118E-6	0.01202	0.553676	0.25195	0	0.514364	0.08380	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.596	-0.622	0.10980	1.054000	0.30064	0.454000	0.18551	0.171000	0.17763	0.208000	0.24400	0.000000	0.08366	0.026000	0.12556	.	.	.	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	802.83	91	chr17	14236652	.	G	A	802.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.666;DP=380;ExcessHet=0;FS=0.918;MLEAC=1;MLEAF=0.083;MQ=38.23;MQRankSum=-0.037;QD=9.34;ReadPosRankSum=-0.202;SOR=0.544	GT:AD:DP:GQ:PL	0/1:55,31:86:99:813,0,1706	5	0	1	0
chr17	15706488	15706488	C	A	exonic	ZNF286A	.	nonsynonymous SNV	ZNF286A:NM_001288643:exon3:c.C198A:p.N66K,ZNF286A:NM_001130842:exon4:c.C228A:p.N76K,ZNF286A:NM_001288642:exon4:c.C357A:p.N119K,ZNF286A:NM_001369440:exon4:c.C75A:p.N25K,ZNF286A:NM_020652:exon4:c.C228A:p.N76K	.	429	1087	6	0	0	6	0.00275229	.	.	.	3360753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.0101674987852	0.0002	.	8.354e-05	0	0	0	0.0002	0.0001	0	6.488e-05	6.47e-05	10	154602	rs149952794	4.202e-05	4.241e-05	4.384e-05	4.018e-05	0.0002	3.334e-05	3.022e-05	5.488e-05	4.109e-05	0	0	0.0004	0	0.0003	0.0002	1.535e-05	0.0001	0.0001	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0002	1.714e-05	1.129e-05	1.171e-05	6.25e-06	0	0	0	0.0003	0	9.422e-05	0	4.41e-05	0	0.0002	0.065	0.78490	T	0.008	0.79402	D	0.336	0.33356	B	0.175	0.35598	B	0.030483	0.25300	N	0.194660	1	0.81001	D	4.945	0.99822	H	4.24	0.02590	T	-3.94	0.88431	D	0.69	0.69737	-1.0539	0.13332	T	0.032	0.13898	T	10	0.20111918	0.36183	T	0.010167	0.26390	T	0.163	0.42028	0.666	0.80401	0.316494231283	0.31262	0.47980457139404153	0.47900	0.140397205574	0.15837	0.69744849205	0.66775	T	0.030706	0.33142	T	-0.265168	0.12302	T	-0.435281	0.29338	T	0.508038699626923	0.32925	D	0.151185	0.01872	T	0.08778536	0.20455	0.17873809	0.40562	0.08778536	0.20455	0.17873809	0.40562	-8.119	0.62398	D	.	.	0.806	0.82973	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.277365	0.44887	22.0	0.99781447149837788	0.86780	0.44342	0.27297	N	AEFDBI	0.218642	0.34362	N	0.140788982135341	0.48377	3.05066	0.0783098892934571	0.43459	2.64726	0.0255063245779704	0.13653	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.67	3.7	0.41607	0.357000	0.19935	3.770000	0.39750	0.599000	0.40250	0.037000	0.20830	1.000000	0.68203	0.998000	0.85391	0.0:0.909:0.0:0.091	11.172	0.47806	749	0.51929	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	746.83	35	chr17	15706488	.	C	A	746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.113;SOR=0.588	GT:AD:DP:GQ:PL	0/1:28,26:54:99:757,0,717	5	0	1	0
chr17	17166687	17166687	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon16:c.C5096T:p.T1699M	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.00119808	0.0019	0	0	0	0.0073	0.0043	0	0.0003	0.0011255	174	154602	rs113660434	0.0062	0.0049	0.0064	0.0059	0.0072	0.0061	0.0060	0.0071	0.0070	0.0013	0.0027	0.0009	7.786e-05	0.0024	0.0016	0.0072	0.0058	0.0003	0.0038	0.0038	0.0042	0.0033	0.0071	0.0035	0.0034	0.0066	0.0064	0.0008	0	0.0025	0.0006	0	0.0012	0	0.0071	0.0033	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1505.83	36	chr17	17166687	.	C	T	1505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.43;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=2.08;SOR=0.631	GT:AD:DP:GQ:PL	0/1:60,56:116:99:1516,0,1468	5	0	1	0
chr17	18148547	18148547	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon31:c.C6743T:p.A2248V	Deafness, autosomal recessive 3, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	54920	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.661	.	0.0003	0.00439297	0.0093	0.0005	0.0023	0	0	0.0016	0.0104	0.0216	0.0017982	278	154602	rs199831544	0.0014	0.0014	0.0008	0.0020	0.0182	0.0013	0.0013	0.0174	0.0171	6.324e-05	5.569e-05	0.0073	0	0	0.0028	0.0002	0.0018	0.0182	0.0008	0.0008	0.0006	0.0010	0.0145	0.0007	0.0006	0.0118	0.0108	9.627e-05	0	0.0005	0.0066	0	0	0	0.0002	0.0009	0.0145	0.043	0.41364	D	0.002	0.79402	D	0.91	0.50240	P	0.335	0.42239	B	.	.	.	.	0.999897	0.50595	D	3.17	0.88688	M	-2.51	0.89293	D	-3.82	0.71997	D	0.377	0.58883	0.520	0.90822	D	0.670	0.88546	D	9	0.0093669295	0.00212	T	.	.	.	0.661	0.87332	.	.	0.779154654256	0.77711	0.7726035762880744	0.77210	.	.	0.560795664787	0.47380	T	0.128323	0.88232	T	-0.208815	0.19545	T	-0.0577883	0.66487	T	0.0954846278579105	0.11853	T	0.884712	0.60854	D	0.38575172	0.59729	0.37404418	0.62579	0.36982277	0.58572	0.40623018	0.65002	-9.642	0.71740	D	0.6357685959209678	0.70577	0.352	0.56696	A	.;.;.	.;.;.	4.075321	0.60581	24.2	0.99693189963661699	0.80112	0.92504	0.55867	D	AEFBI	0.381485	0.46373	N	0.403898352134571	0.61637	4.367414	0.395471302872952	0.61285	4.326514	0.996981160912718	0.35173	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	4.537000	0.60354	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.520	0.84159	190	0.92594	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001618	0.000000	0.000000	0.000000	0.000000	0.009615	0.000000	0.004032	0.08333	449.83	35	chr17	18148547	.	C	T	449.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.997;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=2.65;SOR=0.784	GT:AD:DP:GQ:PL	0/1:38,21:59:99:460,0,1042	5	0	1	0
chr17	18241514	18241514	C	T	exonic	LLGL1	.	nonsynonymous SNV	LLGL1:NM_004140:exon18:c.C2566T:p.R856C	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0294542512434	0.0002	.	3.354e-05	9.856e-05	0	0	0	3.046e-05	0	6.092e-05	3.23e-05	5	154602	rs370606765	6.295e-05	6.362e-05	7.897e-05	4.676e-05	8.004e-05	5.229e-05	4.847e-05	6.609e-05	6.14e-05	2.987e-05	0	0	0	0	0	8.004e-05	1.656e-05	1.159e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.802	0.58266	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.375	0.68372	M	3.27	0.06602	T	-6.76	0.92736	D	0.916	0.94904	-1.1166	0.02559	T	0.059	0.24686	T	10	0.81876063	0.81094	D	0.029454	0.51963	D	0.298	0.61843	.	.	0.539848886575	0.53637	0.7864953964946603	0.78601	1.17356924394	0.79831	0.904398441315	0.96912	D	0.871864	0.97239	D	0.072818	0.61189	D	0.0483495	0.73475	D	0.740017645168515	0.42738	D	.	.	.	0.7946897	0.83568	0.4795653	0.69856	0.7946897	0.83570	0.4795653	0.69857	-11.721	0.83466	D	.	.	0.963	0.88388	P	.;.	.;.	5.097714	0.85156	28.5	0.99919812850219358	0.98654	0.89831	0.50554	D	AEFGBHCI	0.746000	0.68850	D	0.571875087036125	0.71424	5.648722	0.516209282061567	0.69078	5.309601	0.999925475674354	0.46280	0.67177	0.52595	0	0.694456	0.67091	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.69	3.72	0.41857	4.119000	0.57638	3.367000	0.37903	0.587000	0.30956	1.000000	0.71638	0.998000	0.33993	0.986000	0.61781	0.0:0.8625:0.0:0.1375	12.198	0.53617	180	0.92993	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2961.83	74	chr17	18241514	.	C	T	2961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.577;DP=537;ExcessHet=0;FS=11.371;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.193;SOR=0.312	GT:AD:DP:GQ:PL	0/1:103,118:221:99:2972,0,2553	5	0	1	0
chr17	18355980	18355980	A	T	exonic	SHMT1	.	startloss	SHMT1:NM_004169:exon2:c.T2A:p.M1?,SHMT1:NM_148918:exon2:c.T2A:p.M1?	.	430	1082	10	0	0	10	0.00459982	.	.	.	727048	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.302	0.366792957152	0.0012	0.00159744	0.0017	9.649e-05	0.0006	0	0.0002	0.0020	0.0022	0.0035	0.00163	252	154602	rs143807950	0.0013	0.0013	0.0012	0.0014	0.0097	0.0012	0.0012	0.0077	0.0070	0.0002	0.0006	0.0108	0	7.491e-05	0.0097	0.0010	0.0020	0.0037	0.0010	0.0010	0.0011	0.0010	0.0035	0.0009	0.0008	0.0022	0.0018	0.0002	0.0044	0.0010	0.0069	0	9.42e-05	0.0068	0.0011	0.0033	0.0035	0.0	0.91255	D	0.003	0.76473	D	0.932	0.51990	P	0.888	0.63021	P	0.017431	0.27726	N	0.426630	1	0.81001	D	.	.	.	1.6	0.28604	T	0.08	0.11008	N	0.782	0.77883	-0.6305	0.63549	T	0.187	0.53676	T	9	0.0062612593	0.00329	T	0.366793	0.92648	D	0.302	0.62290	.	.	0.711987036522	0.70946	0.755027990591519	0.75449	.	.	.	.	.	0.095368	0.39606	T	-0.125489	0.32228	T	0.0445457	0.73226	D	0.0804779780247272	0.10049	T	0.9	0.65058	D	0.897815	0.91188	0.7575433	0.85673	0.897815	0.91190	0.7575433	0.85673	-10.187	0.75776	D	.	.	.	.	.	.;.;.;.	.;.;.;.	2.207519	0.28159	17.70	0.87363273167121569	0.17174	0.25323	0.22664	N	AEFBI	0.033666	0.04036	N	0.029591667677355	0.43204	2.617981	-0.0683619102116223	0.36706	2.139627	0.616448348340216	0.21847	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	1.258000	0.32547	4.376000	0.43165	0.745000	0.86679	0.109000	0.22973	1.000000	0.68203	0.032000	0.13371	1.0:0.0:0.0:0.0	14.393	0.66558	600	0.68026	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008569	0.000000	0.010870	0.023392	0.000000	0.017241	0.003049	0.000000	0.08333	636.83	31	chr17	18355980	.	A	T	636.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.396;SOR=0.487	GT:AD:DP:GQ:PL	0/1:23,23:46:99:647,0,683	5	0	1	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I,LGALS9:NM_002308:exon8:c.G579T:p.M193I,LGALS9:NM_009587:exon9:c.G675T:p.M225I	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	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	0.016060	0.005208	0.008152	0.033058	0.062500	0.000000	0.031646	0.026718	0.1667	5454.06	33	chr17	27647035	.	G	T	5454.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.144;DP=626;ExcessHet=0.4139;FS=3.222;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=11.46;ReadPosRankSum=0.548;SOR=0.515	GT:AD:DP:GQ:PL	0/1:157,117:274:99:2985,0,4292	4	0	2	0
chr17	32494815	32494815	G	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_015194:exon22:c.C2965G:p.Q989E	.	422	1088	12	0	0	12	0.00548446	.	.	.	2334396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.165	0.0108732974731	.	0.000199681	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs200185034	0.0001	0.0001	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	5.975e-05	0.0002	0.0010	0	3.755e-05	0.0033	8.905e-05	0.0004	0.0002	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	7.216e-05	0	0	0.0026	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	0.384713	0.04441	N	1.555200	0.999884	0.19853	N	-0.2	0.04182	N	1.33	0.35031	T	0.35	0.03761	N	0.068	0.04426	-0.8246	0.53645	T	0.046	0.19919	T	10	0.012643963	0.00271	T	0.010873	0.27894	T	0.165	0.42395	.	.	0.284150004643	0.28039	0.22388450696102383	0.22303	0.295359119718	0.31937	0.412352323532	0.26782	T	0.02994	0.21339	T	-0.55273	0.00281	T	-0.713662	0.05109	T	0.0204508278450645	0.00745	T	0.0687931	0.00503	T	0.019453501	0.00476	0.05317482	0.08908	0.019453501	0.00476	0.05317482	0.08907	-3.999	0.23789	T	.	.	0.083	0.09433	B	.;.	.;.	0.806839	0.11777	8.350	0.81660787995023365	0.13796	0.33110	0.24749	N	AEFDBHCI	0.162684	0.28888	N	-1.59957601846228	0.01266	0.05511708	-1.59729376006396	0.01672	0.07591856	0.999999999471569	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.07	-9.23	0.00572	1.011000	0.29513	0.285000	0.16810	-0.888000	0.02403	0.782000	0.29497	0.008000	0.19753	0.552000	0.30221	0.0814:0.1326:0.786:0.0	20.598	0.99453	939	0.14249	Class I myosin tail homology domain;Class I myosin tail homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004032	0.000000	0.001359	0.008772	0.000000	0.000000	0.012195	0.000000	0.08333	949.83	34	chr17	32494815	.	G	C	949.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.022;DP=254;ExcessHet=0;FS=4.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.34;SOR=1.193	GT:AD:DP:GQ:PL	0/1:40,38:78:99:960,0,991	5	0	1	0
chr17	35865347	35865347	G	A	exonic	HEATR9	.	nonsynonymous SNV	HEATR9:NM_001321395:exon3:c.C188T:p.P63L,HEATR9:NM_152781:exon3:c.C188T:p.P63L	.	453	1048	20	1	0	22	0.0103872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0078	0.00259585	0.0082	0.0028	0.0045	0.0001	0.0076	0.0095	0.0111	0.0137	0.0082793	1280	154602	rs141724302	0.0091	0.0091	0.0090	0.0091	0.0130	0.0089	0.0089	0.0123	0.0121	0.0015	0.0044	0.0245	5.038e-05	0.0066	0.0044	0.0094	0.0074	0.0130	0.0067	0.0067	0.0065	0.0069	0.0102	0.0063	0.0062	0.0088	0.0085	0.0020	0.0011	0.0049	0.0259	0.0002	0.0061	0.0136	0.0094	0.0071	0.0102	.	.	.	0.0	0.92824	D	0.326	0.62824	B	0.022	0.55167	B	0.026539	0.25904	N	0.279802	0.945607	0.26656	N	2.175	0.60977	M	0.84	0.57419	T	.	.	.	0.319	0.38746	-1.0174	0.24560	T	0.097	0.36393	T	10	0.003746748	0.00070	T	.	.	.	.	.	.	.	0.335164054921	0.33125	0.1183154124894414	0.11758	.	.	.	.	.	0.062881	0.32031	T	-0.453073	0.01083	T	-0.409958	0.32230	T	0.0304862646701763	0.02064	T	0.739426	0.35812	T	0.06350819	0.13378	0.13715151	0.32792	0.06350819	0.13378	0.13715151	0.32791	-2.93	0.09446	T	.	.	0.083	0.29670	B	.;.;.	.;.;.	1.511006	0.19414	14.25	0.91711669961026165	0.21006	0.14469	0.18419	N	AEFDGBCI	0.057825	0.10803	N	-0.372956293311932	0.26436	1.442789	-0.409491509021192	0.24719	1.355181	0.902468241525288	0.26127	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.27	2.18	0.26813	0.922000	0.28351	2.274000	0.31851	0.676000	0.76740	0.203000	0.24344	0.994000	0.32194	0.450000	0.27895	0.0:0.1912:0.6108:0.198	7.096	0.24490	449	0.79428	.;.;.	.	.	.	.	rs141724302	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.08333	1600.83	35	chr17	35865347	.	G	A	1600.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.45;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.186;SOR=0.673	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1611,0,1347	5	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	3282.55	76	chr17	37257713	.	C	T	3282.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.842;DP=421;ExcessHet=11.5949;FS=462.603;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.71;SOR=10.961	GT:AD:DP:GQ:PL	0/1:23,45:68:99:718,0,169	0	0	6	0
chr17	39214269	39214269	T	C	exonic	STAC2	.	nonsynonymous SNV	STAC2:NM_001351360:exon8:c.A479G:p.K160R,STAC2:NM_198993:exon8:c.A905G:p.K302R	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00961022670831	0.0038	0.000998403	0.0027	0.0007	0.0018	0	0.0003	0.0044	0.0011	0.0004	0.0030853	477	154602	rs79968874	0.0052	0.0052	0.0054	0.0049	0.0063	0.0051	0.0050	0.0061	0.0061	0.0008	0.0020	0.0028	0	0.0005	0.0024	0.0063	0.0052	0.0005	0.0031	0.0031	0.0034	0.0028	0.0050	0.0029	0.0028	0.0046	0.0044	0.0016	0	0.0020	0.0029	0	0.0005	0.0034	0.0050	0.0052	0.0004	0.437	0.09346	T	0.221	0.25827	T	0.999	0.77913	D	0.996	0.84481	D	0.000002	0.62929	D	0.056171	0.996922	0.43508	D	0.035	0.08059	N	1.0	0.41392	T	-1.38	0.34198	N	0.305	0.34444	-1.0267	0.21527	T	0.086	0.33466	T	10	0.020850867	0.00488	T	0.00961	0.25130	T	0.195	0.47612	.	.	0.563873649602	0.56049	0.42853757149955524	0.42770	0.516753251321	0.49562	0.62697994709	0.56717	T	0.059677	0.31181	T	-0.347689	0.04874	T	-0.2689	0.47930	T	0.0175535971238021	0.00489	T	0.851715	0.53598	D	0.38021097	0.59332	0.24482717	0.49958	0.44682375	0.63841	0.2702353	0.52911	-6.596	0.51022	T	0.2631071747427153	0.35499	0.086	0.10787	B	.	.	4.927665	0.81218	27.5	0.998393990317611	0.91972	0.31796	0.24427	N	AEFDGBCIJ	0.522992	0.54678	D	0.272290393196863	0.54750	3.639754	0.327424170507449	0.57156	3.880547	0.999999880732311	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	4.94	4.94	0.64645	3.666000	0.54277	4.211000	0.42532	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.720	0.62200	592	0.68746	SH3 domain|SH3 domain|SH3 domain|SH3 domain|Stac2, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1276.83	33	chr17	39214269	.	T	C	1276.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.45;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.027;SOR=0.732	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1287,0,1618	5	0	1	0
chr17	40771767	40771767	T	C	exonic	KRT26	.	nonsynonymous SNV	KRT26:NM_181539:exon1:c.A347G:p.K116R	.	213	1267	38	4	0	46	0.0178295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	0.0075	0.00658946	0.0057	0.0060	0.0095	0	0.0030	0.0071	0.0154	0.0008	0.0058537	905	154602	rs73985745	0.0064	0.0064	0.0065	0.0063	0.0480	0.0063	0.0062	0.0434	0.0416	0.0078	0.0133	0.0045	2.519e-05	0.0031	0.0480	0.0064	0.0093	0.0019	0.0073	0.0073	0.0074	0.0072	0.0152	0.0070	0.0068	0.0136	0.0130	0.0067	0	0.0152	0.0052	0	0.0034	0.0850	0.0070	0.0199	0.0012	0.738	0.03719	T	1.0	0.01155	T	0.021	0.18474	B	0.033	0.22329	B	0.085901	0.20617	N	0.457146	0.999999	0.08975	N	0.785	0.19527	N	-2.43	0.88689	D	-0.42	0.14193	N	0.029	0.00666	-0.8368	0.52858	T	0.175	0.51943	T	10	0.0031479	0.00053	T	.	.	.	0.189	0.46613	.	.	0.107399877778	0.10242	0.1611539058247978	0.16036	0.0485114265384	0.05301	0.221727177501	0.01412	T	0.08056	0.36391	T	-0.474816	0.00794	T	-0.444429	0.28313	T	0.0121325218385867	0.00193	T	0.812119	0.46368	T	0.106534496	0.25190	0.09714654	0.23110	0.106534496	0.25190	0.09714654	0.23110	-2.273	0.04410	T	.	.	0.061	0.01143	B	.	.	1.576479	0.20177	14.63	0.77690536024044898	0.11981	0.11077	0.16392	N	AEFBI	0.085033	0.17236	N	-0.82592548095977	0.12649	0.6179554	-0.69317081673292	0.17130	0.9095219	8.35221505880896E-4	0.07887	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.72	4.62	0.56946	0.837000	0.27212	1.043000	0.23573	0.665000	0.62972	0.017000	0.19353	0.001000	0.17328	0.895000	0.43227	0.0:0.0814:0.1525:0.7661	6.962	0.23781	63	0.97314	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	rs73985745	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.055388	0.136364	0.065217	0.046784	0.000000	0.060345	0.015244	0.000000	0.08333	2301.83	35	chr17	40771767	.	T	C	2301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.493;DP=358;ExcessHet=0;FS=1.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.62;SOR=0.572	GT:AD:DP:GQ:PL	0/1:85,90:175:99:2312,0,2458	5	0	1	0
chr17	41379065	41379065	A	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.T1114A:p.C372S	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0053	0.00479233	0.0014	0.0143	0.0010	0	0	0.0001	0.0022	0.0001	0.0013648	211	154602	rs61740669	0.0005	0.0006	0.0006	0.0005	0.0168	0.0005	0.0005	0.0156	0.0152	0.0168	0.0012	0	7.557e-05	0	0.0017	8.724e-05	0.0011	9.275e-05	0.0050	0.0050	0.0054	0.0045	0.0166	0.0047	0.0046	0.0156	0.0152	0.0166	0	0.0028	0	0	0	0.0068	0.0002	0.0033	0.0002	0.016	0.51853	D	0.514	0.10678	T	0.005	0.12996	B	0.023	0.19966	B	0.785802	0.09435	N	0.906875	1	0.08975	N	0.685	0.16464	N	-2.27	0.87433	D	-8.89	0.97914	D	0.1	0.08227	-1.0543	0.13225	T	0.022	0.09284	T	9	0.004361868	0.00089	T	.	.	.	0.032	0.07718	0.458	0.52427	0.0884992946249	0.08302	0.09294836828802878	0.09226	0.0458086973962	0.04975	0.359180390835	0.19266	T	0.393735	0.75306	T	-0.519214	0.00445	T	-0.506267	0.21699	T	0.0326622246871618	0.02415	T	0.0337966	0.00223	T	0.10558425	0.24963	0.09465126	0.22414	0.10558425	0.24963	0.09465126	0.22414	-5.341	0.40347	T	.	.	0.068	0.02861	B	.	.	-1.629993	0.00226	0.003	0.48299187062238635	0.04019	0.05918	0.11871	N	AEFDGBI	0.163281	0.28955	N	-1.99505642046439	0.00217	0.009294421	-2.0757036593676	0.00210	0.009269279	0.999272507259044	0.38974	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	-10.1	0.00330	-1.939000	0.01636	-20.000000	0.00162	-1.306000	0.01239	0.000000	0.06391	0.000000	0.08366	0.684000	0.33659	0.4904:0.2688:0.069:0.1719	3.585	0.07518	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002569	0.000000	0.004076	0.000000	0.000000	0.008621	0.003067	0.000000	0.08333	1286.83	33	chr17	41379065	.	A	T	1286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.878;DP=383;ExcessHet=0;FS=0.643;MLEAC=1;MLEAF=0.083;MQ=58.42;MQRankSum=-9.865;QD=6.34;ReadPosRankSum=-1.914;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,44:203:99:0|1:41379065_A_T:1297,0,6478:41379065	5	0	1	0
chr17	41379105	41379105	G	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.C1074A:p.S358R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00819434024655	.	0.000199681	8.237e-06	0	0	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs200168141	8.893e-06	2.873e-05	6.806e-06	1.1e-05	0.0007	4.96e-06	3.82e-06	0.0002	0.0001	0	6.71e-05	0	0	0	0.0007	4.497e-06	1.656e-05	0	2.626e-05	7.874e-05	2.57e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	5.279e-05	2.833e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.692	0.04277	T	0.364	0.16766	T	0.001	0.07471	B	0.008	0.13708	B	0.084399	0.20699	N	0.518682	0.999985	0.18198	N	0.965	0.23975	L	-2.42	0.88611	D	-1.6	0.38540	N	0.137	0.13484	-1.0474	0.15130	T	0.035	0.15030	T	9	0.049883753	0.04641	T	0.008194	0.21700	T	0.013	0.01715	0.381	0.39807	0.259761712551	0.25597	0.12595782708830233	0.12521	0.0437824951073	0.04714	0.330992251635	0.15085	T	0.229538	0.59538	T	-0.157641	0.27124	T	-0.464217	0.26141	T	0.0221948705122513	0.00931	T	0.0763924	0.00561	T	0.08094296	0.18573	0.076308526	0.16888	0.08094296	0.18573	0.076308526	0.16887	-8.624	0.65248	D	.	.	0.398	0.59454	A	.	.	0.251793	0.06311	2.769	0.81121332009785729	0.13529	0.26919	0.23130	N	AEFDGBI	0.131567	0.25055	N	-1.17309250043056	0.05410	0.2465632	-1.1413586850399	0.06924	0.3349708	0.00915357893409859	0.11806	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.672	0.17103	-1.124000	0.03372	-1.003000	0.06640	-0.721000	0.03806	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.148:0.132:0.4776:0.2425	2.594	0.04554	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	122.83	33	chr17	41379105	.	G	T	122.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.279;DP=324;ExcessHet=0;FS=14.121;MLEAC=1;MLEAF=0.083;MQ=58.17;MQRankSum=-11.97;QD=0.85;ReadPosRankSum=-3.607;SOR=2.712	GT:AD:DP:GQ:PL	0/1:130,15:145:99:133,0,4237	5	0	1	0
chr17	41489411	41489411	G	-	exonic	KRT36	.	frameshift deletion	KRT36:NM_003771:exon1:c.454delC:p.Q152Rfs*5	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.000798722	0.0012	9.615e-05	0.0003	0	0.0021	0.0018	0	0.0003	0.0001921	5	26028	rs543374682	0.0014	0.0014	0.0014	0.0013	0.0016	0.0013	0.0013	0.0015	0.0015	0.0001	0.0004	3.828e-05	0	0.0026	0.0003	0.0016	0.0014	0.0004	0.0012	0.0012	0.0012	0.0013	0.0022	0.0011	0.0010	0.0019	0.0018	7.214e-05	0	0.0004	0	0	0.0028	0	0.0022	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2327.79	34	chr17	41489410	.	TG	T	2327.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=336;ExcessHet=0;FS=2.287;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=2.1;SOR=0.927	GT:AD:DP:GQ:PL	0/1:67,68:135:99:2338,0,2270	5	0	1	0
chr17	41523789	41523789	C	T	exonic	KRT19	.	nonsynonymous SNV	KRT19:NM_002276:exon6:c.G1157A:p.G386E	.	49	1472	1	0	0	1	0.000339559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.561960874467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.985	0.61118	D	0.911	0.64720	D	0.005667	0.32605	N	0.140362	0.999988	0.54805	D	3.19	0.88972	M	-4.88	0.98296	D	-6.34	0.90937	D	0.332	0.37301	1.090	0.99226	D	0.966	0.98927	D	10	0.8320266	0.82364	D	0.561961	0.96005	D	0.845	0.95175	0.709	0.84509	0.97686281105	0.97661	0.6406596733130545	0.64000	1.51082159887	0.87234	.	.	.	0.951798	0.99311	D	0.26061	0.79585	D	0.136572	0.79321	D	0.990442931652069	0.80665	D	0.959904	0.84889	D	0.7822758	0.82793	0.7600127	0.85820	0.7822758	0.82795	0.7600127	0.85821	-9.457	0.70591	D	.	.	0.359	0.57136	A	.	.	3.324096	0.45731	22.2	0.99742552199865309	0.83629	0.91682	0.54040	D	AEFBHCI	0.788737	0.71814	D	0.568564110072225	0.71218	5.617757	0.463114913866148	0.65562	4.839656	0.999999999505266	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.631631	0.49550	0	.	.	5.03	4.05	0.46415	2.066000	0.41078	2.216000	0.31409	-0.194000	0.09177	1.000000	0.71638	1.000000	0.68203	0.578000	0.30845	0.0:0.6867:0.3133:0.0	12.896	0.57491	408	0.82256	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	.	.	.	.	.	.	.	.	0.08333	1776.83	37	chr17	41523789	.	C	T	1776.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=331;ExcessHet=0;FS=3.971;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.801;SOR=0.627	GT:AD:DP:GQ:PL	0/1:78,63:141:99:1787,0,2044	5	0	1	0
chr17	44075340	44075340	G	A	exonic	G6PC3	.	nonsynonymous SNV	G6PC3:NM_001384165:exon5:c.G221A:p.R74Q,G6PC3:NM_138387:exon5:c.G566A:p.R189Q,G6PC3:NM_001384166:exon6:c.G221A:p.R74Q,G6PC3:NM_001384167:exon6:c.G221A:p.R74Q,G6PC3:NM_001384168:exon6:c.G221A:p.R74Q	Dursun syndrome, Autosomal recessive;Neutropenia, severe congenital 4, autosomal recessive, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	YES	256184	not_specified|Autosomal_recessive_severe_congenital_neutropenia_due_to_G6PC3_deficiency	MedGen:CN169374|MONDO:MONDO:0012930,MedGen:C2751630,OMIM:612541,Orphanet:331176	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.085	0.0347021088263	0.0010	0.000599042	0.0006	0.0023	0.0016	0	0	0.0004	0.0022	6.056e-05	0.0005369	83	154602	rs140294222	0.0004	0.0004	0.0004	0.0003	0.0031	0.0003	0.0003	0.0020	0.0017	0.0013	0.0014	3.826e-05	5.038e-05	0	0.0031	0.0003	0.0010	6.956e-05	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0013	0.0012	0.0016	0	0.0017	0	0	0	0.0068	0.0003	0.0043	0.0002	0.492	0.07944	T	0.491	0.25987	T	0.019	0.17989	B	0.008	0.13708	B	0.324157	0.14221	N	0.694222	0.642318	0.30605	N	1.895	0.50365	L	-0.91	0.75001	T	-0.53	0.16393	N	0.712	0.71498	-0.9252	0.44829	T	0.158	0.49094	T	10	0.008648664	0.00196	T	0.034702	0.55851	D	0.085	0.24743	.	.	0.43912465853	0.43530	0.18031501957428608	0.17950	0.352166808134	0.37058	0.309144586325	0.11778	T	0.606203	0.87452	D	-0.411089	0.01955	T	-0.369445	0.36952	T	0.00723247619867478	0.00083	T	0.725627	0.33984	T	0.09658571	0.22752	0.06916071	0.14538	0.10251412	0.24223	0.06441636	0.12905	-3.928	0.22723	T	0.13156623734328174	0.13948	0.078	0.10014	B	.;.	.;.	1.946726	0.24726	16.50	0.98064356103550987	0.37975	0.49068	0.28349	N	AEFGBCI	0.102890	0.20627	N	-0.718236640060728	0.15510	0.7822345	-0.544780002391415	0.20944	1.130749	0.999563400618358	0.40425	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.27	3.31	0.37025	1.124000	0.30934	1.232000	0.25050	0.676000	0.76740	0.236000	0.24706	0.049000	0.21787	0.908000	0.44358	0.1681:0.0:0.8319:0.0	9.284	0.36905	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1183.83	37	chr17	44075340	.	G	A	1183.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.83;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.028;SOR=0.667	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1194,0,1189	5	0	1	0
chr17	45290657	45290657	G	A	exonic	MAP3K14	.	nonsynonymous SNV	MAP3K14:NM_003954:exon2:c.C89T:p.P30L	.	.	.	.	.	.	.	.	.	.	.	1922996	not_specified|NIK_deficiency	MedGen:CN169374|MONDO:MONDO:0018642,MedGen:C5680065,Orphanet:447731	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	.	.	.	7.454e-05	0	8.645e-05	0.0001	0	8.993e-05	0	6.056e-05	5.82e-05	9	154602	rs780884476	3.284e-05	3.283e-05	3.267e-05	3.301e-05	0.0007	2.543e-05	2.249e-05	0.0002	0.0001	0	8.944e-05	0	0	0	0.0007	2.878e-05	8.282e-05	3.478e-05	4.62e-05	4.599e-05	6.446e-05	2.704e-05	8.835e-05	2.118e-05	1.532e-05	3.767e-05	2.579e-05	0	0	6.584e-05	0	0	0	0	8.835e-05	0	0	.	.	.	0.074	0.42976	T	0.082	0.24665	B	0.007	0.12992	B	0.685688	0.10219	N	0.852326	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.06990	-1.0207	0.23486	T	0.080	0.31586	T	7	0.048900902	0.04403	T	.	.	.	0.035	0.08770	0.193	0.10437	0.101711395817	0.09552	0.20859785998675281	0.20775	.	.	0.264124453068	0.05392	T	0.225323	0.59001	T	-0.293075	0.09330	T	-0.433056	0.29589	T	0.27300238609314	0.23875	T	0.562944	0.19809	T	0.03444202	0.03864	0.04128363	0.04657	0.03444202	0.03864	0.04128363	0.04657	-3.146	0.11832	T	.	.	0.060	0.01428	B	.;.;.;.	.;.;.;.	0.533767	0.09024	5.807	0.71637914216505738	0.09697	0.09378	0.15146	N	AEFBCI	.	.	.	-1.51291941691022	0.01764	0.07727521	-1.52945977226423	0.02120	0.09704639	0.999387321968371	0.39415	0.139865	0.03177	0	0.178	0.04075	0	0.175069	0.04249	0	0.195515	0.04268	0	0.112758	0.23879	5.81	-0.529	0.11307	0.849000	0.27375	0.200000	0.15841	-1.566000	0.00940	0.041000	0.21027	0.032000	0.21310	0.001000	0.02609	0.2354:0.0:0.3769:0.3877	7.310	0.25643	566	0.70798	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1148.83	37	chr17	45290657	.	G	A	1148.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=316;ExcessHet=0;FS=0.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.886;SOR=0.769	GT:AD:DP:GQ:PL	0/1:81,50:131:99:1159,0,1969	5	0	1	0
chr17	47708814	47708897	CCCCCGTGCCAGTCCCCCGTCCCCCAGCGCCGCTCTCCCGTGCCCCCGTGCCCCTCGCCGCAGCAGCGCCGCTCTCCGGCCTCA	-	exonic	TBKBP1	.	nonframeshift deletion	TBKBP1:NM_014726:exon8:c.1081_1164del:p.P362_P389del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	61.44	1	chr17	47708813	.	CCCCCCGTGCCAGTCCCCCGTCCCCCAGCGCCGCTCTCCCGTGCCCCCGTGCCCCTCGCCGCAGCAGCGCCGCTCTCCGGCCTCA	C	61.44	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.981;DP=31;ExcessHet=0;FS=5.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=1.07;SOR=0.027	GT:AD:DP:GQ:PL	0/1:5,2:7:71:71,0,202	5	0	1	0
chr17	50548318	50548318	C	T	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.C113T:p.T38M,SPATA20:NM_022827:exon3:c.C161T:p.T54M	.	418	1102	1	1	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00823412057003	0.0002	0.000199681	0.0005	0.0001	0	0	0.0008	0.0008	0.0012	0.0001	0.0004916	76	154602	rs200398203	0.0008	0.0008	0.0008	0.0008	0.0007	0.0007	0.0007	0.0007	0.0007	0.0002	0.0002	0.0058	0.0001	0.0010	0.0005	0.0007	0.0011	0.0003	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0001	0	0.0003	0.0046	0	0.0005	0	0.0009	0.0009	0	0.011	0.55530	D	0.149	0.33894	T	0.993	0.65571	D	0.545	0.49043	P	0.779891	0.06648	N	1.117700	1	0.30426	N	0.55	0.14455	N	1.92	0.23486	T	-0.49	0.16393	N	0.398	0.43899	-1.0321	0.19777	T	0.050	0.21300	T	10	0.007062793	0.00161	T	0.008234	0.21801	T	0.090	0.26093	.	.	0.333154297509	0.32921	0.4282390430144596	0.42740	0.595903518009	0.54850	0.418891131878	0.27684	T	0.068048	0.33357	T	-0.433865	0.01406	T	-0.479026	0.24549	T	0.195240646600723	0.20149	T	0.857114	0.54640	D	0.046034068	0.07637	0.046353687	0.06442	0.046034068	0.07637	0.046353687	0.06441	-4.944	0.40785	T	.	.	0.113	0.22171	B	.;.;.	.;.;.	2.297809	0.29402	18.11	0.98043451673512116	0.37805	0.31486	0.24349	N	AEFDGBCI	0.147099	0.27069	N	-0.256895352834447	0.30828	1.72274	-0.299660115106044	0.28111	1.564745	0.999999762677816	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.606735	0.37207	0	0.727631	0.95156	0	.	.	4.69	3.71	0.41733	2.560000	0.45559	3.092000	0.36283	0.599000	0.40250	0.026000	0.20160	0.066000	0.22130	0.807000	0.38039	0.0:0.8069:0.1931:0.0	10.713	0.45192	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.08333	2638.83	39	chr17	50548318	.	C	T	2638.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=375;ExcessHet=0;FS=2.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.06;SOR=0.485	GT:AD:DP:GQ:PL	0/1:83,94:177:99:2649,0,2201	5	0	1	0
chr17	56350808	56350808	T	G	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon4:c.T240G:p.H80Q,ANKFN1:NM_001365758:exon5:c.T27G:p.H9Q,ANKFN1:NM_001370326:exon5:c.T231G:p.H77Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00285779741616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.989e-05	5.5e-07	1.5e-07	.	.	2.989e-05	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.05551	T	1.0	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.000738	0.42129	D	0.283505	0.909231	0.27542	N	0.55	0.14455	N	2.03	0.28391	T	-0.3	0.11913	N	0.16	0.18649	-0.9836	0.34164	T	0.018	0.07423	T	10	0.05370623	0.05604	T	0.002858	0.06015	T	0.055	0.15663	0.159	0.06287	0.495103902096	0.49147	0.38254031959210855	0.38169	0.136113371255	0.15346	0.468614161015	0.34489	T	0.001451	0.01158	T	-0.302401	0.08434	T	-0.672155	0.07470	T	0.11569107256836	0.14004	T	0.746125	0.36895	T	0.05432778	0.10408	0.037628125	0.03456	0.05432778	0.10408	0.037628125	0.03456	-4.08	0.24994	T	.	.	0.139	0.45532	B	.;.;.;.	.;.;.;.	1.268902	0.16672	12.69	0.95758380143390642	0.27744	0.45465	0.27545	N	AEFBI	0.104183	0.20852	N	-0.642975362944973	0.17665	0.9109423	-0.440029368195221	0.23833	1.30178	1.73893627934013E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.57	1.91	0.24841	0.728000	0.25682	0.310000	0.17073	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.998000	0.85391	0.1155:0.1457:0.2854:0.4534	2.072	0.03396	385	0.83500	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1610.83	33	chr17	56350808	.	T	G	1610.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.25;DP=282;ExcessHet=0;FS=6.088;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-1.201;SOR=0.332	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1621,0,1519	5	0	1	0
chr17	57839817	57839817	G	C	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon5:c.C539G:p.P180R	.	426	1095	1	0	0	1	0.000456413	.	.	.	2337068	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0039582226563	.	.	0.0002	0	0.0004	0.0001	0	0.0002	0.0011	0.0004	0.0001876	29	154602	rs775090743	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0008	0.0002	0	0	0.0016	8.184e-05	0.0003	0.0003	9.199e-05	9.194e-05	7.707e-05	0.0001	0.0004	5.527e-05	4.365e-05	0.0002	0.0001	2.413e-05	0	0.0004	0	0	0	0	0.0001	0	0	0.304	0.14303	T	0.714	0.05452	T	0.112	0.26290	B	0.039	0.23607	B	0.536883	0.05290	N	1.239090	1	0.08975	N	1.59	0.40313	L	.	.	.	-0.77	0.21429	N	0.12	0.11054	-0.9990	0.30199	T	0.084	0.32729	T	9	0.03813505	0.02212	T	0.003958	0.09368	T	0.067	0.19503	0.098	0.01383	0.15556083564	0.15200	0.2853159349349469	0.28444	0.245618253609	0.27089	0.230621412396	0.02014	T	0.022154	0.17132	T	-0.492827	0.00627	T	-0.578096	0.14715	T	0.0239572918254104	0.01139	T	0.325967	0.06723	T	0.029948242	0.02575	0.03758274	0.03441	0.029948242	0.02574	0.03758274	0.03440	-4.403	0.29598	T	.	.	0.072	0.04436	B	.	.	2.005854	0.25488	16.78	0.43697319157163672	0.03308	0.14861	0.18623	N	AEFBI	0.054443	0.09900	N	-0.745566945080117	0.14755	0.7376541	-0.714269617065893	0.16606	0.8792429	0.602096846665568	0.21734	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	3.83	0.43287	1.612000	0.36501	1.850000	0.29250	0.676000	0.76740	0.006000	0.17386	0.010000	0.20010	0.017000	0.10941	0.0:0.0:0.6649:0.3351	11.589	0.50193	132	0.94697	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1005.83	36	chr17	57839817	.	G	C	1005.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.891;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.219;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,28:81:99:0|1:57839816_A_C:1016,0,2121:57839816	5	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	220.57	67	chr17	59737489	.	A	C	220.57	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.594;DP=346;ExcessHet=1.383;FS=296.711;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=0.115;SOR=8.189	GT:AD:DP:GQ:PL	0/1:43,20:63:99:100,0,819	1	0	3	2
chr17	75650701	75650701	-	G	exonic	RECQL5	.	frameshift insertion	RECQL5:NM_001003715:exon9:c.1246dupC:p.H416Pfs*11	.	423	1097	1	1	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.682e-05	0	0	0	0	1.622e-05	0	0.0001	1.94e-05	3	154602	rs771207358	1.71e-05	1.71e-05	1.361e-05	2.063e-05	0.0010	1.174e-05	9.92e-06	0.0005	0.0003	0	4.475e-05	3.827e-05	0	0	0.0010	7.195e-06	0	9.282e-05	2.626e-05	2.625e-05	3.854e-05	1.342e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0102	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	3260.03	36	chr17	75650701	.	T	TG	3260.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.506;DP=387;ExcessHet=0.4139;FS=1.012;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.476;SOR=0.771	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1596,0,1611	4	0	2	0
chr17	76019575	76019575	G	A	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon10:c.C1090T:p.P364S,EVPL:NM_001988:exon10:c.C1090T:p.P364S	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0105130517923	7.7e-05	.	2.597e-05	0	8.717e-05	0	0	3.087e-05	0	0	1.94e-05	3	154602	rs142325371	3.467e-05	3.489e-05	3.311e-05	3.626e-05	4.992e-05	2.667e-05	2.407e-05	3.192e-05	2.855e-05	0	4.992e-05	0	0	0	0	4.164e-05	3.361e-05	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.767	0.03412	T	0.7	0.05727	T	0.0	0.02946	B	0.001	0.04355	B	0.262305	0.15290	N	0.648376	1	0.08975	N	0.2	0.09183	N	-0.13	0.64818	T	-0.84	0.22944	N	0.133	0.13626	-1.0265	0.21593	T	0.127	0.43462	T	10	0.07978752	0.12876	T	0.010513	0.27131	T	0.033	0.08068	.	.	0.572657343838	0.56932	0.12355921584755222	0.12281	0.190360239417	0.21353	0.259074985981	0.04782	T	0.101405	0.40812	T	-0.367135	0.03741	T	-0.581749	0.14390	T	0.0224518118135236	0.00960	T	0.579642	0.20943	T	0.025908604	0.01582	0.05608827	0.09957	0.025908604	0.01582	0.05608827	0.09956	-4.113	0.25481	T	.	.	0.076	0.05935	B	.;.	.;.	0.554265	0.09227	6.011	0.19764380923918079	0.00682	0.07986	0.13967	N	AEFBI	0.124032	0.23990	N	-0.986442374776398	0.08893	0.4187227	-1.02719125857189	0.09190	0.4558017	9.3565276753294E-5	0.04910	0.59774	0.34471	0	0.573888	0.26702	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.92	0.246	0.14777	0.563000	0.23250	1.052000	0.23646	0.676000	0.76740	0.058000	0.21700	0.000000	0.08366	0.028000	0.12845	0.0866:0.2471:0.3134:0.3529	2.720	0.04876	701	0.57775	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	822.83	42	chr17	76019575	.	G	A	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.676;DP=214;ExcessHet=0;FS=1.114;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=0.243;SOR=0.512	GT:AD:DP:GQ:PL	0/1:18,32:50:99:833,0,485	5	0	1	0
chr17	76077279	76077279	G	C	exonic	GALR2	.	nonsynonymous SNV	GALR2:NM_003857:exon2:c.G1012C:p.E338Q	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0453743956177	.	.	1.444e-05	0	0.0002	0	0	0	0	0	3.84e-05	1	26028	rs780558089	4.077e-05	4.241e-05	3.849e-05	4.307e-05	0.0002	3.211e-05	2.94e-05	3.814e-05	3.416e-05	0	4.546e-05	0	0	0	0.0002	4.869e-05	3.335e-05	0	2.627e-05	2.626e-05	3.853e-05	1.344e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.175	0.22400	T	0.355	0.17217	T	0.3	0.32550	B	0.039	0.23607	B	0.711803	0.10007	N	0.815721	0.837754	0.28673	N	1.445	0.36358	L	-0.43	0.69657	T	-0.17	0.09627	N	0.141	0.14054	-0.9773	0.35616	T	0.162	0.49731	T	10	0.18290445	0.33593	T	0.045374	0.61950	D	0.127	0.34888	.	.	0.838210945588	0.83666	0.29125288954173384	0.29038	.	.	0.555613040924	0.46648	T	0.055713	0.30084	T	-0.302103	0.08462	T	-0.492044	0.23177	T	0.104930850163065	0.12890	T	0.564843	0.19943	T	0.14841773	0.33885	0.15215322	0.35810	0.14841773	0.33884	0.15215322	0.35809	-3.541	0.17010	T	.	.	0.108	0.20352	B	.	.	2.519122	0.32546	19.08	0.98534660466077417	0.42632	0.94059	0.59989	D	AEFDGBHCI	0.724573	0.67383	D	-0.418150752087694	0.24833	1.343689	-0.343332047312881	0.26715	1.477477	0.999999979608643	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.74	3.75	0.42236	4.370000	0.59288	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:0.3072:0.6928:0.0	13.139	0.58843	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	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1606.83	39	chr17	76077279	.	G	C	1606.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.44;DP=335;ExcessHet=0;FS=5.201;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.489;SOR=0.931	GT:AD:DP:GQ:PL	0/1:85,56:141:99:1617,0,2227	5	0	1	0
chr17	76094483	76094483	C	T	exonic	EXOC7	.	nonsynonymous SNV	EXOC7:NM_001282313:exon5:c.G616A:p.V206I,EXOC7:NM_001013839:exon6:c.G739A:p.V247I,EXOC7:NM_001145297:exon6:c.G739A:p.V247I,EXOC7:NM_001145298:exon6:c.G739A:p.V247I,EXOC7:NM_001145299:exon6:c.G739A:p.V247I,EXOC7:NM_001375974:exon6:c.G739A:p.V247I,EXOC7:NM_001375975:exon6:c.G739A:p.V247I,EXOC7:NM_001375976:exon6:c.G739A:p.V247I,EXOC7:NM_015219:exon6:c.G739A:p.V247I	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0040545225228	0.0011	0.000399361	0.0008	9.612e-05	0.0004	0	0.0008	0.0013	0.0033	0	0.0007697	119	154602	rs145623846	0.0009	0.0009	0.0009	0.0009	0.0010	0.0008	0.0008	0.0010	0.0009	2.987e-05	0.0007	0.0016	0	0.0005	0.0005	0.0010	0.0010	2.319e-05	0.0008	0.0008	0.0009	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0007	0.0009	0	9.434e-05	0	0.0013	0.0014	0.0002	0.389	0.12552	T	0.445	0.13328	T	0.006	0.13644	B	0.009	0.18489	B	0.000056	0.53742	D	0.128081	0.806554	0.47363	D	0.17	0.09006	N	.	.	.	-0.21	0.13418	N	0.247	0.33030	-1.0245	0.22246	T	0.099	0.36932	T	9	0.019647568	0.00441	T	0.004055	0.09650	T	0.047	0.12962	.	.	0.533375117726	0.52987	0.12893110359720628	0.12818	0.338961400606	0.35858	0.538347184658	0.44213	T	0.155868	0.49779	T	-0.447834	0.01163	T	-0.440687	0.28730	T	0.0134408622980118	0.00244	T	0.89861	0.64536	D	0.09712054	0.22888	0.051316157	0.08232	0.09712054	0.22887	0.051316157	0.08232	-2.644	0.11492	T	.	.	0.067	0.03372	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.609105	0.51017	23.0	0.98897115806428515	0.48109	0.91320	0.53296	D	AEFDBCI	0.564230	0.57110	D	-0.363868886146749	0.26765	1.463287	-0.154799347362054	0.33224	1.898293	0.999976444876896	0.50053	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	2.952000	0.48790	.	.	0.596000	0.33519	0.992000	0.37556	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.969	0.79789	681	0.59854	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	766.83	33	chr17	76094483	.	C	T	766.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.154;DP=245;ExcessHet=0;FS=9.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=2.01;SOR=0.85	GT:AD:DP:GQ:PL	0/1:40,34:74:99:777,0,997	5	0	1	0
chr17	78890831	78890831	G	A	exonic	CEP295NL	.	nonsynonymous SNV	CEP295NL:NM_001243540:exon3:c.C1673T:p.T558M,CEP295NL:NM_001243541:exon3:c.C1499T:p.T500M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0142313520964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978770019	2.431e-05	2.326e-05	2.54e-05	2.32e-05	0.0003	1.75e-05	1.544e-05	0.0001	9.112e-05	0.0003	0	0	0.0001	0	0	1.668e-05	1.724e-05	2.524e-05	5.915e-05	5.91e-05	6.424e-05	5.382e-05	0.0002	3.078e-05	2.211e-05	0.0001	8.459e-05	0.0002	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.096	0.39340	T	0.593	0.39147	P	0.09	0.29851	B	0.164788	0.03066	N	1.864250	0.999998	0.08975	N	.	.	.	1.81	0.25182	T	-1.19	0.30346	N	0.072	0.05037	-1.0147	0.25432	T	0.039	0.16677	T	9	0.055319637	0.06028	T	0.014231	0.34206	T	0.032	0.07718	.	.	0.16115917748	0.15686	0.03961275245163661	0.03907	.	.	0.288346499205	0.08683	T	0.040078	0.25406	T	-0.527477	0.00397	T	-0.665459	0.07902	T	0.331562489271164	0.26287	T	0.451355	0.12777	T	0.035929035	0.04322	0.062366176	0.12191	0.035929035	0.04322	0.062366176	0.12190	-4.968	0.36490	T	.	.	0.121	0.27283	B	.;.	.;.	0.974790	0.13522	10.04	0.995630441483905	0.71892	0.08956	0.14805	N	ALL	0.033806	0.04077	N	-0.89503916129412	0.10960	0.5263986	-1.04724580833228	0.08764	0.4325209	0.999999999965591	0.74766	0.372202	0.05800	0	0.607795	0.50457	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.17	-1.47	0.08312	-0.336000	0.07908	-0.237000	0.10625	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2566:0.3323:0.4111:0.0	4.881	0.13037	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	.	.	.	.	.	.	.	.	0.08333	1539.83	33	chr17	78890831	.	G	A	1539.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.503;DP=322;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=2.14;SOR=0.668	GT:AD:DP:GQ:PL	0/1:78,62:140:99:1550,0,2090	5	0	1	0
chr17	79737219	79737219	A	G	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon4:c.A1205G:p.N402S	.	423	1050	46	3	0	52	0.0241636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	.	0.0021	0.00439297	0.0049	0.0004	0.0068	0.0001	0.0011	0.0037	0.0088	0.0140	0.003978	615	154602	rs148504454	0.0030	0.0030	0.0025	0.0035	0.0345	0.0029	0.0029	0.0306	0.0291	0.0013	0.0033	0.0008	5.038e-05	0.0016	0.0345	0.0022	0.0049	0.0133	0.0024	0.0024	0.0023	0.0025	0.0139	0.0022	0.0021	0.0112	0.0102	0.0006	0.0011	0.0036	0.0017	0	0.0009	0.0204	0.0027	0.0047	0.0139	0.042	0.41637	D	0.06	0.55759	T	.	.	.	.	.	.	0.000013	0.62929	D	0.107917	0.97117	0.38851	D	.	.	.	-1.27	0.81640	T	-3.78	0.71519	D	0.311	0.35088	-0.4144	0.71570	T	0.316	0.68566	T	10	0.0114685595	0.00250	T	.	.	.	0.363	0.68319	.	.	0.678820268726	0.67608	0.8019497746686944	0.80148	0.271583772953	0.29678	0.260539412498	0.04955	T	0.485718	0.81251	T	-0.45022	0.01126	T	-0.408455	0.32402	T	0.0712710769880274	0.08828	T	0.830517	0.49623	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.39425	B	.;.	.;.	2.445970	0.31491	18.76	0.99673268891014699	0.78717	0.90093	0.51004	D	AEFBCI	0.886620	0.81816	D	0.0800277301162812	0.45531	2.808124	-0.0453504094764763	0.37692	2.210384	0.767705452842803	0.23617	0.516011	0.20929	0	0.610034	0.51514	0	0.586423	0.30347	0	0.542086	0.14980	0	.	.	3.07	1.97	0.25278	5.895000	0.69554	6.686000	0.56326	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.8997:0.0:0.1003:0.0	8.173	0.30425	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023690	0.005051	0.029891	0.044118	0.000000	0.034483	0.009146	0.018939	0.08333	907.83	34	chr17	79737219	.	A	G	907.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.202;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.841;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,34:68:99:918,0,1033	5	0	1	0
chr17	81447231	81447231	T	C	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.T3359C:p.L1120P,BAHCC1:NM_001291324:exon12:c.T3452C:p.L1151P	.	406	1112	4	0	0	4	0.00179533	.	.	.	3185407	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0014	0.00339457	0.0060	0.0009	0.0012	0	0.0399	0.0057	0.0124	0.0001	0.0034217	529	154602	rs191224872	0.0044	0.0044	0.0050	0.0039	0.0026	0.0043	0.0042	0.0024	0.0024	0.0008	0.0008	0.0024	0	0.0307	0.0013	0.0026	0.0038	9.7e-05	0.0038	0.0038	0.0031	0.0046	0.0028	0.0036	0.0035	0.0025	0.0023	0.0004	0.0593	0.0005	0.0020	0	0.0283	0	0.0028	0.0028	0.0002	0.222	0.18823	T	0.303	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.892444	0.08678	N	0.936716	0.99992	0.19486	N	.	.	.	1.48	0.31731	T	-0.13	0.08971	N	0.028	0.11340	-1.0034	0.28933	T	0.017	0.06902	T	10	0.0031389594	0.00052	T	.	.	.	0.071	0.20720	.	.	0.0762999501168	0.06990	0.2181747744228814	0.21733	0.137879382062	0.15542	0.466342836618	0.34180	T	0.225461	0.59020	T	-0.504446	0.00540	T	-0.497386	0.22619	T	0.000566347415817984	0.00005	T	0.539146	0.18332	T	0.053144302	0.10015	0.07583128	0.16735	0.053144302	0.10014	0.07583128	0.16735	-2.868	0.08828	T	.	.	0.063	0.02313	B	.;.	.;.	1.832180	0.23282	15.96	0.74533949412862499	0.10731	0.02019	0.06066	N	AEFDBCI	0.058178	0.10895	N	-1.04926282079916	0.07602	0.3536977	-1.02441795244786	0.09249	0.4590963	0.0302329944323123	0.13931	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.19	1.92	0.24912	-0.306000	0.08217	2.120000	0.30714	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.063000	0.16184	0.0:0.2396:0.3991:0.3613	3.841	0.08425	.	.	.;.	.	.	.	.	rs191224872	Likely benign	0	0	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	0.002528	0.010309	0.004087	0.000000	0.000000	0.008929	0.003086	0.000000	0.08333	909.83	38	chr17	81447231	.	T	C	909.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=263;ExcessHet=0;FS=0.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.03;SOR=0.536	GT:AD:DP:GQ:PL	0/1:33,34:67:99:920,0,777	5	0	1	0
chr17	82520042	82520042	C	T	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon1:c.C154T:p.R52C	.	472	1044	6	0	0	6	0.00286533	.	.	.	610472	not_provided|Premature_ovarian_insufficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.63785358001	0.0044	0.00199681	0.0038	0.0015	0.0032	0	0.0018	0.0055	0.0072	0.0016	0.0031759	491	154602	rs146516291	0.0047	0.0046	0.0049	0.0045	0.0053	0.0046	0.0046	0.0052	0.0052	0.0012	0.0036	0.0030	3.166e-05	0.0018	0.0036	0.0053	0.0047	0.0021	0.0037	0.0037	0.0037	0.0037	0.0068	0.0034	0.0033	0.0057	0.0053	0.0010	0	0.0068	0.0044	0	0.0024	0	0.0054	0.0015	0.0015	0.047	0.40319	D	0.112	0.37037	T	0.999	0.77913	D	0.772	0.56930	P	0.000003	0.62929	U	0.000000	0.999843	0.49770	D	0.895	0.22405	L	1.25	0.36512	T	-3.09	0.63438	D	0.344	0.38541	-1.1021	0.03846	T	0.067	0.27468	T	10	0.008000493	0.00182	T	0.637854	0.96906	D	0.234	0.53644	.	.	0.479466957844	0.47577	0.8517850827362373	0.85140	2.50374879105	0.97662	0.817937076092	0.84712	D	0.53292	0.83869	D	0.0309919	0.55856	T	0.27297	0.86740	D	0.0352724272889134	0.02855	T	0.927407	0.73262	D	0.2886949	0.51870	0.21817738	0.46511	0.2886949	0.51870	0.21817738	0.46510	-10.567	0.77231	D	.	.	0.774	0.76121	P	.	.	4.123439	0.61646	24.4	0.99873166464470431	0.95076	0.34924	0.25182	N	AEFDBHCI	0.397623	0.47362	N	0.0443036584654081	0.43881	2.672473	-0.0157698715275802	0.39002	2.306035	0.999999967480258	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	3.51	1.46	0.21769	3.040000	0.49489	3.156000	0.36547	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.616000	0.31793	0.1701:0.7359:0.0:0.094	7.124	0.24641	.	.	Forkhead-associated (FHA) 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	0.004028	0.010101	0.006793	0.005882	0.000000	0.000000	0.003049	0.003788	0.08333	198.83	33	chr17	82520042	.	C	T	198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=153;ExcessHet=0;FS=3.419;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=-1.431;SOR=1.483	GT:AD:DP:GQ:PL	0/1:23,10:33:99:209,0,520	5	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	.	.	.	.	.	.	.	.	0.1	59.7	26	chr18	2732448	.	G	A	59.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.132;DP=257;ExcessHet=0;FS=64.771;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=2.11;SOR=6.183	GT:AD:DP:GQ:PL	0/1:46,21:67:69:69,0,753	4	0	1	1
chr18	6965342	6965342	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.C7141T:p.R2381C	Poretti-Boltshauser syndrome, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	704663	not_provided|LAMA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.479	0.0417537146561	0.0012	0.00279553	0.0024	0.0004	0.0009	0	0	0.0023	0.0044	0.0075	0.0024838	384	154602	rs142063208	0.0028	0.0028	0.0026	0.0030	0.0082	0.0027	0.0027	0.0077	0.0075	0.0005	0.0010	7.652e-05	5.038e-05	0.0004	0.0033	0.0028	0.0023	0.0082	0.0017	0.0017	0.0017	0.0016	0.0070	0.0015	0.0015	0.0052	0.0045	0.0006	0	0.0020	0	0.0002	0.0005	0	0.0023	0.0024	0.0070	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.958	0.70027	D	0.000251	0.46924	D	0.144445	0.999987	0.54805	D	3.235	0.89610	M	-1.08	0.77078	T	-5.51	0.85921	D	0.734	0.73465	0.264	0.86976	D	0.603	0.85894	D	10	0.016408682	0.00346	T	0.041754	0.60099	D	0.479	0.77012	.	.	0.895094079211	0.89405	0.5673563880096925	0.56663	0.61600168912	0.56077	0.489292055368	0.37339	T	0.531587	0.83800	D	-0.115198	0.33911	T	0.067018	0.74711	D	0.128730265391643	0.15264	T	0.854814	0.54193	D	0.34251603	0.56479	0.45183823	0.68109	0.28303096	0.51337	0.4219648	0.66113	-11.508	0.82372	D	0.7391288558217808	0.82112	0.306	0.53495	B	.	.	5.264119	0.88388	29.6	0.99940578074191	0.99767	0.94786	0.62325	D	AEFBI	0.765320	0.70184	D	0.859237228385765	0.89628	10.05011	0.83897627390301	0.92355	11.37934	0.999998149110575	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	4.366000	0.59265	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.879	0.99870	865	0.32612	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.007576	0.08333	994.83	39	chr18	6965342	.	G	A	994.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=293;ExcessHet=0;FS=0.714;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.439;SOR=0.596	GT:AD:DP:GQ:PL	0/1:76,42:118:99:1005,0,1885	5	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	36132.4	408	chr18	9887397	.	C	*	36132.4	.	AC=2;AF=0.2;AN=10;BaseQRankSum=5.43;DP=2619;ExcessHet=0;FS=0.787;MLEAC=2;MLEAF=0.2;MQ=58.83;MQRankSum=2.47;QD=19.7;ReadPosRankSum=0.022;SOR=0.548	GT:AD:DP:GQ:PL	0/1:24,148:367:99:10006,4902,6829	3	0	2	1
chr18	12277151	12277151	G	A	exonic	CIDEA	.	nonsynonymous SNV	CIDEA:NM_001279:exon5:c.G541A:p.A181T,CIDEA:NM_001318383:exon5:c.G643A:p.A215T	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.0170247334183	0.0032	0.000798722	0.0021	0.0007	0.0008	0	0.0006	0.0029	0.0022	0.0026	0.0023738	367	154602	rs115278913	0.0036	0.0036	0.0036	0.0035	0.0041	0.0035	0.0034	0.0040	0.0040	0.0006	0.0008	0.0014	2.519e-05	0.0020	0.0023	0.0041	0.0031	0.0023	0.0025	0.0024	0.0027	0.0021	0.0041	0.0022	0.0022	0.0037	0.0036	0.0006	0.0175	0.0010	0.0014	0	0.0018	0	0.0041	0.0014	0.0025	0.088	0.32296	T	0.022	0.57587	D	1.0	0.90584	D	0.996	0.84481	D	0.000173	0.48594	N	0.135969	0.999259	0.46462	D	2.175	0.60977	M	-1.24	0.78967	T	-0.86	0.23372	N	0.232	0.26111	0.116	0.84461	D	0.574	0.84599	D	10	0.011509091	0.00251	T	0.017025	0.38558	T	0.407	0.71946	.	.	0.63955945867	0.63658	0.3365839814280524	0.33571	0.0989611105025	0.11181	0.371055006981	0.20983	T	0.141378	0.47641	T	-0.265868	0.12221	T	-0.150112	0.59234	T	0.0298699351061735	0.01970	T	0.673733	0.28234	T	0.052613948	0.09838	0.098015755	0.23352	0.052613948	0.09837	0.098015755	0.23351	-3.701	0.19333	T	.	.	0.097	0.15609	B	.	.	2.399263	0.30823	18.55	0.99857333442822738	0.93639	0.76498	0.37522	D	AEFDGBI	0.062109	0.11917	N	0.327373623061769	0.57556	3.923553	0.206437788681891	0.50203	3.214945	0.999999990433295	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.55458	0.18720	0	0.613276	0.41899	0	.	.	4.87	3.99	0.45527	2.297000	0.43254	2.595000	0.33490	0.676000	0.76740	0.985000	0.35982	0.997000	0.33255	0.658000	0.32913	0.1024:0.0:0.8976:0.0	9.062	0.35603	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	1115.83	34	chr18	12277151	.	G	A	1115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.161;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.305;SOR=0.687	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1126,0,1060	5	0	1	0
chr18	13116385	13116385	A	G	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon43:c.A7298G:p.D2433G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00941870165092	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459419786	4.11e-06	4.104e-06	1.363e-06	6.886e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.02	0.58613	D	.	.	.	.	.	.	0.002763	0.35968	N	0.293295	0.999965	0.18878	N	.	.	.	3.31	0.06291	T	-2.83	0.59710	D	0.494	0.52740	-1.0503	0.14313	T	0.023	0.09878	T	10	0.3818214	0.54250	T	0.009419	0.24693	T	0.137	0.36984	.	.	0.449474494731	0.44571	0.45428174925077996	0.45346	0.367735961394	0.38336	0.341391682625	0.16647	T	0.082873	0.36927	T	-0.0917946	0.37780	T	-0.369633	0.36932	T	0.951705873012543	0.63622	D	0.70183	0.31167	T	0.13916868	0.32158	0.1021993	0.24488	0.13916868	0.32157	0.1021993	0.24488	-3.739	0.19895	T	.	.	0.102	0.17869	B	.;.	.;.	1.727586	0.21986	15.43	0.99178137229410157	0.54585	0.85216	0.44329	D	AEFBI	0.480731	0.52233	N	-0.0229241201889724	0.40818	2.430703	-0.0379634348559805	0.38015	2.233791	0.998999497677086	0.38161	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	3.261000	0.51233	5.778000	0.49786	-0.181000	0.10308	0.978000	0.35038	1.000000	0.68203	0.004000	0.06068	1.0:0.0:0.0:0.0	14.280	0.65753	512	0.75040	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	987.06	24	chr18	13116385	.	A	G	987.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.63;DP=211;ExcessHet=0.4139;FS=4.204;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.049;SOR=1.196	GT:AD:DP:GQ:PL	0/1:25,25:50:99:686,0,641	4	0	2	0
chr18	13746298	13746298	T	A	exonic	RNMT	.	nonsynonymous SNV	RNMT:NM_001378132:exon8:c.T684A:p.N228K,RNMT:NM_001378134:exon8:c.T1218A:p.N406K,RNMT:NM_001378135:exon8:c.T1218A:p.N406K,RNMT:NM_001308263:exon9:c.T1218A:p.N406K,RNMT:NM_003799:exon9:c.T1218A:p.N406K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00284342970162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.05899	T	0.916	0.02917	T	0.014	0.16867	B	0.02	0.19048	B	0.013786	0.28730	N	0.428927	0.66627	0.33099	D	-0.625	0.02162	N	.	.	.	-0.94	0.25118	N	0.291	0.33140	-0.9754	0.36037	T	0.024	0.10239	T	9	0.0581685	0.06798	T	0.002843	0.05956	T	0.094	0.27141	0.415	0.45380	0.261217442401	0.25729	0.33841462012339785	0.33754	0.285941018328	0.31003	0.441241592169	0.30746	T	0.024338	0.18409	T	-0.244371	0.14796	T	-0.588798	0.13769	T	0.142745152115822	0.16509	T	0.80282	0.44919	T	0.17397603	0.38175	0.11765705	0.28401	0.17397603	0.38175	0.11765705	0.28401	-7.303	0.56217	T	.	.	0.120	0.36889	B	.;.;.;.;.	.;.;.;.;.	1.700623	0.21659	15.30	0.83049473681918529	0.14515	0.79351	0.39304	D	AEFGBI	0.092879	0.18799	N	-0.796120001259072	0.13411	0.6604495	-0.56706654028791	0.20354	1.096247	0.836610804700243	0.24790	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	0.914	0.18488	0.504000	0.22335	-0.065000	0.12373	-0.165000	0.11486	0.998000	0.41325	0.002000	0.18203	0.997000	0.79791	0.0:0.2066:0.2046:0.5888	6.238	0.19985	707	0.57054	mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;.;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase 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	.	.	.	.	.	.	.	.	0.1667	1219.06	33	chr18	13746298	.	T	A	1219.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.05;DP=252;ExcessHet=0.4139;FS=0.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=2.12;SOR=0.62	GT:AD:DP:GQ:PL	0/1:22,19:41:99:471,0,589	4	0	2	0
chr18	23601272	23601272	C	T	exonic	ANKRD29	.	nonsynonymous SNV	ANKRD29:NM_001308238:exon9:c.G761A:p.R254H,ANKRD29:NM_173505:exon10:c.G860A:p.R287H	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.013438856657	0.0018	0.00139776	0.0018	0.0006	0.0016	0.0002	0	0.0020	0.0066	0.0031	0.001727	267	154602	rs143279851	0.0019	0.0019	0.0017	0.0020	0.0324	0.0018	0.0018	0.0286	0.0272	0.0007	0.0028	0.0025	2.52e-05	0.0001	0.0324	0.0016	0.0039	0.0031	0.0020	0.0020	0.0018	0.0022	0.0053	0.0018	0.0018	0.0044	0.0040	0.0005	0	0.0053	0.0029	0	0.0002	0.0479	0.0021	0.0061	0.0046	.	.	.	0.186	0.28860	T	0.066	0.26116	B	0.01	0.19966	B	0.000148	0.49130	N	0.217301	0.99043	0.41774	D	0.485	0.13215	N	0.2	0.68329	T	.	.	.	0.093	0.16308	-1.0412	0.16951	T	0.086	0.33522	T	10	0.003341049	0.00058	T	0.013439	0.32845	T	0.036	0.09122	.	.	0.434160288164	0.43035	0.6621810322012781	0.66155	0.861703014694	0.68993	0.293593078852	0.09449	T	0.016855	0.13851	T	-0.504587	0.00539	T	-0.500631	0.22282	T	0.0272328357487026	0.01577	T	0.847115	0.52772	T	0.055065364	0.10651	0.04435256	0.05729	0.055065364	0.10650	0.04435256	0.05728	-4.316	0.28400	T	.	.	0.176	0.38462	B	.;.	.;.	1.876110	0.23830	16.17	0.9670629043199368	0.30795	0.05600	0.11505	N	AEFBI	0.070855	0.14081	N	-0.613046999935828	0.18551	0.9640484	-0.530462593776473	0.21327	1.153236	0.868652186960861	0.25369	0.549168	0.22868	0	0.588066	0.40923	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.96	2.21	0.27042	0.241000	0.17843	-0.212000	0.10844	0.599000	0.40250	0.230000	0.24643	0.000000	0.08366	0.996000	0.76049	0.0:0.6724:0.0:0.3276	7.571	0.27071	506	0.75555	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	0.030211	0.030303	0.028533	0.061404	0.000000	0.051724	0.015244	0.003788	0.08333	1184.83	33	chr18	23601272	.	C	T	1184.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.165;DP=261;ExcessHet=0;FS=0.812;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.374;SOR=0.602	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1195,0,790	5	0	1	0
chr18	24014931	24014931	-	GCG	exonic	TTC39C	.	nonframeshift insertion	TTC39C:NM_001135993:exon1:c.60_61insGCG:p.A25_P26insA,TTC39C:NM_001243425:exon1:c.60_61insGCG:p.A25_P26insA	.	330	1164	26	1	1	29	0.0118846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	.	0.0062	0	0.0074	0	0	0.0071	0.0083	0.0064	0.0006147	16	26028	rs779205034	0.0018	0.0018	0.0017	0.0020	0.0237	0.0018	0.0017	0.0205	0.0192	0.0006	0.0031	0.0060	0.0002	0.0001	0.0237	0.0014	0.0037	0.0056	0.0021	0.0021	0.0018	0.0023	0.0086	0.0019	0.0018	0.0065	0.0058	0.0004	0	0.0055	0.0066	0	0.0003	0.0451	0.0018	0.0067	0.0086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030928	0.021429	0.000000	0.082192	0.000000	0.000000	0.008197	0.000000	0.08333	917.79	34	chr18	24014931	.	A	AGCG	917.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=221;ExcessHet=0;FS=1.051;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=1.05;SOR=0.527	GT:AD:DP:GQ:PL	0/1:28,25:53:99:928,0,1093	5	0	1	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	.	.	.	.	.	.	.	.	0.5	390.92	30	chr18	31541297	.	G	A	390.92	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-1.345;DP=224;ExcessHet=0.9691;FS=159.341;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=3.46;ReadPosRankSum=0.904;SOR=7.7	GT:AD:DP:GQ:PL	0/1:40,26:66:99:172,0,599	0	0	2	4
chr18	36146364	36146364	C	T	exonic	ELP2	.	stopgain	ELP2:NM_001242879:exon8:c.C898T:p.Q300X,ELP2:NM_001242877:exon10:c.C1030T:p.Q344X,ELP2:NM_001324468:exon10:c.C661T:p.Q221X,ELP2:NM_001324466:exon11:c.C1225T:p.Q409X,ELP2:NM_001324467:exon11:c.C1108T:p.Q370X,ELP2:NM_018255:exon11:c.C1108T:p.Q370X,ELP2:NM_001242875:exon12:c.C1303T:p.Q435X	Mental retardation, autosomal recessive 58, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004564	0.33608	N	0.332856	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.908	0.90932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.	.;.;High;.	9.661602	0.99187	42	0.99480083370379724	0.66850	0.98183	0.80324	D	AEFGBI	0.119427	0.23310	N	0.822512475288492	0.87492	9.236885	0.668213490342101	0.79972	7.197026	0.999978628248845	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	4.72	0.59248	5.343000	0.65746	5.895000	0.50812	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8495:0.1505:0.0	14.236	0.65471	912	0.21483	WD40-repeat-containing domain;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1091.83	38	chr18	36146364	.	C	T	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.247;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.039;SOR=0.743	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1102,0,1090	5	0	1	0
chr18	36199814	36199814	G	A	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.G431A:p.R144H	Xanthinuria, type II, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	1127226	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.263	0.0185619323915	0.0018	0.000599042	0.0004	0.0045	8.645e-05	0	0	1.504e-05	0	0	0.0003687	57	154602	rs141483411	0.0001	0.0001	0.0001	9.763e-05	0.0036	9.266e-05	8.731e-05	0.0031	0.0029	0.0036	0.0002	0	2.519e-05	1.873e-05	0	4.496e-06	0.0003	3.478e-05	0.0013	0.0013	0.0014	0.0013	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0005	0	0.0002	9.416e-05	0.0068	0	0	0	0.8	0.03117	T	0.731	0.05146	T	0.003	0.11197	B	0.003	0.08700	B	0.175184	0.03141	N	1.590360	1	0.08975	N	0.995	0.25082	L	-2.15	0.86481	D	0.23	0.04613	N	0.049	0.02088	-0.6968	0.60591	T	0.405	0.75529	T	10	0.0100905895	0.00226	T	0.018562	0.40664	T	0.263	0.57612	.	.	0.601307451256	0.59812	0.29384607172841604	0.29297	0.094433556557	0.10659	0.207037031651	0.00692	T	0.051876	0.29003	T	-0.505681	0.00531	T	-0.49751	0.22607	T	0.0100304632258765	0.00134	T	0.324768	0.06643	T	0.024188593	0.01226	0.026310228	0.00713	0.024188593	0.01226	0.026310228	0.00713	-1.87	0.02726	T	0.11721766159409595	0.10682	0.060	0.01011	B	.	.	-0.536132	0.01755	0.132	0.84333854483777182	0.15231	0.11406	0.16613	N	AEFBCI	0.085240	0.17279	N	-1.69939941649127	0.00844	0.03650588	-1.82179528065405	0.00692	0.03080909	0.999999999556065	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.54	-10.1	0.00330	-0.104000	0.10893	-0.755000	0.07560	-1.909000	0.00517	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.3194:0.0858:0.5088:0.086	6.093	0.19228	863	0.32847	Aminotransferase class V 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	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3412.06	35	chr18	36199814	.	G	A	3412.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=475;ExcessHet=0.4139;FS=2.701;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.866;SOR=0.869	GT:AD:DP:GQ:PL	0/1:64,81:145:99:2280,0,1612	4	0	2	0
chr18	49286571	49286571	G	A	exonic	DYM	.	nonsynonymous SNV	DYM:NM_001374441:exon4:c.C239T:p.A80V,DYM:NM_001374442:exon4:c.C239T:p.A80V,DYM:NM_001374443:exon4:c.C236T:p.A79V,DYM:NM_001374444:exon4:c.C239T:p.A80V,DYM:NM_001374440:exon7:c.C581T:p.A194V,DYM:NM_001374432:exon8:c.C683T:p.A228V,DYM:NM_001374436:exon8:c.C683T:p.A228V,DYM:NM_001353210:exon9:c.C806T:p.A269V,DYM:NM_001353211:exon9:c.C806T:p.A269V,DYM:NM_001353212:exon9:c.C806T:p.A269V,DYM:NM_001353213:exon9:c.C806T:p.A269V,DYM:NM_001353214:exon9:c.C809T:p.A270V,DYM:NM_001353215:exon9:c.C809T:p.A270V,DYM:NM_001353216:exon9:c.C809T:p.A270V,DYM:NM_001374429:exon9:c.C803T:p.A268V,DYM:NM_001374430:exon9:c.C809T:p.A270V,DYM:NM_001374431:exon9:c.C809T:p.A270V,DYM:NM_001374433:exon9:c.C809T:p.A270V,DYM:NM_001374434:exon9:c.C809T:p.A270V,DYM:NM_001374435:exon9:c.C806T:p.A269V,DYM:NM_001374438:exon9:c.C806T:p.A269V,DYM:NM_001374439:exon9:c.C803T:p.A268V,DYM:NM_017653:exon9:c.C809T:p.A270V,DYM:NM_001374428:exon10:c.C809T:p.A270V	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1372142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.0550475317727	.	.	2.484e-05	0	0	0	0	4.516e-05	0	0	1.94e-05	3	154602	rs753827775	1.505e-05	1.505e-05	1.225e-05	1.788e-05	0.0002	9.85e-06	8.41e-06	5.85e-05	3.758e-05	0.0001	6.708e-05	0	0	0	0.0002	9.893e-06	3.312e-05	0	5.257e-05	5.253e-05	5.139e-05	5.38e-05	0.0003	2.557e-05	1.83e-05	0.0001	8.291e-05	4.824e-05	0	0.0003	0	0	0	0	1.47e-05	0	0	0.31	0.17410	T	0.305	0.20037	T	0.009	0.15093	B	0.003	0.11217	B	0.013476	0.28831	N	0.428162	0.985667	0.40317	D	1.245	0.31408	L	-1.5	0.81318	D	-0.57	0.17210	N	0.204	0.22614	-0.6290	0.63613	T	0.352	0.71565	T	10	0.10890016	0.20293	T	0.055048	0.66086	D	0.267	0.58126	0.45	0.51121	0.642757676758	0.63980	0.29965280743331796	0.29878	0.0727192281206	0.08147	0.303616404533	0.10943	T	0.307925	0.69727	T	-0.231829	0.16406	T	-0.334114	0.41009	T	0.0301969666033983	0.02019	T	0.685131	0.32115	T	0.02726001	0.01892	0.04317107	0.05311	0.02726001	0.01892	0.04317107	0.05310	-5.329	0.40229	T	0.12697893414049852	0.12920	0.069	0.04599	B	.;.;.;.;.;.	.;.;.;.;.;.	1.611450	0.20591	14.82	0.77523539448921452	0.11911	0.83376	0.42498	D	AEFBI	0.125506	0.24204	N	-0.506649831870198	0.21864	1.163458	-0.414890100039531	0.24561	1.34558	0.682163348166184	0.22492	0.706298	0.61202	0	0.724815	0.89359	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.81	4.05	0.46415	4.031000	0.56978	4.534000	0.43737	-0.103000	0.15852	0.853000	0.30494	0.999000	0.35428	0.018000	0.11154	0.1327:0.1215:0.7458:0.0	9.066	0.35628	958	0.09170	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	377.83	32	chr18	49286571	.	G	A	377.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.656;DP=216;ExcessHet=0;FS=2.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=2.18;SOR=0.323	GT:AD:DP:GQ:PL	0/1:22,18:40:99:388,0,634	5	0	1	0
chr19	740436	740436	G	A	exonic	PALM	.	nonsynonymous SNV	PALM:NM_002579:exon8:c.G587A:p.R196Q	.	377	1111	30	4	0	38	0.0168142	.	.	.	1621028	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0034	0.00179712	0.0070	0.0019	0.0025	0	0	0.0056	0.0110	0.0108	0.0025873	400	154602	rs149788617	0.0053	0.0053	0.0052	0.0055	0.0109	0.0052	0.0052	0.0103	0.0101	0.0008	0.0032	0.0044	0.0001	0.0012	0.0054	0.0055	0.0050	0.0109	0.0032	0.0032	0.0032	0.0033	0.0120	0.0030	0.0029	0.0095	0.0086	0.0012	0	0.0016	0.0023	0	0.0015	0.0034	0.0049	0.0028	0.0120	0.396	0.10623	T	0.555	0.09555	T	0.038	0.21002	B	0.003	0.08700	B	0.726794	0.09889	N	0.878657	1	0.81001	D	0.53	0.13656	N	2.03	0.20959	T	0.1	0.05810	N	0.131	0.16028	-0.9859	0.33615	T	0.034	0.14683	T	10	0.0061908364	0.00139	T	.	.	.	0.073	0.21317	.	.	0.243972157842	0.24002	0.20475948709286385	0.20392	0.171325869672	0.19303	0.240267768502	0.02815	T	0.018994	0.15211	T	-0.556514	0.00266	T	-0.564209	0.15984	T	0.0147694696718444	0.00309	T	0.780422	0.41514	T	0.026782995	0.01780	0.029422328	0.01278	0.026782995	0.01780	0.029422328	0.01278	-1.811	0.02542	T	.	.	0.062	0.01387	B	.;.	.;.	2.754484	0.36112	20.2	0.96348052000919482	0.29506	0.73002	0.35716	D	AEFDBHCI	0.180948	0.30826	N	-0.40913207807163	0.25149	1.363026	-0.322086197029723	0.27385	1.519283	0.99999999595144	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.96	1.55	0.22356	3.714000	0.54618	7.239000	0.57895	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.126000	0.19410	0.5439:0.0:0.4561:0.0	4.463	0.11095	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	0.004707	0.000000	0.002786	0.000000	0.000000	0.000000	0.003311	0.019231	0.25	3906.03	36	chr19	740436	.	G	A	3906.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.51;DP=395;ExcessHet=1.383;FS=15.571;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.063;SOR=1.382	GT:AD:DP:GQ:PL	0/1:40,59:99:99:1707,0,951	3	0	3	0
chr19	1003349	1003349	C	T	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon2:c.C646T:p.R216W	.	422	1061	35	4	0	43	0.0198614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0011	0.00259585	0.0039	0.0008	0.0005	0.0003	0	0.0017	0.0147	0.0137	0.0013907	215	154602	rs186778870	0.0010	0.0011	0.0008	0.0013	0.0081	0.0010	0.0010	0.0076	0.0074	0.0002	0.0005	0.0019	5.219e-05	0	0.0048	0.0006	0.0014	0.0081	0.0009	0.0009	0.0007	0.0011	0.0091	0.0008	0.0007	0.0070	0.0062	0.0002	0	0.0010	0.0035	0	0	0	0.0009	0.0009	0.0091	0.061	0.37118	T	0.127	0.35082	T	0.979	0.59044	D	0.252	0.39069	B	0.339006	0.04176	U	1.561990	1	0.08975	N	1.59	0.40313	L	2.76	0.11515	T	-0.98	0.25986	N	0.184	0.19995	-0.9718	0.36819	T	0.019	0.07800	T	10	0.006773919	0.00154	T	.	.	.	0.070	0.20419	.	.	0.396044805602	0.39223	0.40497727324869415	0.40413	0.33433436957	0.35451	0.742625892162	0.73360	T	0.192655	0.54787	T	-0.593157	0.00160	T	-0.619959	0.11189	T	0.0161656329308806	0.00392	T	0.70483	0.31518	T	0.06804001	0.14790	0.049404286	0.07543	0.06804001	0.14789	0.049404286	0.07542	-8.27	0.62895	D	.	.	0.107	0.20078	B	.	.	2.310768	0.29582	18.17	0.99747818164571589	0.84002	0.14887	0.18636	N	AEFDBCI	0.171133	0.29808	N	-0.64841780993473	0.17507	0.9014388	-0.806597548780862	0.14337	0.7485406	8.135302757185E-4	0.07857	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.44	1.05	0.19280	-0.022000	0.12424	0.935000	0.22809	0.523000	0.23987	0.000000	0.06391	0.464000	0.25017	0.010000	0.09038	0.1943:0.6175:0.1882:0.0	7.225	0.25185	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	0.004611	0.000000	0.004087	0.000000	0.000000	0.008929	0.012422	0.003788	0.1667	1222.06	35	chr19	1003349	.	C	T	1222.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.52;DP=215;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.01;SOR=0.613	GT:AD:DP:GQ:PL	0/1:20,23:43:99:622,0,551	4	0	2	0
chr19	5455948	5455948	C	T	exonic	ZNRF4	.	nonsynonymous SNV	ZNRF4:NM_181710:exon1:c.C457T:p.R153C	.	433	1082	7	0	0	7	0.00322432	.	.	.	2383847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00961003748237	.	.	1.723e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771662701	5.523e-06	9.577e-06	2.749e-06	8.322e-06	0.0002	2.38e-06	1.72e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.499e-06	0	2.32e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.133	0.26409	T	0.209	0.26798	T	0.003	0.11197	B	0.002	0.06944	B	0.985923	0.08063	U	0.992853	1	0.08975	N	0	0.06538	N	3.52	0.04905	T	-1.28	0.32185	N	0.144	0.14480	-0.9214	0.45362	T	0.006	0.02018	T	10	0.047257245	0.04021	T	0.00961	0.25130	T	0.016	0.02506	0.605	0.73706	0.0297737177859	0.01360	0.7708474388891755	0.77033	0.327880304235	0.34911	0.290679395199	0.09021	T	0.001984	0.01394	T	-0.426613	0.01554	T	-0.669048	0.07669	T	0.0885854307122646	0.11048	T	0.485551	0.14815	T	0.048785236	0.08559	0.062438615	0.12215	0.048785236	0.08559	0.062438615	0.12215	-5.631	0.43075	T	.	.	0.136	0.29724	B	.	.	1.357234	0.17655	13.29	0.94592335339102152	0.25145	0.01837	0.05695	N	AEFDBI	0.070172	0.13920	N	-1.53996522664564	0.01594	0.06965621	-1.57984028576803	0.01778	0.08094705	0.0413599687104784	0.14480	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.65	-7.22	0.01335	-0.531000	0.06259	-1.202000	0.06038	-0.409000	0.05269	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1865:0.2961:0.4193:0.0981	3.817	0.08334	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	.	.	.	.	.	.	.	.	0.1667	3686.06	82	chr19	5455948	.	C	T	3686.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.33;DP=528;ExcessHet=0.4139;FS=0.972;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=2.02;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,78:136:99:.:.:2297,0,1374:.	4	0	2	0
chr19	5693607	5693607	T	C	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon16:c.A1895G:p.H632R,LONP1:NM_004793:exon16:c.A2483G:p.H828R,LONP1:NM_001276479:exon17:c.A2291G:p.H764R	CODAS syndrome, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0129082212686	.	.	8.273e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs759128465	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.07619	T	0.712	0.13713	T	0.001	0.07471	B	0.003	0.08700	B	0.278227	0.14995	N	0.665110	1	0.08975	N	0.26	0.09897	N	1.6	0.28604	T	-0.96	0.25551	N	0.131	0.14905	-1.0093	0.27136	T	0.037	0.15770	T	10	0.059069097	0.07044	T	0.012908	0.31889	T	0.046	0.12618	0.559	0.67821	0.253981072376	0.25009	0.5191698308143036	0.51839	0.399117254086	0.40948	0.324678421021	0.14130	T	0.169207	0.51650	T	-0.271844	0.11552	T	-0.628262	0.10546	T	0.0148508567363024	0.00314	T	0.734227	0.36599	T	0.27707416	0.50766	0.10011906	0.23927	0.27707416	0.50766	0.10011906	0.23926	-5.298	0.39923	T	0.094938388421462	0.06407	0.059	0.09530	B	.;.;.;.;.;.	.;.;.;.;.;.	0.499667	0.08688	5.460	0.81264885097623973	0.13600	0.77519	0.38124	D	AEFDBHCIJ	0.190091	0.31733	N	-0.769273331056462	0.14116	0.7005552	-0.685457524216697	0.17324	0.9206768	0.999999987702434	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	4.33	1.05	0.19280	1.537000	0.35689	-1.310000	0.05750	0.654000	0.53741	0.310000	0.25414	0.000000	0.08366	0.817000	0.38496	0.0:0.2953:0.0:0.7047	7.072	0.24362	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1896.06	34	chr19	5693607	.	T	C	1896.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.05;DP=314;ExcessHet=0.4139;FS=1.887;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=2.07;SOR=0.7	GT:AD:DP:GQ:PL	0/1:45,34:79:99:854,0,1165	4	0	2	0
chr19	7019288	7019288	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C488T:p.P163L	.	483	1003	32	4	0	40	0.0195503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00658946	0.0150	0.0012	0.0115	0.0065	0	0.0128	0.0114	0.0197	0.0019728	305	154602	rs377522880	0.0050	0.0045	0.0038	0.0059	0.0179	0.0048	0.0048	0.0170	0.0166	0.0006	0.0020	0.0244	0.0016	9.31e-05	0.0097	0.0025	0.0068	0.0179	0.0028	0.0029	0.0025	0.0031	0.0178	0.0025	0.0025	0.0146	0.0134	0.0003	0	0.0045	0.0260	0.0039	9.854e-05	0.0034	0.0020	0.0045	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0059	0.28186	T	0.081	0.31854	T	6	0.004792005	0.00101	T	.	.	.	.	.	.	.	.	.	0.31987110972752	0.31900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454655	0.12977	T	0.04363344	0.06835	0.07398557	0.16137	0.04363344	0.06834	0.07398557	0.16137	-3.597	0.17813	T	.	.	0.086	0.10739	B	.;.	.;.	0.840878	0.12126	8.677	0.513626325724442	0.04549	0.00220	0.01242	N	AEFBI	.	.	.	-0.808078894078884	0.13103	0.6432139	-1.05272047173043	0.08650	0.4263698	1.99783207891912E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0429863	0.02266	2.25	-4.51	0.03237	-0.349000	0.07779	-4.649000	0.02051	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2104:0.0:0.3435:0.4461	3.179	0.06185	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;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	.	.	.	.	.	.	.	.	0.1667	252.36	11	chr19	7019288	.	G	A	252.36	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.366;DP=45;ExcessHet=0.4139;FS=2.246;MLEAC=2;MLEAF=0.167;MQ=43.58;MQRankSum=0.14;QD=15.77;ReadPosRankSum=1.67;SOR=1.714	GT:AD:DP:GQ:PL	0/1:2,5:7:52:158,0,52	4	0	2	0
chr19	7032755	7032755	C	T	exonic	MBD3L5	.	nonsynonymous SNV	MBD3L5:NM_001136507:exon2:c.C488T:p.P163L	.	939	570	12	1	0	14	0.0121317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00362205767171	.	.	0.0018	0	0	0	0	0.0030	0	0.0012	6.5e-06	1	154602	rs775760035	0.0031	0.0022	0.0024	0.0037	0.0104	0.0029	0.0029	0.0096	0.0093	0.0003	0.0013	0.0111	0.0003	0	0.0096	0.0020	0.0035	0.0104	0.0023	0.0014	0.0017	0.0030	0.0157	0.0019	0.0017	0.0078	0.0057	0	0	0.0030	0.0225	0	0	0.0128	0.0018	0.0031	0.0157	0.079	0.33753	T	0.048	0.48594	D	0.008	0.14655	B	0.008	0.13708	B	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-2.02	0.46503	N	0.218	0.24385	-1.0373	0.18140	T	0.088	0.33968	T	9	0.004570663	0.00095	T	0.003622	0.08309	T	0.032	0.07718	0.342	0.33464	0.0551355673512	0.04727	0.39057892685247886	0.38972	.	.	0.436823695898	0.30144	T	0.039963	0.25369	T	-0.559425	0.00256	T	-0.568533	0.15585	T	0.00697805741738573	0.00079	T	0.454655	0.12977	T	0.050567735	0.09154	0.048343748	0.07162	0.050567735	0.09154	0.048343748	0.07161	-3.6	0.17857	T	.	.	0.076	0.06114	B	.	.	0.715101	0.10842	7.519	0.43210924728789046	0.03238	0.00115	0.00727	N	AEFI	0.020338	0.00793	N	-1.33596277550651	0.03273	0.1459117	-1.50080691978968	0.02339	0.1074006	9.90148809100885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.491000	0.06555	-2.587000	0.03577	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3034:0.4941:0.0:0.2025	3.650	0.07736	964	0.07719	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	0.011299	0.000000	0.000000	0.016667	0.000000	0.000000	0.046875	0.000000	0.2	279.46	4	chr19	7032755	.	C	T	279.46	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.66;DP=28;ExcessHet=0.5115;FS=4.26;MLEAC=2;MLEAF=0.2;MQ=31.32;MQRankSum=-0.262;QD=17.47;ReadPosRankSum=0.231;SOR=2.67	GT:AD:DP:GQ:PL	0/1:5,4:9:94:94,0,133	3	0	2	1
chr19	7462277	7462277	G	T	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001130955:exon11:c.G1852T:p.G618W,ARHGEF18:NM_001367824:exon12:c.G1540T:p.G514W,ARHGEF18:NM_015318:exon12:c.G1540T:p.G514W,ARHGEF18:NM_001367823:exon21:c.G2578T:p.G860W	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0486488243101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.994	0.82059	D	0.000040	0.55875	D	0.000000	1	0.81001	D	.	.	.	1.37	0.35219	T	-3.48	0.68412	D	0.769	0.77319	-0.6932	0.60759	T	0.217	0.57928	T	10	0.76555526	0.76675	D	0.048649	0.63465	D	0.386	0.70276	0.366	0.37361	0.303453137403	0.29957	0.27533685120835183	0.27446	1.09681576166	0.77608	0.404245793819	0.25659	T	.	.	.	0.0970391	0.63972	D	-0.0983865	0.63522	T	0.990625739097595	0.80850	D	0.730727	0.34650	T	.	.	.	.	.	.	.	.	-12.37	0.86606	D	.	.	0.253	0.48797	B	.;.	.;.	4.089263	0.60890	24.3	0.99651810565321652	0.77317	0.95672	0.65668	D	AEFDBHCI	0.782180	0.71354	D	0.634312531083474	0.75357	6.29161	0.590509520925853	0.74256	6.106511	0.999999999973064	0.74766	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	5.339000	0.65724	7.233000	0.57878	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	16.346	0.82966	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	0	0	.	.	.	.	.	.	.	.	0.08333	784.83	34	chr19	7462277	.	G	T	784.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.075;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.858;SOR=0.76	GT:AD:DP:GQ:PL	0/1:36,35:71:99:795,0,800	5	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	30.01	327	chr19	8888826	.	T	*	30.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.99;DP=1785;ExcessHet=11.5949;FS=9.468;MLEAC=5;MLEAF=0.417;MQ=57.66;MQRankSum=-5.836;QD=0.02;ReadPosRankSum=1.12;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,53:337:99:0|1:8888826_T_*:1523,0,9746:8888826	1	0	5	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	533.08	146	chr19	8908637	.	C	G	533.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=720;ExcessHet=0.4139;FS=11.146;MLEAC=2;MLEAF=0.167;MQ=58.28;MQRankSum=-8.662;QD=2.05;ReadPosRankSum=-0.389;SOR=1.55	GT:AD:DP:GQ:PL	0/1:121,11:132:98:98,0,5048	4	0	2	0
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	558.09	146	chr19	8908644	.	C	G	558.09	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.34;DP=750;ExcessHet=0.4139;FS=1.985;MLEAC=2;MLEAF=0.167;MQ=57.95;MQRankSum=-7.932;QD=2.15;ReadPosRankSum=1.41;SOR=0.936	GT:AD:DP:GQ:PL	0/1:121,13:135:99:141,0,4975	4	0	2	0
chr19	8947821	8947821	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C28949T:p.T9650I	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.000596836674538	.	0.000399361	0.0002	0	0.0002	0	0	8.994e-05	0	0.0012	0.000194	30	154602	rs545014054	0.0001	0.0001	8.441e-05	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	0	0.0003	0	0	0	0.0031	2.968e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.715e-05	0.0008	0.0006	0	0	0.0007	0	0	0	0.0034	5.88e-05	0	0.0017	0.002	0.72154	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.28	0.02487	T	-4.5	0.78135	D	0.049	0.02088	-1.0045	0.28607	T	0.017	0.06759	T	8	0.018210888	0.00394	T	5.97E-4	0.00274	T	0.041	0.10877	0.24	0.17218	0.0762999501168	0.06990	0.11891972679479476	0.11818	.	.	0.248697668314	0.03632	T	.	.	.	-0.586976	0.00175	T	-0.666367	0.07843	T	0.113970879381483	0.13830	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-6.384	0.49384	T	.	.	0.206	0.43186	B	.	.	0.365561	0.07381	4.004	0.29873056108307561	0.01606	0.03797	0.09124	N	AEFBI	0.022161	0.01074	N	-0.386801544564827	0.25938	1.411843	-0.624394547801181	0.18867	1.009798	1.50795423718389E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.61	1.51	0.22094	0.159000	0.16258	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.2776:0.7224:0.0	7.227	0.25195	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2634.83	107	chr19	8947821	.	G	A	2634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.905;DP=603;ExcessHet=0;FS=2.4;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.016;SOR=0.654	GT:AD:DP:GQ:PL	0/1:104,99:203:99:2645,0,2661	5	0	1	0
chr19	8948535	8948535	A	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T28235A:p.M9412K	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000923618153121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	4.084e-06	6.877e-06	0.0002	2.36e-06	1.7e-06	2.995e-05	2.038e-05	0	0	0	0	0	0.0002	8.994e-07	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	-4.75	0.80256	D	0.376	0.41754	-1.0332	0.19427	T	0.048	0.20315	T	8	0.14468214	0.27453	T	9.24E-4	0.00889	T	0.034	0.08419	0.334	0.32167	0.0920862733494	0.08535	0.1512579716042922	0.15047	.	.	0.292063891888	0.09222	T	.	.	.	-0.189895	0.22273	T	-0.510547	0.21259	T	0.221434105657901	0.21535	T	0.234777	0.03226	T	.	.	.	.	.	.	.	.	-5.843	0.44947	T	.	.	0.164	0.36254	B	.	.	0.199252	0.05841	2.284	0.75160214166267969	0.10968	0.00723	0.03043	N	AEFBI	0.020567	0.00825	N	-0.896912481719584	0.10914	0.5240286	-1.0538581637002	0.08627	0.4250824	9.49003242051039E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.14	-0.307	0.12143	-0.756000	0.04882	.	.	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.4665:0.5335:0.0:0.0	6.277	0.20195	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3110.83	210	chr19	8948535	.	A	T	3110.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.03;DP=1054;ExcessHet=0;FS=2.269;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.762;SOR=0.653	GT:AD:DP:GQ:PL	0/1:112,111:223:99:3121,0,3111	5	0	1	0
chr19	8964345	8964345	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C12425T:p.P4142L	.	430	1066	26	0	0	26	0.0120482	.	.	.	3220290	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0019	0.033147	0.0146	0.0015	0.0403	0.1183	0	0.0023	0.0111	0.0062	0.0134992	2087	154602	rs17000819	0.0068	0.0068	0.0069	0.0067	0.1408	0.0067	0.0066	0.1377	0.1364	0.0003	0.0331	0.0028	0.1408	0.0003	0.0073	0.0014	0.0087	0.0069	0.0074	0.0074	0.0071	0.0077	0.1192	0.0070	0.0069	0.1114	0.1083	0.0013	0	0.0146	0.0040	0.1192	0.0004	0	0.0023	0.0132	0.0064	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.32	0.35219	T	-2.41	0.52938	N	0.024	0.00445	-1.0787	0.07602	T	0.001	0.00255	T	8	0.0019057095	0.00026	T	.	.	.	0.049	0.13647	.	.	.	.	0.028977685498381863	0.02846	.	.	0.208943784237	0.00767	T	.	.	.	-0.687407	0.00043	T	-0.630368	0.10387	T	0.0268780047867509	0.01528	T	0.334967	0.07125	T	.	.	.	.	.	.	.	.	-5.323	0.40170	T	.	.	0.120	0.24733	B	.	.	0.636195	0.10045	6.797	0.81400915962711162	0.13667	0.05249	0.11084	N	AEFBI	0.018723	0.00590	N	-0.327044557698409	0.28124	1.548697	-0.566832119775669	0.20361	1.096597	9.65795220478155E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.58	0.446	0.15813	0.052000	0.14046	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3526:0.6474:0.0	5.571	0.16482	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.008621	0.021341	0.022727	0.1667	3188.06	94	chr19	8964345	.	G	A	3188.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.745;DP=591;ExcessHet=0.4139;FS=0.955;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.77;SOR=0.76	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1868,0,1822	4	0	2	0
chr19	8965330	8965330	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T11440C:p.S3814P	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00120480050086	0.0009	0.000399361	0.0012	0.0001	0.0005	0	0	0.0015	0.0011	0.0021	0.0011061	171	154602	rs145105175	0.0011	0.0011	0.0010	0.0011	0.0057	0.0010	0.0010	0.0042	0.0037	8.979e-05	0.0009	0.0013	2.526e-05	7.499e-05	0.0057	0.0010	0.0012	0.0028	0.0009	0.0009	0.0009	0.0009	0.0023	0.0008	0.0007	0.0013	0.0012	0.0001	0	0.0006	0.0020	0	0.0003	0	0.0015	0.0019	0.0023	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.2	0.30555	N	0.057	0.02861	-0.9537	0.40327	T	0.006	0.02055	T	8	0.007739842	0.00176	T	0.001205	0.01558	T	0.079	0.23065	.	.	0.0716867268079	0.06686	0.07300417843481892	0.07237	.	.	0.292891085148	0.09345	T	.	.	.	-0.593488	0.00160	T	-0.630519	0.10376	T	0.0151501590845091	0.00330	T	0.187481	0.01957	T	.	.	.	.	.	.	.	.	-4.511	0.31032	T	.	.	0.140	0.30739	B	.	.	1.173890	0.15638	12.00	0.42603622507811872	0.03152	0.02125	0.06275	N	AEFBI	0.043023	0.06751	N	-1.04693928057025	0.07648	0.3559739	-1.11636432307811	0.07387	0.3591289	1.03372819345948E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.9	0.865	0.18211	0.044000	0.13876	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.463000	0.28185	0.7885:0.0:0.2115:0.0	3.512	0.07271	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.000000	0.000000	0.000000	0.021341	0.003788	0.1667	2666.06	89	chr19	8965330	.	A	G	2666.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.253;DP=451;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.4;SOR=0.704	GT:AD:DP:GQ:PL	0/1:35,51:86:99:1501,0,1042	4	0	2	0
chr19	10338823	10338823	A	T	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.T202A:p.S68T,ICAM3:NM_002162:exon2:c.T202A:p.S68T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0111873395115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.56	0.09113	T	0.644	0.40509	P	0.484	0.47189	P	0.845324	0.09003	N	0.922101	1	0.08975	N	1.75	0.45442	L	2.42	0.15376	T	-1.35	0.33598	N	0.106	0.09066	-0.9869	0.33371	T	0.047	0.20195	T	10	0.13681394	0.26029	T	0.011187	0.28559	T	0.046	0.12618	0.398	0.42590	0.176091768786	0.17195	0.43619765433563257	0.43536	0.830373386728	0.67598	0.27871337533	0.07313	T	0.043011	0.26367	T	-0.368256	0.03683	T	-0.76675	0.02877	T	0.174607753753662	0.18888	T	0.530647	0.17608	T	0.4152121	0.61771	0.11714897	0.28280	0.4152121	0.61772	0.11714897	0.28280	-6.386	0.49400	T	.	.	0.112	0.26607	B	.;.	.;.	0.601850	0.09701	6.473	0.92899100959644543	0.22454	0.04405	0.09992	N	AEFBCI	0.052770	0.09450	N	-0.628759364781396	0.18083	0.9360525	-0.7858936548561	0.14840	0.7775478	0.999667674259279	0.41534	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.66	-1.14	0.09241	-0.020000	0.12466	0.153000	0.15315	0.669000	0.69127	0.000000	0.06391	0.000000	0.08366	0.104000	0.18471	0.4881:0.3446:0.1673:0.0	6.043	0.18968	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, 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	.	.	.	.	.	.	.	.	0.1667	2609.06	37	chr19	10338823	.	A	T	2609.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.969;DP=451;ExcessHet=0.4139;FS=0.468;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.656;SOR=0.727	GT:AD:DP:GQ:PL	0/1:84,59:143:99:1538,0,2248	4	0	2	0
chr19	11350957	11350957	C	G	exonic	CCDC159	.	nonsynonymous SNV	CCDC159:NM_001080503:exon5:c.C376G:p.R126G	.	393	1126	3	0	0	3	0.00133038	.	.	.	2213536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0378112998232	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0001	5.82e-05	9	154602	rs540037522	5.707e-05	5.746e-05	6.197e-05	5.204e-05	0.0009	4.668e-05	4.325e-05	0.0003	0.0002	0	8.333e-05	0	5.56e-05	0	0.0009	5.643e-05	0.0001	3.781e-05	5.255e-05	5.25e-05	2.571e-05	8.061e-05	0.0002	2.557e-05	1.83e-05	3.762e-05	2.575e-05	0	0	0	0	0.0002	0	0.0034	8.821e-05	0	0	0.005	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.65	0.52642	T	-2.26	0.50502	N	0.311	0.35088	-0.8897	0.48960	T	0.208	0.56785	T	9	0.12535357	0.23821	T	0.037811	0.57842	D	0.175	0.44197	.	.	0.40318662893	0.39936	0.1412183228681275	0.14044	0.481733051228	0.47150	0.354570448399	0.18592	T	.	.	.	-0.210082	0.19368	T	-0.334039	0.41019	T	0.111858493097889	0.13615	T	0.751225	0.37284	T	0.2457368	0.47535	0.2518081	0.50798	0.2457368	0.47534	0.2518081	0.50797	-4.55	0.31538	T	.	.	0.225	0.45702	B	.;.;.;.;.	.;.;.;.;.	2.438928	0.31384	18.73	0.98968582642486547	0.49481	0.29526	0.23845	N	AEFBI	0.335465	0.43390	N	-0.193337827270217	0.33412	1.895219	-0.277721751257906	0.28834	1.610748	0.999865595503967	0.44398	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.87	4.87	0.62877	2.855000	0.48032	.	.	0.544000	0.25403	0.094000	0.22667	0.004000	0.18990	0.115000	0.18958	0.0:1.0:0.0:0.0	13.574	0.61328	825	0.40060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004128	0.000000	0.008333	0.008982	0.000000	0.000000	0.000000	0.000000	0.08333	196.84	34	chr19	11350957	.	C	G	196.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.963;DP=131;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0;SOR=0.631	GT:AD:DP:GQ:PL	0/1:11,8:19:99:207,0,273	5	0	1	0
chr19	11830350	11830350	C	-	exonic	ZNF440	.	frameshift deletion	ZNF440:NM_152357:exon2:c.71delC:p.Q25Rfs*8	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7455.03	36	chr19	11830349	.	TC	T	7455.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.941;DP=554;ExcessHet=0.4139;FS=1.182;MLEAC=2;MLEAF=0.167;MQ=59.29;MQRankSum=-3.49;QD=19.12;ReadPosRankSum=-0.292;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,95:198:99:0|1:11830349_TC_T:3657,0,4018:11830349	4	0	2	0
chr19	11830353	11830353	A	G	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon2:c.A74G:p.Q25R	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.000466004755903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.722e-06	2.75e-06	8.961e-05	6.4e-07	4.3e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.988644	0.24387	N	3.585	0.93597	H	3.08	0.08460	T	-3.33	0.68999	D	0.472	0.50778	-1.0184	0.24236	T	0.113	0.40238	T	9	0.95037866	0.94373	D	4.66E-4	0.00116	T	0.176	0.44373	0.905	0.97985	0.54351673446	0.54005	0.30461171563045186	0.30374	0.289669501288	0.31379	0.304031908512	0.11005	T	0.087773	0.38014	T	-0.0228682	0.48445	T	-0.270625	0.47756	T	0.972949624061584	0.69898	D	0.648035	0.25918	T	0.56370175	0.70714	0.60875195	0.77247	0.56370175	0.70715	0.60875195	0.77247	-10.175	0.74953	D	.	.	0.614	0.75140	P	.;.;.	.;.;.	2.324712	0.29777	18.23	0.98371996315321097	0.40760	0.71566	0.35069	D	AEFBI	0.056496	0.10450	N	0.204371605825787	0.51409	3.322524	-0.125997059650085	0.34346	1.97457	1.31283105505015E-4	0.05486	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	1.74	1.74	0.23636	1.998000	0.40415	.	.	0.478000	0.22058	0.997000	0.40164	0.073000	0.22253	0.052000	0.15357	1.0:0.0:0.0:0.0	6.758	0.22711	934	0.15400	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	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	7511.06	36	chr19	11830353	.	A	G	7511.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.426;DP=545;ExcessHet=0.4139;FS=0.757;MLEAC=2;MLEAF=0.167;MQ=59.27;MQRankSum=-3.471;QD=19.11;ReadPosRankSum=-0.229;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,96:200:99:0|1:11830349_TC_T:3687,0,4050:11830349	4	0	2	0
chr19	12350857	12350857	C	G	exonic	ZNF442	.	nonsynonymous SNV	ZNF442:NM_001363774:exon3:c.G521C:p.C174S,ZNF442:NM_030824:exon6:c.G728C:p.C243S	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000822732096047	.	.	7.414e-05	0	0	0	0	4.495e-05	0.0011	0.0003	6.47e-05	10	154602	rs757755988	5.951e-05	5.951e-05	5.037e-05	6.876e-05	0.0019	4.883e-05	4.561e-05	0.0011	0.0008	2.987e-05	2.236e-05	0	2.52e-05	0	0.0019	4.407e-05	9.935e-05	0.0002	3.945e-05	3.941e-05	3.857e-05	4.037e-05	0.0004	1.716e-05	1.13e-05	7.299e-05	3.032e-05	4.83e-05	0	0	0	0	0	0.0032	1.47e-05	0	0.0004	0.367	0.11659	T	0.108	0.37589	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.32	0.00691	N	2.57	0.13552	T	3.57	0.00095	N	0.024	0.03841	-0.9304	0.44080	T	0.007	0.02518	T	9	0.014636844	0.00308	T	8.23E-4	0.00670	T	0.058	0.16647	0.699	0.83592	0.0762999501168	0.06990	0.0056496908278823674	0.00534	0.0714209987842	0.07995	0.238281339407	0.02638	T	0.003459	0.02869	T	-0.629171	0.00097	T	-0.845345	0.01021	T	0.0442284124638147	0.04463	T	0.0357298	0.00319	T	0.034992523	0.04035	0.08343174	0.19118	0.034992523	0.04034	0.08343174	0.19118	-0.129	0.00422	T	.	.	0.092	0.15070	B	.;.;.	.;.;.	-0.558204	0.01690	0.122	0.42410813545902049	0.03124	0.00011	0.00159	N	AEFDBCI	0.078044	0.15737	N	-2.4540855109982	0.00020	0.0008801544	-2.45067687297981	0.00030	0.001326573	0.105874724600331	0.16514	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.727631	0.95156	0	.	.	0.832	-1.66	0.07824	0.139000	0.15858	.	.	-1.992000	0.00454	0.004000	0.16614	0.000000	0.08366	0.671000	0.33280	0.3218:0.3586:0.3196:0.0	4.805	0.12684	923	0.18507	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	3079.83	35	chr19	12350857	.	C	G	3079.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.398;DP=368;ExcessHet=0;FS=1.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.746;SOR=0.744	GT:AD:DP:GQ:PL	0/1:80,109:189:99:3090,0,2229	5	0	1	0
chr19	12464013	12464013	C	T	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G1909A:p.V637I	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000967509020786	0.0009	0.00159744	0.0022	0.0003	0.0002	0	0.0005	0.0025	0.0025	0.0079	0.0019081	295	154602	rs148951852	0.0015	0.0016	0.0013	0.0018	0.0089	0.0015	0.0015	0.0083	0.0080	3.385e-05	0.0001	0.0002	0	0.0013	0.0048	0.0013	0.0015	0.0089	0.0013	0.0013	0.0011	0.0014	0.0078	0.0011	0.0011	0.0058	0.0051	9.723e-05	0	0.0001	0	0	0.0014	0	0.0019	0.0005	0.0078	0.493	0.07920	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.445	0.02820	N	3.07	0.08547	T	-0.27	0.11366	N	0.018	0.00252	-0.9765	0.35794	T	0.006	0.02206	T	9	0.0040544868	0.00079	T	9.68E-4	0.01003	T	0.013	0.01715	.	.	0.0846915920261	0.08053	0.0056723854926779	0.00537	0.273427622127	0.29844	0.326258182526	0.14368	T	0.023265	0.17791	T	-0.760131	0.00015	T	-0.858537	0.00859	T	0.000625639478516926	0.00006	T	0.0748925	0.00548	T	0.019713074	0.00507	0.067255996	0.13890	0.019713074	0.00507	0.067255996	0.13889	-0.116	0.00392	T	.	.	0.070	0.03407	B	.;.	.;.	-0.646390	0.01450	0.088	0.72995583462683189	0.10170	0.01503	0.04977	N	AEFDBCI	0.019548	0.00689	N	-2.09860675845974	0.00129	0.005526622	-2.13964118378213	0.00153	0.006710481	0.0055880345274098	0.10984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.57	-5.15	0.02648	-0.764000	0.04841	.	.	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1176:0.4568:0.0:0.4256	7.232	0.25224	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.015152	0.08333	973.83	55	chr19	12464013	.	C	T	973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.82;DP=355;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.8;MQRankSum=-0.974;QD=12.81;ReadPosRankSum=0.114;SOR=0.588	GT:AD:DP:GQ:PL	0/1:38,38:76:99:984,0,952	5	0	1	0
chr19	13209372	13209372	G	C	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon45:c.C6469G:p.R2157G,CACNA1A:NM_001127222:exon45:c.C6466G:p.R2156G	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	4	1517	1	0	0	1	0.000329489	.	.	.	797733	EEG_with_focal_epileptiform_discharges|not_provided|Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42	Human_Phenotype_Ontology:HP:0010840,Human_Phenotype_Ontology:HP:0011185,MedGen:C4021199|MedGen:C3661900|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.389	0.433139985062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs554393704	3.699e-05	3.283e-05	4.045e-05	3.33e-05	0.0002	2.836e-05	2.536e-05	8.7e-05	6.513e-05	3.863e-05	0	0	0	0	0	3.19e-05	7.887e-05	0.0002	2.629e-05	2.627e-05	3.855e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.014	0.53172	D	0.022	0.60337	D	.	.	.	.	.	.	0.000000	0.00162	N	7739.210000	0.601483	0.32542	D	2.395	0.69210	M	-1.48	0.97583	T	-5.01	0.82450	D	0.259	0.36148	-0.2711	0.75782	T	0.577	0.84764	D	10	0.5237774	0.62792	D	0.43314	0.94021	D	0.389	0.70521	0.367	0.37524	0.851979344464	0.85055	0.42956321060431346	0.42873	0.346501304651	0.36554	0.81663942337	0.84511	D	0.734001	0.92578	D	-0.161307	0.26560	T	-0.190048	0.55586	T	0.895759463310242	0.54736	D	0.883312	0.67118	D	0.64007294	0.74835	0.43784794	0.67190	0.64007294	0.74836	0.43784794	0.67191	-5.709	0.49408	T	0.21799840223473396	0.29348	0.276	0.53587	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.847524	0.23471	16.03	0.90092486141612993	0.19375	0.31115	0.24256	N	AEFDGBHCI	0.246327	0.36710	N	-0.498210821757816	0.22139	1.18006	-0.670901627207533	0.17690	0.9417514	0.999998096444533	0.74766	0.718356	0.82227	0	0.484254	0.07192	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.14	-1.35	0.08638	0.490000	0.22112	1.702000	0.28138	-0.186000	0.09761	0.032000	0.20554	0.999000	0.35428	0.103000	0.18424	0.0:0.0:0.2558:0.7442	10.834	0.45879	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	0.001034	0.005319	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.1667	627.06	38	chr19	13209372	.	G	C	627.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.916;DP=198;ExcessHet=0.4139;FS=1.969;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.222;SOR=0.582	GT:AD:DP:GQ:PL	0/1:22,19:41:99:448,0,548	4	0	2	0
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y,CACNA1A:NM_001127222:exon26:c.G4247A:p.C1416Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;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	.	.	.	.	.	.	.	.	0.3	108.56	41	chr19	13261453	.	C	T	108.56	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.346;DP=260;ExcessHet=1.383;FS=142.291;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.05;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,16:48:48:.:.:48,0,469:.	2	0	3	1
chr19	16977386	16977386	C	G	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon15:c.G1740C:p.E580D	Anterior segement dysgenesis 8, Autosomal recessive	442	1073	7	0	0	7	0.00325128	.	.	.	1662127	CPAMD8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0078	0.00738818	0.0026	0.0234	0.0017	0	0.0002	0.0009	0.0022	0.0002	0.0024515	379	154602	rs138079023	0.0012	0.0012	0.0012	0.0011	0.0214	0.0011	0.0011	0.0201	0.0195	0.0214	0.0019	0.0046	0	7.496e-05	0.0065	0.0005	0.0024	0.0003	0.0065	0.0065	0.0067	0.0062	0.0211	0.0061	0.0060	0.0199	0.0195	0.0211	0	0.0023	0.0063	0	0	0.0102	0.0005	0.0062	0.0002	0.0	0.91255	D	0.032	0.53426	D	.	.	.	.	.	.	0.715225	0.06281	U	1.208260	0.999996	0.58761	D	.	.	.	-0.22	0.66474	T	-2.42	0.53096	N	0.173	0.18512	-1.0657	0.10386	T	0.051	0.21650	T	9	0.006012529	0.00135	T	.	.	.	.	.	.	.	0.618865024872	0.61577	.	.	0.397374807184	0.40824	0.42363139987	0.28336	T	.	.	.	-0.452281	0.01095	T	-0.404861	0.32820	T	0.0586524737989908	0.06954	T	0.79652	0.44001	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.400520	0.18148	13.57	0.99211913250283845	0.55624	0.65121	0.32631	D	AEFGBI	0.231397	0.35463	N	-0.271333916666909	0.30261	1.685597	-0.369269081640496	0.25918	1.428362	9.8379370650637E-4	0.08091	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	2.78	1.68	0.23219	2.446000	0.44566	-0.144000	0.11487	0.547000	0.25779	1.000000	0.71638	0.000000	0.08366	0.085000	0.17524	0.0:0.6183:0.1736:0.2081	5.314	0.15154	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010595	0.010204	0.010870	0.026316	0.000000	0.000000	0.006135	0.000000	0.1667	2551.06	59	chr19	16977386	.	C	G	2551.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.355;DP=425;ExcessHet=0.4139;FS=1.685;MLEAC=2;MLEAF=0.167;MQ=59.07;MQRankSum=-2.718;QD=12.15;ReadPosRankSum=0.516;SOR=0.599	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1114,0,1384	4	0	2	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	645.65	42	chr19	17286690	.	GTT	*	645.65	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.284;DP=250;ExcessHet=2.3007;FS=1.471;MLEAC=3;MLEAF=0.25;MQ=59.9;MQRankSum=0;QD=4.3;ReadPosRankSum=0.656;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,24:45:99:.:.:800,0,795:.	3	0	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	739.81	42	chr19	17286692	.	T	*	739.81	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.798;DP=247;ExcessHet=0.1336;FS=3.403;MLEAC=6;MLEAF=0.5;MQ=59.92;MQRankSum=0;QD=5.73;ReadPosRankSum=1.57;SOR=0.382	GT:AD:DP:GQ:PL	1/0:0,24:35:99:1730,693,710	1	1	4	0
chr19	21807887	21807887	C	T	exonic	ZNF43	.	nonsynonymous SNV	ZNF43:NM_001256651:exon3:c.G1955A:p.R652Q,ZNF43:NM_001256654:exon3:c.G1955A:p.R652Q,ZNF43:NM_001256653:exon4:c.G2177A:p.R726Q,ZNF43:NM_003423:exon4:c.G2150A:p.R717Q,ZNF43:NM_001256650:exon6:c.G2132A:p.R711Q,ZNF43:NM_001256648:exon7:c.G2132A:p.R711Q,ZNF43:NM_001256649:exon7:c.G2132A:p.R711Q	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0012786648347	.	0.000199681	3.335e-05	0	0	0	0	6.045e-05	0	0	3.88e-05	6	154602	rs560664191	2.602e-05	3.147e-05	2.044e-05	3.165e-05	4.641e-05	1.934e-05	1.693e-05	1.747e-05	1.504e-05	0	0	0	0	0	0	2.519e-05	9.943e-05	4.641e-05	2.699e-05	3.994e-05	2.632e-05	2.77e-05	2.981e-05	8.31e-06	5.25e-06	4.95e-06	1.85e-06	2.495e-05	0	0	0	0	0	0	2.981e-05	0.0005	0	1.0	0.00964	T	1.0	0.02733	T	0.084	0.24799	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	-0.325	0.03546	N	3.19	0.35960	T	-0.34	0.12661	N	0.063	0.04307	-0.9945	0.31432	T	0.042	0.17994	T	9	0.031441808	0.01279	T	0.001279	0.01759	T	0.006	0.00375	0.376	0.38994	0.29385284311	0.29004	0.011838944557071615	0.01143	0.0254987253627	0.02608	0.237254887819	0.02548	T	0.021032	0.16449	T	-0.301356	0.08532	T	-0.670653	0.07567	T	0.0184259192675756	0.00559	T	0.0169983	0.00095	T	0.010705286	0.00009	0.020856379	0.00159	0.010705286	0.00009	0.020856379	0.00159	-2.637	0.06790	T	.	.	0.250	0.48428	B	.;.;.;.;.	.;.;.;.;.	0.038927	0.04558	1.243	0.098929165228744675	0.00112	0.00016	0.00195	N	AEFBCI	0.013902	0.00201	N	-1.27505651504773	0.03978	0.1787162	-1.32551322881208	0.04103	0.1928375	2.69662795448923E-4	0.06244	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	1.76	-0.439	0.11652	-0.688000	0.05251	.	.	-1.790000	0.00639	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.763:0.0:0.237	6.454	0.21120	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	.	.	.	.	.	.	.	.	0.1667	2632.06	34	chr19	21807887	.	C	T	2632.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=341;ExcessHet=0.4139;FS=3.411;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.968;SOR=0.476	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1036,0,773	4	0	2	0
chr19	22976237	22976237	G	A	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.C1100T:p.P367L	.	427	1068	27	0	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00232222707758	.	.	0.0035	0.0005	0.0011	0	0.0015	0.0043	0.0011	0.0063	0.0027278	71	26028	rs536474622	0.0001	0.0042	9.266e-05	0.0001	0.0004	0.0001	9.504e-05	0.0003	0.0002	5.992e-05	0.0002	0.0004	0	0.0002	0.0004	8.502e-05	0.0002	0.0004	0.0005	0.0041	0.0005	0.0005	0.0009	0.0004	0.0004	0.0006	0.0005	7.398e-05	0	0.0009	0.0006	0	0	0	0.0007	0.0010	0.0009	.	.	.	0.071	0.43531	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.945	0.52268	M	0.46	0.56281	T	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.009609699	0.00216	T	0.002322	0.04479	T	.	.	.	.	0.609319324463	0.60618	0.011339675702604374	0.01093	0.107596404496	0.12144	0.33285087347	0.15364	T	0.150814	0.49046	T	-0.532233	0.00373	T	-0.525616	0.19726	T	.	.	.	0.0656934	0.00478	T	0.024016216	0.01194	0.04775818	0.06948	0.024016216	0.01193	0.04775818	0.06947	-5.09	0.37802	T	.	.	0.323	0.54703	B	.	.	2.794550	0.36740	20.3	0.46188772883500911	0.03681	0.00546	0.02508	N	AEFBHCI	0.112277	0.22199	N	.	.	.	.	.	.	0.015298917360302	0.12697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	0.945	0.18667	1.734000	0.37790	.	.	-0.678000	0.04252	0.172000	0.23960	0.000000	0.08366	0.035000	0.13729	0.0:0.0:1.0:0.0	8.841	0.34303	988	0.01987	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	.	.	.	.	.	.	.	.	0.08333	476.83	36	chr19	22976237	.	G	A	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.73;MQRankSum=-3.374;QD=3.56;ReadPosRankSum=-2.085;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,20:134:99:0|1:22976237_G_A:487,0,4552:22976237	5	0	1	0
chr19	22976250	22976250	T	C	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.A1087G:p.T363A	.	427	1072	23	0	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00131360279662	.	.	0.0029	0.0003	0.0011	0	0.0012	0.0034	0.0011	0.0057	0.0008837	23	26028	rs576071481	1.452e-05	0.0024	1.237e-05	1.669e-05	0.0002	9.33e-06	7.92e-06	2.333e-05	1.458e-05	0	0	3.929e-05	0	9.473e-05	0.0002	7.264e-06	1.678e-05	5.931e-05	0.0002	0.0035	0.0001	0.0002	0.0009	0.0001	9.445e-05	0.0003	0.0002	2.451e-05	0	0.0002	0.0003	0	0	0	0.0002	0	0.0009	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	0.23182	L	1.73	0.26445	T	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	0.009743005	0.00219	T	0.001314	0.01834	T	.	.	.	.	0.33440975612	0.33058	0.009870223699162609	0.00949	0.0399763604797	0.04273	0.366010546684	0.20258	T	0.087927	0.38049	T	-0.63163	0.00093	T	-0.674942	0.07295	T	.	.	.	0.0711929	0.00519	T	0.0283954	0.02172	0.065467834	0.13273	0.0283954	0.02171	0.065467834	0.13273	-6.879	0.53144	T	.	.	0.117	0.23779	B	.	.	1.539942	0.19747	14.42	0.55309102541028787	0.05315	0.01667	0.05336	N	AEFBHCI	0.133353	0.25298	N	.	.	.	.	.	.	7.20643370714345E-4	0.07685	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	0.945	0.18667	3.188000	0.50658	.	.	-0.672000	0.04293	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.0:0.0:0.0:1.0	6.947	0.23704	988	0.01987	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	.	.	.	.	.	.	.	.	0.08333	348.83	36	chr19	22976250	.	T	C	348.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=351;ExcessHet=0;FS=0.964;MLEAC=1;MLEAF=0.083;MQ=59.48;MQRankSum=-2.269;QD=2.58;ReadPosRankSum=-3.809;SOR=0.775	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,17:135:99:0|1:22976237_G_A:359,0,4904:22976237	5	0	1	0
chr19	22976258	22976258	A	G	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.T1079C:p.V360A	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00099473038703	.	.	0.0019	0.0002	0.0005	0	0.0005	0.0022	0.0011	0.0041	0.0003074	8	26028	rs558140186	5.509e-06	0.0011	4.108e-06	6.926e-06	3.616e-06	2.37e-06	1.71e-06	8.5e-07	5.7e-07	0	0	0	0	7.601e-05	0	3.616e-06	0	0	4.785e-05	0.0026	4.008e-05	5.598e-05	7.606e-05	2.186e-05	1.576e-05	2.921e-05	1.912e-05	0	0	6.782e-05	0.0003	0	0	0	7.606e-05	0	0	.	.	.	0.143	0.33219	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.32	0.03561	N	2.36	0.16089	T	.	.	.	0.008	0.00068	.	.	.	.	.	.	.	0.007867187	0.00179	T	9.95E-4	0.01050	T	.	.	.	.	0.0138822411134	0.00435	0.007269660238008094	0.00692	0.0374973046264	0.03981	0.281963407993	0.07768	T	0.011009	0.09875	T	-0.750773	0.00017	T	-0.846082	0.01011	T	.	.	.	0.106489	0.00795	T	0.019670675	0.00502	0.059901856	0.11318	0.019670675	0.00502	0.059901856	0.11318	-5.671	0.43435	T	.	.	0.262	0.49702	B	.	.	-0.426685	0.02115	0.200	0.45190191869613971	0.03529	0.00038	0.00324	N	AEBHCI	0.055014	0.10052	N	.	.	.	.	.	.	2.19609719575419E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	-1.89	0.07271	-0.997000	0.03816	.	.	-2.913000	0.00159	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2799:0.7201:0.0:0.0	6.698	0.22400	988	0.01987	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	.	.	.	.	.	.	.	.	0.08333	171.83	36	chr19	22976258	.	A	G	171.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.59;DP=349;ExcessHet=0;FS=1.094;MLEAC=1;MLEAF=0.083;MQ=59.47;MQRankSum=-2.741;QD=1.28;ReadPosRankSum=-3.5;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,13:134:99:0|1:22976237_G_A:182,0,5042:22976237	5	0	1	0
chr19	23359702	23359702	G	-	exonic	ZNF91	.	stopgain	ZNF91:NM_001300951:exon3:c.3181delC:p.L1061*,ZNF91:NM_003430:exon4:c.3277delC:p.L1093*	.	408	1098	16	0	0	16	0.00723327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.000798722	0.0008	0.0002	0.0003	0	0	0.0009	0	0.0017	0.0006727	104	154602	rs376851241	0.0007	0.0007	0.0006	0.0008	0.0031	0.0006	0.0006	0.0020	0.0017	0.0002	0.0005	0.0003	0	3.744e-05	0.0031	0.0007	0.0008	0.0016	0.0008	0.0008	0.0009	0.0008	0.0014	0.0007	0.0007	0.0009	0.0008	7.22e-05	0.0197	0.0014	0.0003	0	9.429e-05	0	0.0011	0.0005	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002643	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	1686.79	50	chr19	23359701	.	AG	A	1686.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.156;DP=331;ExcessHet=0;FS=2.397;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.475;SOR=0.503	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1697,0,1610	5	0	1	0
chr19	24087311	24087311	C	G	exonic	ZNF254	.	nonsynonymous SNV	ZNF254:NM_001278665:exon1:c.C4G:p.P2A,ZNF254:NM_203282:exon1:c.C4G:p.P2A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0019713139561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.008	0.92824	D	0.893	0.49136	P	0.328	0.42011	B	.	.	.	.	1	0.08975	N	1.475	0.37068	L	5.63	0.06681	T	-3.92	0.73151	D	0.291	0.32921	-0.9821	0.34515	T	0.016	0.06473	T	8	0.18383685	0.33729	T	0.001971	0.03535	T	0.027	0.05988	.	.	0.163833314356	0.15978	0.04684604338762711	0.04627	0.00249987597865	0.00216	0.416550576687	0.27363	T	0.002883	0.02278	T	-0.169629	0.25290	T	-0.481437	0.24294	T	0.409370094537735	0.29294	T	0.451355	0.12777	T	0.0632271	0.13291	0.16373292	0.37966	0.0632271	0.13290	0.16373292	0.37965	-0.505	0.00586	T	.	.	0.066	0.03128	B	.;.	.;.	1.072807	0.14550	11.12	0.7371561832591732	0.10429	0.01378	0.04696	N	ALL	0.024429	0.01512	N	-0.725143181326785	0.15317	0.7708464	-0.955046768352261	0.10806	0.5466583	0.999999980546581	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	0.225	0.225	0.14598	0.299000	0.18892	.	.	0.299000	0.18918	0.058000	0.21700	0.000000	0.08366	0.055000	0.15596	.	.	.	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	5612.06	39	chr19	24087311	.	C	G	5612.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=603;ExcessHet=0.4139;FS=1.742;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.424;SOR=0.817	GT:AD:DP:GQ:PL	0/1:111,109:220:99:2903,0,2762	4	0	2	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.08333	177.88	175	chr19	32999679	.	G	A	177.88	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.502;DP=793;ExcessHet=0;FS=1.368;MLEAC=1;MLEAF=0.083;MQ=54.52;MQRankSum=-3.711;QD=1.05;ReadPosRankSum=1.86;SOR=0.656	GT:AD:DP:GQ:PL	0/1:141,28:169:99:188,0,3842	5	0	1	0
chr19	35059909	35059909	C	T	exonic	HPN	.	nonsynonymous SNV	HPN:NM_001375441:exon6:c.C326T:p.A109V,HPN:NM_001384133:exon6:c.C326T:p.A109V,HPN:NM_182983:exon6:c.C326T:p.A109V,HPN:NM_002151:exon7:c.C326T:p.A109V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0144143919393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.222e-06	7.524e-06	1.45e-06	3.029e-06	1.437e-05	5.9e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	1.437e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.4	0.34852	B	0.049	0.25116	B	0.002153	0.37138	N	0.209981	0.999998	0.18612	N	1.905	0.50856	L	0.21	0.59983	T	0.5	0.02945	N	0.129	0.12341	-0.9087	0.47013	T	0.069	0.28080	T	10	0.2383025	0.40948	T	0.014414	0.34508	T	0.150	0.39571	0.776	0.90157	0.676902349205	0.67416	0.5417251327410668	0.54097	0.681555556331	0.60051	0.643514275551	0.59064	T	0.129597	0.45798	T	-0.160273	0.26718	T	-0.467997	0.25732	T	0.252362817525864	0.22978	T	0.653235	0.26349	T	0.04526808	0.07382	0.08158168	0.18552	0.04526808	0.07382	0.08158168	0.18551	-3.965	0.23278	T	.	.	.	.	.	.;.	.;.	1.432922	0.18516	13.78	0.8002521609900477	0.13010	0.18644	0.20344	N	AEFBCI	0.739747	0.68420	D	-0.767458848712175	0.14164	0.7033382	-0.722390300130688	0.16403	0.8676033	0.0075187500863675	0.11484	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.17	1.38	0.21262	1.169000	0.31480	-0.010000	0.13073	-0.830000	0.02882	0.068000	0.22015	0.001000	0.17328	0.461000	0.28141	0.0:0.72:0.0:0.28	9.699	0.39341	900	0.24599	Hepsin, SRCR domain|Hepsin, SRCR domain|SRCR-like domain;Hepsin, SRCR domain|Hepsin, SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1362.83	36	chr19	35059909	.	C	T	1362.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.919;DP=278;ExcessHet=0;FS=5.652;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.127;SOR=1.363	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1373,0,1075	5	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2529.4	60	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	*	2529.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.99;DP=363;ExcessHet=0.7136;FS=2.937;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.484;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,26:57:99:1|0:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:2405,1216,1198:35511459	4	0	2	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	950.98	49	chr19	35511491	.	C	*	950.98	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.29;DP=331;ExcessHet=0.095;FS=2.688;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.252;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,31:57:99:1|1:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:1401,104,0:35511459	3	1	2	0
chr19	35511809	35511809	G	A	exonic	DMKN	.	nonsynonymous SNV	DMKN:NM_001126056:exon4:c.C689T:p.T230M,DMKN:NM_001126057:exon4:c.C689T:p.T230M,DMKN:NM_001126058:exon4:c.C689T:p.T230M,DMKN:NM_001190347:exon4:c.C689T:p.T230M,DMKN:NM_001190348:exon4:c.C689T:p.T230M,DMKN:NM_001190349:exon4:c.C689T:p.T230M,DMKN:NM_033317:exon4:c.C689T:p.T230M	.	423	1088	10	1	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0408501596684	0.0013	0.000399361	0.0008	0	0.0011	0.0001	0	0.0011	0.0024	0.0002	0.0006856	106	154602	rs143821677	0.0009	0.0009	0.0009	0.0010	0.0114	0.0009	0.0009	0.0092	0.0084	0.0010	0.0009	0.0064	0.0003	3.747e-05	0.0114	0.0008	0.0015	0.0006	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0005	0.0006	0.0006	9.628e-05	0	0.0003	0.0066	0.0004	0	0.0238	0.0008	0.0005	0.0006	0.0	0.91255	D	0.03	0.56192	D	1.0	0.90584	D	0.982	0.84481	D	0.021082	0.26903	N	0.181162	0.94786	0.30517	N	2.35	0.67516	M	0.78	0.49358	T	-3.13	0.74427	D	0.389	0.47672	-0.5665	0.66154	T	0.247	0.61647	T	10	0.013833553	0.00292	T	0.04085	0.59602	D	0.166	0.42578	.	.	0.537495771734	0.53400	0.3212080843794247	0.32033	0.414822555637	0.42151	0.481433689594	0.36254	T	0.130357	0.45920	T	-0.259357	0.12976	T	-0.2031	0.54353	T	0.0600013646226494	0.07169	T	0.80342	0.47186	T	0.11771791	0.27747	0.19075215	0.42495	0.11771791	0.27746	0.19075215	0.42494	-5.371	0.42073	T	.	.	0.223	0.46700	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.086000	0.41532	21.4	0.99851530562455748	0.93102	0.75055	0.36733	D	AEFDBI	0.270895	0.38686	N	0.319240517857951	0.57137	3.879958	0.195817958105549	0.49616	3.16278	0.916752447316411	0.26521	0.497415	0.19182	0	0.59043	0.45803	0	0.39291	0.06387	1	0.530356	0.10902	0	.	.	4.31	3.27	0.36580	1.249000	0.32441	4.660000	0.44233	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.112:0.0:0.888:0.0	7.919	0.29000	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	0.009063	0.000000	0.012228	0.023392	0.000000	0.025862	0.003049	0.003788	0.1667	2791.06	40	chr19	35511809	.	G	A	2791.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.794;DP=332;ExcessHet=0.4139;FS=2.679;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=1.32;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,60:93:99:1|0:35511808_C_A:1649,0,1206:35511808	4	0	2	0
chr19	35513073	35513073	C	A	exonic	DMKN	.	nonsynonymous SNV	DMKN:NM_001126056:exon1:c.G403T:p.V135L,DMKN:NM_001126057:exon1:c.G403T:p.V135L,DMKN:NM_001126058:exon1:c.G403T:p.V135L,DMKN:NM_001190347:exon1:c.G403T:p.V135L,DMKN:NM_001190348:exon1:c.G403T:p.V135L,DMKN:NM_001190349:exon1:c.G403T:p.V135L,DMKN:NM_033317:exon1:c.G403T:p.V135L	.	423	1088	10	1	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00279779739038	0.0012	0.000199681	0.0006	0	0.0004	0	0	0.0011	0.0022	6.06e-05	0.0006015	93	154602	rs78344601	0.0009	0.0009	0.0009	0.0009	0.0113	0.0008	0.0008	0.0091	0.0083	0.0007	0.0007	0.0065	0	3.769e-05	0.0113	0.0008	0.0014	0.0004	0.0006	0.0006	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0002	0	0.0003	0.0066	0	0	0.0238	0.0008	0.0005	0.0006	0.05	0.46910	D	0.279	0.21745	T	0.003	0.38464	B	0.002	0.36557	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.74	0.18083	T	-0.44	0.18670	N	0.037	0.01911	-1.0326	0.19618	T	0.022	0.09421	T	9	0.005305171	0.00116	T	0.002798	0.05840	T	0.028	0.06331	0.246	0.18139	0.0482279557977	0.04254	0.09819339726820685	0.09750	0.135340312128	0.15256	0.250292241573	0.03799	T	0.001503	0.00951	T	-0.515422	0.00468	T	-0.598649	0.12925	T	0.00639803055176525	0.00071	T	0.762524	0.40088	T	0.048276193	0.08389	0.056383055	0.10063	0.048276193	0.08389	0.056383055	0.10063	-4.102	0.28093	T	.	.	0.121	0.33778	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.802564	0.01101	0.050	0.80022372196091296	0.13009	0.01733	0.05477	N	AEFDBI	0.132796	0.25223	N	-1.38098534990577	0.02816	0.1249092	-1.50995618861323	0.02267	0.1040025	0.947761271341412	0.27768	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	3.14	-4.62	0.03129	-1.624000	0.02141	-3.403000	0.02813	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.4358:0.152:0.4122	5.617	0.16718	824	0.40336	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.010870	0.023392	0.000000	0.025862	0.003049	0.003788	0.1667	2094.06	81	chr19	35513073	.	C	A	2094.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=374;ExcessHet=0.4139;FS=1.246;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.94;SOR=0.839	GT:AD:DP:GQ:PL	0/1:52,35:87:99:997,0,1428	4	0	2	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	663.12	77	chr19	37887095	.	C	T	663.12	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.561;DP=401;ExcessHet=1.383;FS=244.01;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=1.13;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,15:83:99:0|1:37887095_C_T:202,0,2369:37887095	2	0	3	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	568.99	68	chr19	37887096	.	A	G	568.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.929;DP=389;ExcessHet=0.4139;FS=159.422;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.01;ReadPosRankSum=1.26;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,15:83:99:0|1:37887095_C_T:202,0,2369:37887095	1	0	2	3
chr19	38193759	38193759	A	G	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon18:c.A4819G:p.S1607G	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00460867682745	9.9e-05	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001294	20	154602	rs368637137	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	6.285e-05	0.0001	0	0	0	0.0007	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.164e-05	6.721e-05	0.0001	8.878e-05	7.219e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	0.446	0.09101	T	0.393	0.15355	T	0.0	0.02946	B	0.0	0.01387	B	0.003652	0.34662	N	0.238359	0.999457	0.21167	N	0.255	0.09829	N	1.54	0.30133	T	-0.89	0.24026	N	0.109	0.09490	-1.0513	0.14036	T	0.038	0.16376	T	10	0.031085193	0.01240	T	0.004609	0.11409	T	0.077	0.22490	.	.	0.0934897674506	0.08844	0.15025385662640006	0.14947	0.139067938041	0.15679	0.476527452469	0.35580	T	0.01212	0.10705	T	-0.516831	0.00459	T	-0.674192	0.07343	T	0.0174527469797103	0.00482	T	0.525647	0.17278	T	0.04953011	0.08809	0.032916024	0.02102	0.04953011	0.08809	0.032916024	0.02102	-2.931	0.09457	T	.	.	0.053	0.00269	B	.	.	0.787996	0.11583	8.175	0.6131801193180052	0.06679	0.17083	0.19681	N	AEFDBI	.	.	.	-0.740289987552836	0.14899	0.7461336	-0.659935151521523	0.17966	0.9576816	0.999999923728151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.01	3.98	0.45383	1.476000	0.35028	5.090000	0.47345	-0.060000	0.16637	0.043000	0.21118	1.000000	0.68203	0.001000	0.02609	0.9057:0.0:0.0943:0.0	8.127	0.30166	628	0.65206	Signal-induced proliferation-associated 1-like protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000535	0.000000	0.000000	0.003268	0.000000	0.000000	0.000000	0.000000	0.1667	550.06	16	chr19	38193759	.	A	G	550.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.329;DP=125;ExcessHet=0.4139;FS=1.061;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.125;SOR=0.536	GT:AD:DP:GQ:PL	0/1:12,11:23:99:251,0,320	4	0	2	0
chr19	39381050	39381050	G	A	exonic	SAMD4B	.	nonsynonymous SNV	SAMD4B:NM_001303614:exon11:c.G1909A:p.V637M,SAMD4B:NM_001384577:exon11:c.G1909A:p.V637M,SAMD4B:NM_001384592:exon11:c.G1909A:p.V637M,SAMD4B:NM_001384565:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384569:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384574:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384583:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384589:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384590:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384595:exon12:c.G1909A:p.V637M,SAMD4B:NM_001384566:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384570:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384571:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384573:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384575:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384576:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384580:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384581:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384584:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384586:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384587:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384588:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384591:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384593:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384594:exon13:c.G1909A:p.V637M,SAMD4B:NM_001384568:exon14:c.G1909A:p.V637M,SAMD4B:NM_001384578:exon14:c.G1909A:p.V637M,SAMD4B:NM_001384582:exon14:c.G1909A:p.V637M,SAMD4B:NM_001384585:exon14:c.G1909A:p.V637M,SAMD4B:NM_018028:exon14:c.G1909A:p.V637M	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0824074019219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.052e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.043	0.50514	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.04	0.26193	L	.	.	.	-1.73	0.41046	N	0.7	0.73555	-0.2717	0.75766	T	0.374	0.73272	T	9	0.5009675	0.61545	D	0.082407	0.73895	D	0.342	0.66392	0.13	0.03494	0.290620346082	0.28682	0.5598270749168788	0.55909	1.74582744126	0.90929	0.814671278	0.84209	D	0.112721	0.52221	T	0.46491	0.93134	D	0.430035	0.93049	D	0.911869645118713	0.56757	D	0.970603	0.89432	D	0.29694796	0.52629	0.34793273	0.60440	0.29694796	0.52629	0.34793273	0.60440	-5.319	0.40131	T	.	.	0.895	0.82415	P	.;.;.	.;.;.	5.199523	0.87222	29.2	0.99901133006874532	0.97275	0.98796	0.86965	D	AEFDBI	0.919288	0.88960	D	0.748928627210562	0.82833	7.861886	0.730471359961055	0.84693	8.363473	0.99999999998772	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.74	4.74	0.59717	9.602000	0.97623	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.259	0.73304	744	0.52588	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1179.83	40	chr19	39381050	.	G	A	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.832;DP=262;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.051;SOR=0.83	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1190,0,869	5	0	1	0
chr19	39886548	39886548	G	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon17:c.C7631T:p.A2544V	.	433	1018	71	0	0	71	0.0336972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00515845595298	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488096998	0.0035	0.0079	0.0032	0.0039	0.0116	0.0034	0.0034	0.0110	0.0107	0.0003	0.0011	0.0034	0	0.0012	0.0057	0.0032	0.0032	0.0116	0.0017	0.0049	0.0017	0.0017	0.0114	0.0016	0.0015	0.0089	0.0081	0.0003	0.0033	0.0011	0.0018	0	0.0013	0	0.0023	0.0014	0.0114	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9734	0.36474	T	0.134	0.44759	T	9	0.010130703	0.00227	T	0.005158	0.13125	T	.	.	.	.	0.101711395817	0.09552	.	.	.	.	0.418726503849	0.27662	T	0.029995	0.21364	T	-0.267825	0.11999	T	-0.622489	0.10992	T	0.138795583218467	0.16171	T	0.763424	0.38984	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.48938	B	.	.	0.425453	0.07959	4.671	0.9942817816041134	0.64130	0.02634	0.07228	N	AEFBI	0.091879	0.18605	N	-1.21281395397476	0.04812	0.2180241	-1.37284189553889	0.03544	0.16553	0.0100883603552678	0.11964	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.71	-7.43	0.01238	-2.249000	0.01270	.	.	0.345000	0.19837	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.1829:0.2137:0.6034	9.409	0.37643	707	0.57054	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	99.83	70	chr19	39886548	.	G	A	99.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.391;DP=372;ExcessHet=0;FS=2.89;MLEAC=1;MLEAF=0.083;MQ=32.17;MQRankSum=0.488;QD=1.45;ReadPosRankSum=0.454;SOR=0.145	GT:AD:DP:GQ:PL	0/1:60,9:69:99:110,0,2232	5	0	1	0
chr19	39902311	39902311	T	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon9:c.A4517G:p.H1506R	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.00523230134847	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450354748	8.314e-07	6.842e-07	1.649e-06	0	1.06e-06	0	0	.	.	0	0	0	0	0	0	1.06e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	0.037056	0.24448	N	0.413124	0.999743	0.20516	N	.	.	.	.	.	.	.	.	.	.	.	-0.5443	0.67001	T	0.451	0.78491	T	10	0.34752682	0.51685	T	0.00593	0.15460	T	.	.	.	.	0.402043589563	0.39814	.	.	.	.	0.600498318672	0.52974	T	0.025075	0.18822	T	-0.0441584	0.45330	T	-0.301207	0.44598	T	0.55669516052353	0.34730	D	0.69743	0.30707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32153	B	.	.	3.433101	0.47720	22.5	0.9592308261777267	0.28192	0.41978	0.26776	N	AEFI	0.586246	0.58436	D	0.0417734361192832	0.43765	2.663057	-0.100614187665997	0.35365	2.045217	8.09746487323884E-5	0.04552	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.66	2.66	0.30672	6.221000	0.72188	.	.	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.0:1.0	9.973	0.40936	754	0.51307	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	4209.06	93	chr19	39902311	.	T	C	4209.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.326;DP=493;ExcessHet=0.4139;FS=0.45;MLEAC=2;MLEAF=0.167;MQ=43.39;MQRankSum=3.94;QD=14.98;ReadPosRankSum=1.03;SOR=0.66	GT:AD:DP:GQ:PL	0/1:91,83:174:99:1871,0,2360	4	0	2	0
chr19	40625985	40625985	G	A	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon27:c.G3961A:p.A1321T,LTBP4:NM_001042544:exon30:c.G4162A:p.A1388T,LTBP4:NM_003573:exon30:c.G4051A:p.A1351T	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1385833	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.695	0.225420138384	7.7e-05	0.000399361	0.0003	0.0002	0.0001	0	0	6.985e-05	0	0.0017	0.0001811	28	154602	rs377003640	9.558e-05	9.713e-05	5.743e-05	0.0001	0.0011	8.244e-05	7.757e-05	0.0010	0.0009	9.025e-05	6.823e-05	0	0	0	0	2.795e-05	8.313e-05	0.0011	7.881e-05	7.874e-05	8.996e-05	6.715e-05	0.0008	4.494e-05	3.51e-05	0.0003	0.0002	7.223e-05	0	0	0	0.0002	0	0	5.882e-05	0	0.0008	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.004451	0.33730	U	0.000000	0.999997	0.58761	D	.	.	.	-3.04	0.92357	D	.	.	.	0.588	0.64393	0.691	0.93060	D	0.841	0.94680	D	9	0.23597464	0.40670	T	0.22542	0.87996	D	0.695	0.88960	.	.	0.703329360458	0.70075	0.6117829432683232	0.61110	1.08710828371	0.77320	0.828609228134	0.86350	D	0.20407	0.87993	T	-0.0902249	0.38040	T	0.0622435	0.74395	D	0.360484707151125	0.27428	T	0.966103	0.91204	D	0.10871984	0.25705	0.1883594	0.42122	0.10871984	0.25705	0.1883594	0.42121	-11.493	0.82293	D	.	.	0.422	0.65590	A	.;.;.;.	.;.;.;.	5.314676	0.89214	29.9	0.99924535216141486	0.98980	0.98726	0.86069	D	AEFBHCI	0.937889	0.93630	D	0.619120588373263	0.74384	6.123711	0.58890824175468	0.74143	6.087159	0.999999999999969	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	7.997000	0.87980	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0:0.0:1.0:0.0	16.051	0.80567	749	0.51929	TB domain|TB domain;TB domain|TB domain;.;TB domain|TB 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	.	.	.	.	.	.	.	.	0.08333	581.83	35	chr19	40625985	.	G	A	581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.123;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.31;SOR=0.793	GT:AD:DP:GQ:PL	0/1:25,24:49:99:592,0,661	5	0	1	0
chr19	40749650	40749650	C	T	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.G154A:p.V52I,C19orf54:NM_001353809:exon1:c.G154A:p.V52I,C19orf54:NM_198476:exon1:c.G154A:p.V52I	.	411	1109	1	1	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138887945274	.	0.000199681	0.0002	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs574368351	5.729e-05	5.746e-05	3.251e-05	8.274e-05	0.0009	4.686e-05	4.341e-05	0.0007	0.0007	0	0	0	0	0	0.0002	9.276e-07	0.0001	0.0009	4.601e-05	4.594e-05	3.858e-05	5.378e-05	0.0010	2.11e-05	1.527e-05	0.0004	0.0003	0	0	6.549e-05	0	0.0002	0	0	0	0	0.0010	0.368	0.11623	T	0.526	0.10245	T	0.0	0.02946	B	0.001	0.04355	B	0.574893	0.05501	U	1.519900	1	0.08975	N	0	0.06538	N	.	.	.	0.01	0.06868	N	0.083	0.05929	-1.0477	0.15045	T	0.034	0.14509	T	9	0.009570807	0.00216	T	0.001389	0.02037	T	0.010	0.01040	0.175	0.08135	0.0482279557977	0.04254	0.07417781484695436	0.07354	0.0562866214624	0.06214	.	.	.	0.007635	0.07033	T	-0.607769	0.00131	T	-0.723782	0.04615	T	0.129435330629349	0.15329	T	0.40486	0.10377	T	0.026546594	0.01725	0.029107414	0.01212	0.026546594	0.01725	0.029107414	0.01212	-4.413	0.29733	T	.	.	0.074	0.05103	B	.	.	-2.154005	0.00071	0.001	0.7657953055067982	0.11525	0.01623	0.05242	N	AEFDGBHCI	0.036984	0.05014	N	-1.81659526096597	0.00506	0.02176865	-1.92844928015746	0.00430	0.01900898	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.444512	0.06955	0	.	.	4.59	-9.19	0.00583	-4.167000	0.00320	.	.	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1937:0.1367:0.0962:0.5734	3.939	0.08817	488	0.76887	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	822.83	92	chr19	40749650	.	C	T	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.573;DP=288;ExcessHet=0;FS=1.117;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=-1.823;SOR=0.683	GT:AD:DP:GQ:PL	0/1:20,30:50:99:833,0,532	5	0	1	0
chr19	41120470	41120470	T	C	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon4:c.T458C:p.L153P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.814	0.085359229786	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs752594770	2.053e-06	2.052e-06	2.724e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	2.991e-05	0	0	0	0	0.0002	0	0	1.16e-05	6.58e-06	6.57e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000312	0.45977	U	0.088341	1	0.81001	D	3.9	0.96120	H	-0.96	0.75553	T	-6.32	0.90852	D	0.855	0.85132	0.517	0.90788	D	0.657	0.88061	D	10	0.985896	0.98869	D	0.085359	0.74517	D	0.814	0.94008	0.896	0.97596	0.933915187719	0.93323	0.9256230973078096	0.92539	1.37689337224	0.84690	0.714072942734	0.69184	T	0.135735	0.46771	T	0.285671	0.81796	D	0.273	0.86749	D	0.999009966850281	0.95858	D	0.815218	0.46991	T	0.98904306	0.99713	0.95826966	0.98878	0.98904306	0.99713	0.95826966	0.98878	-13.947	0.92883	D	.	.	0.746	0.74879	P	.	.	4.329653	0.66332	24.9	0.99900787521431156	0.97275	0.98783	0.86796	D	AEFDBI	0.945730	0.95437	D	0.783129906321707	0.85040	8.459003	0.649343368416576	0.78564	6.901239	0.998608017692533	0.37289	0.554377	0.28877	0	0.578056	0.33634	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.95	3.95	0.44952	7.709000	0.83610	4.595000	0.43974	0.508000	0.23123	0.980000	0.35271	0.936000	0.28664	0.015000	0.10482	0.0:0.0:0.0:1.0	12.322	0.54310	697	0.58201	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1598.83	33	chr19	41120470	.	T	C	1598.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.067;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.741;SOR=0.715	GT:AD:DP:GQ:PL	0/1:86,67:153:99:1609,0,2486	5	0	1	0
chr19	42313420	42313420	C	T	exonic	TMEM145	.	nonsynonymous SNV	TMEM145:NM_001366910:exon1:c.C44T:p.P15L,TMEM145:NM_173633:exon1:c.C44T:p.P15L	.	355	1134	32	1	0	34	0.0147698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0025	0.00399361	0.0343	0	0	0	.	0.0249	0	0.0434	0.001313	203	154602	rs185966365	0.0050	0.0048	0.0049	0.0051	0.0186	0.0049	0.0049	0.0149	0.0140	0.0011	0.0020	0.0046	0	0.0076	0.0186	0.0046	0.0049	0.0152	0.0041	0.0041	0.0038	0.0044	0.0149	0.0038	0.0037	0.0121	0.0111	0.0013	0	0.0023	0.0032	0	0.0069	0.0171	0.0054	0.0038	0.0149	0.279	0.15561	T	0.126	0.35710	T	0.983	0.60381	D	0.726	0.55126	P	0.259431	0.15345	U	0.503609	0.99268	0.41714	D	1.39	0.34934	L	1.06	0.40469	T	0.5	0.02945	N	0.268	0.33578	-1.1348	0.01566	T	0.054	0.22770	T	10	0.006735027	0.00153	T	.	.	.	0.148	0.39182	.	.	0.558188439259	0.55478	0.29007636121236113	0.28920	0.512096811149	0.49265	0.884096682072	0.94505	D	0.006043	0.05478	T	-0.446652	0.01182	T	-0.402037	0.33148	T	0.0519023033639907	0.05831	T	0.727127	0.34152	T	0.09535335	0.22439	0.0749732	0.16457	0.09535335	0.22438	0.0749732	0.16457	-4.193	0.26650	T	.	.	0.114	0.22825	B	.;.	.;.	2.105866	0.26793	17.24	0.98485797629163652	0.42037	0.22804	0.21868	N	ALL	0.099040	0.19944	N	-0.0501813097093484	0.39595	2.337449	-0.0263752501979248	0.38528	2.27117	0.999999999996277	0.74766	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.1	3.1	0.34780	0.830000	0.27115	0.743000	0.21176	0.444000	0.21144	0.005000	0.17040	0.996000	0.32793	0.951000	0.49849	0.0:1.0:0.0:0.0	9.887	0.40439	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022005	0.006667	0.010989	0.005682	0.000000	0.000000	0.056250	0.046296	0.08333	404.83	36	chr19	42313420	.	C	T	404.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.08;DP=169;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-0.301;SOR=0.735	GT:AD:DP:GQ:PL	0/1:11,14:25:99:415,0,247	5	0	1	0
chr19	42916188	42916188	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C364T:p.H122Y,PSG6:NM_002782:exon2:c.C364T:p.H122Y	.	12	1467	36	7	0	50	0.016756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	0.0012	0.00259585	0.0040	0.0002	0.0014	0	0.0002	0.0021	0.0044	0.0194	0.0034282	530	154602	rs139119415	0.0025	0.0025	0.0020	0.0031	0.0185	0.0025	0.0024	0.0178	0.0174	0.0003	0.0010	0.0033	5.044e-05	0.0001	0.0141	0.0016	0.0027	0.0185	0.0016	0.0017	0.0014	0.0019	0.0133	0.0015	0.0014	0.0107	0.0097	0.0001	0	0.0017	0.0009	0	0.0002	0.0171	0.0021	0.0010	0.0133	0.004	0.68238	D	0.047	0.72224	D	0.93	0.51791	P	0.758	0.59611	P	.	.	.	.	1	0.08975	N	2.32	0.66415	M	-0.15	0.65192	T	-1.86	0.45587	N	0.115	0.12770	-0.8301	0.53295	T	0.225	0.58881	T	9	0.006159097	0.00139	T	.	.	.	0.239	0.54358	.	.	0.176091768786	0.17195	0.06928119303869801	0.06866	.	.	.	.	.	0.072374	0.34437	T	-0.46887	0.00864	T	-0.452752	0.27393	T	0.0163900769818029	0.00407	T	0.626737	0.27137	T	0.087712385	0.20436	0.13352163	0.32015	0.087712385	0.20436	0.13352163	0.32014	-5.809	0.44653	T	.	.	0.087	0.18037	B	.;.;.;.	.;.;.;.	0.732079	0.11013	7.671	0.95392029452268079	0.26832	0.00242	0.01343	N	AEFGI	0.035754	0.04655	N	-0.81176743570302	0.13009	0.637949	-1.08289132577062	0.08037	0.3934445	0.00276824863812657	0.09691	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.24	-4.05	0.03730	-0.455000	0.06837	-14.841000	0.00384	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.281:0.2257:0.2665:0.2268	0.152	0.00088	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set 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	0.010440	0.000000	0.009511	0.008333	0.000000	0.017241	0.022581	0.003968	0.08333	4889.83	35	chr19	42916188	.	G	A	4889.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.666;DP=1237;ExcessHet=0;FS=1.76;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=0.943;QD=12.04;ReadPosRankSum=1.12;SOR=0.836	GT:AD:DP:GQ:PL	0/1:216,190:406:99:4900,0,5897	5	0	1	0
chr19	43667676	43667676	C	T	exonic	PLAUR	.	nonsynonymous SNV	PLAUR:NM_001005376:exon2:c.G71A:p.R24Q,PLAUR:NM_001005377:exon2:c.G71A:p.R24Q,PLAUR:NM_001301037:exon2:c.G71A:p.R24Q,PLAUR:NM_002659:exon2:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00270115180889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.18184	T	0.451	0.13792	T	0.295	0.32424	B	0.004	0.16862	B	0.568435	0.05466	N	1.291800	1	0.08975	N	0.785	0.19527	N	1.56	0.29602	T	-1.19	0.31375	N	0.278	0.35938	-1.0406	0.17132	T	0.022	0.09238	T	10	0.038278133	0.02235	T	0.002701	0.05550	T	0.022	0.04323	0.389	0.41115	0.0297737177859	0.01360	0.7693580601988653	0.76884	1.55192575573	0.87917	0.27343532443	0.06593	T	0.026918	0.39293	T	-0.286508	0.09989	T	-0.649325	0.09001	T	0.0628377453454346	0.07609	T	0.822518	0.48242	T	0.12674722	0.29678	0.09801573	0.23352	0.12674722	0.29677	0.09801573	0.23351	-3.858	0.25261	T	.	.	0.120	0.31048	B	.;.;.;.;.;.	.;.;.;.;.;.	1.005432	0.13839	10.39	0.8887878865850074	0.18329	0.02055	0.06137	N	AEFDGBHCI	0.060552	0.11514	N	-1.77028141117973	0.00622	0.02681515	-1.86799880671092	0.00565	0.02508034	0.999999999998208	0.74766	0.627647	0.40530	0	0.586065	0.33999	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	4.84	-9.68	0.00441	-1.264000	0.02956	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.395000	0.26670	0.2173:0.1912:0.214:0.3775	0.503	0.00544	895	0.25842	.;CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-like;.;Ly-6 antigen/uPA receptor-like;CD59 antigen, conserved site|Ly-6 antigen/uPA receptor-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	.	.	.	.	.	.	.	.	0.08333	2589.83	34	chr19	43667676	.	C	T	2589.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.76;DP=369;ExcessHet=0;FS=4.296;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=2.36;SOR=0.455	GT:AD:DP:GQ:PL	0/1:93,90:183:99:2600,0,2385	5	0	1	0
chr19	43996098	43996098	A	G	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A241G:p.K81E,ZNF155:NM_001260487:exon5:c.A241G:p.K81E,ZNF155:NM_003445:exon5:c.A241G:p.K81E,ZNF155:NM_198089:exon5:c.A241G:p.K81E,ZNF155:NM_001260488:exon6:c.A274G:p.K92E	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00222054249645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.911e-07	6.84e-07	0	1.392e-06	9.056e-07	0	0	.	.	0	0	0	0	0	0	9.056e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.301	0.41239	T	0.444	0.35956	B	0.206	0.37138	B	.	.	.	.	1	0.08975	N	2.24	0.63355	M	5.24	0.05249	T	-2.46	0.55339	N	0.115	0.15187	-0.9606	0.39068	T	0.012	0.04463	T	9	0.08165121	0.13390	T	0.002221	0.04206	T	0.028	0.06331	0.256	0.19689	0.225215365344	0.22153	0.019248532276261384	0.01878	0.18156926869	0.20410	0.250811040401	0.03854	T	0.012409	0.10910	T	-0.325815	0.06433	T	-0.705787	0.05515	T	0.230512768577786	0.21975	T	0.788921	0.44827	T	0.15322691	0.34743	0.13742457	0.32847	0.15322691	0.34743	0.13742457	0.32847	-3.255	0.13164	T	.	.	0.076	0.15430	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.059496	0.26183	17.03	0.98245886224382173	0.39530	0.06116	0.12093	N	AEFBI	0.047297	0.07948	N	-0.887167868815243	0.11147	0.5363711	-0.995032165882247	0.09896	0.4950747	0.00210114611079077	0.09158	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.23	1.15	0.19876	0.075000	0.14547	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.7007:0.2993:0.0:0.0	5.261	0.14888	620	0.66037	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2143.06	47	chr19	43996098	.	A	G	2143.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.191;DP=342;ExcessHet=0.4139;FS=9.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.801;SOR=1.342	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1382,0,1238	4	0	2	0
chr19	43996828	43996828	G	A	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.G971A:p.S324N,ZNF155:NM_001260487:exon5:c.G971A:p.S324N,ZNF155:NM_003445:exon5:c.G971A:p.S324N,ZNF155:NM_198089:exon5:c.G971A:p.S324N,ZNF155:NM_001260488:exon6:c.G1004A:p.S335N	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00095530537603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.21385	T	0.182	0.33000	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.18	0.29980	L	3.13	0.08014	T	-1.13	0.29114	N	0.043	0.02366	-0.9841	0.34045	T	0.022	0.09330	T	9	0.080718964	0.13132	T	9.55E-4	0.00957	T	0.060	0.17295	0.541	0.65304	0.199424873507	0.19547	0.008337011806155724	0.00797	0.0311498456224	0.03231	0.360647916794	0.19480	T	0.002333	0.01729	T	-0.400597	0.02295	T	-0.813206	0.01594	T	0.0441108331335351	0.04441	T	0.562144	0.19728	T	0.083901346	0.19395	0.10380833	0.24917	0.083901346	0.19395	0.10380833	0.24917	-6.559	0.50739	T	.	.	0.297	0.54441	B	.;.;.;.	.;.;.;.	0.806430	0.11772	8.346	0.89604950688252505	0.18941	0.12294	0.17180	N	AEFBI	0.094160	0.19042	N	-0.906324995565478	0.10692	0.5122414	-1.02167153193883	0.09309	0.4624058	0.00245421374617525	0.09445	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.59	-1.77	0.07551	0.180000	0.16672	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.975000	0.56047	0.113:0.3218:0.5652:0.0	7.049	0.24240	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	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5625.06	169	chr19	43996828	.	G	A	5625.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.045;DP=1081;ExcessHet=0.4139;FS=1.105;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.42;SOR=0.796	GT:AD:DP:GQ:PL	0/1:109,107:216:99:2950,0,2856	4	0	2	0
chr19	44132312	44132312	A	T	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon5:c.A1698T:p.R566S,ZNF225:NM_001321685:exon6:c.A1698T:p.R566S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0007	0.00579073	0.0041	0.0001	0.0007	0.0001	0.0003	0.0012	0.0022	0.0240	0.0035575	550	154602	rs183264537	0.0022	0.0022	0.0015	0.0029	0.0230	0.0022	0.0021	0.0221	0.0218	0.0001	0.0004	0.0017	5.04e-05	0.0005	0.0069	0.0009	0.0026	0.0230	0.0015	0.0015	0.0011	0.0019	0.0251	0.0013	0.0012	0.0215	0.0201	0.0001	0	0.0003	0.0023	0	0.0005	0.0102	0.0011	0.0014	0.0251	0.001	0.78490	D	0.0	0.92824	D	0.949	0.53761	P	0.719	0.54822	P	.	.	.	.	1	0.81001	D	1.515	0.38264	L	2.16	0.19166	T	-1.96	0.45404	N	0.127	0.12913	-1.0569	0.12543	T	0.079	0.31466	T	9	0.004302144	0.00087	T	.	.	.	0.054	0.15330	.	.	0.313210971179	0.30940	0.029882056873656238	0.02937	0.434351109688	0.43575	0.381959468126	0.22535	T	0.014165	0.12111	T	-0.568964	0.00225	T	-0.572468	0.15224	T	0.0614131835042637	0.07389	T	0.608739	0.23025	T	0.14984234	0.34141	0.20630753	0.44839	0.14984234	0.34141	0.20630753	0.44838	-7.151	0.55128	T	.	.	0.932	0.86453	P	.;.	.;.	2.171386	0.27671	17.54	0.99258111684314854	0.57121	0.48042	0.28118	N	AEFBCI	0.299817	0.40877	N	-0.352147202336826	0.27193	1.490012	-0.603015465912891	0.19415	1.041559	1.1580317453342E-4	0.05269	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.76	1.67	0.23149	-1.716000	0.01978	.	.	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.7499:0.0:0.2501:0.0	6.024	0.18872	625	0.65529	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	0.007049	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.022727	0.1667	3964.06	38	chr19	44132312	.	A	T	3964.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.09;DP=454;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.7;SOR=0.699	GT:AD:DP:GQ:PL	0/1:76,63:139:99:1754,0,2200	4	0	2	0
chr19	44432363	44432363	G	A	exonic	ZNF229	.	nonsynonymous SNV	ZNF229:NM_001278510:exon5:c.C97T:p.P33S,ZNF229:NM_014518:exon5:c.C97T:p.P33S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000908782220675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385232499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.582e-06	6.569e-06	0	1.348e-05	2.422e-05	0	0	.	.	2.422e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.729	0.09393	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.195	0.21710	-0.9418	0.42330	T	0.001	0.00438	T	9	0.038364857	0.02250	T	9.09E-4	0.00866	T	.	.	0.284	0.24121	0.183819452728	0.17975	0.06499936529302158	0.06438	.	.	0.264100849628	0.05389	T	.	.	.	-0.275524	0.11148	T	-0.633548	0.10148	T	0.0610830181413572	0.07338	T	0.0624937	0.00454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34970	B	.;.;.	.;.;.	0.657411	0.10261	6.994	0.5848076796295697	0.06003	0.02404	0.06808	N	AEFBI	0.038259	0.05388	N	-1.21217910712109	0.04822	0.2184604	-1.25666551857069	0.05033	0.2388628	2.18256161791154E-4	0.05997	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.61	-2.72	0.05616	-0.318000	0.08091	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.658000	0.32913	0.1103:0.4529:0.4367:0.0	7.671	0.27626	912	0.21483	Krueppel-associated box;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1050.83	33	chr19	44432363	.	G	A	1050.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.156;DP=277;ExcessHet=0;FS=0.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.113;SOR=0.605	GT:AD:DP:GQ:PL	0/1:60,45:105:99:1061,0,1559	5	0	1	0
chr19	45522772	45522772	G	A	exonic	VASP	.	nonsynonymous SNV	VASP:NM_003370:exon7:c.G775A:p.G259R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.300069100448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.76e-06	3.42e-06	1.374e-06	4.158e-06	2.484e-05	6.5e-07	4.4e-07	7.2e-07	2e-07	0	2.484e-05	0	0	0	0	2.706e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.59732	D	0.327	0.33167	B	0.021	0.19346	B	0.297598	0.14656	N	0.638845	0.568092	0.31201	N	2.495	0.72670	M	-1.77	0.83660	D	-4.85	0.81107	D	0.256	0.28965	-0.3636	0.73156	T	0.367	0.72735	T	10	0.2720894	0.44750	T	0.300069	0.90852	D	0.162	0.41843	0.27	0.21893	0.535909150963	0.53241	0.25004082423166646	0.24918	1.21004634629	0.80811	0.710793614388	0.68708	T	0.803962	0.95031	D	-0.00614825	0.50804	T	-0.246608	0.50151	T	0.973310828208923	0.70046	D	0.940706	0.77799	D	0.122224145	0.28726	0.17025378	0.39120	0.122224145	0.28726	0.17025378	0.39119	-9.17	0.68785	D	.	.	0.664	0.71476	P	.	.	3.147039	0.42582	21.6	0.97559609529935531	0.34615	0.29478	0.23832	N	AEFBCI	0.069878	0.13849	N	-0.474116585708597	0.22931	1.227875	-0.448326234289985	0.23596	1.287634	0.999997847367976	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	3.92	2.9	0.32809	3.704000	0.54546	3.707000	0.39544	-0.247000	0.07223	0.997000	0.40164	1.000000	0.68203	0.038000	0.14061	0.8797:0.0:0.1203:0.0	6.767	0.22761	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	843.83	33	chr19	45522772	.	G	A	843.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.249;DP=234;ExcessHet=0;FS=3.442;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.059;SOR=0.968	GT:AD:DP:GQ:PL	0/1:32,31:63:99:854,0,876	5	0	1	0
chr19	45772673	45772673	G	C	exonic	DMPK	.	nonsynonymous SNV	DMPK:NM_001288765:exon8:c.C1045G:p.L349V,DMPK:NM_001081563:exon9:c.C1342G:p.L448V,DMPK:NM_001081560:exon10:c.C1297G:p.L433V,DMPK:NM_001081562:exon10:c.C1297G:p.L433V,DMPK:NM_001288766:exon10:c.C1297G:p.L433V,DMPK:NM_004409:exon10:c.C1312G:p.L438V,DMPK:NM_001288764:exon11:c.C1390G:p.L464V	Myotonic dystrophy 1, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0256614183035	.	.	8.417e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs544056738	5.062e-06	4.788e-06	5.743e-06	4.371e-06	3.693e-06	2.11e-06	1.35e-06	8.6e-07	5.8e-07	0	0	0	0	0	0	3.693e-06	5.253e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.28520	T	0.259	0.92824	T	0.001	0.07471	B	0.002	0.06944	B	0.604031	0.10930	N	0.740904	1	0.08975	N	0.98	0.24916	L	-0.19	0.66834	T	-0.78	0.21644	N	0.098	0.08646	-1.0189	0.24074	T	0.141	0.46054	T	10	0.058338642	0.06844	T	0.025661	0.48617	D	0.094	0.27141	0.052	0.00113	0.534572409765	0.53106	0.19857638901607969	0.19774	0.350907931514	0.36936	0.318869203329	0.13250	T	0.271329	0.64365	T	-0.258174	0.13114	T	-0.573228	0.15155	T	0.0255482745164667	0.01346	T	0.757724	0.38135	T	0.04215341	0.06341	0.037261162	0.03343	0.04215341	0.06341	0.037261162	0.03342	-3.932	0.24057	T	.	.	0.064	0.07697	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.071873	0.14545	11.11	0.85302105366081082	0.15808	0.05200	0.11024	N	AEFDBHCI	0.064609	0.12555	N	-1.02247285634358	0.08139	0.3805575	-1.08567839247144	0.07982	0.3904845	0.999991315584831	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.31	-0.312	0.12125	0.884000	0.27851	2.113000	0.30672	0.676000	0.76740	0.017000	0.19353	0.150000	0.23170	0.252000	0.23314	0.132:0.213:0.437:0.218	1.507	0.02338	799	0.44747	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1741.06	33	chr19	45772673	.	G	C	1741.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.95;DP=272;ExcessHet=0.4139;FS=1.374;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.1;SOR=0.551	GT:AD:DP:GQ:PL	0/1:41,24:65:99:576,0,976	4	0	2	0
chr19	46230303	46230303	T	G	exonic	IGFL1	.	nonsynonymous SNV	IGFL1:NM_198541:exon3:c.T109G:p.C37G	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	.	0.0046	0.00239617	0.0054	0.0008	0.0054	0	0.0130	0.0072	0.0056	0.0004	0.0053492	827	154602	rs187146043	0.0063	0.0063	0.0065	0.0061	0.0068	0.0062	0.0062	0.0066	0.0066	0.0011	0.0053	0.0106	0	0.0131	0.0055	0.0068	0.0060	0.0004	0.0059	0.0059	0.0055	0.0063	0.0075	0.0056	0.0054	0.0069	0.0067	0.0014	0.0099	0.0075	0.0089	0	0.0137	0.0136	0.0074	0.0118	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.001585	0.38554	N	0.000000	0.99622	0.23082	N	2.425	0.70256	M	0.21	0.59983	T	-11.7	0.99521	D	0.825	0.82057	-0.8196	0.53959	T	0.239	0.60691	T	10	0.03723228	0.02065	T	.	.	.	0.305	0.62620	.	.	0.534191878353	0.53070	0.7802701728234529	0.77978	0.264189448403	0.28968	0.363673508167	0.19920	T	0.147273	0.48528	T	-0.228338	0.16869	T	-0.0959219	0.63711	T	0.104620483713118	0.12857	T	0.433257	0.11819	T	0.58172077	0.71702	0.445996	0.67729	0.58172077	0.71704	0.445996	0.67729	-0.636	0.00673	T	.	.	0.612	0.69362	P	.	.	3.179877	0.43155	21.7	0.95757085069908743	0.27739	0.61672	0.31553	D	AEFBI	0.111020	0.21995	N	-0.019034625594135	0.40994	2.444238	-0.182073642364267	0.32195	1.829285	0.372296116402908	0.19882	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.76	1.7	0.23359	1.028000	0.29734	2.071000	0.30443	-0.980000	0.01901	0.899000	0.31403	1.000000	0.68203	0.056000	0.15673	0.2656:0.0:0.0:0.7343	5.038	0.13787	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.020202	0.006793	0.002924	0.000000	0.008621	0.009146	0.000000	0.25	5689.03	39	chr19	46230303	.	T	G	5689.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.56;DP=540;ExcessHet=1.383;FS=2.458;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.074;SOR=0.902	GT:AD:DP:GQ:PL	0/1:70,77:147:99:2068,0,1808	3	0	3	0
chr19	46470933	46470933	C	T	exonic	PNMA8A	.	nonsynonymous SNV	PNMA8A:NM_001103149:exon2:c.G103A:p.G35R,PNMA8A:NM_018215:exon2:c.G103A:p.G35R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00765659230553	0.0002	.	0.0004	9.714e-05	0.0003	0	0	0.0005	0.0011	0.0002	0.0003234	50	154602	rs200401445	0.0003	0.0003	0.0003	0.0004	0.0014	0.0003	0.0003	0.0006	0.0004	5.652e-05	0.0003	0.0021	0	1.884e-05	0.0014	0.0003	0.0008	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	2.413e-05	0	0.0003	0.0020	0	0	0	0.0002	0	0.0002	0.008	0.63226	D	0.009	0.66756	D	0.996	0.68779	D	0.929	0.66367	D	0.021283	0.26863	N	0.182769	0.997727	0.22536	N	.	.	.	2.89	0.10196	T	-3.04	0.62863	D	0.391	0.44090	-1.1095	0.03113	T	0.058	0.24354	T	10	0.06037146	0.07404	T	0.007657	0.20325	T	0.092	0.26621	0.227	0.15257	0.553307244281	0.54988	0.3017009045338735	0.30083	0.561397256276	0.52646	0.474997758865	0.35369	T	0.019681	0.15634	T	-0.372647	0.03462	T	-0.456902	0.26938	T	0.0764954919006002	0.09532	T	0.410359	0.76145	T	0.1497453	0.34123	0.18831097	0.42114	0.1497453	0.34123	0.18831097	0.42113	-6.983	0.53983	T	.	.	0.275	0.53355	B	.;.;.	.;.;.	3.752977	0.53807	23.4	0.99869918519954581	0.94726	0.46239	0.27716	N	AEFDBCI	0.096787	0.19534	N	0.276426085016521	0.54956	3.66016	0.153786843546217	0.47344	2.965961	0.999964605770356	0.48965	0.766844	0.99359	0	0.627178	0.54094	0	0.851219	0.99655	0	0.651492	0.60203	0	.	.	3.94	1.69	0.23290	0.912000	0.28220	2.069000	0.30434	0.599000	0.40250	0.856000	0.30544	0.925000	0.28409	0.832000	0.39227	0.2015:0.6907:0.0:0.1078	5.143	0.14300	860	0.33753	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003099	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.08333	1396.83	84	chr19	46470933	.	C	T	1396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.989;DP=383;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-0.346;SOR=0.773	GT:AD:DP:GQ:PL	0/1:34,50:84:99:1407,0,797	5	0	1	0
chr19	46493986	46493986	G	C	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.C1480G:p.R494G	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171101678107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.17857	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.07	0.20387	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.06749013	0.09410	T	0.171102	0.84847	D	.	.	.	.	0.449283877778	0.44552	0.13604665218853548	0.13528	.	.	0.250925034285	0.03866	T	.	.	.	-0.351289	0.04646	T	-0.742379	0.03791	T	.	.	.	0.369563	0.08694	T	0.08700898	0.20245	0.10966447	0.26432	0.08700898	0.20245	0.10966447	0.26431	-3.724	0.19673	T	.	.	0.206	0.43158	B	.	.	1.416855	0.18331	13.68	0.92220851049580932	0.21594	0.01733	0.05477	N	AEFDBI	0.070376	0.13967	N	.	.	.	.	.	.	0.989160851410125	0.31742	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	1.86	0.725	0.17395	0.159000	0.16258	-0.921000	0.06919	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.3294:0.6706:0.0	5.998	0.18736	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	.	.	.	.	.	.	.	.	0.25	4079.03	39	chr19	46493986	.	G	C	4079.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.52;DP=507;ExcessHet=1.383;FS=1.673;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.054;SOR=0.792	GT:AD:DP:GQ:PL	0/1:71,60:131:99:1426,0,1642	3	0	3	0
chr19	46621654	46621654	C	A	exonic	PTGIR	.	nonsynonymous SNV	PTGIR:NM_000960:exon3:c.G787T:p.A263S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00944716931491	.	.	8.717e-06	0	0	0	0	1.596e-05	0	0	6.5e-06	1	154602	rs773838809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.373	0.28575	T	0.592	0.39119	P	0.241	0.38645	B	0.001813	0.37945	N	0.215520	0.997174	0.43684	D	0.74	0.18910	N	1.16	0.38073	T	-1.15	0.29525	N	0.391	0.43223	-1.0871	0.06030	T	0.077	0.30889	T	10	0.16507682	0.30865	T	0.009447	0.24763	T	0.048	0.13305	0.392	0.41606	0.560303992393	0.55691	0.49738050136645845	0.49659	0.290016544937	0.31410	0.462043404579	0.33591	T	0.166737	0.51308	T	-0.172448	0.24864	T	-0.485486	0.23865	T	0.443617118932861	0.30562	T	0.762324	0.38756	T	0.20458664	0.42573	0.18506832	0.41598	0.20458664	0.42573	0.18506832	0.41597	-7.316	0.56309	T	.	.	0.163	0.47730	B	.;.;.	.;.;.	3.884482	0.56480	23.7	0.99100162829069049	0.52446	0.82273	0.41526	D	AEFDBHCI	0.484176	0.52430	N	-0.0546686770648517	0.39395	2.322434	0.00629347706748604	0.40005	2.380785	0.999999991253468	0.74766	0.608966	0.35542	0	0.685571	0.66316	0	0.769059	0.98459	0	0.567892	0.33627	0	.	.	4.39	4.39	0.52211	2.795000	0.47553	5.787000	0.49843	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.641000	0.32449	0.0:1.0:0.0:0.0	14.479	0.67150	929	0.16858	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	.	.	.	.	.	.	.	.	0.08333	444.83	33	chr19	46621654	.	C	A	444.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.422;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.006;SOR=0.671	GT:AD:DP:GQ:PL	0/1:30,19:49:99:455,0,916	5	0	1	0
chr19	47155163	47155163	G	A	exonic	SAE1	.	nonsynonymous SNV	SAE1:NM_001145713:exon5:c.G577A:p.D193N,SAE1:NM_001145714:exon5:c.G577A:p.D193N,SAE1:NM_005500:exon5:c.G577A:p.D193N	.	429	1089	3	1	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0322604221546	0.0003	0.000199681	8.237e-05	0.0010	0	0	0	0	0	0	7.12e-05	11	154602	rs140118489	2.736e-05	2.736e-05	3.267e-05	2.2e-05	0.0005	2.063e-05	1.816e-05	0.0003	0.0003	0.0005	2.236e-05	0	5.038e-05	0	0	8.993e-06	0.0001	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.548e-05	0	0	0	0	0	0	0.0002	0.151	0.24564	T	0.482	0.31527	T	0.009	0.15093	B	0.007	0.12992	B	0.000299	0.46274	D	0.217639	0.991	0.43910	D	1.295	0.32453	L	0.96	0.72237	T	-0.76	0.24676	N	0.195	0.23506	-0.6835	0.61211	T	0.271	0.64297	T	10	0.07117236	0.10454	T	0.03226	0.54132	D	0.090	0.26093	.	.	0.749852952628	0.74759	0.301399318879127	0.30052	0.203931500419	0.22808	0.492137849331	0.37735	T	0.008223	0.11676	T	-0.381485	0.03049	T	-0.428269	0.30131	T	0.0596070633534275	0.07105	T	0.953405	0.82184	D	0.123652555	0.29031	0.11325168	0.27332	0.123652555	0.29031	0.11325168	0.27332	-8.954	0.68466	D	.	.	0.131	0.28464	B	.;.;.;.;.;.	.;.;.;.;.;.	4.032629	0.59644	24.1	0.9971834119376447	0.81843	0.95696	0.65767	D	AEFDBCIJ	0.846929	0.76379	D	0.160449662012385	0.49309	3.132646	0.333965517349074	0.57545	3.920817	0.999999999999997	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.368000	0.78824	11.712000	0.94670	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	0.0:0.0:1.0:0.0	18.440	0.90611	862	0.33134	THIF-type NAD/FAD binding fold;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding 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	0.08333	686.83	34	chr19	47155163	.	G	A	686.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.735;DP=258;ExcessHet=0;FS=0.869;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1.68;SOR=0.845	GT:AD:DP:GQ:PL	0/1:47,31:78:99:697,0,1102	5	0	1	0
chr19	49690426	49690428	ACA	-	exonic	ADM5	.	nonframeshift deletion	ADM5:NM_001101340:exon2:c.395_397del:p.H132_I133delinsL	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2853.79	33	chr19	49690425	.	CACA	C	2853.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.227;DP=327;ExcessHet=0;FS=1.336;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.38;ReadPosRankSum=0.058;SOR=0.811	GT:AD:DP:GQ:PL	0/1:67,73:140:99:2864,0,2585	5	0	1	0
chr19	49889981	49889981	C	T	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.G1282A:p.E428K,IL4I1:NM_152899:exon8:c.G1393A:p.E465K,IL4I1:NM_001258017:exon10:c.G1459A:p.E487K,IL4I1:NM_001258018:exon10:c.G1459A:p.E487K,IL4I1:NM_172374:exon10:c.G1459A:p.E487K	.	429	1091	2	0	0	2	0.000915751	.	.	.	2295794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0902633784849	.	.	0.0004	0	0.0007	0	0	0.0008	0	0	0.0002717	42	154602	rs541635369	0.0005	0.0005	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0005	6.213e-05	0.0001	0.0008	0	0.0001	0.0009	0.0005	0.0003	0	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	0	0.0006	0	0	0	0.0006	0.0009	0.0002	0.405	0.22746	T	0.36	0.16964	T	0.05	0.22331	B	0.005	0.11217	B	0.237424	0.03559	N	1.607040	1	0.08975	N	1.61	0.41143	L	-3.03	0.92307	D	-0.88	0.23808	N	0.073	0.04790	-0.5235	0.67785	T	0.518	0.81966	D	10	0.028167963	0.00952	T	0.090263	0.75484	D	0.194	0.47447	.	.	0.462461958149	0.45873	0.8822674465442181	0.88194	1.16445027033	0.79578	0.378076732159	0.21982	T	0.491899	0.81608	T	-0.337852	0.05539	T	-0.356635	0.38443	T	0.0147849254961072	0.00310	T	0.69993	0.30971	T	0.12821737	0.29981	0.060128633	0.11399	0.12821737	0.29981	0.060128633	0.11398	-4.403	0.29961	T	.	.	0.080	0.16099	B	.;.;.	.;.;.	0.975362	0.13528	10.05	0.96524863973306152	0.30129	0.64407	0.32397	D	AEFDGBHCI	0.225864	0.34989	N	-1.04854299251634	0.07617	0.3544078	-1.08349512610685	0.08025	0.3928071	0.999999999973639	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.683535	0.66460	0	.	.	5.26	-1.29	0.08805	-0.249000	0.08861	0.156000	0.15349	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1418:0.4734:0.1381:0.2467	1.693	0.02683	633	0.64743	Amine oxidase;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003067	0.000000	0.004098	0.000000	0.000000	0.000000	0.003145	0.003817	0.08333	1229.83	35	chr19	49889981	.	C	T	1229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.464;DP=285;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.261;SOR=0.801	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1240,0,1498	5	0	1	0
chr19	51629968	51629968	C	T	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon2:c.G286A:p.V96I,SIGLEC5:NM_001384709:exon2:c.G286A:p.V96I,SIGLEC5:NM_003830:exon2:c.G286A:p.V96I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0126827061652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.298	0.20486	T	0.041	0.21357	B	0.031	0.21939	B	0.995939	0.07933	N	1.002490	1	0.08975	N	0.785	0.19527	N	-0.13	0.64818	T	-0.72	0.20358	N	0.051	0.02272	-1.0253	0.21985	T	0.102	0.37669	T	10	0.06012854	0.07337	T	0.012683	0.31464	T	0.140	0.37593	0.401	0.43081	0.154104182512	0.14974	0.05917297832194051	0.05857	.	.	0.25449860096	0.04256	T	0.035911	0.23900	T	-0.298388	0.08812	T	-0.66639	0.07841	T	0.0679661692695241	0.08363	T	0.181182	0.01822	T	0.18696013	0.40129	0.06426871	0.12854	0.18696013	0.40128	0.06426871	0.12854	-3.473	0.16056	T	.	.	0.087	0.11269	B	.;.	.;.	-0.046369	0.03975	0.895	0.83429197041188208	0.14721	0.00730	0.03063	N	AEFGBI	0.019633	0.00699	N	-1.38365482489561	0.02791	0.1237452	-1.47545172046839	0.02547	0.1173305	0.903639048819785	0.26158	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.15	-4.67	0.03080	-0.441000	0.06951	.	.	-1.060000	0.01619	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.282:0.139:0.2665:0.3125	0.259	0.00200	982	0.03397	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	.	.	.	.	.	.	.	.	0.1667	30.06	15	chr19	51629968	.	C	T	30.06	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.383;DP=53;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=21;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.383;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,39	2	0	1	3
chr19	52384824	52384824	-	GGTC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1244_1245insGGTC:p.A416Vfs*4	.	460	995	45	1	21	68	0.0230731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.0057	0.0055	0.0061	0.0135	0.0084	0.0078	0.0072	3.84e-05	1	26028	rs752060609	4.129e-05	0.0002	3.922e-05	4.339e-05	0.0029	3.13e-05	2.787e-05	0.0016	0.0013	3.986e-05	0	0	0	0.0002	0.0029	2.828e-05	0	3.396e-05	0.0012	0.0055	0.0012	0.0011	0.0023	0.0010	0.0009	0.0011	0.0010	0.0007	0	0.0015	0	0.0014	0.0006	0	0.0014	0.0031	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	39.85	79	chr19	52384824	.	A	AGGTC	39.85	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.28;DP=345;ExcessHet=0;FS=8.365;MLEAC=1;MLEAF=0.167;MQ=59.98;MQRankSum=0;QD=0.68;ReadPosRankSum=-1.413;SOR=3.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,5:59:47:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:47,0,2252:52384817	2	0	1	3
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	.	.	.	.	.	.	.	.	0.08333	861.83	35	chr19	52415946	.	G	A	861.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.93;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.69;SOR=0.687	GT:AD:DP:GQ:PL	0/1:38,29:67:99:872,0,989	5	0	1	0
chr19	52800403	52800403	T	A	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.A1283T:p.H428L,ZNF28:NM_001369763:exon4:c.A1433T:p.H478L,ZNF28:NM_001369764:exon4:c.A1400T:p.H467L,ZNF28:NM_006969:exon4:c.A1442T:p.H481L,ZNF28:NM_001369765:exon5:c.A1334T:p.H445L	.	410	1106	6	0	0	6	0.00270514	.	.	.	2818722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.000550107029034	0.0034	0.00139776	0.0024	0.0003	0.0004	0.0001	0.0030	0.0038	0	0.0003	0.0024126	373	154602	rs150655137	0.0043	0.0043	0.0045	0.0042	0.0052	0.0042	0.0042	0.0050	0.0050	0.0007	0.0010	0.0010	0	0.0028	0.0003	0.0052	0.0055	0.0004	0.0034	0.0034	0.0034	0.0033	0.0056	0.0031	0.0031	0.0052	0.0050	0.0007	0.0285	0.0017	0.0020	0	0.0038	0	0.0056	0.0019	0.0002	0.611	0.05452	T	0.444	0.13177	T	0.293	0.32367	B	0.05	0.25278	B	.	.	.	.	1	0.08975	N	0.865	0.21413	L	2.62	0.12988	T	-3.3	0.76015	D	0.126	0.15888	-0.9577	0.39608	T	0.009	0.03448	T	9	0.012247592	0.00264	T	5.5E-4	0.00208	T	0.014	0.01968	.	.	0.137902524267	0.13322	0.036115584478645026	0.03558	0.0452910881258	0.04909	0.400193810463	0.25095	T	0.071937	0.34332	T	-0.642701	0.00080	T	-0.695018	0.06102	T	0.00970683407023128	0.00127	T	0.10009	0.00753	T	0.11347346	0.26799	0.07909334	0.17775	0.11347346	0.26799	0.07909334	0.17775	-7.013	0.54832	T	.	.	0.555	0.69632	A	.;.;.	.;.;.	-0.483955	0.01920	0.161	0.74596158043106819	0.10754	0.00958	0.03679	N	AEFBHCI	0.055037	0.10058	N	-1.33228747607796	0.03312	0.1477233	-1.38623624778448	0.03398	0.1584144	3.46726401621814E-4	0.06626	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.74	1.74	0.23636	-4.587000	0.00244	.	.	-1.384000	0.01157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2575:0.0:0.0:0.7425	5.226	0.14716	976	0.04745	.;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	1	0	0.001587	0.000000	0.002717	0.000000	0.050000	0.000000	0.003049	0.000000	0.08333	1942.83	123	chr19	52800403	.	T	A	1942.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.68;DP=633;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.65;MQRankSum=0.041;QD=14.08;ReadPosRankSum=-0.27;SOR=0.693	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1953,0,1764	5	0	1	0
chr19	53142167	53142167	A	C	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.T664G:p.S222A,ZNF347:NM_001172675:exon5:c.T664G:p.S222A,ZNF347:NM_032584:exon5:c.T661G:p.S221A	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00373069737982	0.0024	0.00159744	0.0022	0.0002	0.0006	0	0.0003	0.0033	0.0011	0.0018	0.0020051	310	154602	rs150054471	0.0021	0.0022	0.0021	0.0022	0.0114	0.0021	0.0021	0.0092	0.0084	0.0006	0.0011	0.0165	0	0.0002	0.0114	0.0020	0.0032	0.0020	0.0016	0.0016	0.0016	0.0016	0.0020	0.0014	0.0014	0.0018	0.0017	0.0004	0	0.0009	0.0147	0	0.0002	0.0136	0.0020	0.0038	0.0017	0.082	0.33254	T	0.334	0.18340	T	0.158	0.28271	B	0.066	0.27432	B	.	.	.	.	1	0.08975	N	0.635	0.15989	N	3.21	0.07236	T	-2.26	0.50502	N	0.093	0.11769	-0.9214	0.45362	T	0.011	0.04369	T	9	0.0068825185	0.00156	T	0.003731	0.08651	T	0.013	0.01715	.	.	0.231231049324	0.22751	0.0212500144251586	0.02078	0.012742868649	0.01221	0.240050345659	0.02795	T	0.054427	0.29721	T	-0.666017	0.00058	T	-0.734702	0.04118	T	0.00338177271763022	0.00036	T	0.00856581	0.00040	T	0.11399232	0.26916	0.09214802	0.21700	0.11399232	0.26916	0.09214802	0.21700	-4.684	0.33210	T	.	.	0.079	0.07650	B	.;.;.	.;.;.	1.087805	0.14711	11.26	0.92995168697219244	0.22582	0.04342	0.09906	N	AEFBI	0.024031	0.01424	N	-1.17339779680434	0.05405	0.2463305	-1.2191213321586	0.05603	0.26742	3.51835075321682E-4	0.06668	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.45	1.4	0.21393	-0.357000	0.07702	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.8474:0.0:0.1526:0.0	5.199	0.14576	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	0.013595	0.005051	0.010870	0.020468	0.000000	0.051724	0.009146	0.007576	0.08333	1529.83	42	chr19	53142167	.	A	C	1529.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.162;DP=304;ExcessHet=0;FS=0.725;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.822;SOR=0.787	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1540,0,1425	5	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.693_694insCCG:p.G232delinsPG,LILRB3:NM_006864:exon5:c.693_694insCCG:p.S232_L604delinsPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	353.99	43	chr19	54221344	.	C	CCGG	353.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.35;DP=278;ExcessHet=1.383;FS=58.304;MLEAC=3;MLEAF=0.25;MQ=32.77;MQRankSum=3.52;QD=3.03;ReadPosRankSum=-1.842;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,6:34:99:0|1:54221256_T_C:168,0,1158:54221256	3	0	3	0
chr19	54221348	54221348	-	ACTGAG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCTCAGT:p.Q231_A630delinsSVQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.689_690insCTCAGT:p.L230delinsLSV,LILRB3:NM_006864:exon5:c.689_690insCTCAGT:p.K230_L604delinsNSVPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.611e-05	0.0006	2.863e-05	2.352e-05	0.0004	1.911e-05	1.696e-05	0.0002	0.0002	0.0003	0.0004	0	8.523e-05	4.043e-05	0	6.539e-06	3.528e-05	2.565e-05	2.706e-05	0.0007	0	5.539e-05	7.634e-05	8.32e-06	5.26e-06	2.024e-05	1.061e-05	7.634e-05	0	0	0	0	0	0	1.488e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	143.66	42	chr19	54221348	.	C	CACTGAG	143.66	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.938;DP=272;ExcessHet=1.383;FS=41.196;MLEAC=2;MLEAF=0.167;MQ=33.25;MQRankSum=3.07;QD=1.32;ReadPosRankSum=-2.426;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:87:0|1:54221256_T_C:87,0,1122:54221256	4	0	2	0
chr19	54465172	54465172	C	T	exonic	CDC42EP5	.	nonsynonymous SNV	CDC42EP5:NM_145057:exon3:c.G376A:p.G126R	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0038	0.00199681	0.0218	0.0065	0.0034	0.0024	0.0145	0.0348	0	0.0127	0.0030983	479	154602	rs10017	0.0067	0.0063	0.0066	0.0068	0.0076	0.0066	0.0065	0.0074	0.0074	0.0013	0.0018	0.0017	0.0002	0.0038	0.0030	0.0076	0.0046	0.0033	0.0048	0.0048	0.0048	0.0048	0.0078	0.0045	0.0044	0.0073	0.0071	0.0011	0.0395	0.0018	0.0009	0.0004	0.0054	0	0.0078	0.0043	0.0027	0.171	0.22746	T	0.397	0.15157	T	0.178	0.28960	B	0.014	0.16862	B	0.450446	0.12514	N	0.537116	1	0.08975	N	0.895	0.22405	L	1.55	0.29866	T	-0.99	0.26200	N	0.109	0.09490	-1.0272	0.21363	T	0.031	0.13374	T	10	0.0034463108	0.00061	T	.	.	.	0.030	0.07022	0.092	0.01108	0.296679040009	0.29266	0.1285259735343302	0.12777	1.02830112022	0.75345	0.689349770546	0.65613	T	0.020879	0.16359	T	-0.607722	0.00131	T	-0.634051	0.10108	T	0.0040330792534865	0.00043	T	.	.	.	0.042727932	0.06534	0.05883738	0.10942	0.042727932	0.06533	0.05883738	0.10941	-3.033	0.10541	T	.	.	0.102	0.18164	B	.	.	1.745182	0.22204	15.52	0.95941256769208927	0.28244	0.15801	0.19088	N	ALL	0.070652	0.14034	N	-0.946644691586346	0.09768	0.4637701	-1.00009656266121	0.09784	0.4887702	0.9999999999677	0.74766	0.489673	0.17934	0	0.166054	0.03914	2	0.64067	0.45733	0	0.662433	0.64102	0	.	.	2.97	1.86	0.24489	0.603000	0.23848	.	.	0.592000	0.32167	0.001000	0.13787	0.026000	0.21063	0.006000	0.07323	0.0:0.8737:0.0:0.1263	8.383	0.31642	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003125	0.000000	0.000000	0.003067	0.000000	0.008772	0.003205	0.007634	0.08333	424.83	34	chr19	54465172	.	C	T	424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=173;ExcessHet=0;FS=1.377;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.18;SOR=1.058	GT:AD:DP:GQ:PL	0/1:16,17:33:99:435,0,348	5	0	1	0
chr19	54990193	54990193	G	A	splicing	NLRP2	NM_001174081:exon9:c.2537+1G>A;NM_001174082:exon8:c.2471+1G>A;NM_017852:exon9:c.2537+1G>A;NM_001348003:exon9:c.2528+1G>A;NM_001174083:exon10:c.2468+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.29e-05	2	154602	rs769940861	8.894e-06	9.577e-06	8.168e-06	9.626e-06	4.472e-05	4.96e-06	3.82e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	8.094e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.134303	0.30801	T	-0.254847	0.49337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.891457	0.56626	23.8	0.96109324527441065	0.28739	0.72182	0.35340	D	AEFDBI	.	.	.	0.63929780784114	0.75679	6.348652	0.333780111121564	0.57535	3.91968	0.00146828044827121	0.08559	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.092715	0.02821	0	0.21377	0.31099	2.55	2.55	0.29757	2.685000	0.46626	.	.	0.662000	0.56354	1.000000	0.71638	0.529000	0.25352	0.047000	0.14932	0.0:0.0:1.0:0.0	8.744	0.33738	940	0.13648	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1749.83	39	chr19	54990193	.	G	A	1749.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.51;DP=364;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.366;SOR=0.733	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1760,0,1772	5	0	1	0
chr19	55095588	55095588	G	C	exonic	PPP1R12C	.	nonsynonymous SNV	PPP1R12C:NM_001271618:exon10:c.C1240G:p.P414A,PPP1R12C:NM_017607:exon10:c.C1243G:p.P415A	.	.	.	.	.	.	.	.	.	.	.	2321411	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0913787416683	7.7e-05	.	9.192e-05	0	0	0	0	0.0002	0	0	5.17e-05	8	154602	rs201640646	3.668e-05	3.831e-05	3.636e-05	3.7e-05	0.0002	2.848e-05	2.579e-05	3.31e-05	2.966e-05	0	0	0	0	0	0.0002	4.295e-05	3.433e-05	2.534e-05	6.571e-05	6.567e-05	6.423e-05	6.727e-05	0.0002	3.517e-05	2.616e-05	6.805e-05	5.088e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.009	0.57480	D	0.003	0.76473	D	0.001	0.07471	B	0.005	0.11217	B	0.006769	0.31811	N	0.186893	0.528	0.31955	D	2.645	0.77386	M	-0.16	0.69158	T	-4.09	0.84315	D	0.145	0.14622	-0.5216	0.67855	T	0.235	0.60246	T	10	0.1487473	0.28163	T	0.091379	0.75695	D	0.099	0.28413	.	.	0.7921055478	0.79017	0.22126124883507375	0.22042	0.430679336334	0.43297	0.415974915028	0.27282	T	0.292821	0.66554	T	-0.22274	0.17621	T	-0.366695	0.37276	T	0.179702758789062	0.19216	T	0.659134	0.26896	T	0.11248153	0.26573	0.14191894	0.33780	0.11248153	0.26573	0.14191894	0.33779	-6.827	0.52760	T	.	.	0.061	0.01271	B	.;.	.;.	2.276813	0.29111	18.02	0.97407017934554652	0.33805	0.22813	0.21871	N	AEFDGBCI	0.049891	0.08665	N	-0.286369179440856	0.29674	1.647687	-0.256333824025413	0.29553	1.65668	0.991413477810812	0.32481	0.67177	0.52595	0	0.723109	0.82256	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	3.95	1.48	0.21900	1.224000	0.32142	2.021000	0.30209	0.665000	0.62972	0.738000	0.29006	0.999000	0.35428	0.935000	0.47363	0.0:0.4309:0.5691:0.0	9.401	0.37596	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	406.83	26	chr19	55095588	.	G	C	406.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.289;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.35;SOR=0.549	GT:AD:DP:GQ:PL	0/1:20,15:35:99:417,0,585	5	0	1	0
chr19	55578091	55578091	G	A	exonic	ZNF579	.	nonsynonymous SNV	ZNF579:NM_152600:exon2:c.C1549T:p.P517S	.	.	.	.	.	.	.	.	.	.	.	3417100	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.0768731517278	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866326686	3.529e-06	6.84e-06	4.188e-06	2.855e-06	3.674e-06	1.03e-06	7.5e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.674e-06	1.703e-05	0	3.944e-05	3.94e-05	3.855e-05	4.037e-05	0.0003	1.716e-05	1.13e-05	0.0001	8.287e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0	0.032	0.44694	D	0.161	0.31326	T	0.07	0.23866	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.35	0.05989	T	-0.94	0.25118	N	0.173	0.18512	-0.9819	0.34561	T	0.010	0.03856	T	9	0.10253191	0.18796	T	0.076873	0.72635	D	0.060	0.17295	0.369	0.37850	0.26169431596	0.25797	0.20145884555269813	0.20062	.	.	0.726791977882	0.71038	T	0.012185	0.10755	T	-0.251149	0.13957	T	-0.598535	0.12935	T	0.0397960839193641	0.03653	T	0.546045	0.18695	T	0.07521054	0.16930	0.08503554	0.19604	0.07521054	0.16929	0.08503554	0.19604	-4.813	0.34743	T	.	.	0.100	0.17103	B	.	.	2.927321	0.38882	20.8	0.99859892307926756	0.93820	0.59808	0.31018	D	AEFDBI	0.272617	0.38821	N	-0.418756370351471	0.24812	1.342383	-0.320007490470969	0.27453	1.523436	0.122021232150764	0.16904	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.17	3.17	0.35510	0.359000	0.19970	4.182000	0.42344	0.583000	0.30283	0.000000	0.06391	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7509:0.249	7.783	0.28241	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	.	.	.	.	.	.	.	.	0.08333	483.83	39	chr19	55578091	.	G	A	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.64;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.088;SOR=0.567	GT:AD:DP:GQ:PL	0/1:22,18:40:99:494,0,486	5	0	1	0
chr19	55642524	55642524	C	T	exonic	ZNF580	.	nonsynonymous SNV	ZNF580:NM_016202:exon1:c.C16T:p.P6S,ZNF580:NM_001163423:exon2:c.C16T:p.P6S,ZNF580:NM_207115:exon2:c.C16T:p.P6S	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0874656568737	0.0009	0.000599042	0.0010	0.0001	0.0011	0.0001	0	0.0015	0.0029	0	0.0009508	147	154602	rs138742547	0.0019	0.0018	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0016	0	0	8.737e-05	0.0014	0.0022	0.0021	6.939e-05	0.0014	0.0014	0.0016	0.0013	0.0028	0.0013	0.0012	0.0021	0.0019	0.0003	0	0.0028	0	0	9.411e-05	0.0102	0.0022	0.0024	0	1.0	0.00964	T	0.133	0.34716	T	0.347	0.33585	B	0.064	0.27215	B	.	.	.	.	1	0.81001	D	-0.205	0.04094	N	3.4	0.05642	T	-1.15	0.29525	N	0.139	0.13769	-0.8213	0.53852	T	0.007	0.02439	T	9	0.00846228	0.00192	T	0.087466	0.74942	D	0.082	0.23913	.	.	0.110392049598	0.10638	0.3881012974159783	0.38725	0.91802782315	0.71323	0.79685652256	0.81484	T	0.063626	0.32225	T	-0.49411	0.00617	T	-0.495762	0.22789	T	0.0601758486010034	0.07196	T	0.517648	0.21111	T	0.08634142	0.20066	0.12539308	0.30212	0.08634142	0.20066	0.12539308	0.30212	-4.505	0.30954	T	.	.	0.141	0.30868	B	.;.;.;.;.;.	.;.;.;.;.;.	3.346389	0.46131	22.2	0.94740649862818138	0.25431	0.79422	0.39352	D	AEFDBCI	0.255998	0.37501	N	-0.400266728188828	0.25459	1.382234	-0.212800369087366	0.31074	1.755339	0.999999950325102	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.71	0.69187	0	.	.	3.86	3.86	0.43689	5.516000	0.66771	4.107000	0.41897	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	11.482	0.49581	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	0.001518	0.000000	0.004076	0.002941	0.000000	0.008621	0.003067	0.000000	0.08333	941.83	42	chr19	55642524	.	C	T	941.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.437;DP=239;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=0.849;SOR=0.973	GT:AD:DP:GQ:PL	0/1:21,34:55:99:952,0,541	5	0	1	0
chr19	55807862	55807862	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon5:c.G1697A:p.R566H,NLRP11:NM_001385453:exon6:c.G1994A:p.R665H,NLRP11:NM_145007:exon6:c.G1994A:p.R665H	.	.	.	.	.	.	.	.	.	.	.	2192900	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0148484704185	.	.	3.318e-05	0	0	0	0	6.021e-05	0	0	3.23e-05	5	154602	rs561424521	2.403e-05	2.668e-05	2.187e-05	2.621e-05	0.0002	1.745e-05	1.544e-05	1.919e-05	1.666e-05	0	0	0	0	0	0.0002	2.706e-05	4.984e-05	1.164e-05	6.573e-06	6.568e-06	0	1.345e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.237	0.26631	T	0.573	0.38659	P	0.056	0.26147	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	0.54	0.54911	T	.	.	.	0.121	0.11626	-1.0689	0.09657	T	0.058	0.24204	T	9	0.07215029	0.10731	T	0.014848	0.35231	T	.	.	.	.	0.427596317008	0.42374	0.11380348452891756	0.11308	.	.	0.222847506404	0.01481	T	0.031442	0.22043	T	-0.325628	0.06448	T	-0.575067	0.14988	T	0.043493963778019	0.04328	T	0.60284	0.23413	T	0.050962437	0.09288	0.041732367	0.04809	0.050962437	0.09287	0.041732367	0.04809	-2.951	0.09746	T	.	.	0.096	0.15520	B	.;.	.;.	0.898560	0.12724	9.244	0.91538138741745645	0.20814	0.00050	0.00389	N	AEFBI	0.018296	0.00544	N	-1.19020352704221	0.05147	0.2339763	-1.3213425864825	0.04155	0.1953833	8.6156853878049E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.08	-1.7	0.07721	0.176000	0.16596	-0.458000	0.09056	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.538:0.0:0.462	6.171	0.19632	835	0.38313	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	629.83	36	chr19	55807862	.	C	T	629.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.88;DP=220;ExcessHet=0;FS=1.115;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.122;SOR=0.465	GT:AD:DP:GQ:PL	0/1:21,28:49:99:640,0,510	5	0	1	0
chr19	56824633	56824633	G	A	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001146184:exon3:c.C23T:p.S8F,PEG3:NM_001369717:exon3:c.C23T:p.S8F,PEG3:NM_001369718:exon4:c.C23T:p.S8F,PEG3:NM_001369719:exon4:c.C23T:p.S8F,PEG3:NM_006210:exon4:c.C23T:p.S8F	.	427	1093	2	0	0	2	0.000914077	.	.	.	2374530	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0113451974965	7.7e-05	.	0.0001	0.0001	0.0003	0	0	0.0002	0	0	0.0001035	16	154602	rs201826016	8.747e-05	9.098e-05	7.107e-05	0.0001	0.0005	7.472e-05	7.017e-05	0.0001	9.297e-05	6.035e-05	0.0002	0	0	0	0.0005	9.236e-05	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.718e-05	0.0002	0.0001	0	0	0.0002	0	0	0	0	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.407	0.34981	B	0.088	0.29688	B	0.033311	0.24914	N	0.201748	.	.	.	0.55	0.14455	N	4.22	0.02640	T	-1.03	0.27052	N	0.37	0.41162	-0.9404	0.42552	T	0.005	0.01615	T	8	0.04451084	0.03416	T	0.011345	0.28865	T	0.019	0.03383	.	.	0.386395597597	0.38251	.	.	0.118995721495	0.13405	0.362435609102	0.19740	T	0.081093	0.36517	T	-0.47017	0.00848	T	-0.611422	0.11870	T	0.0473071542549839	0.05019	T	0.593841	0.24364	T	0.16912626	0.37411	0.0945295	0.22378	0.16912626	0.37410	0.0945295	0.22377	-4.88	0.35509	T	.	.	0.136	0.30608	B	.;.;.;.	.;.;.;.	2.383667	0.30602	18.49	0.99425251050884589	0.63984	0.05637	0.11548	N	AEFBCI	0.066113	0.12931	N	-0.877184247481233	0.11387	0.5492273	-0.900277179167164	0.12088	0.6197448	0.00440755709220544	0.10539	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.66	-0.132	0.12831	0.486000	0.22048	.	.	-0.176000	0.10722	0.000000	0.06391	0.937000	0.28687	0.925000	0.46118	0.184:0.1578:0.4958:0.1625	1.940	0.03142	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	1	0	0	0	0.001554	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	377.83	34	chr19	56824633	.	G	A	377.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=1.14;SOR=0.869	GT:AD:DP:GQ:PL	0/1:25,13:38:99:388,0,738	5	0	1	0
chr19	57138584	57138584	G	T	exonic	ZIM3	.	nonsynonymous SNV	ZIM3:NM_052882:exon3:c.C30A:p.F10L	.	428	1093	1	0	0	1	0.000457247	.	.	.	3625105	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.0026116271405	.	.	7.421e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs763683082	2.326e-05	2.326e-05	1.77e-05	2.888e-05	0.0004	1.674e-05	1.477e-05	0.0003	0.0002	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0.0004	6.573e-06	1.314e-05	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.06	0.37326	T	0.004	0.74150	D	0.183	0.29179	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	2.25	0.63811	M	3.22	0.07024	T	-5.19	0.83625	D	0.323	0.36359	-1.0460	0.15534	T	0.024	0.10374	T	9	0.35850558	0.52541	T	0.002612	0.05292	T	0.195	0.47612	0.851	0.95260	0.115124310173	0.11017	0.40125237367878286	0.40040	0.313891519587	0.33679	0.415452092886	0.27210	T	0.08073	0.36432	T	-0.432232	0.01437	T	-0.536681	0.18623	T	0.204518155518604	0.20663	T	0.710329	0.32115	T	0.27668282	0.50729	0.34557405	0.60238	0.27668282	0.50729	0.34557405	0.60237	-6.592	0.50992	T	.	.	0.977	0.90519	P	.	.	1.649510	0.21048	15.03	0.9469978013560163	0.25350	0.05716	0.11639	N	AEFDBI	0.035645	0.04624	N	-1.2274328614488	0.04605	0.208218	-1.40331129651698	0.03218	0.1496943	0.00344427335121432	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.87	-5.74	0.02197	-1.094000	0.03470	.	.	-0.563000	0.04815	0.000000	0.06391	0.000000	0.08366	0.195000	0.21750	0.6033:0.1372:0.2595:0.0	6.471	0.21205	964	0.07719	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	583.83	43	chr19	57138584	.	G	T	583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.108;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=-0.341;SOR=0.73	GT:AD:DP:GQ:PL	0/1:54,30:84:99:594,0,1278	5	0	1	0
chr19	58416940	58416940	C	T	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.C287T:p.P96L,ZNF584:NM_173548:exon4:c.C422T:p.P141L	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00759288629348	0.0007	0.000599042	0.0006	0	0.0003	0	0.0005	0.0007	0.0011	0.0015	0.0005757	89	154602	rs148875810	0.0010	0.0010	0.0010	0.0010	0.0016	0.0009	0.0009	0.0014	0.0013	5.976e-05	0.0004	3.838e-05	0	0.0007	0.0009	0.0011	0.0004	0.0016	0.0006	0.0006	0.0007	0.0006	0.0015	0.0005	0.0005	0.0009	0.0008	9.62e-05	0	0.0007	0	0	0.0003	0	0.0011	0.0005	0.0015	0.711	0.04032	T	0.648	0.13953	T	0.421	0.35387	B	0.038	0.23361	B	.	.	.	.	1	0.08975	N	0.6	0.15550	N	2.53	0.14038	T	-1.32	0.32991	N	0.114	0.10198	-0.9691	0.37386	T	0.015	0.05994	T	9	0.0095312	0.00215	T	0.007593	0.20139	T	0.016	0.02506	.	.	0.256793551483	0.25290	0.17917508088348236	0.17836	0.311921731461	0.33496	0.224620044231	0.01594	T	0.016001	0.13313	T	-0.600775	0.00144	T	-0.671126	0.07537	T	0.0130709498835573	0.00229	T	0.377062	0.10126	T	0.018711928	0.00393	0.033423766	0.02234	0.018711928	0.00393	0.033423766	0.02234	-2.913	0.09274	T	.	.	0.067	0.03773	B	.;.	.;.	0.182798	0.05701	2.147	0.44301387942377513	0.03396	0.11999	0.16996	N	AEFBI	0.065209	0.12706	N	-1.00556566420363	0.08487	0.3981531	-1.09208963057301	0.07855	0.3837987	0.044461707650197	0.14613	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.22	-0.422	0.11714	-1.007000	0.03777	-3.577000	0.02683	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.330000	0.25202	0.427:0.3871:0.186:0.0	5.628	0.16776	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	968.83	98	chr19	58416940	.	C	T	968.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.706;DP=491;ExcessHet=0;FS=6.432;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.337;SOR=0.32	GT:AD:DP:GQ:PL	0/1:65,40:105:99:979,0,1916	5	0	1	0
chr20	2432517	2432517	G	C	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon12:c.G1861C:p.G621R,TGM6:NM_198994:exon13:c.G1995C:p.R665S	Spinocerebellar ataxia 35, Autosomal dominant	4	1470	45	3	0	51	0.0170512	.	.	.	349763	not_specified|not_provided|Spinocerebellar_ataxia_type_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0016	0.00139776	0.0032	0.0004	0.0013	0.0001	0.0002	0.0025	0.0011	0.0117	0.0028137	435	154602	rs138807504	0.0019	0.0019	0.0015	0.0023	0.0124	0.0018	0.0018	0.0118	0.0115	0.0002	0.0018	0.0147	2.519e-05	5.616e-05	0.0097	0.0008	0.0034	0.0124	0.0016	0.0016	0.0016	0.0017	0.0099	0.0015	0.0014	0.0077	0.0069	0.0002	0	0.0022	0.0159	0.0002	0	0.0068	0.0014	0.0047	0.0099	0.017	0.51248	D	0.166	0.30828	T	0.101	0.25775	B	0.089	0.29769	B	0.169227	0.17425	N	0.634407	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-2.66	0.56945	D	0.107	0.09207	-0.9185	0.45756	T	0.184	0.53300	T	10	0.0043498874	0.00088	T	.	.	.	0.033	0.08068	0.346	0.34112	0.327686398923	0.32377	0.2536032118238763	0.25274	0.108388790355	0.12225	0.329630196095	0.14878	T	0.028211	0.20489	T	-0.297241	0.08923	T	-0.189354	0.55651	T	0.0096409445773623	0.00125	T	0.587141	0.21465	T	0.2186705	0.44381	0.16745007	0.38630	0.1864944	0.40060	0.14031756	0.33450	-3.88	0.22002	T	0.09196841842984388	0.05891	0.146	0.32178	B	.	.	0.885631	0.12589	9.117	0.82264938501959017	0.14103	0.10581	0.16048	N	AEFBI	0.094015	0.19016	N	-0.67969589964495	0.16601	0.8472733	-0.664644720180829	0.17848	0.9508148	1.9370839959032E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.87	1.86	0.24489	-0.061000	0.11650	0.546000	0.19377	-0.127000	0.13314	0.004000	0.16614	0.043000	0.21642	0.612000	0.31691	0.2898:0.0:0.7102:0.0	6.860	0.23241	818	0.41518	Transglutaminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009073	0.000000	0.009511	0.002924	0.000000	0.000000	0.015244	0.019084	0.08333	1605.83	68	chr20	2432517	.	G	C	1605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.89;DP=351;ExcessHet=0;FS=2.434;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.108;SOR=0.477	GT:AD:DP:GQ:PL	0/1:53,61:114:99:1616,0,1417	5	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	.	.	.	.	.	.	.	.	0.3333	206.97	85	chr20	3803192	.	G	C	206.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.466;DP=611;ExcessHet=0.4139;FS=238.819;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.52;SOR=8.838	GT:AD:DP:GQ:PL	0/1:66,11:88:43:43,0,2445	1	0	2	3
chr20	18472891	18472891	A	G	exonic	POLR3F	.	nonsynonymous SNV	POLR3F:NM_001282526:exon3:c.A107G:p.K36R,POLR3F:NM_006466:exon3:c.A230G:p.K77R	.	440	1080	2	0	0	2	0.000925069	.	.	.	1897554	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0073204052741	.	.	0.0001	0	0.0002	0	0	0.0002	0	0	0.00011	17	154602	rs776454367	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	0.0001	0.0013	0.0010	0.0003	0.0002	0.0024	0	0	0.0022	6.057e-05	0.0003	0	0.0001	0.0001	0.0002	9.401e-05	0.0003	8.662e-05	7.254e-05	8.872e-05	5.283e-05	2.405e-05	0	0.0003	0.0014	0	0	0.0068	8.822e-05	0.0009	0	0.103	0.30097	T	0.358	0.17064	T	0.426	0.35504	B	0.21	0.37304	B	0.000000	0.84330	D	0.042828	1	0.81001	D	1.545	0.39105	L	.	.	.	-2.31	0.51319	N	0.606	0.62357	-0.8835	0.49480	T	0.180	0.52660	T	9	0.1310488	0.24941	T	0.00732	0.19415	T	0.173	0.43840	.	.	0.544037764837	0.54058	0.4643727639454928	0.46356	0.586708081011	0.54259	0.731309711933	0.71697	T	0.067437	0.33201	T	-0.0217955	0.48597	T	0.034045	0.72540	D	0.0682305159850144	0.08401	T	0.908709	0.67605	D	0.316567	0.54348	0.35166436	0.60757	0.316567	0.54348	0.35166436	0.60756	-3.747	0.20015	T	.	.	0.096	0.15251	B	.	.	4.277518	0.65129	24.8	0.99620687163175636	0.75413	0.99436	0.96005	D	AEBI	0.854353	0.77137	D	0.252264156714017	0.53750	3.542654	0.402353881758173	0.61713	4.375166	0.999998890081472	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.88	5.88	0.94564	8.582000	0.90577	11.134000	0.86880	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.302	0.82649	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	348.07	9	chr20	18472891	.	A	G	348.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.09;DP=126;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.565;SOR=0.631	GT:AD:DP:GQ:PL	0/1:15,7:22:99:127,0,357	4	0	2	0
chr20	20605250	20605250	C	T	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon15:c.G1963A:p.V655I	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	.	0.0004	0.0101837	0.0096	0.0009	0.0958	0	0	0.0002	0.0045	0.0017	0.0088744	1372	154602	rs142419151	0.0028	0.0028	0.0032	0.0024	0.0811	0.0027	0.0027	0.0789	0.0780	0.0010	0.0811	0	5.042e-05	1.873e-05	0	7.555e-05	0.0025	0.0020	0.0044	0.0044	0.0042	0.0047	0.0391	0.0042	0.0041	0.0365	0.0355	0.0014	0	0.0391	0	0.0002	9.423e-05	0	0.0001	0.0043	0.0004	0.02	0.49613	D	0.022	0.57587	D	0.998	0.73220	D	0.814	0.58796	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.66	0.77858	M	-3.85	0.95859	D	-0.39	0.13611	N	0.689	0.69474	0.207	0.86023	D	0.641	0.87442	D	10	0.0046809316	0.00098	T	.	.	.	0.582	0.83193	.	.	.	.	0.3620195778390234	0.36115	0.364196637899	0.38030	0.515447020531	0.40986	T	0.046296	0.27383	T	-0.15235	0.27944	T	0.0734686	0.75142	D	0.0514276189067211	0.05748	T	0.963304	0.86380	D	0.14902106	0.33993	0.12265614	0.29584	0.14902106	0.33993	0.12265614	0.29583	-8.242	0.62707	D	.	.	0.119	0.38924	B	.;.	.;.	5.192901	0.87098	29.1	0.99894319107785701	0.96742	0.93864	0.59412	D	AEFBCI	0.851844	0.76872	D	0.7047501733968	0.79945	7.186076	0.68050161549174	0.80900	7.402858	0.999999999548671	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	6.017000	0.52736	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.662000	0.33024	0.0:1.0:0.0:0.0	18.615	0.91254	460	0.78750	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3611.06	36	chr20	20605250	.	C	T	3611.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.12;DP=445;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.016;SOR=0.692	GT:AD:DP:GQ:PL	0/1:81,76:157:99:2014,0,1876	4	0	2	0
chr20	23086009	23086009	T	A	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.A184T:p.T62S	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	.	0.00299521	0.0029	0	0.0004	0.0003	0	0	0.0031	0.0199	0.0019793	306	154602	rs200399999	0.0011	0.0011	0.0005	0.0016	0.0173	0.0010	0.0010	0.0165	0.0162	0	0	0	2.522e-05	0	0.0004	1.35e-05	0.0010	0.0173	0.0006	0.0006	0.0002	0.0009	0.0174	0.0005	0.0004	0.0144	0.0133	0	0	0	0	0	0	0	1.47e-05	0	0.0174	0.124	0.27426	T	0.212	0.26549	T	0.568	0.38507	P	0.229	0.38155	B	0.029597	0.25432	N	0.335554	0.934171	0.37079	D	1.335	0.33326	L	2.28	0.17271	T	-3.11	0.63669	D	0.208	0.23125	-1.0517	0.13926	T	0.029	0.12673	T	10	0.009301722	0.00210	T	.	.	.	0.043	0.11576	0.512	0.61000	0.506068822696	0.50244	0.7513044268119508	0.75077	0.181927384092	0.20455	0.435798406601	0.30002	T	0.219036	0.58192	T	-0.612161	0.00123	T	-0.638477	0.09780	T	0.0559079456287644	0.06509	T	0.552145	0.19060	T	0.13302822	0.30956	0.14809416	0.35020	0.13302822	0.30955	0.14809416	0.35019	-6.504	0.50317	T	.	.	0.259	0.49343	B	.	.	3.685521	0.52486	23.2	0.99222911408788894	0.55963	0.66854	0.33224	D	AEFDGBCIJ	0.375655	0.46010	N	-0.0119406354971464	0.41315	2.469032	0.0837261468908496	0.43731	2.668804	0.999999985983009	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.56214	0.19341	0	.	.	5.88	3.43	0.38372	2.504000	0.45076	4.854000	0.45404	0.660000	0.55035	0.992000	0.37556	1.000000	0.68203	0.854000	0.40426	0.247:0.0:0.1432:0.6097	6.670	0.22254	892	0.26670	C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.1667	2640.06	36	chr20	23086009	.	T	A	2640.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.82;DP=325;ExcessHet=0.4139;FS=1.849;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.436;SOR=0.663	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1359,0,901	4	0	2	0
chr20	23493042	23493042	G	A	exonic	CST8	.	nonsynonymous SNV	CST8:NM_001281730:exon3:c.G316A:p.A106T,CST8:NM_005492:exon3:c.G316A:p.A106T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00272100613991	7.7e-05	.	0.0001	0	0	0	0	4.498e-05	0	0.0006	9.06e-05	14	154602	rs374838890	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	9.781e-05	0.0011	0.0008	0	0	3.827e-05	0	0	0.0019	6.396e-05	8.289e-05	0.0010	3.946e-05	3.941e-05	3.856e-05	4.042e-05	0.0002	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.416e-05	0	0	0	0	0	0	5.882e-05	0	0.0002	0.265	0.16305	T	0.238	0.24621	T	0.022	0.18677	B	0.009	0.14300	B	0.286808	0.03868	N	1.515170	1	0.08975	N	1.5	0.37844	L	1.77	0.25841	T	-0.59	0.17624	N	0.128	0.12198	-1.0320	0.19809	T	0.043	0.18576	T	10	0.028294206	0.00963	T	0.002721	0.05608	T	0.011	0.01250	.	.	0.104622674875	0.10061	0.14908900613425222	0.14830	0.00181570716921	0.00154	0.340989351273	0.16586	T	0.073552	0.34725	T	-0.549334	0.00294	T	-0.655771	0.08555	T	0.016346734734131	0.00404	T	0.320668	0.06474	T	0.038762882	0.05227	0.045202244	0.06031	0.038762882	0.05227	0.045202244	0.06031	-3.691	0.19185	T	.	.	0.071	0.04238	B	.;.	.;.	0.136433	0.05311	1.802	0.86259552429103714	0.16417	0.03992	0.09411	N	AEFBHCI	0.030644	0.03124	N	-1.34596819581022	0.03167	0.1410232	-1.41071143595939	0.03144	0.1460932	1.53192748259975E-4	0.05650	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	-2.25	0.06498	-0.467000	0.06741	-4.772000	0.01993	-0.683000	0.04200	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4629:0.0:0.3812:0.1559	4.346	0.10570	867	0.32089	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1413.06	36	chr20	23493042	.	G	A	1413.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.961;DP=266;ExcessHet=0.4139;FS=0.669;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.079;SOR=0.709	GT:AD:DP:GQ:PL	0/1:25,33:58:99:841,0,542	4	0	2	0
chr20	32435669	32435669	A	G	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.A2774G:p.N925S,ASXL1:NM_015338:exon12:c.A2957G:p.N986S	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1512	9	1	0	11	0.00362438	.	.	.	137318	not_provided|Bohring-Opitz_syndrome|ASXL1-related_disorder|Myelodysplastic_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297|.|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00287937127919	0.0023	0.000399361	0.0013	9.615e-05	0.0008	0.0007	0	0.0019	0	0.0005	0.0013195	204	154602	rs145132837	0.0018	0.0018	0.0018	0.0018	0.0020	0.0017	0.0017	0.0020	0.0019	0.0003	0.0014	0.0044	0.0003	7.49e-05	0.0014	0.0020	0.0019	0.0005	0.0017	0.0017	0.0016	0.0018	0.0025	0.0015	0.0015	0.0022	0.0021	0.0001	0.0022	0.0025	0.0075	0.0012	0.0003	0.0034	0.0025	0.0014	0.0006	0.151	0.24857	T	0.845	0.03558	T	0.009	0.15093	B	0.005	0.11217	B	0.330902	0.14115	N	0.727897	1	0.08975	N	1.11	0.28643	L	1.87	0.24085	T	-0.56	0.17003	N	0.063	0.03726	-0.9985	0.30339	T	0.039	0.16978	T	10	0.0051077306	0.00111	T	0.002879	0.06074	T	0.020	0.03691	.	.	0.126345400529	0.12197	0.030680859498734895	0.03017	0.0534759902749	0.05892	0.282768934965	0.07882	T	0.055025	0.29890	T	-0.696376	0.00038	T	-0.777063	0.02543	T	0.000305340770864859	0.00002	T	0.680532	0.28920	T	0.017027032	0.00240	0.05065519	0.07992	0.015127004	0.00123	0.049534667	0.07589	-3.295	0.13673	T	.	.	0.077	0.08176	B	.;.;.;.;.	.;.;.;.;.	-1.336153	0.00408	0.008	0.93936370988142259	0.23988	0.16473	0.19405	N	AEFBCI	0.047949	0.08131	N	-1.08364839230901	0.06944	0.3211358	-1.12417870711987	0.07240	0.3514304	0.773234124788052	0.23708	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.66	-1.88	0.07294	-0.231000	0.09081	-4.290000	0.02235	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.5541:0.0:0.4459:0.0	11.098	0.47378	519	0.74455	.;.;.;.;.	.	.	.	.	.	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	0.006042	0.005051	0.010870	0.000000	0.050000	0.000000	0.003049	0.003788	0.1667	4307.06	35	chr20	32435669	.	A	G	4307.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.23;DP=441;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.653;SOR=0.684	GT:AD:DP:GQ:PL	0/1:57,82:139:99:2377,0,1607	4	0	2	0
chr20	32436667	32436667	C	T	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.C3772T:p.P1258S,ASXL1:NM_015338:exon12:c.C3955T:p.P1319S	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00234619182913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.05046	T	0.647	0.06812	T	0.051	0.22415	B	0.007	0.12992	B	0.202382	0.16567	N	0.652897	0.999991	0.08975	N	1.305	0.32671	L	2.62	0.13095	T	-1.06	0.27669	N	0.026	0.03392	-0.9583	0.39497	T	0.013	0.04938	T	10	0.057924688	0.06729	T	0.002346	0.04535	T	0.074	0.21613	0.15	0.05339	0.303781844768	0.29979	0.20936668306980485	0.20852	0.0586657663734	0.06507	0.30590519309	0.11288	T	0.061518	0.31675	T	-0.351967	0.04604	T	-0.743353	0.03751	T	0.0417370668123628	0.04006	T	0.69713	0.30670	T	0.02102082	0.00684	0.046230048	0.06399	0.02102082	0.00684	0.046230048	0.06398	-3.551	0.17153	T	.	.	0.095	0.19720	B	.;.;.;.;.	.;.;.;.;.	1.624040	0.20739	14.89	0.68307778012287201	0.08618	0.60874	0.31321	D	AEFDBCI	0.068982	0.13634	N	-0.655114491498599	0.17311	0.8897191	-0.496746223180536	0.22244	1.207208	0.848939423267093	0.25007	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.56	2.61	0.30255	0.923000	0.28364	2.640000	0.33748	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.259000	0.23493	0.1616:0.4635:0.1811:0.1938	1.485	0.02298	516	0.74704	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2996.06	35	chr20	32436667	.	C	T	2996.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.251;DP=400;ExcessHet=0.4139;FS=3.014;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.011;SOR=0.892	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1736,0,2136	4	0	2	0
chr20	33083769	33083769	T	G	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon3:c.T572G:p.L191R	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0013	0.00459265	0.0047	0.0002	0.0009	0.0001	0	0.0022	0.0158	0.0237	0.0040297	623	154602	rs144272671	0.0027	0.0027	0.0020	0.0035	0.0228	0.0027	0.0026	0.0220	0.0216	0.0001	0.0008	0.0041	0.0001	0.0004	0.0223	0.0014	0.0036	0.0228	0.0017	0.0018	0.0012	0.0024	0.0227	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0008	0.0046	0.0006	0	0.0068	0.0016	0.0038	0.0227	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.419352	0.12891	N	0.672431	0.854418	0.35277	D	0.975	0.24501	L	4.9	0.01421	T	-0.7	0.19933	N	0.675	0.68255	-0.7879	0.55851	T	0.011	0.03903	T	10	0.005472988	0.00121	T	.	.	.	0.134	0.36365	.	.	0.437850553699	0.43404	0.6371477978752561	0.63648	0.427416486796	0.43086	0.647883415222	0.59685	T	0.00806	0.07418	T	-0.395404	0.02482	T	-0.323162	0.42226	T	0.0287560068156817	0.01800	T	0.717528	0.33029	T	0.3704387	0.58618	0.3850638	0.63432	0.3704387	0.58618	0.3850638	0.63432	-10.483	0.76749	D	.	.	0.627	0.69979	P	.	.	4.390380	0.67755	25.1	0.99700333214650194	0.80591	0.93071	0.57254	D	AEFDGBI	0.347638	0.44204	N	0.237604612350497	0.53029	3.473762	0.162506508952896	0.47808	3.005565	0.0105271983690197	0.12039	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	1.103000	0.30674	7.682000	0.65344	0.644000	0.52426	0.073000	0.22155	1.000000	0.68203	0.776000	0.36750	0.0:0.0:0.0:1.0	8.272	0.31011	101	0.95833	Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.006793	0.011765	0.100000	0.008621	0.024390	0.011364	0.1667	1347.06	81	chr20	33083769	.	T	G	1347.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.69;DP=284;ExcessHet=0.4139;FS=5.351;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.168;SOR=1.246	GT:AD:DP:GQ:PL	0/1:17,35:52:99:935,0,442	4	0	2	0
chr20	33791036	33791036	G	A	exonic	ZNF341	.	nonsynonymous SNV	ZNF341:NM_001282935:exon14:c.G1814A:p.R605H,ZNF341:NM_001282933:exon15:c.G2084A:p.R695H,ZNF341:NM_032819:exon15:c.G2063A:p.R688H	.	413	1108	1	0	0	1	0.00045106	.	.	.	1544965	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.218	0.041523307382	.	0.000199681	0.0004	0	0.0004	0	0	4.624e-05	0.0011	0.0027	0.0003493	54	154602	rs548237921	0.0002	0.0002	8.716e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0018	0	0.0002	0	0.0001	0	0	1.709e-05	0.0001	0.0021	7.877e-05	7.874e-05	7.708e-05	8.055e-05	0.0012	4.493e-05	3.509e-05	0.0005	0.0004	0	0	0.0001	0	0.0002	0	0	4.41e-05	0	0.0012	0.181	0.21884	T	0.071	0.43531	T	0.999	0.77913	D	0.897	0.67350	P	0.000149	0.49130	D	0.134170	0.999359	0.46766	D	0.975	0.24501	L	0.14	0.60854	T	-2.01	0.46842	N	0.597	0.61596	-0.8231	0.53739	T	0.224	0.58792	T	10	0.04627958	0.03800	T	0.041523	0.59975	D	0.218	0.51265	0.521	0.62368	0.840929399852	0.83941	0.4898094758102553	0.48900	0.959823944306	0.72958	0.846923410892	0.89149	D	0.061897	0.31775	T	-0.359052	0.04184	T	-0.294078	0.45347	T	0.178346416977415	0.19130	T	0.771723	0.40231	T	0.04005627	0.05647	0.05085996	0.08067	0.04005627	0.05647	0.05085996	0.08066	-8.798	0.66387	D	.	.	0.534	0.70718	A	.;.	.;.	5.689925	0.93051	33	0.99947807668314459	0.99923	0.93417	0.58161	D	AEFDBCI	0.746548	0.68888	D	0.514632714167644	0.67956	5.151144	0.507147180693037	0.68471	5.224453	0.999994557930334	0.74766	0.614807	0.35715	0	0.53679	0.11191	0	0.616094	0.41390	0	0.528226	0.09195	0	.	.	4.39	3.42	0.38259	6.456000	0.73418	9.889000	0.82259	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0826:0.1463:0.7711:0.0	9.327	0.37159	244	0.90442	.;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	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	1903.06	33	chr20	33791036	.	G	A	1903.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.28;DP=302;ExcessHet=0.4139;FS=3.661;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.246;SOR=1	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1076,0,888	4	0	2	0
chr20	34076795	34076795	C	A	exonic	RALY	.	nonsynonymous SNV	RALY:NM_007367:exon6:c.C590A:p.A197E,RALY:NM_016732:exon7:c.C638A:p.A213E	.	423	1075	24	0	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0051	0.00339457	0.0096	0.0010	0.0012	0	0.0327	0.0103	0.0103	0.0134	0.008551	1322	154602	rs148075348	0.0076	0.0076	0.0075	0.0078	0.0140	0.0075	0.0075	0.0133	0.0130	0.0007	0.0017	0.0034	0	0.0323	0.0047	0.0068	0.0064	0.0140	0.0071	0.0071	0.0061	0.0081	0.0118	0.0068	0.0066	0.0093	0.0085	0.0010	0.0099	0.0041	0.0040	0	0.0358	0.0068	0.0075	0.0033	0.0118	1.0	0.12920	T	0.599	0.16570	T	0.0	0.02946	B	0.0	0.01387	B	0.001416	0.39109	N	0.244458	0.994676	0.23467	N	-2.135	0.00144	N	1.53	0.30401	T	1.18	0.01107	N	0.13	0.16725	-1.0155	0.25175	T	0.017	0.06759	T	10	0.0016791523	0.00021	T	.	.	.	0.057	0.16321	.	.	0.187035705434	0.18338	0.3971919153121041	0.39634	0.621268039398	0.56420	0.40137887001	0.25261	T	0.049339	0.28278	T	-0.53741	0.00347	T	-0.533052	0.18982	T	0.00179886548524983	0.00018	T	0.709529	0.33779	T	0.08320371	0.19204	0.1449199	0.34389	0.08320371	0.19204	0.1449199	0.34388	-5.046	0.37336	T	.	.	0.079	0.16713	B	.;.;.;.	.;.;.;.	1.151528	0.15394	11.82	0.66063386173952132	0.07950	0.13044	0.17631	N	AEFDGBCI	0.086631	0.17565	N	-0.911816212703854	0.10564	0.5054548	-0.691790987993765	0.17165	0.9115154	0.999739836270387	0.42341	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.44	3.13	0.35090	2.806000	0.47644	6.492000	0.55762	-0.306000	0.06133	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.6597:0.3403:0.0:0.0	12.228	0.53784	135	0.94622	.;.;.;.	.	.	.	.	rs148075348	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.005051	0.005435	0.014620	0.000000	0.025862	0.015337	0.011364	0.1667	1761.06	35	chr20	34076795	.	C	A	1761.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.25;DP=274;ExcessHet=0.4139;FS=1.4;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.13;SOR=0.544	GT:AD:DP:GQ:PL	0/1:43,35:78:99:1020,0,1128	4	0	2	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	.	.	.	.	.	.	.	.	0.3333	714.03	118	chr20	34852409	.	G	C	714.03	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.086;DP=729;ExcessHet=3.1439;FS=260.158;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.58;SOR=9.773	GT:AD:DP:GQ:PL	0/1:95,38:148:99:110,0,1740	2	0	4	0
chr20	37198448	37198448	C	G	exonic	RPN2	.	nonsynonymous SNV	RPN2:NM_001324299:exon3:c.C259G:p.L87V,RPN2:NM_001324301:exon3:c.C259G:p.L87V,RPN2:NM_001324302:exon3:c.C259G:p.L87V,RPN2:NM_001324303:exon3:c.C259G:p.L87V,RPN2:NM_001324304:exon3:c.C259G:p.L87V,RPN2:NM_001324305:exon3:c.C259G:p.L87V,RPN2:NM_002951:exon3:c.C259G:p.L87V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0103287833764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.25154	T	0.077	0.42436	T	0.243	0.30970	B	0.136	0.33270	B	0.000175	0.48594	D	0.141330	0.999417	0.81001	D	1.465	0.36909	L	0.89	0.45636	T	-0.71	0.21860	N	0.465	0.50146	-1.0652	0.10502	T	0.097	0.36419	T	10	0.35368067	0.52169	T	0.010329	0.26741	T	0.051	0.14325	0.682	0.81982	0.552615868945	0.54919	0.5223082908815949	0.52153	0.282424852503	0.30701	0.593450725079	0.51981	T	0.063561	0.32207	T	-0.159919	0.26773	T	-0.467489	0.25786	T	0.567760944366455	0.35149	D	0.89941	0.64770	D	0.111771375	0.26410	0.10968393	0.26437	0.111771375	0.26409	0.10968393	0.26436	-3.996	0.23744	T	.	.	0.083	0.20934	B	.;.	.;.	2.523405	0.32609	19.09	0.99266358720967462	0.57390	0.96148	0.67752	D	AEFDBI	0.449115	0.50407	N	0.0248324785575206	0.42985	2.60053	0.182657573791992	0.48896	3.09963	0.999989981043621	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	2.784000	0.47462	4.059000	0.41572	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.870000	0.41412	0.0:1.0:0.0:0.0	16.252	0.82316	352	0.85375	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3389.06	37	chr20	37198448	.	C	G	3389.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.401;DP=481;ExcessHet=0.4139;FS=4.471;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=1.2;SOR=0.487	GT:AD:DP:GQ:PL	0/1:81,77:158:99:1859,0,2215	4	0	2	0
chr20	43566523	43566523	A	C	exonic	SGK2	.	nonsynonymous SNV	SGK2:NM_016276:exon1:c.A208C:p.S70R,SGK2:NM_001199264:exon2:c.A28C:p.S10R,SGK2:NM_170693:exon2:c.A28C:p.S10R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0265517296392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.237	0.29843	T	0.018	0.32767	B	0.021	0.28749	B	0.367953	0.04344	N	1.530280	0.619301	0.32691	D	0.895	0.22405	L	-0.57	0.71425	T	-0.92	0.32991	N	0.289	0.32701	-0.8588	0.51348	T	0.195	0.54884	T	10	0.19394857	0.42986	T	0.026552	0.49448	D	0.173	0.43840	0.206	0.12216	0.788914174019	0.78696	0.498051164515856	0.49726	0.255115430892	0.28099	0.464425474405	0.33916	T	0.118386	0.43917	T	-0.0116313	0.50036	T	-0.254484	0.49374	T	0.555326342582703	0.34678	D	0.753825	0.37593	T	0.1302686	0.30401	0.17129673	0.39302	0.1302686	0.30401	0.17129673	0.39301	-9.223	0.69121	D	.	.	0.259	0.49373	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.995237	0.40004	21.1	0.99106778923680516	0.52623	0.83433	0.42550	D	AEFBI	0.370340	0.45675	N	-0.361926627025461	0.26837	1.467717	-0.254788719182319	0.29605	1.660079	0.00453469863688006	0.10604	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.62	3.62	0.40616	3.553000	0.53459	3.826000	0.39973	0.756000	0.94297	0.975000	0.34726	0.996000	0.32793	0.619000	0.31870	1.0:0.0:0.0:0.0	8.924	0.34785	709	0.56835	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1079.06	34	chr20	43566523	.	A	C	1079.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.1;DP=275;ExcessHet=0.4139;FS=0.68;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=1.19;SOR=0.813	GT:AD:DP:GQ:PL	0/1:50,26:76:99:525,0,1351	4	0	2	0
chr20	50581336	50581336	C	T	exonic	PTPN1	.	nonsynonymous SNV	PTPN1:NM_001278618:exon8:c.C941T:p.P314L,PTPN1:NM_002827:exon9:c.C1160T:p.P387L	.	419	1083	20	0	0	20	0.00914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0119604484481	0.0050	0.00239617	0.0053	0.0014	0.0020	0	0.0055	0.0082	0.0044	0.0009	0.005291	818	154602	rs16995309	0.0059	0.0059	0.0061	0.0058	0.0070	0.0058	0.0058	0.0068	0.0068	0.0007	0.0032	0.0036	0	0.0045	0.0031	0.0070	0.0050	0.0012	0.0049	0.0049	0.0053	0.0045	0.0073	0.0046	0.0045	0.0068	0.0066	0.0013	0.0308	0.0048	0.0055	0	0.0047	0.0034	0.0073	0.0076	0.0006	0.078	0.35726	T	0.214	0.26467	T	0.072	0.23997	B	0.05	0.25278	B	0.060419	0.22250	N	0.410909	0.999999	0.08975	N	1.445	0.36358	L	3.54	0.04799	T	-1.93	0.44852	N	0.047	0.01911	-0.9353	0.43349	T	0.007	0.02598	T	10	0.0034552217	0.00061	T	0.01196	0.30096	T	0.022	0.04323	.	.	0.082315109003	0.07666	0.36964659642135433	0.36878	0.763203918308	0.64373	0.295468509197	0.09727	T	0.016831	0.65741	T	-0.677687	0.00049	T	-0.736832	0.04025	T	0.00437208734499863	0.00047	T	0.458554	0.13215	T	0.02661505	0.01741	0.033439793	0.02239	0.02661505	0.01740	0.033439793	0.02239	-3.761	0.20223	T	.	.	0.070	0.03625	B	.;.	.;.	0.720794	0.10898	7.570	0.69860415979195511	0.09108	0.07621	0.13630	N	AEFDBHCI	0.040497	0.06031	N	-1.18488720489058	0.05228	0.2378467	-1.13334441732454	0.07071	0.3425795	0.999999972051375	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	3.14	0.35196	1.657000	0.36981	0.790000	0.21560	-0.172000	0.11096	0.004000	0.16614	0.000000	0.08366	0.007000	0.07825	0.1068:0.6699:0.1036:0.1197	7.038	0.24182	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	.	.	.	.	.	.	.	.	0.08333	1171.83	42	chr20	50581336	.	C	T	1171.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-2.308;SOR=0.723	GT:AD:DP:GQ:PL	0/1:55,45:100:99:1182,0,1325	5	0	1	0
chr20	53581599	53581599	T	C	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon2:c.A1228G:p.M410V,ZNF217:NM_006526:exon2:c.A1228G:p.M410V	.	432	1009	76	5	0	86	0.0408745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0040	0.0131789	0.0112	0.0007	0.0050	0.0001	0.0044	0.0068	0.0166	0.0479	0.0100969	1561	154602	rs6068589	0.0080	0.0080	0.0066	0.0095	0.0474	0.0079	0.0078	0.0462	0.0457	0.0008	0.0044	0.0037	0.0001	0.0034	0.0350	0.0058	0.0079	0.0474	0.0056	0.0057	0.0051	0.0062	0.0436	0.0053	0.0052	0.0387	0.0369	0.0009	0	0.0040	0.0035	0.0002	0.0032	0.0238	0.0071	0.0066	0.0436	1.0	0.00964	T	0.373	0.16328	T	0.005	0.12996	B	0.004	0.10090	B	0.593015	0.05603	N	1.230860	1	0.08975	N	0.365	0.12025	N	3.16	0.07711	T	-0.44	0.14588	N	0.009	0.00252	-0.9525	0.40538	T	0.013	0.05225	T	10	0.0018404424	0.00025	T	.	.	.	0.014	0.01968	.	.	.	.	0.10227051858658619	0.10157	0.22842857525	0.25396	0.300081849098	0.10412	T	0.067626	0.33250	T	-0.707244	0.00033	T	-0.753646	0.03346	T	0.00367050087191358	0.00039	T	0.476852	0.14330	T	0.109267846	0.25833	0.07645901	0.16935	0.109267846	0.25833	0.07645901	0.16935	-2.293	0.04517	T	.	.	0.061	0.01092	B	.;.	.;.	-0.380819	0.02285	0.239	0.41343242720419293	0.02976	0.20278	0.20981	N	AEFDBHCI	0.079442	0.16045	N	-0.912887780753247	0.10540	0.5041327	-0.941171445694149	0.11128	0.5650487	0.999992307601255	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.97	-0.223	0.12472	-0.173000	0.09844	-0.621000	0.08173	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.324000	0.25064	0.2377:0.1261:0.0:0.6362	4.776	0.12551	991	0.01385	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020645	0.000000	0.014946	0.020468	0.000000	0.008621	0.021341	0.034091	0.1667	2562.06	34	chr20	53581599	.	T	C	2562.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.958;DP=305;ExcessHet=0.4139;FS=1.911;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.79;SOR=0.853	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1226,0,959	4	0	2	0
chr20	63529579	63529579	C	T	exonic	PTK6	.	nonsynonymous SNV	PTK6:NM_005975:exon8:c.G1313A:p.R438Q	.	418	1103	1	0	0	1	0.000453104	.	.	.	2299470	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.0268214910795	.	.	7.781e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs761742593	1.194e-05	1.436e-05	6.956e-06	1.703e-05	6.123e-05	7.28e-06	5.95e-06	1.014e-05	4.63e-06	6.123e-05	2.534e-05	0	0	0	0	1.098e-05	1.698e-05	1.231e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0.0002	0	0	0	0.0005	0	.	.	.	1.0	0.01155	T	0.082	0.24665	B	0.004	0.10090	B	0.798461	0.06755	U	1.180650	1	0.08975	N	0.345	0.11182	N	.	.	.	.	.	.	0.068	0.04072	-0.7032	0.60285	T	0.377	0.73475	T	10	0.053588837	0.05573	T	0.026821	0.49694	D	0.170	0.43303	0.549	0.66436	0.307016933798	0.30308	0.2667125756232915	0.26584	.	.	0.18622007966	0.00165	T	0.193785	0.54936	T	-0.375719	0.03314	T	-0.575748	0.14927	T	0.0172320418059826	0.00465	T	0.433057	0.11799	T	0.13972408	0.32265	0.08435183	0.19397	0.13972408	0.32264	0.08435183	0.19397	-2.885	0.08994	T	.	.	0.076	0.05845	B	.	.	0.592812	0.09614	6.386	0.48895257346515147	0.04118	0.03132	0.08084	N	AEFDGBCI	0.030355	0.03037	N	-1.41355371337105	0.02519	0.1113456	-1.38112468535294	0.03453	0.1611097	0.0248709224447082	0.13609	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	4.7	1.16	0.19936	0.322000	0.19323	-2.104000	0.04207	-1.007000	0.01781	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4241:0.259:0.0:0.3169	2.247	0.03786	.	.	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	434.83	33	chr20	63529579	.	C	T	434.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.04;DP=214;ExcessHet=0;FS=4.879;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.271;SOR=1.579	GT:AD:DP:GQ:PL	0/1:23,16:39:99:445,0,517	5	0	1	0
chr20	63541342	63541344	GTC	-	exonic	SRMS	.	nonframeshift deletion	SRMS:NM_080823:exon7:c.1132_1134del:p.D378del	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0012	0.0004	0.0005	0.0042	0	0.0002	0.0013	0.0079	0.000461	12	26028	rs373947266	0.0006	0.0006	0.0004	0.0009	0.0069	0.0006	0.0006	0.0064	0.0062	0.0007	0.0001	4.65e-05	0.0042	0	0.0022	6.119e-05	0.0013	0.0069	0.0006	0.0006	0.0005	0.0008	0.0075	0.0005	0.0005	0.0055	0.0049	0.0006	0	0.0003	0	0.0035	0	0	0.0001	0.0019	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	2239.79	39	chr20	63541341	.	TGTC	T	2239.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.698;DP=317;ExcessHet=0;FS=4.483;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=-0.495;SOR=0.509	GT:AD:DP:GQ:PL	0/1:60,58:118:99:2250,0,2292	5	0	1	0
chr21	32314646	32314646	C	T	exonic	MRAP	.	nonsynonymous SNV	MRAP:NM_206898:exon5:c.C302T:p.A101V	Glucocorticoid deficiency 2, Autosomal recessive	1	1459	60	2	0	64	0.0214621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0008	0.00259585	0.0045	0.0003	0.0053	0	0.0003	0.0026	0.0077	0.0179	0.0040103	620	154602	rs140113354	0.0029	0.0029	0.0023	0.0034	0.0182	0.0028	0.0028	0.0166	0.0164	0.0002	0.0029	0.0047	2.519e-05	0.0004	0.0182	0.0019	0.0034	0.0174	0.0018	0.0018	0.0017	0.0019	0.0135	0.0016	0.0015	0.0109	0.0099	0.0002	0	0.0014	0.0066	0.0004	0	0.0034	0.0022	0.0009	0.0135	0.0	0.91255	D	0.606	0.07791	T	0.259	0.31472	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	.	.	.	-2.28	0.87512	D	-0.85	0.23156	N	0.107	0.09207	-0.5881	0.65296	T	0.406	0.75579	T	8	0.0033186674	0.00057	T	.	.	.	0.074	0.21613	.	.	0.68305478711	0.68035	.	.	.	.	.	.	.	.	.	.	-0.414334	0.01861	T	-0.353658	0.38785	T	0.0168495364615181	0.00438	T	0.246275	0.03611	T	.	.	.	.	.	.	.	.	-4.201	0.26766	T	.	.	0.103	0.18622	B	.	.	0.334611	0.07086	3.655	0.47159206942495985	0.03834	0.02825	0.07564	N	AEFDBI	0.029273	0.02734	N	-0.966890229928245	0.09318	0.4404703	-1.08494191079485	0.07996	0.3912705	0.955570176257896	0.28197	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	2.81	0.89	0.18352	-0.665000	0.05386	-1.620000	0.05046	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5902:0.2624:0.1474	4.015	0.09128	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013458	0.005051	0.009511	0.003472	0.000000	0.034483	0.015244	0.045455	0.08333	963.83	37	chr21	32314646	.	C	T	963.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.201;DP=269;ExcessHet=0;FS=2.842;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.493;SOR=0.402	GT:AD:DP:GQ:PL	0/1:48,43:91:99:974,0,1236	5	0	1	0
chr21	32363296	32363296	A	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon11:c.T1369A:p.S457T	.	431	1045	45	1	0	47	0.0219934	.	.	.	728857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0013	0.00279553	0.0090	0.0005	0.0049	0	0.0006	0.0026	0.0083	0.0211	0.0017141	265	154602	rs148292685	0.0028	0.0027	0.0023	0.0033	0.0188	0.0027	0.0027	0.0173	0.0170	0.0002	0.0023	0.0046	0	0.0003	0.0188	0.0018	0.0034	0.0181	0.0018	0.0018	0.0017	0.0019	0.0158	0.0017	0.0016	0.0129	0.0119	0.0002	0	0.0014	0.0066	0.0004	0	0.0034	0.0022	0.0009	0.0158	0.097	0.30943	T	0.0	0.92824	D	0.639	0.40375	P	0.122	0.32387	B	0.000169	0.48594	D	0.142475	0.991012	0.41288	D	1.655	0.42436	L	0.9	0.45248	T	-1.25	0.31576	N	0.441	0.47949	-1.0521	0.13818	T	0.087	0.33606	T	10	0.009563148	0.00215	T	.	.	.	0.093	0.26882	.	.	0.251639045875	0.24756	0.45412995113789095	0.45330	.	.	0.485400110483	0.36802	T	0.007222	0.06635	T	-0.498359	0.00584	T	-0.473039	0.25191	T	0.0195881834834753	0.00662	T	0.570043	0.20293	T	0.043129303	0.06666	0.06393683	0.12740	0.043129303	0.06665	0.06393683	0.12740	-3.765	0.20282	T	.	.	0.088	0.11701	B	.	.	2.918152	0.38732	20.8	0.96721356231228084	0.30851	0.93408	0.58137	D	AEFBI	0.135822	0.25629	N	0.00294503760619186	0.41990	2.521621	0.0258237115526748	0.40916	2.449694	0.998509834216329	0.37090	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	2.65	0.30588	3.666000	0.54277	3.057000	0.36144	-0.042000	0.17409	0.997000	0.40164	0.975000	0.29991	0.425000	0.27339	0.7241:0.1411:0.0:0.1348	8.033	0.29634	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013614	0.005263	0.008621	0.008850	0.000000	0.045455	0.023256	0.048780	0.08333	900.83	36	chr21	32363296	.	A	T	900.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.463;SOR=0.701	GT:AD:DP:GQ:PL	0/1:41,34:75:99:911,0,1126	5	0	1	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor 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	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.25	3014.03	105	chr21	33252732	.	C	G	3014.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.43;DP=378;ExcessHet=1.383;FS=3.376;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.731;SOR=0.518	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1068,0,1062	3	0	3	0
chr21	40353600	40353600	G	A	exonic	DSCAM	.	nonsynonymous SNV	DSCAM:NM_001271534:exon5:c.C799T:p.L267F,DSCAM:NM_001389:exon5:c.C799T:p.L267F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0161292728768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.091	0.40110	T	0.005	0.12996	B	0.018	0.18489	B	0.004079	0.34148	N	0.290468	0.998	0.44028	D	1.25	0.31749	L	-0.25	0.67011	T	-1.81	0.42575	N	0.159	0.16586	-0.8167	0.54140	T	0.210	0.56933	T	10	0.22403213	0.39196	T	0.016129	0.37232	T	0.065	0.18881	0.391	0.41443	0.556470843481	0.55307	0.3603589838772309	0.35949	0.851204937113	0.68538	0.414253592491	0.27045	T	0.140729	0.47542	T	-0.175297	0.24439	T	-0.489579	0.23436	T	0.523045599460602	0.33478	D	0.905509	0.67676	D	0.14469577	0.33202	0.16181885	0.37619	0.14469577	0.33202	0.16181885	0.37618	-4.825	0.34881	T	.	.	0.253	0.48817	B	.;.;.	.;.;.	3.567299	0.50221	22.9	0.99832717748074018	0.91456	0.93626	0.58734	D	AEFI	0.587096	0.58488	D	-0.284820550779313	0.29733	1.651549	-0.125537935135108	0.34363	1.975861	0.92752539646963	0.26892	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	3.37	0.37692	3.113000	0.50069	6.352000	0.55493	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.1249:0.7455:0.1295	12.75	0.56679	970	0.06235	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set 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	.	.	.	.	.	.	.	.	0.08333	1004.83	38	chr21	40353600	.	G	A	1004.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=306;ExcessHet=0;FS=3.521;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.111;SOR=1.094	GT:AD:DP:GQ:PL	0/1:73,45:118:99:1015,0,1799	5	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2818.02	35	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	2818.02	.	AC=5;AF=0.417;AN=12;DP=1123;ExcessHet=0.095;FS=2.852;MLEAC=5;MLEAF=0.417;MQ=59.79;QD=3.11;SOR=0.494	GT:AD:DP:GQ:PL	0/1:127,107:234:99:3986,0,4847	2	1	3	0
chr21	45176258	45176258	C	T	exonic	ADARB1	.	nonsynonymous SNV	ADARB1:NM_001346687:exon3:c.C704T:p.A235V,ADARB1:NM_001112:exon4:c.C557T:p.A186V,ADARB1:NM_001160230:exon4:c.C557T:p.A186V,ADARB1:NM_001346688:exon4:c.C557T:p.A186V,ADARB1:NM_015833:exon4:c.C557T:p.A186V,ADARB1:NM_015834:exon4:c.C557T:p.A186V	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647080124803	.	.	0.0001	0	8.648e-05	0.0009	0	1.5e-05	0	0.0002	8.41e-05	13	154602	rs755455385	7.456e-05	7.456e-05	5.445e-05	9.488e-05	0.0017	6.315e-05	5.873e-05	0.0013	0.0012	0	2.236e-05	0	0.0017	3.744e-05	0.0002	1.619e-05	0.0001	0.0001	5.252e-05	5.249e-05	2.57e-05	8.054e-05	0.0013	2.555e-05	1.829e-05	0.0006	0.0004	0	0	0	0	0.0013	0	0	0	0	0.0002	0.348	0.12961	T	0.381	0.16328	T	0.001	0.11197	B	0.002	0.08700	B	0.695396	0.10139	N	0.879247	1	0.28825	N	0.55	0.14455	N	1.56	0.29602	T	-0.89	0.24026	N	0.033	0.02179	-0.9962	0.30974	T	0.033	0.14377	T	10	0.016485006	0.00348	T	0.006471	0.17043	T	0.058	0.16647	0.351	0.34922	0.240615537116	0.23683	0.1523596405903224	0.15157	.	.	0.299663990736	0.10351	T	0.200229	0.55774	T	-0.612618	0.00122	T	-0.71888	0.04850	T	0.0127105239261825	0.00214	T	0.657934	0.26722	T	0.016452095	0.00199	0.03048786	0.01510	0.016452095	0.00198	0.03048786	0.01510	-3.84	0.21854	T	0.11547110348040955	0.10335	0.071	0.03736	B	.;.;.;.;.	.;.;.;.;.	0.488913	0.08582	5.349	0.97743182493524738	0.35695	0.32422	0.24581	N	AEFDGBI	0.127450	0.24482	N	-0.968889037637014	0.09273	0.4382069	-0.912272316893221	0.11804	0.6035971	0.999986729963791	0.51787	0.706548	0.73137	0	0.546412	0.12157	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.21	2.16	0.26663	1.207000	0.31938	0.143000	0.15197	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.353000	0.25727	0.0:0.6718:0.0:0.3282	7.480	0.26569	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	2656.83	33	chr21	45176258	.	C	T	2656.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.703;DP=373;ExcessHet=0;FS=0.543;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.021;SOR=0.765	GT:AD:DP:GQ:PL	0/1:93,97:190:99:2667,0,2483	5	0	1	0
chr22	17148464	17148464	T	A	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_017829:exon3:c.A337T:p.M113L,HDHD5:NM_033070:exon3:c.A427T:p.M143L	.	.	.	.	.	.	.	.	.	.	.	3266578	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00474408858729	.	.	4.945e-05	0	8.64e-05	0	0	7.499e-05	0	0	3.88e-05	6	154602	rs759011167	6.088e-05	6.088e-05	7.487e-05	4.675e-05	0.0003	5.028e-05	4.672e-05	6.094e-05	5.366e-05	0	2.236e-05	0	0	0	0.0003	7.105e-05	9.935e-05	1.159e-05	5.914e-05	5.91e-05	8.994e-05	2.69e-05	0.0001	3.078e-05	2.21e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.715	0.03984	T	0.876	0.03259	T	0.0	0.02946	B	0.0	0.01387	B	0.013511	0.28818	N	0.353786	1	0.81001	D	.	.	.	2.18	0.18875	T	0.23	0.04613	N	0.14	0.15469	-0.9707	0.37052	T	0.011	0.04369	T	10	0.047970712	0.04185	T	0.004744	0.11816	T	0.014	0.01968	0.435	0.48664	0.0482279557977	0.04254	0.6596934463068606	0.65906	0.169480675496	0.19104	0.383811503649	0.22796	T	9.81E-4	0.00525	T	-0.436738	0.01352	T	-0.673438	0.07390	T	0.0150565688621154	0.00325	T	0.533147	0.17760	T	0.039301623	0.05401	0.038753387	0.03814	0.039301623	0.05401	0.038753387	0.03814	-1.234	0.01940	T	.	.	0.088	0.11510	B	.;.	.;.	1.075781	0.14584	11.15	0.47133583701802717	0.03830	0.84544	0.43627	D	AEFBI	0.401947	0.47623	N	-1.2576939924105	0.04199	0.1890668	-1.06688712054024	0.08359	0.4106377	0.115996972931822	0.16768	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.56	-0.062	0.13114	0.926000	0.28405	-0.245000	0.10556	-1.860000	0.00563	0.965000	0.33920	0.159000	0.23246	0.185000	0.21450	0.0:0.5395:0.2461:0.2144	6.220	0.19887	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	.	.	.	.	.	.	.	.	0.1667	2619.06	34	chr22	17148464	.	T	A	2619.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.528;DP=374;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.818;SOR=0.697	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1357,0,1629	4	0	2	0
chr22	17864926	17864926	C	T	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_001122731:exon18:c.G2578A:p.V860M,MICAL3:NM_015241:exon19:c.G2578A:p.V860M,MICAL3:NM_001136004:exon22:c.G2950A:p.V984M	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0423276315662	0.0008	0.000399361	0.0007	0.0001	0.0014	0.0001	0	0.0010	0	0	0.0006209	96	154602	rs199950640	0.0006	0.0006	0.0007	0.0006	0.0015	0.0006	0.0006	0.0013	0.0011	0.0001	0.0015	0	5.038e-05	0.0004	0.0002	0.0007	0.0008	2.319e-05	0.0007	0.0006	0.0006	0.0007	0.0020	0.0005	0.0005	0.0015	0.0013	0.0003	0	0.0020	0	0.0002	9.429e-05	0	0.0008	0.0005	0	0.066	0.36113	T	0.229	0.35330	T	0.025	0.42183	B	0.005	0.35394	B	0.000764	0.00682	N	3.503140	1	0.08975	N	0.345	0.11182	N	-0.02	0.69287	T	-0.76	0.22078	N	0.098	0.16447	-0.7317	0.58877	T	0.247	0.61658	T	10	0.009722859	0.00219	T	0.042328	0.60404	D	0.075	0.21907	.	.	0.389052329274	0.38518	0.2608422865943414	0.25997	0.140375500075	0.15827	0.248956263065	0.03658	T	0.00924	0.08422	T	-0.447734	0.01164	T	-0.440543	0.28747	T	0.0331172877985968	0.02490	T	0.717928	0.33070	T	0.016754646	0.00219	0.034113746	0.02420	0.016754646	0.00219	0.034113746	0.02420	-5.063	0.41369	T	.	.	0.081	0.12560	B	.;.;.;.;.	.;.;.;.;.	-0.387480	0.02261	0.233	0.95773148469574887	0.27783	0.01737	0.05485	N	AEFDBI	0.057959	0.10837	N	-0.973069359671175	0.09182	0.4335058	-1.12010815747507	0.07316	0.3554145	0.998865100865553	0.37845	0.732398	0.92422	0	0.577304	0.33150	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.72	-5.71	0.02218	-1.960000	0.01608	-2.840000	0.03308	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3671:0.1925:0.4404	7.735	0.27972	976	0.04745	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1020.83	35	chr22	17864926	.	C	T	1020.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.857;DP=236;ExcessHet=0;FS=2.301;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.48;SOR=0.376	GT:AD:DP:GQ:PL	0/1:28,38:66:99:1031,0,672	5	0	1	0
chr22	21629957	21629957	G	C	exonic	YDJC	.	nonsynonymous SNV	YDJC:NM_001017964:exon1:c.C58G:p.R20G,YDJC:NM_001371350:exon1:c.C58G:p.R20G	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0415179828463	0.0002	0.000199681	0.0004	0.0001	0.0006	0	0	0.0005	0	0.0003	0.0003105	48	154602	rs142465613	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0003	0.0004	0.0004	6.173e-05	0.0002	0	0	0.0002	0.0010	0.0004	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	7.216e-05	0	6.534e-05	0	0	0.0002	0	0.0004	0	0	0.032	0.44694	D	0.366	0.16668	T	0.753	0.43334	P	0.615	0.51231	P	0.023025	0.26520	N	0.327772	0.597908	0.32513	D	0.595	0.15482	N	1.24	0.36691	T	-2.52	0.54702	D	0.714	0.71942	-0.9993	0.30115	T	0.071	0.28936	T	10	0.1723808	0.32009	T	0.041518	0.59970	D	0.091	0.26358	.	.	0.104622674875	0.10061	0.8751734633928584	0.87484	1.46342036736	0.86395	0.837720036507	0.87746	D	0.007631	0.07024	T	-0.29745	0.08902	T	-0.339102	0.40445	T	0.0692916102731118	0.08552	T	0.90371	0.66210	D	0.63512576	0.74571	0.60444933	0.77009	0.63512576	0.74572	0.60444933	0.77010	-8.953	0.67394	D	.	.	0.224	0.45593	B	.;.	.;.	3.959629	0.58061	23.9	0.88405240804585583	0.17951	0.56824	0.30217	D	ALL	0.395135	0.47211	N	0.0181633586523325	0.42682	2.576254	0.118980662227392	0.45521	2.813722	0.999999999998032	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	4.44	0.53164	1.689000	0.37319	.	.	0.610000	0.48991	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.016	0.71249	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	.	.	.	.	.	.	.	.	0.1667	990.06	35	chr22	21629957	.	G	C	990.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.62;DP=245;ExcessHet=0.4139;FS=2.615;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.35;SOR=0.976	GT:AD:DP:GQ:PL	0/1:33,27:60:99:683,0,757	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1755.92	87	chr22	23311788	.	T	TCCGG	1755.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.75;DP=317;ExcessHet=3.1439;FS=24.364;MLEAC=4;MLEAF=0.333;MQ=54.19;MQRankSum=-4.822;QD=8.02;ReadPosRankSum=0.251;SOR=2.113	GT:AD:DP:GQ:PL	0/1:36,26:62:99:983,0,1425	2	0	4	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	.	.	.	.	.	.	.	.	0.25	350.39	69	chr22	23311830	.	G	A	350.39	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.79;DP=265;ExcessHet=1.383;FS=32.833;MLEAC=3;MLEAF=0.25;MQ=56.47;MQRankSum=-5.318;QD=3.47;ReadPosRankSum=-2.107;SOR=5.084	GT:AD:DP:GQ:PL	0/1:32,10:42:99:249,0,893	3	0	3	0
chr22	29441706	29441706	C	A	exonic	RFPL1	.	nonsynonymous SNV	RFPL1:NM_021026:exon2:c.C538A:p.H180N	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.00374394104514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	4.365	0.98522	H	-0.41	0.69413	T	-6.89	0.93257	D	0.328	0.36884	-0.3876	0.72417	T	0.606	0.86004	D	9	0.55853474	0.64656	D	0.003744	0.08682	T	0.193	0.47281	0.717	0.85230	0.826106357596	0.82445	0.36897258691058216	0.36811	0.78101997187	0.65293	0.498826384544	0.38664	T	0.343092	0.71178	T	-0.0100579	0.50256	T	-0.252224	0.49596	T	0.91174635132139	0.56741	D	0.859414	0.55137	D	0.7971535	0.83724	0.6523276	0.79654	0.7971535	0.83726	0.6523276	0.79654	-9.359	0.69978	D	.	.	0.292	0.52376	B	.	.	2.269362	0.29007	17.98	0.97213652359348823	0.32869	0.02608	0.07182	N	AEFGBI	0.050186	0.08747	N	-0.0205192566999614	0.40927	2.439075	-0.40682208456624	0.24796	1.359899	2.80659648628899E-4	0.06300	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.530356	0.10902	0	.	.	0.951	0.951	0.18703	0.118000	0.15436	-0.783000	0.07446	0.405000	0.20585	0.000000	0.06391	0.000000	0.08366	0.182000	0.21359	0.0:1.0:0.0:0.0	7.709	0.27830	526	0.73951	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain|Ret finger protein-like, SPRY/PRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	5021.83	212	chr22	29441706	.	C	A	5021.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.881;DP=708;ExcessHet=0;FS=2.344;MLEAC=1;MLEAF=0.083;MQ=59.27;MQRankSum=-0.741;QD=14.95;ReadPosRankSum=-1.09;SOR=0.845	GT:AD:DP:GQ:PL	0/1:157,179:336:99:5032,0,4297	5	0	1	0
chr22	30244859	30244859	C	T	exonic	LIF	.	nonsynonymous SNV	LIF:NM_002309:exon2:c.G94A:p.A32T	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0328600541104	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868113406	1.026e-05	1.026e-05	9.529e-06	1.1e-05	6.956e-05	6.16e-06	4.89e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	7.194e-06	1.656e-05	6.956e-05	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	0.016	0.51853	D	0.051	0.47828	T	0.999	0.77913	D	0.971	0.72444	D	0.394256	0.13213	N	0.676152	0.999981	0.54805	D	0.805	0.20218	L	-1.1	0.77336	T	-1.37	0.33998	N	0.24	0.27077	-0.3891	0.72371	T	0.363	0.72407	T	10	0.29394996	0.46968	T	0.03286	0.54569	D	0.342	0.66392	0.588	0.71623	0.747388757764	0.74511	0.3248125975660578	0.32394	0.335954471646	0.35598	0.537433385849	0.44083	T	0.458941	0.79672	T	-0.305619	0.08140	T	-0.474123	0.25072	T	0.589211642742157	0.35975	D	0.670833	0.27951	T	0.2109039	0.43400	0.1659946	0.38371	0.2109039	0.43400	0.1659946	0.38371	-3.331	0.14139	T	.	.	0.112	0.21913	B	.	.	3.942338	0.57693	23.9	0.99906975889638261	0.97726	0.32848	0.24685	N	AEFDBCIJ	0.077441	0.15603	N	0.265366969166108	0.54402	3.605931	0.234991422144306	0.51799	3.359461	0.999995248497518	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.584781	0.30282	0	0.620976	0.48614	0	.	.	4.41	2.17	0.26736	0.921000	0.28338	2.322000	0.32141	-0.182000	0.10109	0.728000	0.28902	0.984000	0.30665	0.968000	0.53726	0.1953:0.5062:0.189:0.1095	2.364	0.04051	350	0.85473	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	954.83	36	chr22	30244859	.	C	T	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.954;DP=266;ExcessHet=0;FS=0.778;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.317;SOR=0.804	GT:AD:DP:GQ:PL	0/1:49,43:92:99:965,0,1176	5	0	1	0
chr22	31125364	31125364	G	C	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.G625C:p.V209L,INPP5J:NM_001284286:exon3:c.G424C:p.V142L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.114375843303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.007	0.91255	D	0.273	0.22154	T	0.003	0.11197	B	0.003	0.08700	B	0.452495	0.12490	N	0.707125	1	0.08975	N	0.695	0.17993	N	-4.49	0.97650	D	-0.31	0.58248	N	0.073	0.05162	-0.0600	0.80993	T	0.716	0.90254	D	9	0.057014585	0.06483	T	0.114376	0.79320	D	0.163	0.42028	0.206	0.12216	0.578877614382	0.57557	0.0997879866618167	0.09909	.	.	0.304608523846	0.11092	T	0.086508	0.37740	T	0.015912	0.53829	T	-0.21492	0.53223	T	0.0520812674995396	0.05861	T	0.723828	0.33737	T	0.065686174	0.14063	0.046407927	0.06463	0.065686174	0.14063	0.046407927	0.06463	-3.59	0.17713	T	.	.	0.117	0.23675	B	.;.;.	.;.;.	1.145700	0.15336	11.77	0.96326702903690908	0.29433	0.03114	0.08053	N	AEFDBI	0.076279	0.15341	N	-0.903225877456388	0.10766	0.5161091	-0.94399634508831	0.11063	0.5612893	0.999278723812289	0.38974	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.78	-2.81	0.05459	-0.183000	0.09707	-0.025000	0.12872	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.795000	0.37519	0.3688:0.1305:0.2884:0.2123	0.651	0.00773	624	0.65661	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1225.83	35	chr22	31125364	.	G	C	1225.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.764;DP=266;ExcessHet=0;FS=0.838;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.888;SOR=0.869	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1236,0,992	5	0	1	0
chr22	36875833	36875833	C	T	exonic	NCF4	.	stopgain	NCF4:NM_013416:exon8:c.C808T:p.R270X	.	.	.	.	.	.	.	.	.	.	YES	649486	Chronic_granulomatous_disease|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_3	MONDO:MONDO:0018305,MedGen:C0018203,OMIM:PS306400,Orphanet:379|MONDO:MONDO:0013507,MedGen:C3151409,OMIM:613960,Orphanet:379	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.100	.	0.0002	.	0.0002	0	0	0	0	0.0004	0	0.0001	0.000194	30	154602	rs201021542	9.782e-05	9.85e-05	9.257e-05	0.0001	0.0001	8.444e-05	7.921e-05	8.851e-05	8.237e-05	5.974e-05	0	0.0005	0	1.872e-05	0	0.0001	6.623e-05	9.275e-05	0.0001	0.0001	0.0001	6.726e-05	0.0002	6.512e-05	5.323e-05	0.0001	7.894e-05	4.824e-05	0	0	0.0006	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.185165	0.16996	N	0.526148	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11826	0.66197	D	0.305546	0.88452	D	0.376331925392151	0.28041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.233148	0.06140	2.588	0.9941647651264196	0.63549	0.13428	0.17850	N	AEFDGBI	0.058891	0.11083	N	0.372349394227522	0.59930	4.176583	0.022198391019518	0.40748	2.436797	0.999243833860815	0.38873	0.562547	0.31514	0	0.653731	0.59785	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	3.96	3.96	0.45097	-0.094000	0.11060	-0.871000	0.07103	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	11.898	0.51950	753	0.51500	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2116.83	133	chr22	36875833	.	C	T	2116.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.12;DP=573;ExcessHet=0;FS=1.091;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.172;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,88:203:99:0|1:36875833_C_T:2127,0,2806:36875833	5	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	0.08333	133.79	14	chr22	38628887	.	GAGA	G	133.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.17;DP=118;ExcessHet=0;FS=10.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.876;SOR=3.236	GT:AD:DP:GQ:PL	0/1:8,4:12:99:144,0,324	5	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.1667	409.06	131	chr22	42128812	.	A	G	409.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.19;DP=681;ExcessHet=0.4139;FS=11.141;MLEAC=2;MLEAF=0.167;MQ=51.95;MQRankSum=-4.977;QD=1.56;ReadPosRankSum=-2.105;SOR=1.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,9:114:62:0|1:42128812_A_G:62,0,4363:42128812	4	0	2	0
chr22	42212268	42212268	G	A	exonic	TCF20	.	nonsynonymous SNV	TCF20:NM_001378418:exon2:c.C3038T:p.A1013V,TCF20:NM_005650:exon2:c.C3038T:p.A1013V,TCF20:NM_181492:exon2:c.C3038T:p.A1013V	.	423	1095	4	0	0	4	0.00182315	.	.	.	2819628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.100	0.00677141248355	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867676368	6.156e-06	6.156e-06	4.084e-06	8.25e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	8.279e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.054	0.47097	T	0.03	0.22331	B	0.017	0.28123	B	0.053921	0.22768	N	0.412628	0.940207	0.26814	N	0.345	0.11182	N	0.12	0.61089	T	-0.5	0.18042	N	0.196	0.25745	-0.9634	0.38527	T	0.133	0.44603	T	10	0.08122745	0.13272	T	0.006771	0.17897	T	0.100	0.28662	0.135	0.03920	0.134007934775	0.12933	0.301574982194741	0.30070	0.118273141635	0.13311	0.435472160578	0.29957	T	0.047325	0.27688	T	-0.0740137	0.40685	T	-0.344092	0.39880	T	0.390450847190018	0.28581	T	.	.	.	0.09674935	0.22795	0.13630255	0.32611	0.09674935	0.22794	0.13630255	0.32611	-4.23	0.27484	T	.	.	0.198	0.42007	B	.;.	.;.	3.845841	0.55678	23.6	0.99727594402725639	0.82549	0.94720	0.62098	D	AEFDBI	.	.	.	0.0328358476349762	0.43352	2.629938	0.2623274973847	0.53355	3.504746	0.999153011882331	0.38592	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	4.541000	0.60381	9.970000	0.82855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1356:0.8644:0.0	15.764	0.77876	131	0.94738	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1523.83	66	chr22	42212268	.	G	A	1523.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.839;DP=377;ExcessHet=0;FS=3.187;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.15;SOR=0.979	GT:AD:DP:GQ:PL	0/1:74,59:133:99:1534,0,2136	5	0	1	0
chr22	43161083	43161083	G	A	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon3:c.G214A:p.G72R,TSPO:NM_001256530:exon3:c.G214A:p.G72R,TSPO:NM_001256531:exon3:c.G214A:p.G72R	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.0985566207383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285443074	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	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	.	.	.	0.99	0.41750	T	-7.24	0.94326	D	0.878	0.87699	-0.3994	0.72046	T	0.300	0.67083	T	10	0.8716206	0.86431	D	0.098557	0.76961	D	0.668	0.87674	0.654	0.79172	0.68085904921	0.67814	0.6904969781805946	0.68989	0.894770431593	0.70409	0.736817002296	0.72504	T	0.068227	0.33403	T	0.282487	0.81528	D	0.167997	0.81291	D	0.997266888618469	0.91148	D	0.965003	0.87031	D	0.89641225	0.91064	0.8703052	0.92887	0.89641225	0.91065	0.8703052	0.92887	-7.995	0.61037	D	.	.	0.258	0.51014	B	.;.;.;.	.;.;.;.	5.332466	0.89486	30	0.99931637816637087	0.99387	0.96514	0.69520	D	AEFBCI	0.951527	0.96616	D	0.899418262402758	0.91729	11.03448	0.851824058861477	0.93121	11.83832	0.999999999999718	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	9.388000	0.96608	9.747000	0.81457	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.739	0.91732	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	483.83	41	chr22	43161083	.	G	A	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.463;DP=226;ExcessHet=0;FS=7.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.241;SOR=1.569	GT:AD:DP:GQ:PL	0/1:34,19:53:99:494,0,1058	5	0	1	0
chrX	7843871	7843900	AGGTGGAGGAACCACTGAGTCAGGAGAGCC	-	exonic	VCX	.	nonframeshift deletion	VCX:NM_013452:exon3:c.476_505del:p.Q169_S178del	.	474	1014	15	1	18	35	0.00831296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0009	0.0004	0.0003	0.0013	0.0051	0	0.0093	0.0002305	6	26028	rs754199183	0.0027	0.0031	0.0036	0.0009	0.0034	0.0026	0.0026	0.0030	0.0029	0.0004	0.0004	0.0045	0.0002	0.0008	0.0031	0.0030	0.0022	0.0034	0.0017	0.0016	0.0020	0	0.0037	0.0014	0.0013	0.0020	0.0018	0.0006	0	0.0008	0.0038	0	0.0004	0	0.0024	0.0013	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	2436.64	123	chrX	7843870	.	GAGGTGGAGGAACCACTGAGTCAGGAGAGCC	G	2436.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.36;DP=990;ExcessHet=0;FS=3.241;MLEAC=1;MLEAF=0.125;MQ=46.28;MQRankSum=-0.429;QD=15.72;ReadPosRankSum=1.11;SOR=0.304	GT:AD:DP:GQ:PL	0/1:77,78:155:99:2445,0,1833	3	0	1	2
chrX	8466193	8466193	T	C	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.T551C:p.L184P	.	612	876	27	1	6	35	0.016283	.	.	.	2707937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00146990707678	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173578499	9.742e-05	0.0002	0.0001	6.8e-05	0.0001	7.379e-05	6.57e-05	8.051e-05	7.113e-05	0	0	8.332e-05	0.0001	8.982e-05	0	0.0001	4.403e-05	6.577e-05	0.0002	0.0003	0.0002	0	0.0013	0.0001	8.105e-05	9.557e-05	6.727e-05	0	0	0	0	0.0013	0.0003	0	0.0002	0	0.0013	0.065	0.36310	T	0.292	0.29540	T	.	.	.	.	.	.	.	.	.	.	0.999554	0.26569	N	2.445	0.70938	M	1.46	0.32238	T	-3.08	0.63323	D	0.047	0.02179	-1.0585	0.12134	T	0.044	0.18865	T	9	0.1229727	0.23337	T	0.00147	0.02241	T	0.035	0.08770	.	.	0.0138822411134	0.00435	0.004273110680861151	0.00401	1.41972277544	0.85595	0.529610931873	0.42979	T	0.013835	0.11891	T	-0.441413	0.01269	T	-0.871836	0.00725	T	0.955567836761475	0.64539	D	0.427757	0.11540	T	0.37285802	0.58795	0.43918347	0.67279	0.37285802	0.58795	0.43918347	0.67279	-9.441	0.70492	D	.	.	0.376	0.58215	A	.;.	.;.	2.014648	0.25599	16.82	0.19176854040336633	0.00635	0.00189	0.01098	N	AEFI	.	.	.	.	.	.	.	.	.	2.97748127792087E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	-1.66	0.07824	-1.564000	0.02256	-1.285000	0.05816	.	.	0.000000	0.06391	0.001000	0.17328	.	.	0.5043:0.2169:0.0:0.2787	2.115	0.03487	1000	0.00083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011403	0.013333	0.011364	0.015748	0.000000	0.000000	0.023810	0.000000	0.08333	768.85	69	chrX	8466193	.	T	C	768.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.781;DP=283;ExcessHet=0;FS=1.882;MLEAC=1;MLEAF=0.083;MQ=39.83;MQRankSum=-0.474;QD=28.48;ReadPosRankSum=-2.891;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,21:27:83:0|1:8466150_G_A:779,0,83:8466150	5	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	52.83	112	chrX	10469688	.	G	A	52.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.42;DP=343;ExcessHet=0;FS=69.934;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=1.76;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10:72:63:0|1:10469688_G_A:63,0,2376:10469688	5	0	1	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	.	.	.	.	.	.	.	.	0.2	170.77	114	chrX	10469690	.	T	C	170.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.686;DP=529;ExcessHet=0.4139;FS=178.002;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.27;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10:72:63:0|1:10469688_G_A:63,0,2376:10469688	3	0	2	1
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	195.06	117	chrX	10469693	.	T	C	195.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.927;DP=342;ExcessHet=0.4139;FS=85.852;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.607;SOR=5.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10:72:63:0|1:10469688_G_A:63,0,2376:10469688	4	0	2	0
chrX	16171263	16171263	A	G	exonic	MAGEB17	.	nonsynonymous SNV	MAGEB17:NM_001277307:exon2:c.A881G:p.N294S	.	433	1078	10	1	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00247560068479	.	0.000264901	0.0002	0	0	0	0	5.394e-05	0	0.0014	0.0001358	21	154602	rs759076744	8.943e-05	9.014e-05	6.4e-05	0.0001	0.0017	7.507e-05	6.897e-05	0.0009	0.0008	0	0	5.19e-05	0	0	0.0017	3.329e-05	6.517e-05	0.0011	4.471e-05	6.088e-05	2.57e-05	8.821e-05	0.0019	1.707e-05	1.049e-05	0.0008	0.0005	0	0	0	0	0	0	0	0	0	0.0019	0.104	0.29959	T	0.155	0.31936	T	.	.	.	.	.	.	0.984529	0.08072	N	0.992215	1	0.08975	N	0.715	0.18665	N	4.67	0.01735	T	-3.99	0.73893	D	0.019	0.00279	-0.9676	0.37693	T	0.006	0.01981	T	8	0.0134242475	0.00285	T	0.002476	0.04896	T	0.018	0.03083	0.407	0.44066	0.176091768786	0.17195	0.44405730700315216	0.44323	0.160309896922	0.18085	0.473092854023	0.35106	T	0.105006	0.41509	T	-0.895909	0.00000	T	-1.10524	0.00025	T	0.251658499240875	0.22947	T	0.279972	0.04873	T	0.07414296	0.16617	0.13026424	0.31305	0.07414296	0.16617	0.13026424	0.31304	-4.762	0.34145	T	.	.	0.132	0.28406	B	.;.	.;.	0.218092	0.06006	2.449	0.56793557847941412	0.05629	0.00399	0.01994	N	AEFBI	.	.	.	.	.	.	.	.	.	0.941644722289633	0.27486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.66	-5.32	0.02511	-0.053000	0.11802	-2.622000	0.03538	-0.089000	0.16174	0.001000	0.13787	0.000000	0.08366	0.687000	0.33748	0.2203:0.4936:0.1227:0.1635	2.597	0.04562	428	0.80967	MAGE homology domain;MAGE homology 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	1	0	0	0	.	.	.	.	.	.	.	.	0.25	4836.0	39	chrX	16171263	.	A	G	4836.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.1;DP=410;ExcessHet=0;FS=0.971;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=-1.508;SOR=0.792	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2947,261,0	4	1	1	0
chrX	24364256	24364256	-	TGCTGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1574_1575insTGCTGCTGCTGCTGCTGC:p.A543_P544insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0007	0.0003	0.0014	0.0005	0.0005	0.0011	0.0010	0.0003	0.0005	0	0.0012	0.0002	0.0009	0.0005	0.0006	0.0014	0.0005	0.0006	0.0005	0.0006	0.0007	0.0004	0.0003	0.0005	0.0004	0.0001	0	0.0005	0.0005	0.0004	0	0.0055	0.0007	0.0009	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5460.12	38	chrX	24364256	.	T	TTGCTGCTGCTGCTGCTGC	5460.12	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.116;DP=628;ExcessHet=0.095;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.88;MQRankSum=1.52;QD=27.44;ReadPosRankSum=0.305;SOR=0.737	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1795,117,0	4	1	1	0
chrX	30218702	30218702	G	A	exonic	MAGEB2	.	nonsynonymous SNV	MAGEB2:NM_002364:exon2:c.G122A:p.C41Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	9.5e-05	0.00291391	0.0012	0.0002	0	0.0136	0	3.309e-05	0.0074	0.0001	0.0008603	133	154602	rs74852235	0.0005	0.0005	0.0005	0.0005	0.0126	0.0004	0.0004	0.0115	0.0111	0.0002	5.798e-05	0.0002	0.0126	0	0.0002	3.461e-05	0.0016	0.0006	0.0007	0.0007	0.0008	0.0004	0.0101	0.0005	0.0005	0.0075	0.0066	0.0004	0	0.0019	0.0008	0.0101	0	0.0046	5.64e-05	0.0013	0	0.071	0.35165	T	0.036	0.52060	D	0.988	0.62325	D	0.673	0.53214	P	0.604470	0.05665	N	1.289800	1	0.08975	N	1.39	0.34934	L	3.7	0.04079	T	-2.53	0.54864	D	0.035	0.01004	-0.9858	0.33639	T	0.013	0.05225	T	10	0.0037859082	0.00071	T	.	.	.	0.062	0.17934	.	.	0.134241683229	0.13084	0.11963072530413536	0.11890	0.00421502833054	0.00371	0.324429035187	0.14092	T	0.017351	0.14172	T	-0.859706	0.00002	T	-0.99829	0.00142	T	0.0486824442647654	0.05266	T	0.125887	0.00981	T	0.1450718	0.33272	0.22925484	0.47991	0.1450718	0.33271	0.22925484	0.47990	-6.248	0.48309	T	.	.	0.099	0.16843	B	.	.	0.820169	0.11915	8.477	0.59001621640161173	0.06122	0.03255	0.08284	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999586821012664	0.40607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.04	0.196	0.14439	-0.287000	0.08423	-3.558000	0.02697	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4061:0.4527:0.1411	4.878	0.13025	799	0.44747	Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-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	1	0	0	0	0.000689	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.25	1190.01	36	chrX	30218702	.	G	A	1190.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.606;DP=185;ExcessHet=0;FS=5.117;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=-1.264;SOR=0.873	GT:AD:DP:GQ:PL	1/1:0,21:21:63:715,63,0	4	1	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	84.77	54	chrX	49039321	.	G	A	84.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.253;DP=284;ExcessHet=0.4139;FS=105.649;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=-0.061;SOR=7.111	GT:AD:DP:GQ:PL	0/1:31,14:45:54:54,0,491	3	0	2	1
chrX	53549497	53549497	C	A	exonic	HUWE1	.	nonsynonymous SNV	HUWE1:NM_031407:exon67:c.G9497T:p.G3166V	Mental retardation, X-linked syndromic, Turner type	0	1510	8	4	0	16	0.00527009	.	.	.	2736828	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.550040616353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	8.71e-06	1.285e-05	0	3.269e-05	0	0	.	.	3.269e-05	0	0	0	0	0	0	0	0	0	0.067	0.35918	T	0.074	0.42976	T	0.964	0.55854	D	0.567	0.49782	P	0.001116	0.40219	N	0.248342	1	0.81001	D	0.345	0.11182	N	1.05	0.39990	T	-1.18	0.30140	N	0.238	0.35301	-0.8069	0.54736	T	0.227	0.59133	T	10	0.32468826	0.49789	T	0.550041	0.95848	D	0.136	0.36778	0.213	0.13210	0.644899875743	0.64196	0.8819716309529118	0.88165	2.26071074236	0.96182	0.637410759926	0.58195	T	0.199083	0.55625	T	-0.016934	0.49288	T	-0.262101	0.48614	T	0.696929395198822	0.40573	D	0.967603	0.88252	D	0.4019725	0.60869	0.36930722	0.62204	0.4019725	0.60869	0.36930722	0.62204	-4.3	0.28177	T	0.0959243355031814	0.06582	0.132	0.28348	B	.;.;.	.;.;.	4.390462	0.67755	25.1	0.99161652934961242	0.54127	0.99027	0.90159	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999999989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	5.62	0.85714	5.286000	0.65444	7.582000	0.60992	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.349	0.87207	2	0.99499	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1072.04	35	chrX	53549497	.	C	A	1072.04	.	AC=2;AF=0.167;AN=12;DP=199;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.49;SOR=2.235	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1092,99,0	5	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	0.5	65345.6	579	chrX	55146104	.	G	A	65345.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=2997;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=0.944;SOR=0.738	GT:AD:DP:GQ:PL	0/1:63,396:459:99:12542,0,519	0	0	6	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3	13620.6	581	chrX	55146139	.	G	A	13620.6	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.573;DP=2951;ExcessHet=1.383;FS=1.119;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=0.753;SOR=0.666	GT:AD:DP:GQ:PL	0/1:369,108:477:99:1971,0,10783	2	0	3	1
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.25	12864.0	505	chrX	55146173	.	G	A	12864.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.369;DP=2600;ExcessHet=1.383;FS=0.534;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.439;SOR=0.623	GT:AD:DP:GQ:PL	0/1:341,99:440:99:1911,0,10391	3	0	3	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.25	11401.0	500	chrX	55146197	.	G	A	11401.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.09;DP=2440;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.782;SOR=0.686	GT:AD:DP:GQ:PL	0/1:308,83:391:99:1710,0,9889	3	0	3	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	53661.6	433	chrX	55146212	.	C	T	53661.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.92;DP=2327;ExcessHet=11.5949;FS=3.075;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=1.95;SOR=0.466	GT:AD:DP:GQ:PL	0/1:58,300:358:99:9857,0,734	0	0	6	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.25	9842.03	287	chrX	55146247	.	G	C	9842.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.304;DP=1610;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.989;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,49:258:99:0|1:55146247_G_C:1376,0,8462:55146247	3	0	3	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	9457.99	287	chrX	55146252	.	A	AT	9457.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.01;DP=1561;ExcessHet=1.383;FS=1.167;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.072;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,47:244:99:0|1:55146247_G_C:1349,0,8105:55146247	3	0	3	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24838.6	282	chrX	55146254	.	T	C	24838.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.631;DP=1584;ExcessHet=11.5949;FS=4.096;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.626;SOR=0.461	GT:AD:DP:GQ:PL	0/1:96,139:235:99:4423,0,3048	0	0	6	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	8785.99	213	chrX	55146255	.	TG	T	8785.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.956;DP=1346;ExcessHet=1.383;FS=2.594;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.311;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,42:232:99:0|1:55146247_G_C:1192,0,7841:55146247	3	0	3	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	25538.6	211	chrX	55146275	.	T	G	25538.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.452;DP=1243;ExcessHet=11.5949;FS=13.632;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=22.82;ReadPosRankSum=-3.49;SOR=0.389	GT:AD:DP:GQ:PL	0/1:48,133:181:99:4371,0,1001	0	0	6	0
chrX	57908052	57908052	A	G	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.T2369C:p.I790T	.	433	1078	6	5	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00163485047574	.	.	1.178e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs763181335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.699e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.005479	0.32770	N	0.329841	1	0.08975	N	0.51	0.13489	N	2.87	0.10386	T	0.59	0.02558	N	0.058	0.02964	-0.9846	0.33927	T	0.016	0.06711	T	9	0.05132097	0.04996	T	0.001635	0.02651	T	0.028	0.06331	0.326	0.30873	0.502878934189	0.49925	0.14291496939814494	0.14214	0.80095384409	0.66250	0.658231377602	0.61156	T	0.007821	0.07202	T	-0.704886	0.00034	T	-1.06056	0.00056	T	0.039420053671842	0.03586	T	0.647735	0.25884	T	0.08784591	0.20471	0.07450294	0.16304	0.08784591	0.20471	0.07450294	0.16304	-3.495	0.16361	T	.	.	0.298	0.52857	B	.	.	0.419131	0.07896	4.602	0.097149860013812456	0.00105	0.18688	0.20362	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999872060941477	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.05	-0.779	0.10419	0.312000	0.19147	0.706000	0.20886	0.728000	0.85494	0.934000	0.32416	0.003000	0.18671	0.937000	0.47636	0.3485:0.2142:0.4374:0.0	4.158	0.09736	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3508.04	33	chrX	57908052	.	A	G	3508.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.92;QD=33.73;SOR=1.702	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3528,312,0	5	1	0	0
chrX	70282854	70282854	T	C	exonic	RAB41	.	nonsynonymous SNV	RAB41:NM_001032726:exon3:c.T233C:p.I78T,RAB41:NM_001363807:exon3:c.T236C:p.I79T	.	.	.	.	.	.	.	.	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0585393714399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.011	0.15914	B	0.001	0.04355	B	0.001094	0.40303	U	0.096298	0.999993	0.08975	N	-1.265	0.00749	N	-1.21	0.78645	T	5.63	0.00016	N	0.085	0.06190	-0.8330	0.53107	T	0.065	0.27017	T	10	0.03431824	0.01635	T	0.058539	0.67355	D	0.159	0.41286	0.347	0.34274	0.967566255448	0.96721	0.08383011192573513	0.08317	0.191132087596	0.21440	0.3105006814	0.11983	T	0.165114	0.51083	T	-0.210138	0.19360	T	-0.539625	0.18333	T	0.13814289867878	0.16113	T	0.959804	0.84855	D	0.036740117	0.04578	0.055888195	0.09886	0.036740117	0.04578	0.055888195	0.09885	-0.924	0.00919	T	.	.	0.058	0.32969	B	.;.;.	.;.;.	-0.764223	0.01180	0.057	0.86887734625357249	0.16841	0.24003	0.22257	N	AEBI	.	.	.	.	.	.	.	.	.	0.999995655693473	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.22	-8.44	0.00829	0.596000	0.23744	.	.	0.587000	0.30956	0.998000	0.41325	0.000000	0.08366	0.908000	0.44358	0.113:0.4165:0.3363:0.1342	4.436	0.10976	43	0.97828	.;Small GTP-binding protein 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	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	857.04	41	chrX	70282854	.	T	C	857.04	.	AC=2;AF=0.167;AN=12;DP=233;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.96;SOR=1.697	GT:AD:DP:GQ:PL	1/1:0,26:26:78:877,78,0	5	1	0	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	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	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.1667	104.06	113	chrX	74591813	.	G	A	104.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.512;DP=372;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.53;MQRankSum=-4.285;QD=1.06;ReadPosRankSum=-2.139;SOR=0.755	GT:AD:DP:GQ:PL	0/1:46,8:54:53:53,0,1627	4	0	2	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	0.4167	1794.52	292	chrX	74591904	.	A	G	1794.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.819;DP=1024;ExcessHet=6.1542;FS=1.974;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-12.53;QD=1.82;ReadPosRankSum=3.49;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,28:135:99:0|1:74591902_T_A:854,0,4409:74591902	1	0	5	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	0.1667	836.06	37	chrX	74591957	.	C	T	836.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.726;DP=418;ExcessHet=0.4139;FS=5.348;MLEAC=2;MLEAF=0.167;MQ=58.46;MQRankSum=-9.671;QD=3.09;ReadPosRankSum=-2.525;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,23:144:99:0|1:74591902_T_A:602,0,5012:74591902	4	0	2	0
chrX	85282243	85282244	TG	-	exonic	POF1B	.	frameshift deletion	POF1B:NM_001307940:exon16:c.1723_1724del:p.Q575Dfs*5,POF1B:NM_024921:exon16:c.1723_1724del:p.Q575Dfs*5	Premature ovarian failure 2B	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437760308	0	9.108e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.974e-06	8.716e-06	1.288e-05	0	1.889e-05	0	0	.	.	0	0	0	0	0	0	0	1.889e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1436.01	35	chrX	85282242	.	CTG	C	1436.01	.	AC=2;AF=0.167;AN=12;DP=192;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.85;SOR=0.752	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1456,99,0	5	1	0	0
chrX	115189569	115189569	G	A	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G128A:p.R43Q	.	426	1066	21	9	0	39	0.0179641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	.	.	0.0015894	0.0034	0	0	0	0	0.0010	0	0.0120	0.0011319	175	154602	rs201501183	0.0008	0.0008	0.0006	0.0012	0.0099	0.0007	0.0007	0.0092	0.0089	7.924e-05	0.0006	5.349e-05	0	2.622e-05	0.0071	0.0003	0.0015	0.0099	0.0008	0.0008	0.0007	0.0008	0.0088	0.0006	0.0006	0.0061	0.0052	0.0002	0	0.0025	0	0	0	0.0046	0.0005	0.0019	0.0088	0.018	0.50676	D	0.046	0.49120	D	0.984	0.60733	D	0.701	0.54186	P	.	.	.	.	1	0.81001	D	2.12	0.58754	M	-2.01	0.85468	D	-2.98	0.62008	D	0.096	0.07673	-0.1661	0.78522	T	0.444	0.78081	T	9	0.009803534	0.00220	T	.	.	.	0.384	0.70112	.	.	0.148003135375	0.14442	0.5471793712768115	0.54643	.	.	0.336002320051	0.15839	T	0.008141	0.07488	T	-0.339229	0.05442	T	-0.25066	0.49752	T	0.0727188121991527	0.09028	T	0.89941	0.64770	D	0.15032348	0.34228	0.14667484	0.34741	0.15032348	0.34228	0.14667484	0.34740	-4.732	0.33789	T	.	.	0.218	0.44860	B	.	.	2.636768	0.34303	19.59	0.99569811882701675	0.72318	0.58149	0.30564	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.0192560202852358	0.13144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.69	0.17203	4.683000	0.61367	4.551000	0.43803	0.373000	0.20310	1.000000	0.71638	0.875000	0.27637	0.008000	0.08271	0.0:0.433:0.5669:1.0E-4	4.336	0.10524	937	0.14592	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	0	0	0	0	0	0	0	1	0	0	0	0.010497	0.006803	0.009381	0.000000	0.000000	0.025000	0.008969	0.026882	0.1667	3628.04	34	chrX	115189569	.	G	A	3628.04	.	AC=2;AF=0.167;AN=12;DP=299;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.55;SOR=0.746	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3648,345,0	5	1	0	0
chrX	120366598	120366598	C	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon2:c.C137T:p.T46M,ATP1B4:NM_012069:exon2:c.C137T:p.T46M	.	413	1089	12	8	0	28	0.0126927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0016	0.00344371	0.0031	0.0009	0.0012	0	0.0022	0.0033	0.0016	0.0078	0.0030595	473	154602	rs147823363	0.0030	0.0030	0.0028	0.0033	0.0117	0.0029	0.0029	0.0091	0.0081	0.0016	0.0012	0.0006	3.316e-05	0.0018	0.0117	0.0029	0.0031	0.0080	0.0022	0.0022	0.0022	0.0022	0.0071	0.0019	0.0018	0.0045	0.0037	0.0007	0	0.0024	0.0004	0.0003	0.0007	0	0.0031	0.0041	0.0071	0.828	0.02899	T	0.186	0.31427	T	0.0	0.07471	B	0.0	0.04355	B	0.007374	0.31436	N	0.360375	1	0.08975	N	0	0.06538	N	3.13	0.08014	T	0.28	0.04233	N	0.03	0.06854	-0.9619	0.38819	T	0.007	0.02598	T	10	0.0043936074	0.00089	T	.	.	.	0.032	0.07718	.	.	0.503124787307	0.49949	0.3925930921241168	0.39174	0.16216209601	0.18296	0.315780937672	0.12782	T	0.007552	0.06949	T	-0.892608	0.00001	T	-1.04996	0.00066	T	0.0054679533087499	0.00059	T	0.622938	0.23989	T	0.016141063	0.00179	0.044297237	0.05708	0.016141063	0.00179	0.044297237	0.05707	-4.574	0.31843	T	.	.	0.090	0.12702	B	.;.;.	.;.;.	-0.293768	0.02646	0.335	0.78315186591514618	0.12248	0.01735	0.05481	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999631932077722	0.41205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.51	1.09	0.19517	0.412000	0.20852	0.585000	0.19752	-0.177000	0.10537	0.995000	0.38783	0.745000	0.26509	0.177000	0.21203	0.2003:0.2523:0.174:0.3734	0.324	0.00286	924	0.18029	.;.;.	.	.	.	.	.	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	0.010707	0.013699	0.007435	0.019139	0.000000	0.011765	0.013393	0.005263	0.1667	1737.04	35	chrX	120366598	.	C	T	1737.04	.	AC=2;AF=0.167;AN=12;DP=230;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.06;SOR=0.994	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1757,153,0	5	1	0	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	17811.4	204	chrX	141906385	.	C	*	17811.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.81;DP=943;ExcessHet=0;FS=0.814;MLEAC=2;MLEAF=0.167;MQ=56.84;MQRankSum=-0.393;QD=21.54;ReadPosRankSum=0.061;SOR=0.599	GT:AD:DP:GQ:PL	1/1:1,109:110:99:3336,253,0	5	1	0	0
chrX	153319501	153319501	G	A	exonic	PNMA6F	.	nonsynonymous SNV	PNMA6F:NM_001354980:exon2:c.C1174T:p.R392C	.	1038	476	5	3	0	11	0.0114226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00238411	.	.	.	.	.	.	.	.	0.0036883	96	26028	rs188949216	0.0054	0.0026	0.0053	0.0056	0.0381	0.0052	0.0050	0.0281	0.0247	0.0021	0.0046	0.0046	0.0073	0.0012	0.0381	0.0058	0.0055	0.0027	0.0035	0.0036	0.0035	0.0035	0.0051	0.0032	0.0031	0.0042	0.0040	0.0011	0	0.0046	0.0030	0.0051	0.0003	0.0605	0.0047	0.0091	0.0025	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.24758	.	.	.	.	.	.	.	0.0090866685	0.00205	T	.	.	.	.	.	.	.	.	.	0.3574711015530339	0.35661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.726827	0.34112	T	0.15194072	0.34515	0.1523045	0.35838	0.15194072	0.34514	0.1523045	0.35837	-6.106	0.47158	T	.	.	0.158	0.34840	B	.	.	1.834308	0.23302	15.97	0.53807014310453671	0.05012	0.02597	0.07162	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0896954497736036	0.16091	.	.	.	.	.	.	.	.	.	.	.	.	0.0475984	0.06724	2.72	-0.585	0.11112	-0.552000	0.06110	.	.	-0.413000	0.05255	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:0.435:0.565	9.335	0.37209	162	0.93704	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1669.04	41	chrX	153319501	.	G	A	1669.04	.	AC=2;AF=0.167;AN=12;DP=320;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.77;SOR=1.426	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1689,144,0	5	1	0	0
chrX	153454965	153454965	C	T	exonic	HAUS7	.	nonsynonymous SNV	HAUS7:NM_001385481:exon9:c.G1019A:p.R340H,HAUS7:NM_001385483:exon10:c.G1019A:p.R340H	.	436	1061	18	7	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0042	0.00662252	0.0069	0.0015	0.0045	0.0002	0.0022	0.0071	0.0221	0.0180	0.0068046	1052	154602	rs151168698	0.0064	0.0058	0.0059	0.0072	0.0230	0.0062	0.0062	0.0188	0.0172	0.0010	0.0042	0.0127	0.0004	0.0017	0.0230	0.0058	0.0073	0.0179	0.0057	0.0058	0.0060	0.0051	0.0129	0.0054	0.0052	0.0095	0.0084	0.0019	0.0706	0.0094	0.0143	0.0003	0.0011	0.0367	0.0062	0.0117	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	4287.0	36	chrX	153454965	.	C	T	4287.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.75;DP=429;ExcessHet=0;FS=4.051;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-1.152;SOR=0.506	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2391,228,0	4	1	1	0
chrY	9488649	9488649	C	G	exonic	TSPY10;TSPY3;TSPY4	.	nonsynonymous SNV	TSPY4:NM_001164471:exon3:c.C602G:p.P201R,TSPY3:NM_001077697:exon4:c.C584G:p.P195R,TSPY10:NM_001282469:exon4:c.C584G:p.P195R,TSPY10:NM_001320962:exon4:c.C584G:p.P195R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38999056844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.109e-05	3.165e-05	.	2.109e-05	5.883e-05	3.5e-06	1.31e-06	.	.	0	0	0	0	0	0	1.915e-05	0	5.883e-05	0	4.362e-05	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	36.83	.	chrY	9488649	.	C	G	36.83	.	AC=1;AF=0.5;AN=2;BaseQRankSum=0;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=21.27;MQRankSum=0.431;QD=9.21;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:39:40,0,39	0	0	1	5